Incidental Mutation 'IGL02456:Tmtc4'
ID |
294192 |
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 # |
IGL02456
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
123156383-123220697 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 123163374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000046368 Gene: ENSMUSG00000041594
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
|
SMART Domains |
Protein: ENSMUSP00000116379 Gene: ENSMUSG00000041594
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 null
Transcript: ENSMUST00000148661
|
SMART Domains |
Protein: ENSMUSP00000121523 Gene: ENSMUSG00000041594
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
T |
A |
X: 126,302,584 (GRCm39) |
Y174* |
probably null |
Het |
Apc |
C |
A |
18: 34,446,935 (GRCm39) |
S1243* |
probably null |
Het |
Atp8b5 |
A |
G |
4: 43,365,578 (GRCm39) |
T731A |
probably benign |
Het |
Bcl2a1c |
T |
A |
9: 114,159,458 (GRCm39) |
F79I |
probably damaging |
Het |
Brip1 |
G |
T |
11: 85,955,925 (GRCm39) |
L863I |
possibly damaging |
Het |
Cbx4 |
T |
A |
11: 118,972,938 (GRCm39) |
K146* |
probably null |
Het |
Ces1a |
C |
T |
8: 93,766,126 (GRCm39) |
V163I |
possibly damaging |
Het |
Ces5a |
C |
T |
8: 94,255,272 (GRCm39) |
|
probably benign |
Het |
Cfhr1 |
A |
C |
1: 139,484,131 (GRCm39) |
N128K |
possibly damaging |
Het |
Clcn3 |
T |
C |
8: 61,394,391 (GRCm39) |
D46G |
probably damaging |
Het |
Cntnap1 |
T |
G |
11: 101,068,955 (GRCm39) |
I166S |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,946,872 (GRCm39) |
|
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,714,739 (GRCm39) |
|
probably benign |
Het |
Ddx23 |
A |
T |
15: 98,545,430 (GRCm39) |
V626E |
probably damaging |
Het |
Dele1 |
T |
A |
18: 38,394,177 (GRCm39) |
L458Q |
probably damaging |
Het |
Gcm2 |
T |
C |
13: 41,256,477 (GRCm39) |
Y424C |
probably benign |
Het |
Gm9964 |
A |
G |
11: 79,187,196 (GRCm39) |
F84L |
probably damaging |
Het |
Grn |
T |
A |
11: 102,326,930 (GRCm39) |
D509E |
probably benign |
Het |
Iho1 |
G |
T |
9: 108,283,820 (GRCm39) |
T208K |
probably benign |
Het |
Kdm5c |
G |
A |
X: 151,029,314 (GRCm39) |
D343N |
probably damaging |
Het |
Ly75 |
C |
T |
2: 60,124,125 (GRCm39) |
M1717I |
probably benign |
Het |
Map1a |
C |
A |
2: 121,129,134 (GRCm39) |
P133T |
probably damaging |
Het |
Mpp2 |
C |
A |
11: 101,950,199 (GRCm39) |
A552S |
possibly damaging |
Het |
Mtr |
T |
C |
13: 12,213,980 (GRCm39) |
I897M |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,095,550 (GRCm39) |
I337F |
probably damaging |
Het |
Nup85 |
T |
C |
11: 115,472,691 (GRCm39) |
|
probably benign |
Het |
Or10a49 |
A |
G |
7: 108,468,257 (GRCm39) |
Y35H |
probably benign |
Het |
Or10al2 |
T |
A |
17: 37,983,340 (GRCm39) |
M142K |
possibly damaging |
Het |
Or2t46 |
T |
A |
11: 58,472,024 (GRCm39) |
L118H |
possibly damaging |
Het |
Or51l4 |
T |
A |
7: 103,404,700 (GRCm39) |
I31F |
possibly damaging |
Het |
Or56a5 |
T |
C |
7: 104,792,966 (GRCm39) |
N178S |
probably damaging |
Het |
Pdia4 |
A |
T |
6: 47,780,429 (GRCm39) |
D301E |
probably benign |
Het |
Phf2 |
C |
A |
13: 48,982,322 (GRCm39) |
G134C |
unknown |
Het |
Polr2h |
T |
A |
16: 20,539,352 (GRCm39) |
L76H |
probably damaging |
Het |
Rbm47 |
G |
A |
5: 66,184,364 (GRCm39) |
R80C |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,507,837 (GRCm39) |
S286P |
probably damaging |
Het |
Slc5a12 |
T |
C |
2: 110,447,179 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
C |
7: 130,227,991 (GRCm39) |
S1559P |
probably benign |
Het |
Tbc1d16 |
T |
G |
11: 119,101,372 (GRCm39) |
H46P |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,440,475 (GRCm39) |
|
probably benign |
Het |
Ttc13 |
T |
C |
8: 125,417,100 (GRCm39) |
|
probably null |
Het |
Ttc17 |
T |
C |
2: 94,193,130 (GRCm39) |
|
probably benign |
Het |
Vmn1r121 |
T |
A |
7: 20,832,438 (GRCm39) |
M1L |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,860,258 (GRCm39) |
S2825P |
probably damaging |
Het |
Zan |
A |
C |
5: 137,445,106 (GRCm39) |
S1718A |
unknown |
Het |
Zfp39 |
G |
T |
11: 58,793,626 (GRCm39) |
Y37* |
probably null |
Het |
Zfp407 |
T |
C |
18: 84,576,766 (GRCm39) |
N1449S |
probably damaging |
Het |
Zhx2 |
C |
A |
15: 57,687,035 (GRCm39) |
D801E |
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 |
IGL01934:Tmtc4
|
APN |
14 |
123,165,047 (GRCm39) |
nonsense |
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 |
2015-04-16 |