Incidental Mutation 'IGL03116:Tmtc4'
| ID |
419413 |
| 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 # |
IGL03116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
123156383-123220697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123165044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 605
(N605I)
|
| 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: N605I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594
AA Change: N605I
| 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: N605I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594
AA Change: N605I
| 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 benign
Transcript: ENSMUST00000148661
AA Change: N605I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594
AA Change: N605I
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810030O07Rik |
T |
C |
X: 12,535,892 (GRCm39) |
|
probably benign |
Het |
| 9530068E07Rik |
A |
G |
11: 52,294,331 (GRCm39) |
I199V |
probably benign |
Het |
| Aasdh |
A |
T |
5: 77,049,936 (GRCm39) |
|
probably null |
Het |
| Aatk |
T |
C |
11: 119,907,577 (GRCm39) |
I84V |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,100,071 (GRCm39) |
H727R |
probably benign |
Het |
| Aff2 |
T |
C |
X: 68,878,092 (GRCm39) |
V626A |
probably benign |
Het |
| Ano2 |
C |
A |
6: 125,957,134 (GRCm39) |
Y634* |
probably null |
Het |
| Apob |
C |
A |
12: 8,066,350 (GRCm39) |
Q4407K |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,076,642 (GRCm39) |
|
probably benign |
Het |
| Atp2b4 |
T |
G |
1: 133,656,506 (GRCm39) |
T715P |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,955,735 (GRCm39) |
S926* |
probably null |
Het |
| Cpd |
A |
T |
11: 76,702,539 (GRCm39) |
Y610N |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,707,057 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,312,772 (GRCm39) |
T1041I |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,973,749 (GRCm39) |
T658S |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,612,359 (GRCm39) |
S661T |
probably benign |
Het |
| Fcer1a |
G |
A |
1: 173,049,128 (GRCm39) |
Q172* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,435 (GRCm39) |
E576G |
possibly damaging |
Het |
| Gcsam |
T |
C |
16: 45,440,431 (GRCm39) |
F136S |
possibly damaging |
Het |
| Glmn |
T |
G |
5: 107,698,949 (GRCm39) |
T430P |
probably damaging |
Het |
| Gm5934 |
T |
C |
X: 24,340,931 (GRCm39) |
N194S |
probably benign |
Het |
| Gpatch11 |
T |
A |
17: 79,151,282 (GRCm39) |
L231* |
probably null |
Het |
| Hibadh |
A |
T |
6: 52,525,917 (GRCm39) |
N244K |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,684,060 (GRCm39) |
V723A |
probably damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,788,273 (GRCm39) |
D192V |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,846,022 (GRCm39) |
E630K |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,156 (GRCm39) |
H555R |
possibly damaging |
Het |
| Mycs |
A |
G |
X: 5,380,922 (GRCm39) |
F53L |
probably damaging |
Het |
| Ndufa10 |
G |
A |
1: 92,392,109 (GRCm39) |
Q215* |
probably null |
Het |
| Ninl |
C |
T |
2: 150,806,139 (GRCm39) |
A361T |
probably damaging |
Het |
| Pbsn |
A |
G |
X: 76,891,624 (GRCm39) |
C58R |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,335 (GRCm39) |
L720Q |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,299,925 (GRCm39) |
F679L |
probably benign |
Het |
| Sohlh1 |
C |
T |
2: 25,735,660 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
C |
6: 48,471,035 (GRCm39) |
F701L |
probably benign |
Het |
| Tdp1 |
T |
C |
12: 99,921,290 (GRCm39) |
S609P |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,932,270 (GRCm39) |
P715S |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,468,834 (GRCm39) |
S1181P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,206,892 (GRCm39) |
|
probably benign |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,898 (GRCm39) |
F249S |
probably benign |
Het |
| Zfp382 |
T |
C |
7: 29,833,614 (GRCm39) |
S422P |
probably 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 |
|
|
IGL02456:Tmtc4
|
APN |
14 |
123,163,374 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation