Incidental Mutation 'R5764:Tmc4'
ID |
446173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmc4
|
Ensembl Gene |
ENSMUSG00000019734 |
Gene Name |
transmembrane channel-like gene family 4 |
Synonyms |
|
MMRRC Submission |
043365-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R5764 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
3668790-3680522 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3675022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 283
(F283L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038743]
[ENSMUST00000121743]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038743
AA Change: F283L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000043853 Gene: ENSMUSG00000019734 AA Change: F283L
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 damaging
Transcript: ENSMUST00000121743
AA Change: F216L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112541 Gene: ENSMUSG00000019734 AA Change: F216L
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
G |
A |
15: 74,413,423 (GRCm39) |
V536I |
possibly damaging |
Het |
Arap2 |
T |
C |
5: 62,800,197 (GRCm39) |
T1277A |
probably damaging |
Het |
Cep85l |
A |
T |
10: 53,225,090 (GRCm39) |
D166E |
probably benign |
Het |
Cope |
T |
C |
8: 70,759,231 (GRCm39) |
S125P |
probably damaging |
Het |
Dzip3 |
A |
G |
16: 48,747,724 (GRCm39) |
|
probably benign |
Het |
Endou |
G |
A |
15: 97,612,488 (GRCm39) |
R253C |
probably damaging |
Het |
Entpd1 |
A |
T |
19: 40,727,417 (GRCm39) |
|
probably null |
Het |
Fhip1a |
A |
G |
3: 85,573,172 (GRCm39) |
Y926H |
probably damaging |
Het |
Grk3 |
A |
G |
5: 113,114,776 (GRCm39) |
|
probably null |
Het |
Hba-a2 |
T |
A |
11: 32,247,156 (GRCm39) |
|
probably null |
Het |
Hecw1 |
C |
T |
13: 14,497,094 (GRCm39) |
V305I |
probably damaging |
Het |
Hspg2 |
C |
A |
4: 137,289,032 (GRCm39) |
T3735K |
probably damaging |
Het |
Htr4 |
G |
A |
18: 62,570,613 (GRCm39) |
A223T |
probably damaging |
Het |
Iglv1 |
T |
C |
16: 18,904,190 (GRCm39) |
I7M |
unknown |
Het |
Jag1 |
C |
T |
2: 136,931,167 (GRCm39) |
C655Y |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,062,291 (GRCm39) |
T1548I |
probably damaging |
Het |
Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
Klra6 |
T |
A |
6: 129,999,692 (GRCm39) |
Q92L |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,431,187 (GRCm39) |
N325S |
probably benign |
Het |
Ly75 |
C |
T |
2: 60,148,783 (GRCm39) |
R1182H |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,034 (GRCm39) |
S975P |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
Mpdz |
A |
G |
4: 81,274,683 (GRCm39) |
F180L |
probably benign |
Het |
Myadm |
G |
A |
7: 3,345,768 (GRCm39) |
V177I |
possibly damaging |
Het |
Ngly1 |
T |
A |
14: 16,260,799 (GRCm38) |
M161K |
probably benign |
Het |
Nup153 |
A |
G |
13: 46,840,803 (GRCm39) |
M255T |
probably damaging |
Het |
Pgm1 |
C |
T |
4: 99,822,043 (GRCm39) |
A303V |
probably damaging |
Het |
Pgr |
A |
T |
9: 8,900,538 (GRCm39) |
I24F |
probably benign |
Het |
Pigq |
A |
T |
17: 26,151,093 (GRCm39) |
I412N |
probably damaging |
Het |
Plod2 |
A |
G |
9: 92,485,074 (GRCm39) |
H525R |
probably damaging |
Het |
Polq |
T |
G |
16: 36,837,706 (GRCm39) |
M206R |
probably damaging |
Het |
Psap |
T |
A |
10: 60,129,186 (GRCm39) |
S100T |
probably benign |
Het |
Psme4 |
G |
A |
11: 30,722,364 (GRCm39) |
|
probably benign |
Het |
Serpina1d |
T |
A |
12: 103,732,080 (GRCm39) |
M260L |
probably benign |
Het |
Serpinf2 |
A |
G |
11: 75,328,230 (GRCm39) |
L106P |
possibly damaging |
Het |
Sumf1 |
C |
T |
6: 108,095,424 (GRCm39) |
|
probably benign |
Het |
Tcp1 |
A |
G |
17: 13,135,489 (GRCm39) |
T13A |
probably benign |
Het |
Tfap2a |
A |
C |
13: 40,881,831 (GRCm39) |
I185S |
possibly damaging |
Het |
Tlr2 |
A |
C |
3: 83,745,819 (GRCm39) |
I88S |
probably damaging |
Het |
Tox4 |
T |
C |
14: 52,523,277 (GRCm39) |
V79A |
probably damaging |
Het |
Trim10 |
A |
T |
17: 37,181,073 (GRCm39) |
E101D |
probably damaging |
Het |
Troap |
T |
A |
15: 98,973,300 (GRCm39) |
I22N |
probably damaging |
Het |
Unc13c |
C |
T |
9: 73,441,185 (GRCm39) |
|
probably null |
Het |
Utp4 |
T |
G |
8: 107,644,248 (GRCm39) |
V529G |
possibly damaging |
Het |
Zeb2 |
T |
C |
2: 44,886,931 (GRCm39) |
M664V |
possibly damaging |
Het |
Zfp180 |
A |
G |
7: 23,800,909 (GRCm39) |
Y53C |
possibly 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 |
|
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'- ATGAATTCCAGGTCCCAGC -3'
(R):5'- CTGACTTGAACAGGTGGCAC -3'
Sequencing Primer
(F):5'- TCCATGGCAGGCATTCCTAG -3'
(R):5'- ACCAACACTTCTCCTGTG -3'
|
Posted On |
2016-11-21 |