Incidental Mutation 'R9488:Clca4a'
| ID |
716737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca4a
|
| Ensembl Gene |
ENSMUSG00000068547 |
| Gene Name |
chloride channel accessory 4A |
| Synonyms |
Clca6, 9130020L07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.367)
|
| Stock # |
R9488 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144658247-144680806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144659532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 775
(T775A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029923]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029923
AA Change: T775A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: T775A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
300 |
N/A |
INTRINSIC |
|
VWA
|
306 |
480 |
5.94e-16 |
SMART |
|
Blast:VWA
|
513 |
552 |
7e-18 |
BLAST |
|
Blast:FN3
|
757 |
838 |
8e-33 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,643,212 (GRCm39) |
I294L |
probably benign |
Het |
| Ankrd35 |
A |
T |
3: 96,589,343 (GRCm39) |
K187N |
probably damaging |
Het |
| Arhgap40 |
C |
T |
2: 158,391,571 (GRCm39) |
T631M |
possibly damaging |
Het |
| Arpin |
T |
C |
7: 79,584,979 (GRCm39) |
Y5C |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,728,724 (GRCm39) |
Y77C |
|
Het |
| Cdk17 |
A |
G |
10: 93,044,066 (GRCm39) |
K2E |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,049,260 (GRCm39) |
F86L |
probably benign |
Het |
| Cfap418 |
A |
G |
4: 10,893,271 (GRCm39) |
D130G |
probably damaging |
Het |
| Clvs2 |
T |
A |
10: 33,389,301 (GRCm39) |
D313V |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,741,788 (GRCm39) |
Y2377C |
probably damaging |
Het |
| Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,377,218 (GRCm39) |
R1668G |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,082,962 (GRCm39) |
V102E |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,631,337 (GRCm39) |
V210A |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,415,437 (GRCm39) |
R323G |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,904,533 (GRCm39) |
T129A |
probably benign |
Het |
| Gm572 |
A |
G |
4: 148,752,913 (GRCm39) |
H264R |
possibly damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,369,385 (GRCm39) |
T13A |
unknown |
Het |
| Ighv7-4 |
T |
C |
12: 114,186,619 (GRCm39) |
Y51C |
probably damaging |
Het |
| Irag2 |
G |
A |
6: 145,113,753 (GRCm39) |
R307Q |
probably damaging |
Het |
| Jam2 |
A |
G |
16: 84,619,676 (GRCm39) |
D289G |
probably damaging |
Het |
| Krt27 |
A |
G |
11: 99,239,535 (GRCm39) |
|
probably null |
Het |
| Lama5 |
T |
C |
2: 179,823,234 (GRCm39) |
N2704S |
possibly damaging |
Het |
| Lhx8 |
A |
T |
3: 154,033,764 (GRCm39) |
S70T |
possibly damaging |
Het |
| Lmo7 |
C |
A |
14: 102,122,783 (GRCm39) |
T324N |
possibly damaging |
Het |
| Man2a1 |
A |
G |
17: 65,040,734 (GRCm39) |
T907A |
possibly damaging |
Het |
| Map3k4 |
C |
T |
17: 12,489,860 (GRCm39) |
A524T |
probably damaging |
Het |
| Mga |
C |
T |
2: 119,795,304 (GRCm39) |
A2996V |
possibly damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,379,624 (GRCm39) |
M625K |
possibly damaging |
Het |
| Ncald |
T |
A |
15: 37,372,369 (GRCm39) |
N159Y |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,527,866 (GRCm39) |
T832A |
possibly damaging |
Het |
| P2rx5 |
T |
A |
11: 73,056,427 (GRCm39) |
I117N |
|
Het |
| Pcdhb3 |
C |
A |
18: 37,435,416 (GRCm39) |
R461S |
possibly damaging |
Het |
| Polr1b |
T |
C |
2: 128,967,417 (GRCm39) |
S937P |
probably damaging |
Het |
| Prep |
C |
A |
10: 44,996,807 (GRCm39) |
Q362K |
|
Het |
| Prg4 |
T |
C |
1: 150,327,024 (GRCm39) |
M342V |
probably benign |
Het |
| Prr14 |
A |
T |
7: 127,073,687 (GRCm39) |
T184S |
possibly damaging |
Het |
| Prss58 |
A |
G |
6: 40,874,382 (GRCm39) |
I98T |
probably benign |
Het |
| Pum3 |
T |
C |
19: 27,394,188 (GRCm39) |
T361A |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,591,067 (GRCm39) |
V424A |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,437,216 (GRCm39) |
I58N |
probably damaging |
Het |
| Slc13a3 |
T |
A |
2: 165,250,851 (GRCm39) |
Y506F |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,579,651 (GRCm39) |
V365A |
probably benign |
Het |
| Slc39a5 |
G |
A |
10: 128,233,628 (GRCm39) |
L290F |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,850,560 (GRCm39) |
V532A |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,759,436 (GRCm39) |
T161A |
probably benign |
Het |
| Tbl2 |
T |
A |
5: 135,187,471 (GRCm39) |
C243S |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,193,103 (GRCm39) |
S444T |
probably benign |
Het |
| Thoc1 |
C |
T |
18: 9,992,168 (GRCm39) |
L499F |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,913,942 (GRCm39) |
V1290A |
probably damaging |
Het |
| Tnpo1 |
T |
C |
13: 98,990,003 (GRCm39) |
D716G |
probably damaging |
Het |
| Tpp2 |
A |
T |
1: 44,041,272 (GRCm39) |
K1236N |
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,589 (GRCm39) |
V509A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,356,535 (GRCm39) |
T775A |
|
Het |
| Ubap2l |
T |
C |
3: 89,928,656 (GRCm39) |
T486A |
probably benign |
Het |
| Usp28 |
C |
A |
9: 48,935,288 (GRCm39) |
P457T |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,682,851 (GRCm39) |
I387V |
possibly damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,793 (GRCm39) |
D78G |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,447,880 (GRCm39) |
M537T |
possibly damaging |
Het |
| Wdr6 |
G |
A |
9: 108,453,182 (GRCm39) |
R234C |
probably damaging |
Het |
| Zfp1005 |
G |
A |
2: 150,110,477 (GRCm39) |
G389D |
unknown |
Het |
| Zfp949 |
C |
A |
9: 88,452,182 (GRCm39) |
T584N |
probably benign |
Het |
|
| Other mutations in Clca4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Clca4a
|
APN |
3 |
144,660,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01139:Clca4a
|
APN |
3 |
144,672,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01371:Clca4a
|
APN |
3 |
144,666,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01609:Clca4a
|
APN |
3 |
144,659,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Clca4a
|
APN |
3 |
144,663,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02172:Clca4a
|
APN |
3 |
144,676,155 (GRCm39) |
nonsense |
probably null |
|
|
IGL02217:Clca4a
|
APN |
3 |
144,667,757 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02514:Clca4a
|
APN |
3 |
144,660,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02975:Clca4a
|
APN |
3 |
144,669,530 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03025:Clca4a
|
APN |
3 |
144,663,079 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03049:Clca4a
|
APN |
3 |
144,676,516 (GRCm39) |
splice site |
probably benign |
|
|
IGL03058:Clca4a
|
APN |
3 |
144,667,595 (GRCm39) |
splice site |
probably benign |
|
|
IGL03259:Clca4a
|
APN |
3 |
144,663,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Clca4a
|
APN |
3 |
144,672,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03334:Clca4a
|
APN |
3 |
144,659,627 (GRCm39) |
missense |
probably benign |
0.28 |
|
PIT4142001:Clca4a
|
UTSW |
3 |
144,674,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Clca4a
|
UTSW |
3 |
144,666,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0316:Clca4a
|
UTSW |
3 |
144,659,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Clca4a
|
UTSW |
3 |
144,675,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0680:Clca4a
|
UTSW |
3 |
144,675,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0688:Clca4a
|
UTSW |
3 |
144,667,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1137:Clca4a
|
UTSW |
3 |
144,676,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Clca4a
|
UTSW |
3 |
144,658,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1719:Clca4a
|
UTSW |
3 |
144,669,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Clca4a
|
UTSW |
3 |
144,676,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3078:Clca4a
|
UTSW |
3 |
144,674,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3080:Clca4a
|
UTSW |
3 |
144,669,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Clca4a
|
UTSW |
3 |
144,680,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Clca4a
|
UTSW |
3 |
144,663,079 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4133:Clca4a
|
UTSW |
3 |
144,675,113 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4402:Clca4a
|
UTSW |
3 |
144,658,609 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4455:Clca4a
|
UTSW |
3 |
144,663,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Clca4a
|
UTSW |
3 |
144,660,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4683:Clca4a
|
UTSW |
3 |
144,660,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Clca4a
|
UTSW |
3 |
144,660,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Clca4a
|
UTSW |
3 |
144,659,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:Clca4a
|
UTSW |
3 |
144,676,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6311:Clca4a
|
UTSW |
3 |
144,672,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6492:Clca4a
|
UTSW |
3 |
144,663,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6493:Clca4a
|
UTSW |
3 |
144,663,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6494:Clca4a
|
UTSW |
3 |
144,663,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6861:Clca4a
|
UTSW |
3 |
144,676,416 (GRCm39) |
missense |
probably benign |
|
|
R7102:Clca4a
|
UTSW |
3 |
144,667,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7133:Clca4a
|
UTSW |
3 |
144,667,651 (GRCm39) |
nonsense |
probably null |
|
|
R7171:Clca4a
|
UTSW |
3 |
144,663,934 (GRCm39) |
missense |
probably benign |
|
|
R7516:Clca4a
|
UTSW |
3 |
144,672,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Clca4a
|
UTSW |
3 |
144,659,512 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7731:Clca4a
|
UTSW |
3 |
144,658,546 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7787:Clca4a
|
UTSW |
3 |
144,659,594 (GRCm39) |
missense |
probably benign |
|
|
R7820:Clca4a
|
UTSW |
3 |
144,666,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Clca4a
|
UTSW |
3 |
144,674,166 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7991:Clca4a
|
UTSW |
3 |
144,658,500 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8240:Clca4a
|
UTSW |
3 |
144,676,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Clca4a
|
UTSW |
3 |
144,676,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9373:Clca4a
|
UTSW |
3 |
144,672,133 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9772:Clca4a
|
UTSW |
3 |
144,676,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Clca4a
|
UTSW |
3 |
144,667,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTAAAAGACAGCTATGCAGGG -3'
(R):5'- AGAAAGCTGACTGACTGAGTTC -3'
Sequencing Primer
(F):5'- GGGAAAGTAAGACCTGTTTCATAAC -3'
(R):5'- AGCTGACTGACTGAGTTCTATAAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation