Incidental Mutation 'R6492:Clca4a'
| ID |
522941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca4a
|
| Ensembl Gene |
ENSMUSG00000068547 |
| Gene Name |
chloride channel accessory 4A |
| Synonyms |
Clca6, 9130020L07Rik |
| MMRRC Submission |
044624-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.332)
|
| Stock # |
R6492 (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 A
at 144663059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 597
(T597S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029923]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029923
AA Change: T597S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: T597S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136170
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,631,464 (GRCm39) |
T587I |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,691,667 (GRCm39) |
M1062K |
probably benign |
Het |
| Agbl4 |
G |
A |
4: 111,404,469 (GRCm39) |
D272N |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,058,261 (GRCm39) |
I2215F |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,109,784 (GRCm39) |
Q821H |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,729 (GRCm39) |
Y971C |
probably damaging |
Het |
| Atp6ap1l |
A |
T |
13: 91,031,841 (GRCm39) |
H280Q |
probably damaging |
Het |
| B4galt2 |
A |
T |
4: 117,734,164 (GRCm39) |
M291K |
probably damaging |
Het |
| Cachd1 |
G |
T |
4: 100,809,315 (GRCm39) |
V267F |
possibly damaging |
Het |
| Cadm2 |
G |
T |
16: 66,581,715 (GRCm39) |
L188M |
probably damaging |
Het |
| Ccn6 |
C |
T |
10: 39,030,983 (GRCm39) |
G180D |
probably benign |
Het |
| Ceacam19 |
T |
C |
7: 19,616,517 (GRCm39) |
N199S |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,746,476 (GRCm39) |
M279K |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,991,052 (GRCm39) |
M717L |
probably benign |
Het |
| Cp |
T |
C |
3: 20,036,186 (GRCm39) |
V777A |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,861,792 (GRCm39) |
D594G |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,778,734 (GRCm39) |
|
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
A |
G |
7: 118,583,800 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ikbke |
T |
C |
1: 131,186,955 (GRCm39) |
Y579C |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,201 (GRCm39) |
Y362C |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,466,978 (GRCm39) |
V365A |
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,578 (GRCm39) |
I105T |
probably damaging |
Het |
| Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
| Mettl22 |
T |
A |
16: 8,306,755 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
A |
G |
1: 127,399,301 (GRCm39) |
I619V |
probably benign |
Het |
| Nin |
T |
C |
12: 70,101,308 (GRCm39) |
I430V |
probably benign |
Het |
| Or52n2c |
C |
A |
7: 104,574,852 (GRCm39) |
A40S |
possibly damaging |
Het |
| Or5au1 |
A |
G |
14: 52,272,902 (GRCm39) |
F222S |
probably benign |
Het |
| Or5j3 |
T |
C |
2: 86,128,990 (GRCm39) |
F277L |
probably benign |
Het |
| Or5w22 |
C |
G |
2: 87,363,085 (GRCm39) |
A236G |
possibly damaging |
Het |
| Or8k3 |
T |
A |
2: 86,058,731 (GRCm39) |
I195F |
possibly damaging |
Het |
| Parvb |
T |
C |
15: 84,188,073 (GRCm39) |
L272P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,149,649 (GRCm39) |
K180E |
possibly damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,457,615 (GRCm39) |
T736M |
probably damaging |
Het |
| Plcb4 |
C |
T |
2: 135,814,991 (GRCm39) |
R760* |
probably null |
Het |
| Pramel6 |
C |
T |
2: 87,340,766 (GRCm39) |
T366I |
probably benign |
Het |
| Prr29 |
C |
T |
11: 106,266,062 (GRCm39) |
R42W |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,241,048 (GRCm39) |
I81V |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,649,478 (GRCm39) |
T294A |
probably benign |
Het |
| Ptprc |
A |
T |
1: 138,041,300 (GRCm39) |
|
probably null |
Het |
| Sin3b |
T |
A |
8: 73,460,118 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
T |
C |
1: 13,060,151 (GRCm39) |
Y190C |
probably damaging |
Het |
| Slco6c1 |
T |
G |
1: 97,053,538 (GRCm39) |
Y121S |
probably damaging |
Het |
| Srcap |
G |
T |
7: 127,121,317 (GRCm39) |
G217* |
probably null |
Het |
| Ss18 |
A |
T |
18: 14,784,145 (GRCm39) |
M181K |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,385,809 (GRCm39) |
T176A |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,955,971 (GRCm39) |
E579G |
probably damaging |
Het |
| Taf7 |
A |
G |
18: 37,776,159 (GRCm39) |
I136T |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Tyrp1 |
A |
G |
4: 80,759,018 (GRCm39) |
D297G |
probably null |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Wwp1 |
G |
A |
4: 19,650,299 (GRCm39) |
S289L |
possibly damaging |
Het |
| Xbp1 |
T |
C |
11: 5,471,005 (GRCm39) |
V4A |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,319,711 (GRCm39) |
Y105C |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 45,000,508 (GRCm39) |
|
probably benign |
Het |
| Zkscan8 |
A |
T |
13: 21,709,397 (GRCm39) |
I167N |
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 |
|
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 |
|
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 |
|
| Posted On |
2018-06-06 |
Incidental Mutation