Incidental Mutation 'R7462:Tmtc1'
| ID |
578499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmtc1
|
| Ensembl Gene |
ENSMUSG00000030306 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 1 |
| Synonyms |
|
| MMRRC Submission |
045536-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
148133928-148345887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148226643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 427
(L427P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060095]
[ENSMUST00000100772]
[ENSMUST00000140797]
|
| AlphaFold |
Q3UV71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060095
AA Change: L427P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
AA Change: L427P
| 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 damaging
Transcript: ENSMUST00000100772
AA Change: L427P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
AA Change: L427P
| 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 damaging
Transcript: ENSMUST00000140797
AA Change: L337P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306
AA Change: L337P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
G |
C |
3: 126,736,683 (GRCm39) |
T3067S |
unknown |
Het |
| Ankrd28 |
T |
C |
14: 31,500,886 (GRCm39) |
N35S |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,713,060 (GRCm39) |
S996T |
possibly damaging |
Het |
| Btbd7 |
T |
C |
12: 102,803,981 (GRCm39) |
E353G |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,494,764 (GRCm39) |
Y924F |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,628,621 (GRCm39) |
I362T |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,253,462 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
T |
A |
8: 37,405,118 (GRCm39) |
T224S |
unknown |
Het |
| Dmxl2 |
T |
C |
9: 54,273,916 (GRCm39) |
|
probably null |
Het |
| Dnajc1 |
A |
G |
2: 18,313,710 (GRCm39) |
F137S |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,836,722 (GRCm39) |
T24A |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,301,638 (GRCm39) |
E317G |
probably null |
Het |
| Fpr-rs6 |
A |
G |
17: 20,402,485 (GRCm39) |
L292P |
probably damaging |
Het |
| Gca |
G |
T |
2: 62,502,753 (GRCm39) |
D54Y |
possibly damaging |
Het |
| Gm45861 |
G |
A |
8: 28,024,517 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,080,055 (GRCm39) |
|
probably null |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
| Hgsnat |
T |
C |
8: 26,447,241 (GRCm39) |
N351S |
probably benign |
Het |
| Htr1f |
A |
T |
16: 64,746,383 (GRCm39) |
V303E |
probably damaging |
Het |
| Iars2 |
C |
A |
1: 185,055,063 (GRCm39) |
W302L |
probably damaging |
Het |
| Igkv4-74 |
T |
A |
6: 69,162,100 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,476,673 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
A |
G |
7: 97,155,335 (GRCm39) |
D329G |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,650,073 (GRCm39) |
F249S |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,932,089 (GRCm39) |
E672G |
probably null |
Het |
| Lhx6 |
A |
G |
2: 35,974,083 (GRCm39) |
I359T |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,003,041 (GRCm39) |
E2030G |
|
Het |
| Macf1 |
T |
A |
4: 123,386,556 (GRCm39) |
K1114N |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,147,892 (GRCm39) |
M701V |
possibly damaging |
Het |
| Mcemp1 |
A |
T |
8: 3,717,065 (GRCm39) |
M69L |
probably benign |
Het |
| Mfsd4b2 |
T |
A |
10: 39,797,877 (GRCm39) |
K159N |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,938,109 (GRCm39) |
D243E |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,931,568 (GRCm39) |
S873G |
unknown |
Het |
| Mug1 |
A |
T |
6: 121,852,399 (GRCm39) |
Q829L |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,659,439 (GRCm39) |
V726E |
probably damaging |
Het |
| Nfib |
T |
C |
4: 82,271,826 (GRCm39) |
Q247R |
probably benign |
Het |
| Npbwr1 |
T |
C |
1: 5,987,151 (GRCm39) |
N121S |
probably damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,296 (GRCm39) |
D171G |
probably benign |
Het |
| Or52b2 |
T |
A |
7: 104,986,707 (GRCm39) |
D72V |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,379 (GRCm39) |
C240* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,355,409 (GRCm39) |
S726G |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,167,232 (GRCm39) |
V847D |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Ripor2 |
G |
A |
13: 24,880,290 (GRCm39) |
V385M |
unknown |
Het |
| Rufy1 |
C |
T |
11: 50,298,655 (GRCm39) |
V379M |
possibly damaging |
Het |
| S100a5 |
A |
G |
3: 90,517,207 (GRCm39) |
K26R |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 57,002,809 (GRCm39) |
S234P |
probably benign |
Het |
| Sirt7 |
G |
A |
11: 120,511,618 (GRCm39) |
T225I |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 24,006,401 (GRCm39) |
T476S |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,351 (GRCm39) |
M331K |
probably benign |
Het |
| Spam1 |
T |
C |
6: 24,796,907 (GRCm39) |
I286T |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,002,793 (GRCm39) |
I214F |
possibly damaging |
Het |
| Tpbg |
G |
A |
9: 85,726,903 (GRCm39) |
A291T |
possibly damaging |
Het |
| Zfp40 |
A |
G |
17: 23,397,362 (GRCm39) |
F45S |
possibly damaging |
Het |
| Zfp451 |
C |
T |
1: 33,816,094 (GRCm39) |
V619M |
probably damaging |
Het |
| Zim1 |
A |
G |
7: 6,680,811 (GRCm39) |
L284P |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
Het |
| Zmynd11 |
T |
A |
13: 9,748,720 (GRCm39) |
N154Y |
probably benign |
Het |
| Zscan12 |
A |
T |
13: 21,553,457 (GRCm39) |
H427L |
possibly 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 |
|
|
R1577:Tmtc1
|
UTSW |
6 |
148,314,318 (GRCm39) |
critical splice acceptor 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 |
|
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'- TGGCATGGTCTATTAGCCCTG -3'
(R):5'- AATGGCTGATTTGACATCTTTCCC -3'
Sequencing Primer
(F):5'- GACCCAGACCCTGATTAA -3'
(R):5'- CAAAACTGTTCTCTTTGTAGGTTCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation