Incidental Mutation 'R4455:Clca4a'
ID |
329128 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clca4a
|
Ensembl Gene |
ENSMUSG00000068547 |
Gene Name |
chloride channel accessory 4A |
Synonyms |
Clca6, 9130020L07Rik |
MMRRC Submission |
041715-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.367)
|
Stock # |
R4455 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
144658247-144680806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 144663020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 610
(P610S)
|
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: P610S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029923 Gene: ENSMUSG00000068547 AA Change: P610S
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 |
probably damaging
Transcript: ENSMUST00000075496
AA Change: P528S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000074939 Gene: ENSMUSG00000068547 AA Change: P528S
Domain | Start | End | E-Value | Type |
Pfam:CLCA_N
|
1 |
263 |
1e-141 |
PFAM |
low complexity region
|
285 |
299 |
N/A |
INTRINSIC |
VWA
|
305 |
470 |
4.45e-2 |
SMART |
Blast:FN3
|
675 |
756 |
8e-33 |
BLAST |
transmembrane domain
|
808 |
830 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136170
|
Meta Mutation Damage Score |
0.3323 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
G |
9: 108,274,395 (GRCm39) |
H166R |
possibly damaging |
Het |
Aktip |
T |
C |
8: 91,851,479 (GRCm39) |
E248G |
probably benign |
Het |
Ankk1 |
A |
G |
9: 49,329,366 (GRCm39) |
V336A |
probably benign |
Het |
Aoc1 |
T |
A |
6: 48,882,401 (GRCm39) |
D92E |
probably damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,964,394 (GRCm39) |
N134I |
possibly damaging |
Het |
Arfgef2 |
T |
C |
2: 166,736,635 (GRCm39) |
I1769T |
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,483,423 (GRCm39) |
S1434T |
probably benign |
Het |
Baz1a |
C |
A |
12: 54,958,153 (GRCm39) |
V1033L |
probably benign |
Het |
Bbs12 |
T |
C |
3: 37,374,461 (GRCm39) |
V418A |
probably damaging |
Het |
Cacnb4 |
A |
G |
2: 52,355,665 (GRCm39) |
V214A |
probably damaging |
Het |
Calhm6 |
A |
T |
10: 34,002,531 (GRCm39) |
I184N |
probably damaging |
Het |
Camk2d |
T |
C |
3: 126,574,052 (GRCm39) |
V153A |
probably damaging |
Het |
Ccdc18 |
C |
T |
5: 108,309,395 (GRCm39) |
S330L |
possibly damaging |
Het |
Cdh11 |
T |
C |
8: 103,374,455 (GRCm39) |
D500G |
probably benign |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,172,031 (GRCm39) |
L807P |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,563,103 (GRCm39) |
L869P |
probably damaging |
Het |
Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
Grb10 |
T |
G |
11: 11,917,665 (GRCm39) |
Q72P |
possibly damaging |
Het |
H3f3a |
G |
T |
1: 180,630,668 (GRCm39) |
R129S |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,034,374 (GRCm39) |
|
probably null |
Het |
Kansl1 |
T |
C |
11: 104,315,184 (GRCm39) |
T285A |
possibly damaging |
Het |
Krtap16-1 |
A |
T |
11: 99,876,559 (GRCm39) |
C282S |
probably benign |
Het |
Magi1 |
A |
G |
6: 93,762,438 (GRCm39) |
V89A |
probably damaging |
Het |
Mllt1 |
A |
G |
17: 57,226,965 (GRCm39) |
Y71H |
probably damaging |
Het |
Ms4a14 |
T |
A |
19: 11,280,990 (GRCm39) |
T523S |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,412,555 (GRCm39) |
S1834P |
unknown |
Het |
Necap1 |
C |
T |
6: 122,864,328 (GRCm39) |
S270F |
possibly damaging |
Het |
Piwil2 |
T |
C |
14: 70,628,014 (GRCm39) |
M752V |
probably benign |
Het |
Prune1 |
G |
A |
3: 95,189,207 (GRCm39) |
|
probably null |
Het |
Ptpro |
A |
G |
6: 137,370,657 (GRCm39) |
E586G |
probably damaging |
Het |
Rela |
T |
A |
19: 5,697,290 (GRCm39) |
I499K |
probably damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Scara5 |
T |
A |
14: 66,000,196 (GRCm39) |
D455E |
probably benign |
Het |
Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
Sspo |
C |
T |
6: 48,442,450 (GRCm39) |
R1982C |
probably damaging |
Het |
Tsen34 |
G |
A |
7: 3,698,097 (GRCm39) |
|
probably null |
Het |
Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
Utp18 |
G |
A |
11: 93,776,273 (GRCm39) |
R71C |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,855,698 (GRCm39) |
|
probably benign |
Het |
Yeats2 |
A |
G |
16: 19,980,743 (GRCm39) |
K187R |
possibly damaging |
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 |
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 |
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'- AGGAACACATGACACATTTGGAAC -3'
(R):5'- TCAGTACCTGAGGAATCAAGACC -3'
Sequencing Primer
(F):5'- CACATGACACATTTGGAACTATAAAC -3'
(R):5'- CGTTGGACACTAAATGCTTGC -3'
|
Posted On |
2015-07-21 |