Incidental Mutation 'IGL01160:Tmc4'
| ID |
53641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmc4
|
| Ensembl Gene |
ENSMUSG00000019734 |
| Gene Name |
transmembrane channel-like gene family 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL01160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3668790-3680522 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3678517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 38
(Y38C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038608]
[ENSMUST00000038743]
[ENSMUST00000121743]
[ENSMUST00000127106]
[ENSMUST00000128364]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038608
|
| SMART Domains |
Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
57 |
420 |
2.4e-37 |
PFAM |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038743
AA Change: Y105C
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734
AA Change: Y105C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
transmembrane domain
|
232 |
251 |
N/A |
INTRINSIC |
|
transmembrane domain
|
332 |
354 |
N/A |
INTRINSIC |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
Pfam:TMC
|
457 |
567 |
2.5e-42 |
PFAM |
|
transmembrane domain
|
572 |
594 |
N/A |
INTRINSIC |
|
transmembrane domain
|
637 |
659 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121743
AA Change: Y38C
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112541
Gene: ENSMUSG00000019734
AA Change: Y38C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
84 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
|
transmembrane domain
|
165 |
184 |
N/A |
INTRINSIC |
|
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
transmembrane domain
|
307 |
329 |
N/A |
INTRINSIC |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
Pfam:TMC
|
390 |
500 |
1.4e-40 |
PFAM |
|
transmembrane domain
|
505 |
527 |
N/A |
INTRINSIC |
|
transmembrane domain
|
570 |
592 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127106
|
| SMART Domains |
Protein: ENSMUSP00000116446
Gene: ENSMUSG00000035596
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128364
|
| SMART Domains |
Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144751
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
A |
G |
8: 12,894,609 (GRCm39) |
T188A |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,357,367 (GRCm39) |
V20A |
probably benign |
Het |
| Btn1a1 |
G |
A |
13: 23,645,907 (GRCm39) |
T154M |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,481,532 (GRCm39) |
S200G |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,213,468 (GRCm39) |
G1358S |
probably damaging |
Het |
| Crlf2 |
T |
C |
5: 109,705,436 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cstf2 |
T |
A |
X: 132,961,478 (GRCm39) |
|
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,303,312 (GRCm39) |
D281G |
probably benign |
Het |
| Dmd |
T |
C |
X: 82,968,567 (GRCm39) |
L1855P |
probably damaging |
Het |
| Dnajc5g |
T |
C |
5: 31,267,529 (GRCm39) |
V112A |
probably benign |
Het |
| Dnmt1 |
G |
A |
9: 20,828,615 (GRCm39) |
P828S |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,783,887 (GRCm39) |
S268R |
probably damaging |
Het |
| Dpep2 |
C |
T |
8: 106,713,076 (GRCm39) |
V440M |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,331,667 (GRCm39) |
M741K |
probably damaging |
Het |
| Fermt3 |
C |
T |
19: 6,980,626 (GRCm39) |
|
probably null |
Het |
| Fosb |
A |
G |
7: 19,041,039 (GRCm39) |
|
probably null |
Het |
| Gm3238 |
C |
A |
10: 77,606,717 (GRCm39) |
|
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,480 (GRCm39) |
S118T |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,923,662 (GRCm39) |
D1140G |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,326,750 (GRCm39) |
|
probably benign |
Het |
| Irf3 |
C |
A |
7: 44,648,220 (GRCm39) |
D28E |
possibly damaging |
Het |
| Ly6i |
A |
T |
15: 74,851,881 (GRCm39) |
I96N |
possibly damaging |
Het |
| Macrod2 |
T |
C |
2: 140,666,962 (GRCm39) |
|
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,941 (GRCm39) |
R302G |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,072 (GRCm39) |
M1K |
probably null |
Het |
| Or4f15 |
A |
G |
2: 111,814,278 (GRCm39) |
L47P |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,436,843 (GRCm39) |
G214R |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,538,879 (GRCm39) |
M1128K |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,768,368 (GRCm39) |
I183F |
probably damaging |
Het |
| Pbsn |
T |
C |
X: 76,886,177 (GRCm39) |
N147S |
probably benign |
Het |
| Pcf11 |
A |
G |
7: 92,310,894 (GRCm39) |
S365P |
possibly damaging |
Het |
| Pcnx4 |
T |
G |
12: 72,626,151 (GRCm39) |
V1119G |
probably damaging |
Het |
| Qng1 |
A |
G |
13: 58,529,790 (GRCm39) |
V274A |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,334,791 (GRCm39) |
T1308M |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,024 (GRCm39) |
L647P |
probably damaging |
Het |
| Slc28a2b |
A |
C |
2: 122,355,277 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
A |
G |
14: 54,972,581 (GRCm39) |
V280A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,029,177 (GRCm39) |
F323I |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,420,589 (GRCm39) |
D70E |
probably benign |
Het |
| Tmco5b |
G |
T |
2: 113,118,143 (GRCm39) |
|
probably benign |
Het |
| Trav10 |
G |
A |
14: 53,743,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,489,477 (GRCm39) |
M454K |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Yipf7 |
T |
C |
5: 69,676,660 (GRCm39) |
I160V |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,539,132 (GRCm39) |
S91L |
probably damaging |
Het |
|
| Other mutations in Tmc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01661:Tmc4
|
APN |
7 |
3,669,926 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02163:Tmc4
|
APN |
7 |
3,669,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03149:Tmc4
|
APN |
7 |
3,670,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Tmc4
|
UTSW |
7 |
3,669,866 (GRCm39) |
missense |
probably benign |
|
|
R0233:Tmc4
|
UTSW |
7 |
3,669,866 (GRCm39) |
missense |
probably benign |
|
|
R0483:Tmc4
|
UTSW |
7 |
3,670,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2406:Tmc4
|
UTSW |
7 |
3,674,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3834:Tmc4
|
UTSW |
7 |
3,675,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3897:Tmc4
|
UTSW |
7 |
3,674,087 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4434:Tmc4
|
UTSW |
7 |
3,675,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4664:Tmc4
|
UTSW |
7 |
3,674,270 (GRCm39) |
splice site |
probably null |
|
|
R4666:Tmc4
|
UTSW |
7 |
3,674,270 (GRCm39) |
splice site |
probably null |
|
|
R5764:Tmc4
|
UTSW |
7 |
3,675,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5914:Tmc4
|
UTSW |
7 |
3,675,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6077:Tmc4
|
UTSW |
7 |
3,670,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6090:Tmc4
|
UTSW |
7 |
3,674,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Tmc4
|
UTSW |
7 |
3,680,421 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6362:Tmc4
|
UTSW |
7 |
3,678,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6616:Tmc4
|
UTSW |
7 |
3,674,057 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7317:Tmc4
|
UTSW |
7 |
3,672,918 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7696:Tmc4
|
UTSW |
7 |
3,672,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8291:Tmc4
|
UTSW |
7 |
3,674,421 (GRCm39) |
missense |
probably benign |
|
|
R8710:Tmc4
|
UTSW |
7 |
3,678,463 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9214:Tmc4
|
UTSW |
7 |
3,670,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9273:Tmc4
|
UTSW |
7 |
3,670,552 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9314:Tmc4
|
UTSW |
7 |
3,679,723 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
X0022:Tmc4
|
UTSW |
7 |
3,674,040 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0028:Tmc4
|
UTSW |
7 |
3,678,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-28 |
Incidental Mutation