Incidental Mutation 'R3897:Tmc4'
| ID |
309011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc4
|
| Ensembl Gene |
ENSMUSG00000019734 |
| Gene Name |
transmembrane channel-like gene family 4 |
| Synonyms |
|
| MMRRC Submission |
040808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R3897 (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 3674087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 364
(V364A)
|
| 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: V364A
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734
AA Change: V364A
| 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: V297A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112541
Gene: ENSMUSG00000019734
AA Change: V297A
| 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 |
0.0713 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,254,245 (GRCm39) |
H184R |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 110,581,631 (GRCm39) |
D633G |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,093,084 (GRCm39) |
R999H |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,273,988 (GRCm39) |
S341P |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,189 (GRCm39) |
E633G |
possibly damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,072,306 (GRCm39) |
M275I |
probably damaging |
Het |
| Commd7 |
T |
C |
2: 153,464,710 (GRCm39) |
T23A |
probably benign |
Het |
| Cts3 |
A |
G |
13: 61,712,800 (GRCm39) |
Y307H |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,587,989 (GRCm39) |
P89Q |
probably damaging |
Het |
| Ecm1 |
A |
G |
3: 95,643,298 (GRCm39) |
L334P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,214,939 (GRCm39) |
V674I |
possibly damaging |
Het |
| Gosr2 |
A |
G |
11: 103,588,472 (GRCm39) |
Y5H |
possibly damaging |
Het |
| Gria4 |
T |
A |
9: 4,513,260 (GRCm39) |
D283V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Iqcm |
C |
T |
8: 76,480,028 (GRCm39) |
R329C |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,703,955 (GRCm39) |
C233R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,581,011 (GRCm39) |
C391R |
probably damaging |
Het |
| Man2b1 |
G |
T |
8: 85,823,577 (GRCm39) |
|
probably benign |
Het |
| Mgat4f |
A |
G |
1: 134,318,176 (GRCm39) |
D316G |
possibly damaging |
Het |
| Nisch |
A |
G |
14: 30,912,957 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
G |
19: 6,569,287 (GRCm39) |
D1394E |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,153 (GRCm39) |
E102G |
probably benign |
Het |
| Or4k77 |
T |
C |
2: 111,199,106 (GRCm39) |
L43P |
possibly damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,056 (GRCm39) |
D165G |
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,896,817 (GRCm39) |
|
probably null |
Het |
| Psd |
A |
C |
19: 46,313,024 (GRCm39) |
N115K |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rnf144a |
A |
G |
12: 26,360,712 (GRCm39) |
V275A |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,118,739 (GRCm39) |
F356L |
probably benign |
Het |
| Tmem203 |
T |
C |
2: 25,145,935 (GRCm39) |
F85S |
probably benign |
Het |
| Tra2a |
T |
C |
6: 49,222,476 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
C |
T |
2: 66,065,413 (GRCm39) |
E454K |
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 |
|
R3834:Tmc4
|
UTSW |
7 |
3,675,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TTCCCATCCCATGAGTCCAG -3'
(R):5'- TTCTATGGCATCTACTGGGCC -3'
Sequencing Primer
(F):5'- TGAGTCCAGAACCTAAGCAGGATC -3'
(R):5'- CTTGACACTACAGGTACAGAGGGTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation