Incidental Mutation 'R9373:Clca4a'
ID |
709427 |
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 # |
R9373 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
144658247-144680806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 144672133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 270
(N270Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029923]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029923
AA Change: N270Y
PolyPhen 2
Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000029923 Gene: ENSMUSG00000068547 AA Change: N270Y
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 |
|
Meta Mutation Damage Score |
0.4889 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
2310003L06Rik |
A |
C |
5: 88,120,668 (GRCm39) |
D475A |
probably benign |
Het |
Aatk |
T |
C |
11: 119,906,343 (GRCm39) |
M243V |
possibly damaging |
Het |
Acox1 |
A |
T |
11: 116,065,173 (GRCm39) |
N627K |
possibly damaging |
Het |
Adal |
A |
G |
2: 120,980,703 (GRCm39) |
Y142C |
probably benign |
Het |
Agfg2 |
A |
G |
5: 137,662,476 (GRCm39) |
|
probably null |
Het |
Ajap1 |
C |
T |
4: 153,516,670 (GRCm39) |
A224T |
probably benign |
Het |
Alg1 |
T |
C |
16: 5,056,990 (GRCm39) |
F234L |
probably benign |
Het |
Arhgap27 |
G |
T |
11: 103,251,287 (GRCm39) |
A147E |
possibly damaging |
Het |
C9orf72 |
A |
G |
4: 35,196,985 (GRCm39) |
F360S |
|
Het |
Cachd1 |
T |
C |
4: 100,832,067 (GRCm39) |
V743A |
possibly damaging |
Het |
Cc2d2b |
G |
A |
19: 40,784,167 (GRCm39) |
V655I |
unknown |
Het |
Cd72 |
T |
C |
4: 43,450,141 (GRCm39) |
S256G |
possibly damaging |
Het |
Celf2 |
G |
T |
2: 6,551,915 (GRCm39) |
N521K |
probably benign |
Het |
Clvs2 |
A |
T |
10: 33,404,382 (GRCm39) |
V278E |
probably benign |
Het |
Cwf19l2 |
T |
C |
9: 3,454,718 (GRCm39) |
F677S |
probably damaging |
Het |
Dnaaf4 |
A |
G |
9: 72,871,462 (GRCm39) |
T241A |
probably damaging |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Epdr1 |
T |
C |
13: 19,778,707 (GRCm39) |
N130D |
possibly damaging |
Het |
Fam184a |
G |
A |
10: 53,566,115 (GRCm39) |
R491W |
probably benign |
Het |
Foxp2 |
A |
G |
6: 15,377,969 (GRCm39) |
Q160R |
unknown |
Het |
Fstl5 |
T |
A |
3: 76,555,669 (GRCm39) |
Y515* |
probably null |
Het |
Garin5b |
T |
C |
7: 4,760,712 (GRCm39) |
M667V |
|
Het |
Helz2 |
G |
T |
2: 180,882,741 (GRCm39) |
N17K |
probably benign |
Het |
Irag1 |
A |
G |
7: 110,545,038 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
C |
T |
10: 66,932,495 (GRCm39) |
|
probably benign |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Lrrn1 |
A |
C |
6: 107,545,465 (GRCm39) |
Q421P |
possibly damaging |
Het |
Mapk1 |
A |
G |
16: 16,836,154 (GRCm39) |
I101V |
probably benign |
Het |
Me2 |
T |
C |
18: 73,918,800 (GRCm39) |
E427G |
probably damaging |
Het |
Mrc1 |
G |
A |
2: 14,274,999 (GRCm39) |
M433I |
probably damaging |
Het |
Nelfb |
G |
A |
2: 25,095,218 (GRCm39) |
R324W |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,449,126 (GRCm39) |
I443K |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or5b118 |
A |
G |
19: 13,449,216 (GRCm39) |
E294G |
probably damaging |
Het |
Or8b50 |
G |
A |
9: 38,518,142 (GRCm39) |
C127Y |
possibly damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,750 (GRCm39) |
V212D |
probably damaging |
Het |
Or9g3 |
A |
T |
2: 85,590,275 (GRCm39) |
Y148* |
probably null |
Het |
Parvb |
C |
T |
15: 84,188,100 (GRCm39) |
T281I |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,099,502 (GRCm39) |
T1669A |
probably benign |
Het |
Runx3 |
A |
G |
4: 134,848,456 (GRCm39) |
T14A |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,261 (GRCm39) |
V1819A |
probably benign |
Het |
Senp1 |
T |
C |
15: 97,964,435 (GRCm39) |
T260A |
probably benign |
Het |
Serpinb10 |
A |
G |
1: 107,474,749 (GRCm39) |
R304G |
possibly damaging |
Het |
Spem1 |
C |
T |
11: 69,712,640 (GRCm39) |
C65Y |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,939,053 (GRCm39) |
V665A |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,930,713 (GRCm39) |
A1772T |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,752,690 (GRCm39) |
V891I |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,194,259 (GRCm39) |
D761G |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,944,681 (GRCm39) |
S1053G |
probably damaging |
Het |
Ubap2l |
A |
T |
3: 89,915,587 (GRCm39) |
Y985N |
unknown |
Het |
Vwc2l |
A |
T |
1: 70,768,218 (GRCm39) |
H94L |
probably damaging |
Het |
Wdr27 |
G |
A |
17: 15,154,795 (GRCm39) |
H41Y |
probably benign |
Het |
Zfp7 |
AGTGCGGGAAAGGTTTCCACCTG |
AG |
15: 76,774,798 (GRCm39) |
|
probably benign |
Het |
Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
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 |
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'- CGAGCCCAGGAACTTACAGT -3'
(R):5'- CATTCAATATATGTATGGGCATGCAT -3'
Sequencing Primer
(F):5'- GGAACTTACAGTCATACTCCCAG -3'
(R):5'- CAGCTGTCTAATTGAACCTGAGGC -3'
|
Posted On |
2022-04-18 |