Incidental Mutation 'R2406:Tmc4'
| ID |
248006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc4
|
| Ensembl Gene |
ENSMUSG00000019734 |
| Gene Name |
transmembrane channel-like gene family 4 |
| Synonyms |
|
| MMRRC Submission |
040372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R2406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3668790-3680522 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3674025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 385
(F385L)
|
| 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: F385L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734
AA Change: F385L
| 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: F318L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112541
Gene: ENSMUSG00000019734
AA Change: F318L
| 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 |
probably benign
Transcript: ENSMUST00000145034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148313
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,352 (GRCm39) |
V230E |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,230,064 (GRCm39) |
|
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,473,344 (GRCm39) |
I180V |
possibly damaging |
Het |
| C9 |
T |
C |
15: 6,512,780 (GRCm39) |
S301P |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,268,558 (GRCm39) |
Q1214R |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,697,043 (GRCm39) |
I351T |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,741,723 (GRCm39) |
E1177G |
probably damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,070,312 (GRCm39) |
C198Y |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,182,795 (GRCm39) |
R871C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,457 (GRCm39) |
D433V |
probably benign |
Het |
| Eif4ebp1 |
A |
G |
8: 27,763,362 (GRCm39) |
I52V |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,394,195 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm10650 |
A |
G |
3: 127,833,530 (GRCm39) |
|
noncoding transcript |
Het |
| Helz |
G |
A |
11: 107,577,378 (GRCm39) |
A1910T |
unknown |
Het |
| Hsf2 |
C |
T |
10: 57,373,642 (GRCm39) |
T70I |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,437,447 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,372,546 (GRCm39) |
D933G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,429,346 (GRCm39) |
I832T |
probably damaging |
Het |
| Mapk15 |
T |
C |
15: 75,870,697 (GRCm39) |
S512P |
possibly damaging |
Het |
| Mybpc2 |
A |
T |
7: 44,171,149 (GRCm39) |
I134N |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,150,000 (GRCm39) |
E1853G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,279 (GRCm39) |
V690A |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,991 (GRCm39) |
V51A |
probably benign |
Het |
| Pacsin2 |
A |
T |
15: 83,269,313 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,155,596 (GRCm39) |
L2416Q |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,144,858 (GRCm39) |
I233N |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,865,631 (GRCm39) |
D428G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,126,501 (GRCm39) |
D84G |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,120,359 (GRCm39) |
D798G |
probably benign |
Het |
| Setd7 |
A |
G |
3: 51,450,097 (GRCm39) |
Y110H |
probably damaging |
Het |
| Sgta |
T |
C |
10: 80,887,081 (GRCm39) |
I61M |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 44,006,376 (GRCm39) |
D2031G |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,799,864 (GRCm39) |
Y88H |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,851,696 (GRCm39) |
D153E |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,499,945 (GRCm39) |
I872V |
probably benign |
Het |
| Top3a |
A |
G |
11: 60,646,838 (GRCm39) |
F258L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,780,499 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Ubtf |
A |
T |
11: 102,199,528 (GRCm39) |
Y504* |
probably null |
Het |
| Wdfy3 |
T |
C |
5: 102,036,125 (GRCm39) |
T2098A |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,964 (GRCm39) |
T1194K |
possibly damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,725,879 (GRCm39) |
E560V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGGATTAAAGGCGTGC -3'
(R):5'- ATTTCCACAGGTGAAGAAGCCC -3'
Sequencing Primer
(F):5'- ACCACGCCCGGCTCTTC -3'
(R):5'- CCCTGTGGCAGTGAACTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation