Incidental Mutation 'IGL01934:Tmtc4'
ID |
180554 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmtc4
|
Ensembl Gene |
ENSMUSG00000041594 |
Gene Name |
transmembrane and tetratricopeptide repeat containing 4 |
Synonyms |
4930403J22Rik, 5730419O14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01934
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
123156383-123220697 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 123165047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 604
(L604*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121523
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037726]
[ENSMUST00000126867]
[ENSMUST00000143189]
[ENSMUST00000148661]
|
AlphaFold |
Q8BG19 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037726
AA Change: L604*
|
SMART Domains |
Protein: ENSMUSP00000046368 Gene: ENSMUSG00000041594 AA Change: L604*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
transmembrane domain
|
174 |
191 |
N/A |
INTRINSIC |
transmembrane domain
|
201 |
220 |
N/A |
INTRINSIC |
transmembrane domain
|
227 |
249 |
N/A |
INTRINSIC |
transmembrane domain
|
269 |
288 |
N/A |
INTRINSIC |
Pfam:DUF1736
|
290 |
369 |
3e-35 |
PFAM |
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
TPR
|
482 |
515 |
2.49e-5 |
SMART |
TPR
|
516 |
549 |
9.03e-3 |
SMART |
TPR
|
550 |
583 |
2.49e-5 |
SMART |
TPR
|
584 |
617 |
2.63e-4 |
SMART |
TPR
|
618 |
651 |
5.78e-1 |
SMART |
TPR
|
652 |
685 |
2.19e-1 |
SMART |
TPR
|
686 |
719 |
1.37e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000100291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126494
|
Predicted Effect |
probably null
Transcript: ENSMUST00000126867
AA Change: L604*
|
SMART Domains |
Protein: ENSMUSP00000116379 Gene: ENSMUSG00000041594 AA Change: L604*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
transmembrane domain
|
174 |
191 |
N/A |
INTRINSIC |
transmembrane domain
|
201 |
220 |
N/A |
INTRINSIC |
transmembrane domain
|
227 |
249 |
N/A |
INTRINSIC |
transmembrane domain
|
269 |
288 |
N/A |
INTRINSIC |
Pfam:DUF1736
|
290 |
369 |
3e-35 |
PFAM |
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
TPR
|
482 |
515 |
2.49e-5 |
SMART |
TPR
|
516 |
549 |
9.03e-3 |
SMART |
TPR
|
550 |
583 |
2.49e-5 |
SMART |
TPR
|
584 |
617 |
2.63e-4 |
SMART |
TPR
|
618 |
651 |
5.78e-1 |
SMART |
TPR
|
652 |
685 |
2.19e-1 |
SMART |
TPR
|
686 |
719 |
1.37e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135917
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143189
|
SMART Domains |
Protein: ENSMUSP00000116480 Gene: ENSMUSG00000041594
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
transmembrane domain
|
200 |
219 |
N/A |
INTRINSIC |
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148661
AA Change: L604*
|
SMART Domains |
Protein: ENSMUSP00000121523 Gene: ENSMUSG00000041594 AA Change: L604*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
transmembrane domain
|
174 |
191 |
N/A |
INTRINSIC |
transmembrane domain
|
201 |
220 |
N/A |
INTRINSIC |
transmembrane domain
|
227 |
249 |
N/A |
INTRINSIC |
transmembrane domain
|
269 |
288 |
N/A |
INTRINSIC |
Pfam:DUF1736
|
292 |
366 |
4.4e-36 |
PFAM |
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
TPR
|
482 |
515 |
2.49e-5 |
SMART |
TPR
|
516 |
549 |
9.03e-3 |
SMART |
TPR
|
550 |
583 |
2.49e-5 |
SMART |
TPR
|
584 |
617 |
2.63e-4 |
SMART |
TPR
|
618 |
651 |
5.78e-1 |
SMART |
TPR
|
652 |
685 |
2.19e-1 |
SMART |
TPR
|
686 |
719 |
1.37e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161599
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162218
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,823,112 (GRCm39) |
K362E |
probably damaging |
Het |
4932438H23Rik |
T |
A |
16: 90,852,753 (GRCm39) |
T128S |
probably damaging |
Het |
Aars1 |
T |
A |
8: 111,774,650 (GRCm39) |
I593N |
probably damaging |
Het |
Abca6 |
A |
T |
11: 110,079,481 (GRCm39) |
N1224K |
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,241,191 (GRCm39) |
|
probably benign |
Het |
Adam7 |
A |
G |
14: 68,770,048 (GRCm39) |
L35P |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,980,021 (GRCm39) |
L435Q |
probably damaging |
Het |
Ankef1 |
A |
G |
2: 136,394,451 (GRCm39) |
E620G |
possibly damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,965,695 (GRCm39) |
I568F |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,545,092 (GRCm39) |
L1082* |
probably null |
Het |
Atp6v0a4 |
T |
A |
6: 38,028,481 (GRCm39) |
I712F |
possibly damaging |
Het |
Bco1 |
T |
A |
8: 117,822,784 (GRCm39) |
F5L |
possibly damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,285,729 (GRCm39) |
S794C |
probably damaging |
Het |
Camk2d |
T |
C |
3: 126,628,304 (GRCm39) |
|
probably null |
Het |
Capn15 |
T |
C |
17: 26,181,998 (GRCm39) |
T604A |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,839,366 (GRCm39) |
D83V |
probably damaging |
Het |
Ces1a |
C |
A |
8: 93,759,278 (GRCm39) |
R286L |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,575,858 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
A |
G |
2: 145,773,202 (GRCm39) |
V148A |
probably benign |
Het |
Epas1 |
A |
T |
17: 87,131,157 (GRCm39) |
K312N |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,712,618 (GRCm39) |
S148G |
probably damaging |
Het |
Fig4 |
T |
C |
10: 41,104,108 (GRCm39) |
T791A |
probably benign |
Het |
Galnt9 |
A |
T |
5: 110,750,502 (GRCm39) |
I340F |
possibly damaging |
Het |
Gfap |
G |
A |
11: 102,785,286 (GRCm39) |
A230V |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm454 |
T |
C |
5: 138,205,424 (GRCm39) |
|
noncoding transcript |
Het |
Il24 |
A |
T |
1: 130,811,614 (GRCm39) |
L115Q |
probably damaging |
Het |
Ipp |
C |
A |
4: 116,367,852 (GRCm39) |
N28K |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,018,882 (GRCm39) |
|
probably null |
Het |
Klf10 |
C |
T |
15: 38,297,528 (GRCm39) |
V171M |
probably benign |
Het |
Man1b1 |
T |
C |
2: 25,235,523 (GRCm39) |
S350P |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,974,049 (GRCm39) |
Y343C |
probably damaging |
Het |
Mrpl58 |
C |
A |
11: 115,301,555 (GRCm39) |
|
probably benign |
Het |
Myo7b |
A |
G |
18: 32,134,394 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,339,880 (GRCm39) |
|
probably benign |
Het |
Nisch |
A |
G |
14: 30,898,696 (GRCm39) |
|
probably benign |
Het |
Or1o2 |
A |
T |
17: 37,542,439 (GRCm39) |
V274D |
probably damaging |
Het |
Or52z14 |
T |
C |
7: 103,253,182 (GRCm39) |
F107S |
probably damaging |
Het |
Or5p69 |
A |
G |
7: 107,967,368 (GRCm39) |
I224V |
probably damaging |
Het |
Parva |
T |
A |
7: 112,187,760 (GRCm39) |
C352* |
probably null |
Het |
Ptf1a |
T |
A |
2: 19,451,431 (GRCm39) |
C254S |
possibly damaging |
Het |
R3hdm1 |
G |
T |
1: 128,164,272 (GRCm39) |
R1062L |
probably benign |
Het |
Rnf44 |
A |
G |
13: 54,829,763 (GRCm39) |
V407A |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,434,049 (GRCm39) |
L1598P |
probably damaging |
Het |
Slit2 |
T |
C |
5: 48,395,747 (GRCm39) |
S717P |
possibly damaging |
Het |
Tdpoz4 |
A |
G |
3: 93,704,779 (GRCm39) |
K359E |
probably damaging |
Het |
Tnfrsf21 |
A |
T |
17: 43,376,078 (GRCm39) |
N488I |
probably benign |
Het |
Tnfsf8 |
A |
G |
4: 63,752,747 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,575,019 (GRCm39) |
L382M |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,931,355 (GRCm39) |
C18R |
probably damaging |
Het |
Ugt8a |
A |
G |
3: 125,708,424 (GRCm39) |
S229P |
probably benign |
Het |
Usp22 |
T |
C |
11: 61,046,114 (GRCm39) |
E476G |
probably damaging |
Het |
Vill |
G |
T |
9: 118,895,877 (GRCm39) |
A146S |
probably damaging |
Het |
Vmn1r178 |
T |
C |
7: 23,593,362 (GRCm39) |
Y137H |
probably damaging |
Het |
Wdfy1 |
A |
T |
1: 79,717,833 (GRCm39) |
W51R |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,296,768 (GRCm39) |
|
probably null |
Het |
Zfp236 |
A |
T |
18: 82,651,245 (GRCm39) |
V889E |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,486,277 (GRCm39) |
D141G |
possibly damaging |
Het |
|
Other mutations in Tmtc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01380:Tmtc4
|
APN |
14 |
123,163,366 (GRCm39) |
splice site |
probably benign |
|
IGL01408:Tmtc4
|
APN |
14 |
123,163,366 (GRCm39) |
splice site |
probably benign |
|
IGL01487:Tmtc4
|
APN |
14 |
123,163,443 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01694:Tmtc4
|
APN |
14 |
123,210,624 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02456:Tmtc4
|
APN |
14 |
123,163,374 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03116:Tmtc4
|
APN |
14 |
123,165,044 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03326:Tmtc4
|
APN |
14 |
123,182,952 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4403001:Tmtc4
|
UTSW |
14 |
123,210,641 (GRCm39) |
missense |
probably benign |
0.01 |
R0344:Tmtc4
|
UTSW |
14 |
123,215,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R0630:Tmtc4
|
UTSW |
14 |
123,163,502 (GRCm39) |
splice site |
probably benign |
|
R0849:Tmtc4
|
UTSW |
14 |
123,182,966 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1129:Tmtc4
|
UTSW |
14 |
123,180,565 (GRCm39) |
critical splice donor site |
probably null |
|
R1601:Tmtc4
|
UTSW |
14 |
123,182,238 (GRCm39) |
missense |
probably benign |
0.01 |
R1835:Tmtc4
|
UTSW |
14 |
123,179,400 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1966:Tmtc4
|
UTSW |
14 |
123,165,011 (GRCm39) |
missense |
probably benign |
0.31 |
R2024:Tmtc4
|
UTSW |
14 |
123,158,677 (GRCm39) |
missense |
probably benign |
0.02 |
R2025:Tmtc4
|
UTSW |
14 |
123,158,677 (GRCm39) |
missense |
probably benign |
0.02 |
R2026:Tmtc4
|
UTSW |
14 |
123,158,677 (GRCm39) |
missense |
probably benign |
0.02 |
R2027:Tmtc4
|
UTSW |
14 |
123,158,677 (GRCm39) |
missense |
probably benign |
0.02 |
R2256:Tmtc4
|
UTSW |
14 |
123,178,820 (GRCm39) |
missense |
probably benign |
0.09 |
R2439:Tmtc4
|
UTSW |
14 |
123,209,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R3001:Tmtc4
|
UTSW |
14 |
123,170,230 (GRCm39) |
critical splice donor site |
probably null |
|
R3002:Tmtc4
|
UTSW |
14 |
123,170,230 (GRCm39) |
critical splice donor site |
probably null |
|
R3894:Tmtc4
|
UTSW |
14 |
123,158,731 (GRCm39) |
splice site |
probably null |
|
R4561:Tmtc4
|
UTSW |
14 |
123,200,710 (GRCm39) |
missense |
probably benign |
0.21 |
R4926:Tmtc4
|
UTSW |
14 |
123,210,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:Tmtc4
|
UTSW |
14 |
123,170,743 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5024:Tmtc4
|
UTSW |
14 |
123,178,714 (GRCm39) |
splice site |
probably null |
|
R5104:Tmtc4
|
UTSW |
14 |
123,170,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R5200:Tmtc4
|
UTSW |
14 |
123,182,969 (GRCm39) |
missense |
probably benign |
0.05 |
R5536:Tmtc4
|
UTSW |
14 |
123,170,291 (GRCm39) |
missense |
probably benign |
0.09 |
R5677:Tmtc4
|
UTSW |
14 |
123,187,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R5768:Tmtc4
|
UTSW |
14 |
123,170,565 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6467:Tmtc4
|
UTSW |
14 |
123,163,391 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7317:Tmtc4
|
UTSW |
14 |
123,215,593 (GRCm39) |
missense |
probably benign |
0.00 |
R7516:Tmtc4
|
UTSW |
14 |
123,180,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7539:Tmtc4
|
UTSW |
14 |
123,215,701 (GRCm39) |
splice site |
probably null |
|
R7584:Tmtc4
|
UTSW |
14 |
123,215,563 (GRCm39) |
missense |
probably benign |
0.01 |
R7821:Tmtc4
|
UTSW |
14 |
123,209,289 (GRCm39) |
missense |
probably benign |
|
R7903:Tmtc4
|
UTSW |
14 |
123,165,060 (GRCm39) |
missense |
probably benign |
0.00 |
R8969:Tmtc4
|
UTSW |
14 |
123,179,224 (GRCm39) |
splice site |
probably benign |
|
R9239:Tmtc4
|
UTSW |
14 |
123,165,078 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9381:Tmtc4
|
UTSW |
14 |
123,163,441 (GRCm39) |
missense |
probably benign |
0.00 |
R9513:Tmtc4
|
UTSW |
14 |
123,209,204 (GRCm39) |
missense |
probably benign |
0.01 |
R9581:Tmtc4
|
UTSW |
14 |
123,187,998 (GRCm39) |
missense |
probably benign |
|
R9592:Tmtc4
|
UTSW |
14 |
123,170,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |