Incidental Mutation 'R7063:Clca3a1'
| ID |
548384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3a1
|
| Ensembl Gene |
ENSMUSG00000056025 |
| Gene Name |
chloride channel accessory 3A1 |
| Synonyms |
Clca1 |
| MMRRC Submission |
045159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R7063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
144729677-144760977 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144755206 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 228
(D228V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029932]
[ENSMUST00000059091]
|
| AlphaFold |
Q9QX15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029932
AA Change: D228V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: D228V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLCA_N
|
1 |
262 |
5.8e-144 |
PFAM |
|
VWA
|
306 |
473 |
1.81e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059091
AA Change: D228V
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: D228V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
306 |
478 |
1.44e-23 |
SMART |
|
Blast:FN3
|
758 |
857 |
2e-44 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
G |
7: 16,565,113 (GRCm38) |
V9A |
probably benign |
Het |
| Btbd6 |
A |
G |
12: 112,977,512 (GRCm38) |
Y148C |
probably damaging |
Het |
| C130060K24Rik |
A |
G |
6: 65,441,403 (GRCm38) |
|
probably benign |
Het |
| Casr |
T |
C |
16: 36,494,574 (GRCm38) |
I968V |
probably benign |
Het |
| Celf1 |
T |
C |
2: 91,012,844 (GRCm38) |
|
probably null |
Het |
| Chst2 |
G |
T |
9: 95,405,568 (GRCm38) |
R242S |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,532 (GRCm38) |
Y288C |
probably benign |
Het |
| Cyp2r1 |
A |
G |
7: 114,552,949 (GRCm38) |
S49P |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,233,248 (GRCm38) |
E251G |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,483,036 (GRCm38) |
R199G |
possibly damaging |
Het |
| Fat1 |
C |
T |
8: 45,040,775 (GRCm38) |
T3986I |
probably benign |
Het |
| Gbp4 |
G |
A |
5: 105,118,448 (GRCm38) |
R576C |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 30,925,558 (GRCm38) |
Y235C |
probably damaging |
Het |
| Gm31371 |
G |
A |
8: 19,903,412 (GRCm38) |
C7Y |
|
Het |
| Gm6408 |
T |
C |
5: 146,483,784 (GRCm38) |
I158T |
probably benign |
Het |
| Gpr89 |
C |
G |
3: 96,875,698 (GRCm38) |
R312P |
probably damaging |
Het |
| Idh2 |
A |
G |
7: 80,095,684 (GRCm38) |
V403A |
probably damaging |
Het |
| Lclat1 |
A |
G |
17: 73,239,991 (GRCm38) |
E301G |
possibly damaging |
Het |
| Lgmn |
A |
G |
12: 102,402,678 (GRCm38) |
Y181H |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,456,734 (GRCm38) |
Y417C |
probably damaging |
Het |
| Man1a |
G |
T |
10: 54,030,744 (GRCm38) |
N311K |
probably damaging |
Het |
| Nat10 |
G |
A |
2: 103,748,077 (GRCm38) |
L228F |
probably benign |
Het |
| Olfr1417 |
A |
G |
19: 11,828,184 (GRCm38) |
F281L |
probably damaging |
Het |
| Olfr1445 |
A |
G |
19: 12,884,085 (GRCm38) |
D68G |
probably damaging |
Het |
| Olfr476 |
C |
A |
7: 107,968,204 (GRCm38) |
A269E |
probably benign |
Het |
| Olfr958 |
T |
G |
9: 39,550,115 (GRCm38) |
Y252S |
possibly damaging |
Het |
| Pcmtd2 |
T |
A |
2: 181,854,983 (GRCm38) |
Y130* |
probably null |
Het |
| Rapgef5 |
A |
G |
12: 117,689,129 (GRCm38) |
D62G |
possibly damaging |
Het |
| Serpina3m |
A |
T |
12: 104,391,467 (GRCm38) |
I217L |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,172,048 (GRCm38) |
R802G |
possibly damaging |
Het |
| Sypl2 |
A |
T |
3: 108,217,655 (GRCm38) |
M130K |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,348,525 (GRCm38) |
L503Q |
probably damaging |
Het |
| Ubald2 |
A |
G |
11: 116,434,617 (GRCm38) |
Q60R |
probably benign |
Het |
| Vav1 |
C |
T |
17: 57,311,860 (GRCm38) |
Q673* |
probably null |
Het |
| Vgll2 |
T |
C |
10: 52,027,976 (GRCm38) |
S312P |
probably benign |
Het |
| Vmn1r191 |
C |
T |
13: 22,178,694 (GRCm38) |
A297T |
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,024,433 (GRCm38) |
I281F |
possibly damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,481,148 (GRCm38) |
Y30C |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,363,784 (GRCm38) |
N619S |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,239,253 (GRCm38) |
|
probably benign |
Het |
| Zfp7 |
A |
G |
15: 76,891,719 (GRCm38) |
I654V |
possibly damaging |
Het |
| Zmat2 |
A |
G |
18: 36,796,574 (GRCm38) |
N129S |
probably null |
Het |
|
| Other mutations in Clca3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00768:Clca3a1
|
APN |
3 |
144,755,251 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01331:Clca3a1
|
APN |
3 |
144,747,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01895:Clca3a1
|
APN |
3 |
144,747,572 (GRCm38) |
nonsense |
probably null |
|
|
IGL01940:Clca3a1
|
APN |
3 |
144,746,976 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02162:Clca3a1
|
APN |
3 |
144,754,803 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02200:Clca3a1
|
APN |
3 |
144,751,929 (GRCm38) |
splice site |
probably benign |
|
|
IGL03093:Clca3a1
|
APN |
3 |
144,747,501 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Lucha
|
UTSW |
3 |
144,749,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0256:Clca3a1
|
UTSW |
3 |
144,730,879 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0513:Clca3a1
|
UTSW |
3 |
144,760,562 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0543:Clca3a1
|
UTSW |
3 |
144,748,394 (GRCm38) |
splice site |
probably benign |
|
|
R1522:Clca3a1
|
UTSW |
3 |
144,755,171 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1744:Clca3a1
|
UTSW |
3 |
144,746,835 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1873:Clca3a1
|
UTSW |
3 |
144,746,829 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2238:Clca3a1
|
UTSW |
3 |
144,752,005 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2278:Clca3a1
|
UTSW |
3 |
144,758,024 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2516:Clca3a1
|
UTSW |
3 |
144,737,858 (GRCm38) |
splice site |
probably null |
|
|
R3737:Clca3a1
|
UTSW |
3 |
144,730,721 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3981:Clca3a1
|
UTSW |
3 |
144,755,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3982:Clca3a1
|
UTSW |
3 |
144,755,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3983:Clca3a1
|
UTSW |
3 |
144,755,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4038:Clca3a1
|
UTSW |
3 |
144,755,233 (GRCm38) |
missense |
probably benign |
0.35 |
|
R4382:Clca3a1
|
UTSW |
3 |
144,760,722 (GRCm38) |
start codon destroyed |
probably benign |
0.08 |
|
R4543:Clca3a1
|
UTSW |
3 |
144,746,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4766:Clca3a1
|
UTSW |
3 |
144,749,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4899:Clca3a1
|
UTSW |
3 |
144,737,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5090:Clca3a1
|
UTSW |
3 |
144,737,872 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5091:Clca3a1
|
UTSW |
3 |
144,730,722 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5205:Clca3a1
|
UTSW |
3 |
144,746,784 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5248:Clca3a1
|
UTSW |
3 |
144,737,136 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R5354:Clca3a1
|
UTSW |
3 |
144,737,005 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5871:Clca3a1
|
UTSW |
3 |
144,754,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5907:Clca3a1
|
UTSW |
3 |
144,749,642 (GRCm38) |
intron |
probably benign |
|
|
R5976:Clca3a1
|
UTSW |
3 |
144,746,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6190:Clca3a1
|
UTSW |
3 |
144,758,060 (GRCm38) |
missense |
probably benign |
0.40 |
|
R6193:Clca3a1
|
UTSW |
3 |
144,759,232 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6263:Clca3a1
|
UTSW |
3 |
144,749,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6299:Clca3a1
|
UTSW |
3 |
144,758,514 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6327:Clca3a1
|
UTSW |
3 |
144,730,797 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6497:Clca3a1
|
UTSW |
3 |
144,759,259 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6542:Clca3a1
|
UTSW |
3 |
144,759,260 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6547:Clca3a1
|
UTSW |
3 |
144,736,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6759:Clca3a1
|
UTSW |
3 |
144,749,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7032:Clca3a1
|
UTSW |
3 |
144,747,568 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7139:Clca3a1
|
UTSW |
3 |
144,755,302 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7638:Clca3a1
|
UTSW |
3 |
144,751,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7663:Clca3a1
|
UTSW |
3 |
144,737,036 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7792:Clca3a1
|
UTSW |
3 |
144,749,731 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7798:Clca3a1
|
UTSW |
3 |
144,757,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7892:Clca3a1
|
UTSW |
3 |
144,730,818 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8096:Clca3a1
|
UTSW |
3 |
144,749,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8305:Clca3a1
|
UTSW |
3 |
144,759,166 (GRCm38) |
splice site |
probably benign |
|
|
R8416:Clca3a1
|
UTSW |
3 |
144,755,153 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8446:Clca3a1
|
UTSW |
3 |
144,748,487 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8496:Clca3a1
|
UTSW |
3 |
144,747,421 (GRCm38) |
makesense |
probably null |
|
|
R9014:Clca3a1
|
UTSW |
3 |
144,736,970 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9128:Clca3a1
|
UTSW |
3 |
144,758,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9601:Clca3a1
|
UTSW |
3 |
144,747,549 (GRCm38) |
missense |
probably benign |
0.27 |
|
Z1088:Clca3a1
|
UTSW |
3 |
144,746,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACATGCATCCTGAAGAGG -3'
(R):5'- ATAGCAGTTGCCACAGAGAG -3'
Sequencing Primer
(F):5'- CCTGAAGAGGATTTGTCTCCTGAC -3'
(R):5'- ACGGGCTCTAGGTCCAATAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation