Incidental Mutation 'R3834:Tmc4'
| ID |
275539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc4
|
| Ensembl Gene |
ENSMUSG00000019734 |
| Gene Name |
transmembrane channel-like gene family 4 |
| Synonyms |
|
| MMRRC Submission |
040889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R3834 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3668790-3680522 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3675006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 222
(V222M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038743]
[ENSMUST00000121743]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038743
AA Change: V289M
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734
AA Change: V289M
| 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: V222M
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112541
Gene: ENSMUSG00000019734
AA Change: V222M
| 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 |
noncoding transcript
Transcript: ENSMUST00000130689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148313
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,964,683 (GRCm39) |
T1389A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,636,985 (GRCm39) |
|
probably benign |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Coq5 |
G |
T |
5: 115,422,635 (GRCm39) |
G180W |
probably damaging |
Het |
| Cyp2d34 |
A |
G |
15: 82,500,947 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
C |
T |
4: 95,944,794 (GRCm39) |
|
probably null |
Het |
| Fam114a1 |
C |
T |
5: 65,163,416 (GRCm39) |
T197I |
possibly damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,240,707 (GRCm39) |
Y227H |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,161 (GRCm39) |
H486L |
possibly damaging |
Het |
| Grik4 |
T |
C |
9: 42,540,419 (GRCm39) |
R254G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,304,380 (GRCm39) |
I47T |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,912,428 (GRCm39) |
Y278C |
probably damaging |
Het |
| Lbhd1 |
G |
A |
19: 8,861,421 (GRCm39) |
C43Y |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,886,816 (GRCm39) |
D201E |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,137,803 (GRCm39) |
G2635D |
probably damaging |
Het |
| Ms4a4a |
A |
T |
19: 11,356,219 (GRCm39) |
M35L |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Mug2 |
T |
C |
6: 122,026,746 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
A |
7: 49,195,606 (GRCm39) |
I994N |
possibly damaging |
Het |
| Ngly1 |
T |
C |
14: 16,290,766 (GRCm38) |
|
probably benign |
Het |
| Nr1i2 |
T |
C |
16: 38,074,291 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
A |
G |
7: 102,424,493 (GRCm39) |
Y254C |
probably damaging |
Het |
| Or52h9 |
T |
A |
7: 104,202,552 (GRCm39) |
V142D |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,279 (GRCm39) |
D194V |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,266 (GRCm39) |
V372I |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,720,796 (GRCm39) |
K48N |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,011,305 (GRCm39) |
N584I |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Rps20 |
A |
T |
4: 3,834,610 (GRCm39) |
I84N |
probably damaging |
Het |
| Scd3 |
A |
G |
19: 44,230,156 (GRCm39) |
Y313C |
probably damaging |
Het |
| Sertad2 |
T |
C |
11: 20,598,482 (GRCm39) |
I226T |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Slco1a1 |
G |
T |
6: 141,889,163 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,785,776 (GRCm39) |
I622N |
possibly damaging |
Het |
| Tmem145 |
T |
C |
7: 25,010,786 (GRCm39) |
F359L |
probably damaging |
Het |
| Tmem238 |
C |
A |
7: 4,792,078 (GRCm39) |
R155L |
possibly damaging |
Het |
| Vmn1r32 |
C |
A |
6: 66,530,647 (GRCm39) |
C43F |
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,250,183 (GRCm39) |
R696K |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAATTCCAGGTCCCAGCC -3'
(R):5'- TGACTTGAACAGGTGGCACC -3'
Sequencing Primer
(F):5'- ACCCCGTCAGTCTCCTC -3'
(R):5'- CTGGTCACAGGATTTTGAGTGTATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation