Incidental Mutation 'R1577:Tmtc1'
| ID |
171220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmtc1
|
| Ensembl Gene |
ENSMUSG00000030306 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 1 |
| Synonyms |
|
| MMRRC Submission |
039615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R1577 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148133928-148345887 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 148314318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060095]
[ENSMUST00000060095]
[ENSMUST00000060095]
[ENSMUST00000060095]
[ENSMUST00000100772]
[ENSMUST00000100772]
[ENSMUST00000100772]
[ENSMUST00000100772]
[ENSMUST00000140797]
[ENSMUST00000140797]
[ENSMUST00000140797]
[ENSMUST00000140797]
[ENSMUST00000203991]
[ENSMUST00000203991]
[ENSMUST00000203991]
[ENSMUST00000203991]
|
| AlphaFold |
Q3UV71 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000060095
|
| SMART Domains |
Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
351 |
425 |
1.3e-33 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
|
TPR
|
543 |
576 |
2.42e-3 |
SMART |
|
TPR
|
577 |
607 |
8.76e-1 |
SMART |
|
TPR
|
608 |
641 |
1.69e-2 |
SMART |
|
TPR
|
642 |
675 |
1.28e-2 |
SMART |
|
TPR
|
676 |
709 |
4.31e0 |
SMART |
|
TPR
|
710 |
743 |
1.11e-2 |
SMART |
|
TPR
|
744 |
776 |
4.62e0 |
SMART |
|
TPR
|
811 |
844 |
1.1e-1 |
SMART |
|
TPR
|
849 |
882 |
4.45e-2 |
SMART |
|
TPR
|
883 |
916 |
1.05e-3 |
SMART |
|
low complexity region
|
926 |
941 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000060095
|
| SMART Domains |
Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
351 |
425 |
1.3e-33 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
|
TPR
|
543 |
576 |
2.42e-3 |
SMART |
|
TPR
|
577 |
607 |
8.76e-1 |
SMART |
|
TPR
|
608 |
641 |
1.69e-2 |
SMART |
|
TPR
|
642 |
675 |
1.28e-2 |
SMART |
|
TPR
|
676 |
709 |
4.31e0 |
SMART |
|
TPR
|
710 |
743 |
1.11e-2 |
SMART |
|
TPR
|
744 |
776 |
4.62e0 |
SMART |
|
TPR
|
811 |
844 |
1.1e-1 |
SMART |
|
TPR
|
849 |
882 |
4.45e-2 |
SMART |
|
TPR
|
883 |
916 |
1.05e-3 |
SMART |
|
low complexity region
|
926 |
941 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000060095
|
| SMART Domains |
Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
351 |
425 |
1.3e-33 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
|
TPR
|
543 |
576 |
2.42e-3 |
SMART |
|
TPR
|
577 |
607 |
8.76e-1 |
SMART |
|
TPR
|
608 |
641 |
1.69e-2 |
SMART |
|
TPR
|
642 |
675 |
1.28e-2 |
SMART |
|
TPR
|
676 |
709 |
4.31e0 |
SMART |
|
TPR
|
710 |
743 |
1.11e-2 |
SMART |
|
TPR
|
744 |
776 |
4.62e0 |
SMART |
|
TPR
|
811 |
844 |
1.1e-1 |
SMART |
|
TPR
|
849 |
882 |
4.45e-2 |
SMART |
|
TPR
|
883 |
916 |
1.05e-3 |
SMART |
|
low complexity region
|
926 |
941 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000060095
|
| SMART Domains |
Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
|
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
351 |
425 |
1.3e-33 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
|
TPR
|
543 |
576 |
2.42e-3 |
SMART |
|
TPR
|
577 |
607 |
8.76e-1 |
SMART |
|
TPR
|
608 |
641 |
1.69e-2 |
SMART |
|
TPR
|
642 |
675 |
1.28e-2 |
SMART |
|
TPR
|
676 |
709 |
4.31e0 |
SMART |
|
TPR
|
710 |
743 |
1.11e-2 |
SMART |
|
TPR
|
744 |
776 |
4.62e0 |
SMART |
|
TPR
|
811 |
844 |
1.1e-1 |
SMART |
|
TPR
|
849 |
882 |
4.45e-2 |
SMART |
|
TPR
|
883 |
916 |
1.05e-3 |
SMART |
|
low complexity region
|
926 |
941 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100772
|
| SMART Domains |
Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
349 |
427 |
6.9e-35 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
|
TPR
|
539 |
569 |
8.76e-1 |
SMART |
|
TPR
|
570 |
603 |
1.69e-2 |
SMART |
|
TPR
|
604 |
637 |
1.28e-2 |
SMART |
|
TPR
|
638 |
671 |
4.31e0 |
SMART |
|
TPR
|
672 |
705 |
1.11e-2 |
SMART |
|
TPR
|
706 |
738 |
4.62e0 |
SMART |
|
TPR
|
773 |
806 |
1.1e-1 |
SMART |
|
TPR
|
811 |
844 |
4.45e-2 |
SMART |
|
TPR
|
845 |
878 |
1.05e-3 |
SMART |
|
low complexity region
|
888 |
903 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100772
|
| SMART Domains |
Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
349 |
427 |
6.9e-35 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
|
TPR
|
539 |
569 |
8.76e-1 |
SMART |
|
TPR
|
570 |
603 |
1.69e-2 |
SMART |
|
TPR
|
604 |
637 |
1.28e-2 |
SMART |
|
TPR
|
638 |
671 |
4.31e0 |
SMART |
|
TPR
|
672 |
705 |
1.11e-2 |
SMART |
|
TPR
|
706 |
738 |
4.62e0 |
SMART |
|
TPR
|
773 |
806 |
1.1e-1 |
SMART |
|
TPR
|
811 |
844 |
4.45e-2 |
SMART |
|
TPR
|
845 |
878 |
1.05e-3 |
SMART |
|
low complexity region
|
888 |
903 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100772
|
| SMART Domains |
Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
349 |
427 |
6.9e-35 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
|
TPR
|
539 |
569 |
8.76e-1 |
SMART |
|
TPR
|
570 |
603 |
1.69e-2 |
SMART |
|
TPR
|
604 |
637 |
1.28e-2 |
SMART |
|
TPR
|
638 |
671 |
4.31e0 |
SMART |
|
TPR
|
672 |
705 |
1.11e-2 |
SMART |
|
TPR
|
706 |
738 |
4.62e0 |
SMART |
|
TPR
|
773 |
806 |
1.1e-1 |
SMART |
|
TPR
|
811 |
844 |
4.45e-2 |
SMART |
|
TPR
|
845 |
878 |
1.05e-3 |
SMART |
|
low complexity region
|
888 |
903 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100772
|
| SMART Domains |
Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
269 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
349 |
427 |
6.9e-35 |
PFAM |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
|
TPR
|
539 |
569 |
8.76e-1 |
SMART |
|
TPR
|
570 |
603 |
1.69e-2 |
SMART |
|
TPR
|
604 |
637 |
1.28e-2 |
SMART |
|
TPR
|
638 |
671 |
4.31e0 |
SMART |
|
TPR
|
672 |
705 |
1.11e-2 |
SMART |
|
TPR
|
706 |
738 |
4.62e0 |
SMART |
|
TPR
|
773 |
806 |
1.1e-1 |
SMART |
|
TPR
|
811 |
844 |
4.45e-2 |
SMART |
|
TPR
|
845 |
878 |
1.05e-3 |
SMART |
|
low complexity region
|
888 |
903 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140797
|
| SMART Domains |
Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
259 |
337 |
9.9e-36 |
PFAM |
|
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
Pfam:TPR_12
|
449 |
516 |
9.6e-10 |
PFAM |
|
Pfam:TPR_11
|
451 |
498 |
1.3e-9 |
PFAM |
|
Pfam:TPR_1
|
453 |
486 |
5.7e-6 |
PFAM |
|
Pfam:TPR_2
|
453 |
486 |
2.6e-7 |
PFAM |
|
Pfam:TPR_8
|
453 |
486 |
6.5e-4 |
PFAM |
|
Pfam:TPR_1
|
487 |
517 |
1.6e-3 |
PFAM |
|
Pfam:TPR_8
|
496 |
518 |
1.5e-3 |
PFAM |
|
low complexity region
|
521 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140797
|
| SMART Domains |
Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
259 |
337 |
9.9e-36 |
PFAM |
|
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
Pfam:TPR_12
|
449 |
516 |
9.6e-10 |
PFAM |
|
Pfam:TPR_11
|
451 |
498 |
1.3e-9 |
PFAM |
|
Pfam:TPR_1
|
453 |
486 |
5.7e-6 |
PFAM |
|
Pfam:TPR_2
|
453 |
486 |
2.6e-7 |
PFAM |
|
Pfam:TPR_8
|
453 |
486 |
6.5e-4 |
PFAM |
|
Pfam:TPR_1
|
487 |
517 |
1.6e-3 |
PFAM |
|
Pfam:TPR_8
|
496 |
518 |
1.5e-3 |
PFAM |
|
low complexity region
|
521 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140797
|
| SMART Domains |
Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
259 |
337 |
9.9e-36 |
PFAM |
|
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
Pfam:TPR_12
|
449 |
516 |
9.6e-10 |
PFAM |
|
Pfam:TPR_11
|
451 |
498 |
1.3e-9 |
PFAM |
|
Pfam:TPR_1
|
453 |
486 |
5.7e-6 |
PFAM |
|
Pfam:TPR_2
|
453 |
486 |
2.6e-7 |
PFAM |
|
Pfam:TPR_8
|
453 |
486 |
6.5e-4 |
PFAM |
|
Pfam:TPR_1
|
487 |
517 |
1.6e-3 |
PFAM |
|
Pfam:TPR_8
|
496 |
518 |
1.5e-3 |
PFAM |
|
low complexity region
|
521 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140797
|
| SMART Domains |
Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
259 |
337 |
9.9e-36 |
PFAM |
|
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
Pfam:TPR_12
|
449 |
516 |
9.6e-10 |
PFAM |
|
Pfam:TPR_11
|
451 |
498 |
1.3e-9 |
PFAM |
|
Pfam:TPR_1
|
453 |
486 |
5.7e-6 |
PFAM |
|
Pfam:TPR_2
|
453 |
486 |
2.6e-7 |
PFAM |
|
Pfam:TPR_8
|
453 |
486 |
6.5e-4 |
PFAM |
|
Pfam:TPR_1
|
487 |
517 |
1.6e-3 |
PFAM |
|
Pfam:TPR_8
|
496 |
518 |
1.5e-3 |
PFAM |
|
low complexity region
|
521 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203991
|
| SMART Domains |
Protein: ENSMUSP00000144991
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203991
|
| SMART Domains |
Protein: ENSMUSP00000144991
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203991
|
| SMART Domains |
Protein: ENSMUSP00000144991
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203991
|
| SMART Domains |
Protein: ENSMUSP00000144991
Gene: ENSMUSG00000030306
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,264 (GRCm39) |
N404S |
possibly damaging |
Het |
| Cep85 |
T |
C |
4: 133,879,599 (GRCm39) |
E383G |
probably damaging |
Het |
| Chst4 |
A |
T |
8: 110,756,476 (GRCm39) |
H379Q |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,529,280 (GRCm39) |
I798N |
probably damaging |
Het |
| Cldnd1 |
T |
G |
16: 58,553,016 (GRCm39) |
L159R |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,906,104 (GRCm39) |
E834G |
probably damaging |
Het |
| Col2a1 |
C |
T |
15: 97,877,083 (GRCm39) |
R1065Q |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,415,162 (GRCm39) |
D674G |
probably damaging |
Het |
| Dntt |
A |
G |
19: 41,044,224 (GRCm39) |
Y463C |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,241 (GRCm39) |
E257G |
probably benign |
Het |
| Eif4b |
C |
T |
15: 101,998,336 (GRCm39) |
R339* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,476,420 (GRCm39) |
T1822M |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,435,413 (GRCm39) |
N282D |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,631,269 (GRCm39) |
M233V |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,684,319 (GRCm39) |
M652L |
probably benign |
Het |
| Gal3st2c |
G |
A |
1: 93,934,650 (GRCm39) |
V13M |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,599,240 (GRCm39) |
G686D |
probably damaging |
Het |
| Gdap1l1 |
T |
G |
2: 163,280,524 (GRCm39) |
L20R |
probably damaging |
Het |
| Gm5800 |
A |
T |
14: 51,952,016 (GRCm39) |
M82K |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,753,972 (GRCm39) |
C759S |
probably damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,393 (GRCm39) |
D83E |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,263,250 (GRCm39) |
D39G |
probably damaging |
Het |
| Ldhb |
C |
A |
6: 142,438,324 (GRCm39) |
K244N |
possibly damaging |
Het |
| Lypd6 |
C |
T |
2: 50,080,710 (GRCm39) |
R133* |
probably null |
Het |
| Med13l |
G |
A |
5: 118,859,457 (GRCm39) |
G215S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,345,196 (GRCm39) |
D606G |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,079 (GRCm39) |
T151M |
probably damaging |
Het |
| Or10q3 |
T |
C |
19: 11,847,741 (GRCm39) |
T280A |
probably damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,217 (GRCm39) |
K269R |
probably benign |
Het |
| Or2at4 |
T |
C |
7: 99,384,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Or2t26 |
T |
A |
11: 49,040,016 (GRCm39) |
C311S |
probably benign |
Het |
| Or5aq1b |
T |
C |
2: 86,901,741 (GRCm39) |
T246A |
probably benign |
Het |
| Ppm1l |
G |
A |
3: 69,460,403 (GRCm39) |
G327R |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,558,911 (GRCm39) |
A282V |
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,771,367 (GRCm39) |
V464A |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,047 (GRCm39) |
E1119K |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,219,001 (GRCm39) |
T112I |
probably benign |
Het |
| Skint6 |
T |
C |
4: 113,005,720 (GRCm39) |
T363A |
possibly damaging |
Het |
| Slc22a16 |
G |
T |
10: 40,479,811 (GRCm39) |
E607* |
probably null |
Het |
| Slc24a2 |
T |
C |
4: 86,909,648 (GRCm39) |
Y690C |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,354,306 (GRCm39) |
S115G |
probably benign |
Het |
| Slc4a3 |
T |
C |
1: 75,527,535 (GRCm39) |
L168P |
probably damaging |
Het |
| Spats2 |
T |
A |
15: 99,076,333 (GRCm39) |
I137N |
possibly damaging |
Het |
| Stard4 |
A |
T |
18: 33,338,151 (GRCm39) |
V133D |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,284,728 (GRCm39) |
|
probably null |
Het |
| Tfpi |
A |
G |
2: 84,263,447 (GRCm39) |
I305T |
probably damaging |
Het |
| Tpcn1 |
A |
C |
5: 120,682,485 (GRCm39) |
W508G |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,030,974 (GRCm39) |
N406K |
possibly damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,265,052 (GRCm39) |
L118* |
probably null |
Het |
| Zbtb5 |
T |
C |
4: 44,995,129 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfand4 |
C |
A |
6: 116,306,373 (GRCm39) |
Y735* |
probably null |
Het |
| Zfp180 |
G |
T |
7: 23,805,333 (GRCm39) |
C584F |
probably damaging |
Het |
|
| Other mutations in Tmtc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Tmtc1
|
APN |
6 |
148,345,442 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01377:Tmtc1
|
APN |
6 |
148,147,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01728:Tmtc1
|
APN |
6 |
148,312,564 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02904:Tmtc1
|
APN |
6 |
148,150,980 (GRCm39) |
splice site |
probably benign |
|
|
R0044:Tmtc1
|
UTSW |
6 |
148,314,327 (GRCm39) |
splice site |
probably benign |
|
|
R0107:Tmtc1
|
UTSW |
6 |
148,327,411 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0114:Tmtc1
|
UTSW |
6 |
148,314,328 (GRCm39) |
splice site |
probably benign |
|
|
R0243:Tmtc1
|
UTSW |
6 |
148,148,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Tmtc1
|
UTSW |
6 |
148,151,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0441:Tmtc1
|
UTSW |
6 |
148,317,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Tmtc1
|
UTSW |
6 |
148,314,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0578:Tmtc1
|
UTSW |
6 |
148,256,716 (GRCm39) |
intron |
probably benign |
|
|
R0685:Tmtc1
|
UTSW |
6 |
148,312,738 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1470:Tmtc1
|
UTSW |
6 |
148,207,483 (GRCm39) |
splice site |
probably benign |
|
|
R1533:Tmtc1
|
UTSW |
6 |
148,147,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1617:Tmtc1
|
UTSW |
6 |
148,256,902 (GRCm39) |
intron |
probably benign |
|
|
R1763:Tmtc1
|
UTSW |
6 |
148,196,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Tmtc1
|
UTSW |
6 |
148,345,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1943:Tmtc1
|
UTSW |
6 |
148,327,416 (GRCm39) |
nonsense |
probably null |
|
|
R2050:Tmtc1
|
UTSW |
6 |
148,164,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2305:Tmtc1
|
UTSW |
6 |
148,146,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3813:Tmtc1
|
UTSW |
6 |
148,256,389 (GRCm39) |
intron |
probably benign |
|
|
R4355:Tmtc1
|
UTSW |
6 |
148,256,596 (GRCm39) |
intron |
probably benign |
|
|
R4537:Tmtc1
|
UTSW |
6 |
148,164,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4731:Tmtc1
|
UTSW |
6 |
148,186,478 (GRCm39) |
splice site |
probably null |
|
|
R4732:Tmtc1
|
UTSW |
6 |
148,186,478 (GRCm39) |
splice site |
probably null |
|
|
R4733:Tmtc1
|
UTSW |
6 |
148,186,478 (GRCm39) |
splice site |
probably null |
|
|
R4960:Tmtc1
|
UTSW |
6 |
148,345,445 (GRCm39) |
unclassified |
probably benign |
|
|
R5048:Tmtc1
|
UTSW |
6 |
148,139,344 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5118:Tmtc1
|
UTSW |
6 |
148,171,485 (GRCm39) |
intron |
probably benign |
|
|
R5279:Tmtc1
|
UTSW |
6 |
148,256,629 (GRCm39) |
intron |
probably benign |
|
|
R5310:Tmtc1
|
UTSW |
6 |
148,256,910 (GRCm39) |
intron |
probably benign |
|
|
R5411:Tmtc1
|
UTSW |
6 |
148,345,397 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5646:Tmtc1
|
UTSW |
6 |
148,148,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5868:Tmtc1
|
UTSW |
6 |
148,139,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6482:Tmtc1
|
UTSW |
6 |
148,314,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7162:Tmtc1
|
UTSW |
6 |
148,172,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Tmtc1
|
UTSW |
6 |
148,226,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Tmtc1
|
UTSW |
6 |
148,345,415 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8304:Tmtc1
|
UTSW |
6 |
148,172,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8353:Tmtc1
|
UTSW |
6 |
148,327,346 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9032:Tmtc1
|
UTSW |
6 |
148,237,749 (GRCm39) |
nonsense |
probably null |
|
|
R9085:Tmtc1
|
UTSW |
6 |
148,237,749 (GRCm39) |
nonsense |
probably null |
|
|
R9089:Tmtc1
|
UTSW |
6 |
148,147,215 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9287:Tmtc1
|
UTSW |
6 |
148,186,390 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9649:Tmtc1
|
UTSW |
6 |
148,144,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Tmtc1
|
UTSW |
6 |
148,149,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmtc1
|
UTSW |
6 |
148,312,578 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGGAAATGACTTACAACTTGTCCTGC -3'
(R):5'- TTGTACCAAGAAATCCGGCTTCCC -3'
Sequencing Primer
(F):5'- ACAACTTGTCCTGCTTGTGG -3'
(R):5'- actaaaccccttccttcagc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation