Incidental Mutation 'R7889:Clca3a2'
| ID |
609202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3a2
|
| Ensembl Gene |
ENSMUSG00000028262 |
| Gene Name |
chloride channel accessory 3A2 |
| Synonyms |
Clca2 |
| MMRRC Submission |
045941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7889 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
144796559-144819494 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 144810813 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 341
(E341*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029929]
|
| AlphaFold |
Q9EQR4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029929
AA Change: E341*
|
| SMART Domains |
Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: E341*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
306 |
478 |
1.5e-21 |
SMART |
|
FN3
|
758 |
857 |
5.49e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197013
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
C |
T |
4: 99,031,071 (GRCm38) |
L23F |
probably benign |
Het |
| Art2a-ps |
C |
T |
7: 101,555,211 (GRCm38) |
S40N |
not run |
Het |
| Ash1l |
A |
G |
3: 88,966,038 (GRCm38) |
T43A |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,278,064 (GRCm38) |
|
probably null |
Het |
| Azi2 |
A |
G |
9: 118,061,915 (GRCm38) |
E336G |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,646,575 (GRCm38) |
H419R |
probably damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,723,836 (GRCm38) |
S903T |
probably damaging |
Het |
| Cep72 |
A |
T |
13: 74,050,122 (GRCm38) |
S380T |
possibly damaging |
Het |
| Clcnkb |
T |
G |
4: 141,410,604 (GRCm38) |
I294L |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,455,826 (GRCm38) |
M350K |
probably damaging |
Het |
| Dhx40 |
T |
G |
11: 86,798,967 (GRCm38) |
I266L |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,448,414 (GRCm38) |
E4208* |
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,771,042 (GRCm38) |
N242S |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,457,691 (GRCm38) |
F478Y |
probably benign |
Het |
| Fastkd2 |
C |
G |
1: 63,735,460 (GRCm38) |
|
probably null |
Het |
| Fbxo40 |
T |
A |
16: 36,969,650 (GRCm38) |
D366V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 24,770,494 (GRCm38) |
K95M |
probably damaging |
Het |
| Foxo3 |
T |
A |
10: 42,275,027 (GRCm38) |
Q136L |
probably benign |
Het |
| Gadl1 |
A |
T |
9: 115,954,815 (GRCm38) |
Q236L |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 55,112,861 (GRCm38) |
D560G |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,372,166 (GRCm38) |
S124G |
probably benign |
Het |
| Gkn2 |
A |
G |
6: 87,378,286 (GRCm38) |
|
probably null |
Het |
| Glyctk |
T |
A |
9: 106,156,439 (GRCm38) |
R68W |
unknown |
Het |
| Gm10031 |
G |
A |
1: 156,525,395 (GRCm38) |
A389T |
probably benign |
Het |
| Gm14025 |
T |
C |
2: 129,036,994 (GRCm38) |
E1004G |
unknown |
Het |
| Gm5157 |
G |
A |
7: 21,184,716 (GRCm38) |
P301S |
unknown |
Het |
| Hdc |
A |
T |
2: 126,616,210 (GRCm38) |
I64N |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,792,561 (GRCm38) |
|
probably null |
Het |
| Ighv1-43 |
T |
C |
12: 114,945,963 (GRCm38) |
Y113C |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,406,853 (GRCm38) |
T273A |
probably benign |
Het |
| Itga4 |
G |
A |
2: 79,316,045 (GRCm38) |
V774I |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,116,777 (GRCm38) |
L2287P |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,707,312 (GRCm38) |
I394N |
probably damaging |
Het |
| Mta1 |
G |
A |
12: 113,131,688 (GRCm38) |
R487H |
probably benign |
Het |
| Neb |
T |
C |
2: 52,147,669 (GRCm38) |
D7049G |
probably benign |
Het |
| Nlrp4f |
G |
A |
13: 65,195,018 (GRCm38) |
S271F |
probably damaging |
Het |
| Noxo1 |
A |
G |
17: 24,699,382 (GRCm38) |
D172G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,121,507 (GRCm38) |
V347E |
probably damaging |
Het |
| Oaf |
G |
T |
9: 43,222,671 (GRCm38) |
A251E |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,792,172 (GRCm38) |
F1039I |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,421,240 (GRCm38) |
|
probably null |
Het |
| Prmt3 |
A |
G |
7: 49,787,301 (GRCm38) |
D208G |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,888,608 (GRCm38) |
T441M |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,584,774 (GRCm38) |
|
probably null |
Het |
| Shtn1 |
T |
A |
19: 59,003,896 (GRCm38) |
I417F |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 22,540,401 (GRCm38) |
S158P |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,586,673 (GRCm38) |
P802R |
possibly damaging |
Het |
| Spata5 |
A |
G |
3: 37,578,810 (GRCm38) |
D855G |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,717,563 (GRCm38) |
Y232C |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,704,461 (GRCm38) |
T3733I |
probably benign |
Het |
| Thrap3 |
A |
T |
4: 126,178,062 (GRCm38) |
F512L |
probably benign |
Het |
| Tmem150c |
A |
T |
5: 100,093,104 (GRCm38) |
I30K |
probably damaging |
Het |
| Tnnt1 |
C |
T |
7: 4,508,583 (GRCm38) |
A168T |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,918,824 (GRCm38) |
L308P |
probably damaging |
Het |
| Trp53i11 |
T |
C |
2: 93,198,899 (GRCm38) |
L81P |
probably damaging |
Het |
| Usp16 |
T |
C |
16: 87,474,584 (GRCm38) |
Y344H |
probably benign |
Het |
| Wdr60 |
T |
A |
12: 116,255,939 (GRCm38) |
K128* |
probably null |
Het |
| Xrcc5 |
G |
T |
1: 72,356,826 (GRCm38) |
V593L |
probably benign |
Het |
| Zcchc14 |
A |
T |
8: 121,604,895 (GRCm38) |
H576Q |
unknown |
Het |
| Zfp616 |
T |
A |
11: 74,085,445 (GRCm38) |
C847S |
probably damaging |
Het |
| Zfp626 |
A |
T |
7: 27,819,499 (GRCm38) |
Y635F |
probably benign |
Het |
| Zfp799 |
G |
A |
17: 32,819,499 (GRCm38) |
R598* |
probably null |
Het |
| Zfp831 |
A |
G |
2: 174,645,304 (GRCm38) |
K591E |
possibly damaging |
Het |
|
| Other mutations in Clca3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Clca3a2
|
APN |
3 |
144,813,627 (GRCm38) |
nonsense |
probably null |
|
|
IGL01663:Clca3a2
|
APN |
3 |
144,817,155 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01779:Clca3a2
|
APN |
3 |
144,819,378 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02066:Clca3a2
|
APN |
3 |
144,813,455 (GRCm38) |
missense |
probably benign |
|
|
IGL02301:Clca3a2
|
APN |
3 |
144,806,372 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02619:Clca3a2
|
APN |
3 |
144,806,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02852:Clca3a2
|
APN |
3 |
144,806,343 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02901:Clca3a2
|
APN |
3 |
144,816,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03162:Clca3a2
|
APN |
3 |
144,806,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Clca3a2
|
UTSW |
3 |
144,816,733 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0244:Clca3a2
|
UTSW |
3 |
144,813,898 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1249:Clca3a2
|
UTSW |
3 |
144,803,004 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1370:Clca3a2
|
UTSW |
3 |
144,813,863 (GRCm38) |
splice site |
probably benign |
|
|
R1586:Clca3a2
|
UTSW |
3 |
144,810,716 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1776:Clca3a2
|
UTSW |
3 |
144,813,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1797:Clca3a2
|
UTSW |
3 |
144,797,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1869:Clca3a2
|
UTSW |
3 |
144,806,403 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1871:Clca3a2
|
UTSW |
3 |
144,797,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1919:Clca3a2
|
UTSW |
3 |
144,810,696 (GRCm38) |
missense |
probably benign |
|
|
R1923:Clca3a2
|
UTSW |
3 |
144,805,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2200:Clca3a2
|
UTSW |
3 |
144,813,924 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2324:Clca3a2
|
UTSW |
3 |
144,806,280 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2937:Clca3a2
|
UTSW |
3 |
144,813,918 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3429:Clca3a2
|
UTSW |
3 |
144,806,327 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3434:Clca3a2
|
UTSW |
3 |
144,808,761 (GRCm38) |
unclassified |
probably benign |
|
|
R3551:Clca3a2
|
UTSW |
3 |
144,803,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3952:Clca3a2
|
UTSW |
3 |
144,803,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4120:Clca3a2
|
UTSW |
3 |
144,810,852 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4383:Clca3a2
|
UTSW |
3 |
144,806,320 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4518:Clca3a2
|
UTSW |
3 |
144,808,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4598:Clca3a2
|
UTSW |
3 |
144,805,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Clca3a2
|
UTSW |
3 |
144,807,351 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4802:Clca3a2
|
UTSW |
3 |
144,807,351 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4816:Clca3a2
|
UTSW |
3 |
144,810,852 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4934:Clca3a2
|
UTSW |
3 |
144,817,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4942:Clca3a2
|
UTSW |
3 |
144,806,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5123:Clca3a2
|
UTSW |
3 |
144,806,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5156:Clca3a2
|
UTSW |
3 |
144,805,838 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5275:Clca3a2
|
UTSW |
3 |
144,813,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5372:Clca3a2
|
UTSW |
3 |
144,797,525 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5656:Clca3a2
|
UTSW |
3 |
144,797,632 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6059:Clca3a2
|
UTSW |
3 |
144,810,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6155:Clca3a2
|
UTSW |
3 |
144,819,357 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6254:Clca3a2
|
UTSW |
3 |
144,802,134 (GRCm38) |
missense |
probably benign |
|
|
R6336:Clca3a2
|
UTSW |
3 |
144,806,478 (GRCm38) |
missense |
probably benign |
|
|
R6470:Clca3a2
|
UTSW |
3 |
144,804,263 (GRCm38) |
splice site |
probably null |
|
|
R6593:Clca3a2
|
UTSW |
3 |
144,808,577 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6631:Clca3a2
|
UTSW |
3 |
144,813,644 (GRCm38) |
missense |
probably benign |
|
|
R6826:Clca3a2
|
UTSW |
3 |
144,818,054 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6836:Clca3a2
|
UTSW |
3 |
144,806,383 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6896:Clca3a2
|
UTSW |
3 |
144,808,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7211:Clca3a2
|
UTSW |
3 |
144,814,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7324:Clca3a2
|
UTSW |
3 |
144,808,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7411:Clca3a2
|
UTSW |
3 |
144,802,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7486:Clca3a2
|
UTSW |
3 |
144,797,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7491:Clca3a2
|
UTSW |
3 |
144,813,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7521:Clca3a2
|
UTSW |
3 |
144,801,913 (GRCm38) |
makesense |
probably null |
|
|
R7946:Clca3a2
|
UTSW |
3 |
144,807,314 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7991:Clca3a2
|
UTSW |
3 |
144,813,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8022:Clca3a2
|
UTSW |
3 |
144,805,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8344:Clca3a2
|
UTSW |
3 |
144,805,942 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8367:Clca3a2
|
UTSW |
3 |
144,817,747 (GRCm38) |
splice site |
probably null |
|
|
R8371:Clca3a2
|
UTSW |
3 |
144,807,353 (GRCm38) |
nonsense |
probably null |
|
|
R8814:Clca3a2
|
UTSW |
3 |
144,797,764 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9031:Clca3a2
|
UTSW |
3 |
144,805,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9069:Clca3a2
|
UTSW |
3 |
144,813,686 (GRCm38) |
splice site |
probably benign |
|
|
R9201:Clca3a2
|
UTSW |
3 |
144,813,923 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9261:Clca3a2
|
UTSW |
3 |
144,819,397 (GRCm38) |
missense |
probably benign |
|
|
R9469:Clca3a2
|
UTSW |
3 |
144,802,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9515:Clca3a2
|
UTSW |
3 |
144,803,047 (GRCm38) |
nonsense |
probably null |
|
|
R9569:Clca3a2
|
UTSW |
3 |
144,807,314 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9664:Clca3a2
|
UTSW |
3 |
144,797,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTGAAATCCTGCCTG -3'
(R):5'- AGCATAGACTTTGAAGGTTGTCAG -3'
Sequencing Primer
(F):5'- CCTGGAGTCCATGGCAAATTG -3'
(R):5'- TGAAGGTTGTCAGAACTATAACAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation