Incidental Mutation 'IGL01487:Tmtc4'
ID |
88767 |
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 # |
IGL01487
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
123156383-123220697 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123163443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 647
(L647S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121523
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037726]
[ENSMUST00000126867]
[ENSMUST00000143189]
[ENSMUST00000148661]
|
AlphaFold |
Q8BG19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037726
AA Change: L647S
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000046368 Gene: ENSMUSG00000041594 AA Change: L647S
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 benign
Transcript: ENSMUST00000126867
AA Change: L647S
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000116379 Gene: ENSMUSG00000041594 AA Change: L647S
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 |
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 benign
Transcript: ENSMUST00000148661
AA Change: L647S
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000121523 Gene: ENSMUSG00000041594 AA Change: L647S
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228661
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
G |
6: 88,816,431 (GRCm39) |
V121A |
probably damaging |
Het |
Carf |
A |
G |
1: 60,148,538 (GRCm39) |
H17R |
probably damaging |
Het |
Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
Ctsm |
C |
A |
13: 61,686,883 (GRCm39) |
R3L |
probably benign |
Het |
Dnah3 |
G |
A |
7: 119,564,753 (GRCm39) |
Q2626* |
probably null |
Het |
Dpp3 |
C |
T |
19: 4,963,920 (GRCm39) |
V587I |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,481,638 (GRCm39) |
T245A |
probably damaging |
Het |
Golga5 |
A |
G |
12: 102,461,955 (GRCm39) |
|
probably benign |
Het |
Hoxb9 |
C |
T |
11: 96,165,614 (GRCm39) |
Q228* |
probably null |
Het |
Invs |
A |
G |
4: 48,398,136 (GRCm39) |
I441V |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,149,766 (GRCm39) |
E1243G |
probably benign |
Het |
Rapgefl1 |
C |
T |
11: 98,737,961 (GRCm39) |
H392Y |
probably damaging |
Het |
Ropn1 |
T |
C |
16: 34,498,839 (GRCm39) |
V209A |
probably damaging |
Het |
Scap |
G |
A |
9: 110,206,802 (GRCm39) |
|
probably null |
Het |
Scn5a |
A |
G |
9: 119,391,689 (GRCm39) |
M1T |
probably null |
Het |
Serpinb11 |
A |
T |
1: 107,307,568 (GRCm39) |
Y333F |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,544,292 (GRCm39) |
Y783H |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,376,715 (GRCm39) |
M990V |
probably benign |
Het |
Syt3 |
G |
T |
7: 44,040,423 (GRCm39) |
V219F |
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 |
|
IGL01694:Tmtc4
|
APN |
14 |
123,210,624 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01934:Tmtc4
|
APN |
14 |
123,165,047 (GRCm39) |
nonsense |
probably null |
|
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 |
2013-11-18 |