Incidental Mutation 'R9308:Clca4a'
ID |
705322 |
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: 0.332)
|
Stock # |
R9308 (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 G
at 144676183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 117
(E117A)
|
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: E117A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029923 Gene: ENSMUSG00000068547 AA Change: E117A
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
T |
17: 9,220,667 (GRCm39) |
E389* |
probably null |
Het |
2700049A03Rik |
T |
C |
12: 71,231,233 (GRCm39) |
V997A |
probably benign |
Het |
9930012K11Rik |
A |
G |
14: 70,393,863 (GRCm39) |
|
probably null |
Het |
Acss3 |
C |
G |
10: 106,959,282 (GRCm39) |
G55R |
possibly damaging |
Het |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Acy3 |
C |
T |
19: 4,038,451 (GRCm39) |
R193W |
probably damaging |
Het |
Adam15 |
T |
C |
3: 89,254,790 (GRCm39) |
D90G |
possibly damaging |
Het |
Adamts9 |
T |
C |
6: 92,857,875 (GRCm39) |
D833G |
probably benign |
Het |
Apoa2 |
A |
G |
1: 171,053,300 (GRCm39) |
S40G |
probably benign |
Het |
Arhgap21 |
A |
T |
2: 20,854,061 (GRCm39) |
M1777K |
probably damaging |
Het |
BC004004 |
A |
G |
17: 29,513,089 (GRCm39) |
E171G |
probably benign |
Het |
Cblb |
A |
G |
16: 52,009,374 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
T |
C |
4: 70,328,504 (GRCm39) |
M1V |
probably null |
Het |
Cps1 |
T |
C |
1: 67,200,118 (GRCm39) |
|
probably null |
Het |
Crygd |
T |
C |
1: 65,101,220 (GRCm39) |
N125S |
probably benign |
Het |
Csf1 |
T |
A |
3: 107,655,585 (GRCm39) |
H482L |
probably benign |
Het |
Cyp3a41a |
A |
G |
5: 145,656,858 (GRCm39) |
M1T |
probably null |
Het |
Dgkg |
C |
A |
16: 22,429,528 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
T |
C |
7: 105,353,484 (GRCm39) |
V2879A |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,728,744 (GRCm39) |
C1307* |
probably null |
Het |
Exoc1 |
T |
A |
5: 76,706,968 (GRCm39) |
M505K |
probably benign |
Het |
Fam131a |
A |
G |
16: 20,520,582 (GRCm39) |
D345G |
probably damaging |
Het |
Fbxw17 |
G |
T |
13: 50,572,004 (GRCm39) |
R24L |
probably benign |
Het |
Gmcl1 |
A |
C |
6: 86,691,239 (GRCm39) |
I252R |
possibly damaging |
Het |
Gpr150 |
G |
A |
13: 76,203,701 (GRCm39) |
R415C |
probably damaging |
Het |
Gtf3c4 |
G |
A |
2: 28,724,982 (GRCm39) |
S250L |
probably damaging |
Het |
Irs3 |
G |
A |
5: 137,642,343 (GRCm39) |
A365V |
possibly damaging |
Het |
Jph4 |
C |
A |
14: 55,346,981 (GRCm39) |
G522V |
probably damaging |
Het |
Kcnn1 |
C |
T |
8: 71,305,434 (GRCm39) |
G302R |
probably damaging |
Het |
Ksr1 |
A |
T |
11: 78,918,291 (GRCm39) |
L621H |
probably damaging |
Het |
Lrrn3 |
T |
C |
12: 41,503,945 (GRCm39) |
E124G |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,970,722 (GRCm39) |
L203P |
probably damaging |
Het |
Mapk15 |
T |
A |
15: 75,865,714 (GRCm39) |
C2* |
probably null |
Het |
Mga |
T |
A |
2: 119,754,369 (GRCm39) |
N959K |
possibly damaging |
Het |
Mrgprb2 |
A |
T |
7: 48,202,655 (GRCm39) |
N23K |
possibly damaging |
Het |
Myo10 |
G |
T |
15: 25,781,862 (GRCm39) |
S1119I |
probably damaging |
Het |
Or12e13 |
G |
A |
2: 87,663,523 (GRCm39) |
G47R |
probably damaging |
Het |
Or14j4 |
A |
G |
17: 37,921,246 (GRCm39) |
V132A |
possibly damaging |
Het |
Or2a12 |
G |
T |
6: 42,904,749 (GRCm39) |
V195F |
probably benign |
Het |
Or2a25 |
A |
T |
6: 42,888,931 (GRCm39) |
H158L |
probably damaging |
Het |
Or6k6 |
A |
G |
1: 173,945,501 (GRCm39) |
V27A |
probably benign |
Het |
Ovch2 |
T |
C |
7: 107,389,560 (GRCm39) |
E329G |
probably benign |
Het |
Pkn2 |
C |
T |
3: 142,517,724 (GRCm39) |
R458Q |
probably benign |
Het |
Pnpt1 |
T |
C |
11: 29,097,535 (GRCm39) |
|
probably null |
Het |
Ppfia4 |
A |
G |
1: 134,245,556 (GRCm39) |
V666A |
probably benign |
Het |
Psmb10 |
T |
C |
8: 106,662,662 (GRCm39) |
R226G |
probably damaging |
Het |
Ptpn5 |
A |
G |
7: 46,740,569 (GRCm39) |
V78A |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,450,850 (GRCm39) |
M1004V |
probably benign |
Het |
Pygb |
T |
A |
2: 150,668,297 (GRCm39) |
S626T |
probably benign |
Het |
Rad21l |
T |
C |
2: 151,491,049 (GRCm39) |
T473A |
probably benign |
Het |
Rassf7 |
T |
C |
7: 140,798,063 (GRCm39) |
S344P |
probably benign |
Het |
Rbbp6 |
T |
C |
7: 122,596,221 (GRCm39) |
S550P |
probably damaging |
Het |
Rhpn2 |
T |
C |
7: 35,033,805 (GRCm39) |
L13P |
possibly damaging |
Het |
Rps11 |
C |
T |
7: 44,772,614 (GRCm39) |
V66I |
probably benign |
Het |
Slc22a18 |
T |
C |
7: 143,044,617 (GRCm39) |
V190A |
probably benign |
Het |
Smad1 |
T |
C |
8: 80,098,899 (GRCm39) |
|
probably benign |
Het |
Spock2 |
A |
G |
10: 59,965,556 (GRCm39) |
K327E |
possibly damaging |
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Tom1l1 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
11: 90,540,648 (GRCm39) |
|
probably benign |
Het |
Traj22 |
T |
C |
14: 54,434,729 (GRCm39) |
I8T |
|
Het |
Txnl1 |
T |
C |
18: 63,812,446 (GRCm39) |
D116G |
probably benign |
Het |
Ush1g |
A |
T |
11: 115,209,534 (GRCm39) |
L220Q |
probably damaging |
Het |
Vmn2r10 |
C |
A |
5: 109,145,476 (GRCm39) |
E544* |
probably null |
Het |
Vmn2r17 |
T |
C |
5: 109,600,505 (GRCm39) |
V601A |
probably damaging |
Het |
Zc3h13 |
C |
T |
14: 75,565,418 (GRCm39) |
R844W |
unknown |
Het |
Zfpm1 |
A |
C |
8: 123,034,231 (GRCm39) |
D55A |
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 |
R9373:Clca4a
|
UTSW |
3 |
144,672,133 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9488:Clca4a
|
UTSW |
3 |
144,659,532 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGAACCAAGTATTTCTGTTCCATTC -3'
(R):5'- GAAAGACAGTCCCCAGTACAGG -3'
Sequencing Primer
(F):5'- CAAGTATTTCTGTTCCATTCTGATTG -3'
(R):5'- AGTCCCCAGTACAGGAGGCC -3'
|
Posted On |
2022-03-25 |