Incidental Mutation 'R9772:Clca4a'
| ID |
733475 |
| 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 # |
R9772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144658247-144680806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 144676422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 86
(W86L)
|
| 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: W86L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: W86L
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
T |
2: 26,985,666 (GRCm39) |
I517F |
probably benign |
Het |
| Ankdd1a |
A |
G |
9: 65,408,749 (GRCm39) |
C506R |
probably damaging |
Het |
| Arid3c |
T |
C |
4: 41,724,723 (GRCm39) |
N371D |
probably damaging |
Het |
| Ccdc117 |
C |
T |
11: 5,492,042 (GRCm39) |
R6Q |
possibly damaging |
Het |
| Ccdc78 |
C |
T |
17: 26,005,665 (GRCm39) |
R26* |
probably null |
Het |
| Clrn2 |
C |
T |
5: 45,611,369 (GRCm39) |
Q73* |
probably null |
Het |
| Cpne6 |
A |
G |
14: 55,754,117 (GRCm39) |
D478G |
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,792,348 (GRCm39) |
I199L |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,786,522 (GRCm39) |
V90A |
probably benign |
Het |
| Dydc1 |
A |
G |
14: 40,804,248 (GRCm39) |
E90G |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,499,756 (GRCm39) |
S795T |
probably benign |
Het |
| Gm13090 |
G |
T |
4: 151,175,565 (GRCm39) |
A102S |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,869,425 (GRCm39) |
S87P |
unknown |
Het |
| Mesp2 |
A |
G |
7: 79,461,348 (GRCm39) |
I224M |
possibly damaging |
Het |
| Mettl25 |
T |
C |
10: 105,633,127 (GRCm39) |
R439G |
probably benign |
Het |
| Mettl27 |
C |
T |
5: 134,962,390 (GRCm39) |
R63W |
possibly damaging |
Het |
| Nap1l1 |
C |
T |
10: 111,325,911 (GRCm39) |
R77* |
probably null |
Het |
| Niban2 |
T |
C |
2: 32,795,868 (GRCm39) |
I48T |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,792,883 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
G |
11: 97,113,983 (GRCm39) |
I631T |
probably benign |
Het |
| Or4c105 |
G |
A |
2: 88,647,958 (GRCm39) |
V148I |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,964 (GRCm39) |
C241* |
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,093,138 (GRCm39) |
L210Q |
probably damaging |
Het |
| Ppp2r1a |
A |
T |
17: 21,181,855 (GRCm39) |
I458F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,785 (GRCm39) |
E4347G |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,657,048 (GRCm39) |
I1911T |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,329,417 (GRCm39) |
I866T |
possibly damaging |
Het |
| Sfr1 |
G |
T |
19: 47,722,019 (GRCm39) |
C145F |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,551,175 (GRCm39) |
Y230N |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,818,849 (GRCm39) |
V89A |
|
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 56,990,765 (GRCm39) |
I671T |
probably damaging |
Het |
| Trub1 |
G |
A |
19: 57,472,075 (GRCm39) |
V184I |
probably benign |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
C |
17: 78,932,398 (GRCm39) |
T502P |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,923 (GRCm39) |
G594R |
probably 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 |
|
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 |
|
R9488:Clca4a
|
UTSW |
3 |
144,659,532 (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'- GGTGCCACTTTAATGTCAGC -3'
(R):5'- TAACAGCTTAACAGGGTTCACC -3'
Sequencing Primer
(F):5'- GCCACTTTAATGTCAGCCTGAGAATG -3'
(R):5'- GTTCACCAGAGAAGTGCACCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation