Incidental Mutation 'R8304:Tmtc1'
| ID |
639382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmtc1
|
| Ensembl Gene |
ENSMUSG00000030306 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 1 |
| Synonyms |
|
| MMRRC Submission |
067791-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R8304 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
148133928-148345887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148172883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 616
(N616S)
|
| 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: N616S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
AA Change: N616S
| 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: N578S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
AA Change: N578S
| 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 |
possibly damaging
Transcript: ENSMUST00000140797
AA Change: N526S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306
AA Change: N526S
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,997,954 (GRCm39) |
|
probably null |
Het |
| Akap11 |
T |
C |
14: 78,750,672 (GRCm39) |
T572A |
|
Het |
| Amigo2 |
A |
T |
15: 97,144,038 (GRCm39) |
L128Q |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,542 (GRCm39) |
I1297T |
possibly damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,167,233 (GRCm39) |
C623* |
probably null |
Het |
| Armc2 |
T |
C |
10: 41,823,935 (GRCm39) |
Y511C |
probably damaging |
Het |
| Asb15 |
C |
T |
6: 24,559,296 (GRCm39) |
P147L |
possibly damaging |
Het |
| Caprin1 |
G |
T |
2: 103,599,862 (GRCm39) |
N604K |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,897,679 (GRCm39) |
F113L |
probably benign |
Het |
| Cltc |
C |
T |
11: 86,616,087 (GRCm39) |
R393H |
probably benign |
Het |
| Cul4a |
G |
A |
8: 13,177,727 (GRCm39) |
C289Y |
possibly damaging |
Het |
| Cyp4a29 |
T |
A |
4: 115,111,653 (GRCm39) |
F477I |
probably damaging |
Het |
| Dapk2 |
C |
T |
9: 66,139,027 (GRCm39) |
A116V |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,451,803 (GRCm39) |
I1231T |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,084,774 (GRCm39) |
I874V |
probably benign |
Het |
| Eral1 |
A |
T |
11: 77,966,828 (GRCm39) |
S196T |
probably damaging |
Het |
| Erc2 |
T |
G |
14: 27,375,122 (GRCm39) |
D113E |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,274,066 (GRCm39) |
I1103V |
possibly damaging |
Het |
| Galm |
A |
G |
17: 80,490,766 (GRCm39) |
T308A |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,950 (GRCm39) |
N2650K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,809,186 (GRCm39) |
D2562G |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,607,695 (GRCm39) |
L67* |
probably null |
Het |
| Irx3 |
T |
A |
8: 92,526,834 (GRCm39) |
D290V |
probably damaging |
Het |
| Kcns1 |
A |
T |
2: 164,010,022 (GRCm39) |
Y246N |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,127 (GRCm39) |
T1557A |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,069,929 (GRCm39) |
N29S |
possibly damaging |
Het |
| Mmp24 |
T |
C |
2: 155,641,759 (GRCm39) |
F196L |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,955,119 (GRCm39) |
V704A |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,958,803 (GRCm39) |
M112V |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,195,162 (GRCm39) |
H1659N |
possibly damaging |
Het |
| Nlgn1 |
C |
T |
3: 26,187,534 (GRCm39) |
C117Y |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,416,489 (GRCm39) |
T237M |
possibly damaging |
Het |
| Or2r2 |
C |
T |
6: 42,463,672 (GRCm39) |
V152I |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,423,917 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Or5v1 |
A |
T |
17: 37,810,261 (GRCm39) |
T240S |
probably damaging |
Het |
| Or8b57 |
A |
T |
9: 40,003,650 (GRCm39) |
I204N |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,104,402 (GRCm39) |
T641M |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,940,203 (GRCm39) |
H537R |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,824,101 (GRCm39) |
L174Q |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 30,701,584 (GRCm39) |
V326A |
possibly damaging |
Het |
| Psmb3 |
T |
A |
11: 97,601,995 (GRCm39) |
C122S |
probably benign |
Het |
| Sh3bgrl3 |
C |
A |
4: 133,855,312 (GRCm39) |
A45S |
probably benign |
Het |
| Slc25a47 |
T |
C |
12: 108,821,868 (GRCm39) |
V219A |
possibly damaging |
Het |
| Slfn9 |
A |
C |
11: 82,873,605 (GRCm39) |
S433A |
probably benign |
Het |
| Spata13 |
A |
T |
14: 60,993,957 (GRCm39) |
R1136S |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,870,911 (GRCm39) |
A1313S |
probably benign |
Het |
| Stim1 |
G |
A |
7: 102,084,688 (GRCm39) |
A547T |
possibly damaging |
Het |
| Taf5l |
A |
T |
8: 124,730,251 (GRCm39) |
I146N |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,825,824 (GRCm39) |
E225V |
possibly damaging |
Het |
| Tesc |
T |
C |
5: 118,194,495 (GRCm39) |
Y135H |
probably benign |
Het |
| Tfg |
T |
C |
16: 56,521,581 (GRCm39) |
E145G |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,565,109 (GRCm39) |
C1150* |
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,639,797 (GRCm39) |
W1600R |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,199,526 (GRCm39) |
|
probably benign |
Het |
| Zfand1 |
A |
T |
3: 10,413,615 (GRCm39) |
L24* |
probably null |
Het |
| Zfp282 |
AGCGGCGGCGGCGGCGGC |
AGCGGCGGCGGCGGC |
6: 47,881,722 (GRCm39) |
|
probably benign |
Het |
| Zfp770 |
A |
C |
2: 114,027,891 (GRCm39) |
F59L |
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 |
|
|
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 |
|
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 |
|
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'- TCCTGTGACAGACAATCTATGG -3'
(R):5'- AGGCTGTGGCATGCTTAAAG -3'
Sequencing Primer
(F):5'- GTGACAGACAATCTATGGACTGATC -3'
(R):5'- CATGCTTAAAGTGCCAGTGTAG -3'
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| Posted On |
2020-07-28 |
Incidental Mutation