Incidental Mutation 'R8291:Tmc4'
| ID |
638698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc4
|
| Ensembl Gene |
ENSMUSG00000019734 |
| Gene Name |
transmembrane channel-like gene family 4 |
| Synonyms |
|
| MMRRC Submission |
067713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3668790-3680522 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3674421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 310
(V310A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038743]
[ENSMUST00000121743]
[ENSMUST00000145034]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038743
AA Change: V310A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734
AA Change: V310A
| 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 |
probably benign
Transcript: ENSMUST00000121743
AA Change: V243A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112541
Gene: ENSMUSG00000019734
AA Change: V243A
| 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: ENSMUST00000145034
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,655,017 (GRCm39) |
V1447G |
probably damaging |
Het |
| Adgrf2 |
A |
T |
17: 43,021,451 (GRCm39) |
F458I |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,556,554 (GRCm39) |
E571G |
possibly damaging |
Het |
| Ap1b1 |
T |
A |
11: 4,968,027 (GRCm39) |
N179K |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,715,169 (GRCm39) |
F2053L |
probably damaging |
Het |
| Ddx18 |
A |
G |
1: 121,487,904 (GRCm39) |
V378A |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,263,743 (GRCm39) |
F826S |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,984,701 (GRCm39) |
N3133S |
probably damaging |
Het |
| Fam111a |
A |
G |
19: 12,564,943 (GRCm39) |
T275A |
probably benign |
Het |
| Gm5862 |
A |
T |
5: 26,224,444 (GRCm39) |
V175E |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,331,990 (GRCm39) |
S106P |
possibly damaging |
Het |
| Kmt2b |
A |
G |
7: 30,284,894 (GRCm39) |
L666P |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,425,572 (GRCm39) |
D686G |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,950,432 (GRCm39) |
|
probably null |
Het |
| Or8g52 |
T |
C |
9: 39,630,841 (GRCm39) |
V106A |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,573,662 (GRCm39) |
V323A |
possibly damaging |
Het |
| Prkab2 |
A |
G |
3: 97,569,605 (GRCm39) |
E57G |
possibly damaging |
Het |
| Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
| Smyd2 |
A |
T |
1: 189,632,288 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,968,166 (GRCm39) |
I1208F |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,887,138 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
A |
G |
3: 134,637,910 (GRCm39) |
R356G |
possibly damaging |
Het |
| Tmem205 |
G |
A |
9: 21,832,354 (GRCm39) |
L186F |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,617,553 (GRCm39) |
E16306G |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,915,538 (GRCm39) |
*497W |
probably null |
Het |
| Ubr1 |
G |
A |
2: 120,741,596 (GRCm39) |
T979I |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,255 (GRCm39) |
I259N |
possibly damaging |
Het |
| Vmp1 |
G |
A |
11: 86,498,064 (GRCm39) |
P284S |
probably damaging |
Het |
| Wdsub1 |
A |
G |
2: 59,693,018 (GRCm39) |
S299P |
probably damaging |
Het |
| Zfp438 |
G |
T |
18: 5,211,010 (GRCm39) |
S676* |
probably null |
Het |
| Zfp94 |
T |
A |
7: 24,002,155 (GRCm39) |
Y429F |
probably damaging |
Het |
|
| Other mutations in Tmc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Tmc4
|
APN |
7 |
3,678,517 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGTTCTAGGACCCAAGGAC -3'
(R):5'- ACTAAGGAGTGGCAGACCTG -3'
Sequencing Primer
(F):5'- TTCTAGGACCCAAGGACCCTCC -3'
(R):5'- ACCTGGGATGCAAGTCCAGAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation