Incidental Mutation 'IGL01694:Tmtc4'
| ID |
104210 |
| 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 # |
IGL01694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
123156383-123220697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123210624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 78
(T78I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037726]
[ENSMUST00000126867]
[ENSMUST00000128969]
[ENSMUST00000143189]
[ENSMUST00000148661]
|
| AlphaFold |
Q8BG19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037726
AA Change: T78I
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594
AA Change: T78I
| 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: ENSMUST00000126867
AA Change: T78I
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594
AA Change: T78I
| 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: ENSMUST00000128969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141478
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143189
AA Change: T78I
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116480
Gene: ENSMUSG00000041594
AA Change: T78I
| 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: T78I
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594
AA Change: T78I
| 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: ENSMUST00000153496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228552
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
| Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,631,418 (GRCm39) |
L259F |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
| Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
| Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,693 (GRCm39) |
N67K |
probably benign |
Het |
| Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
| Lap3 |
T |
A |
5: 45,655,937 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,750,265 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
| Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,688,041 (GRCm39) |
N57S |
probably benign |
Het |
| Plxna3 |
T |
A |
X: 73,382,114 (GRCm39) |
D1291E |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,259 (GRCm39) |
I278T |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
| Slco6d1 |
C |
T |
1: 98,427,570 (GRCm39) |
R634W |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
| Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
| Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
probably null |
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 |
|
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 |
2014-01-21 |
Incidental Mutation