Mutagenetix > Incidental Mutation

Incidental Mutation 'R7792:Clca3a1'

599924

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144749731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 434 (I434F)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029932] [ENSMUST00000059091]

AlphaFold

Q9QX15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029932
AA Change: I434F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: I434F

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: I434F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: I434F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (97/97)

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	A	18: 12,181,599	D289N	probably damaging	Het
Aars	G	T	8: 111,043,264	V332F	possibly damaging	Het
Abhd15	T	A	11: 77,518,734	S425T	probably benign	Het
Acads	A	T	5: 115,112,781	F152L	probably damaging	Het
Acpp	T	A	9: 104,326,966	H43L	probably damaging	Het
Adora2a	A	G	10: 75,333,646	S315G	probably benign	Het
Agxt2	A	T	15: 10,381,386	D242V	probably damaging	Het
Alx4	A	G	2: 93,642,711	D18G	probably damaging	Het
Ankrd11	A	G	8: 122,884,231	S2639P	probably damaging	Het
Arhgap35	A	T	7: 16,561,528	V1204D	possibly damaging	Het
Arid2	A	G	15: 96,369,375	T579A	probably benign	Het
B4galt1	C	T	4: 40,809,373	G332S	probably benign	Het
B4galt4	C	A	16: 38,757,810	Y206*	probably null	Het
Bcl2l14	A	T	6: 134,432,314	T284S	possibly damaging	Het
Bop1	C	T	15: 76,454,348	V465M	probably damaging	Het
Cacna1b	A	T	2: 24,677,965	L1037H	probably damaging	Het
Cadm2	G	A	16: 66,771,637	T254M	probably benign	Het
Ccdc180	T	C	4: 45,890,389		probably null	Het
Ccdc7a	A	T	8: 128,892,437	D875E	possibly damaging	Het
Cenpu	A	G	8: 46,562,467	D139G	possibly damaging	Het
Cep57l1	A	T	10: 41,722,940	C292*	probably null	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Chst14	A	G	2: 118,927,775	H350R	probably benign	Het
Crispld2	A	G	8: 120,031,070	T385A	probably benign	Het
Crmp1	A	C	5: 37,284,095	N507T	probably damaging	Het
Cyp4f40	T	A	17: 32,671,169	I271N	probably damaging	Het
D630003M21Rik	G	T	2: 158,210,162	Q670K	possibly damaging	Het
Ddx42	T	C	11: 106,236,996	I342T	probably damaging	Het
Dnah9	T	A	11: 65,850,013	I4116F	probably damaging	Het
Ehd2	T	C	7: 15,950,758	H372R	probably benign	Het
Gja8	C	A	3: 96,919,776	C190F	probably damaging	Het
Gm13088	A	G	4: 143,654,553	L300P	probably benign	Het
Gm8297	A	T	14: 4,984,945	D72V	possibly damaging	Het
Golgb1	A	G	16: 36,918,730	D2518G	probably benign	Het
Hsd17b12	C	A	2: 94,033,641	M285I	probably benign	Het
Hus1	T	C	11: 9,000,133	E196G	probably damaging	Het
Irf2	G	A	8: 46,807,279	R82Q	probably damaging	Het
Irx2	A	G	13: 72,631,374	D259G	possibly damaging	Het
Jph1	T	A	1: 17,004,378	Q472L	probably benign	Het
Kif2a	T	C	13: 106,987,982	Q142R	probably benign	Het
Lonp1	T	C	17: 56,622,515	Y174C	probably damaging	Het
Mapk14	T	C	17: 28,746,297	F348L	probably damaging	Het
March10	G	T	11: 105,390,228	D410E	probably benign	Het
Mff	A	T	1: 82,747,081		probably null	Het
Necab3	G	A	2: 154,546,280	R271C	probably damaging	Het
Nlrp4e	T	A	7: 23,321,757	F556L	possibly damaging	Het
Nt5c2	T	C	19: 46,889,946	K425E	probably benign	Het
Ofcc1	A	T	13: 40,142,826	W511R	probably damaging	Het
Olfr1283	T	C	2: 111,369,403	I257T	probably benign	Het
Olfr347	A	C	2: 36,734,330	E3A	probably benign	Het
Olfr551	T	A	7: 102,588,883		probably benign	Het
Olfr56	T	A	11: 49,134,669	I159N	possibly damaging	Het
P2rx2	G	C	5: 110,340,344	A448G	possibly damaging	Het
Papd5	A	T	8: 88,252,554	Q561L	probably benign	Het
Pcnx2	A	T	8: 125,892,018	N56K	possibly damaging	Het
Pdzd7	A	C	19: 45,040,218	M162R	possibly damaging	Het
Phyhd1	A	G	2: 30,266,770	M1V	probably null	Het
Pla2g16	T	C	19: 7,579,295	C154R	probably benign	Het
Plekha5	A	G	6: 140,589,224	E1126G	possibly damaging	Het
Plekhm1	A	T	11: 103,397,060	V87D	probably damaging	Het
Pole	G	A	5: 110,297,466		probably null	Het
R3hcc1	T	C	14: 69,705,508	M207V	probably benign	Het
R3hcc1l	T	A	19: 42,563,964	S467T	probably damaging	Het
Rasgrp4	G	T	7: 29,143,102	R267L	probably damaging	Het
Rbm20	T	C	19: 53,850,136	I848T	probably benign	Het
Rims2	T	C	15: 39,198,528	S56P	possibly damaging	Het
Sacs	T	A	14: 61,209,773	D3089E	probably benign	Het
Sall2	C	T	14: 52,316,064	G16R	probably damaging	Het
Scgb1b19	G	A	7: 33,288,487	C93Y	probably damaging	Het
Scn3a	T	A	2: 65,466,990	K1442*	probably null	Het
Sepsecs	A	G	5: 52,644,049	S424P	probably damaging	Het
Set	G	T	2: 30,070,311	V219F	probably benign	Het
Sh3tc1	A	T	5: 35,710,951	F390I	probably damaging	Het
Simc1	G	A	13: 54,547,330	V1269M	probably damaging	Het
Ska3	T	G	14: 57,810,055	D341A	probably damaging	Het
Skiv2l2	A	T	13: 112,872,909	D985E	probably benign	Het
Slc16a10	A	T	10: 40,037,415		probably null	Het
Srgap1	T	A	10: 121,925,967	N92I	probably damaging	Het
Sspo	T	C	6: 48,454,690	V639A	probably damaging	Het
Stk11	A	T	10: 80,125,437		probably benign	Het
Sult5a1	G	A	8: 123,145,441	H221Y	probably benign	Het
Sytl3	T	A	17: 6,736,578	M559K	probably benign	Het
Tab2	A	C	10: 7,919,133	D528E	possibly damaging	Het
Tbc1d15	A	G	10: 115,221,587	I218T	possibly damaging	Het
Tenm4	T	A	7: 96,774,014	M672K	possibly damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Thsd1	G	T	8: 22,243,098	G54W	probably damaging	Het
Tmprss15	A	T	16: 79,003,387	L618I	probably damaging	Het
Top3a	T	C	11: 60,742,964	S769G	probably benign	Het
Trp63	C	A	16: 25,868,224	P396Q	possibly damaging	Het
Ttc30a2	T	C	2: 75,976,929	N413S	probably benign	Het
Uggt1	T	C	1: 36,207,984	S311G	probably damaging	Het
Usp10	G	A	8: 119,952,001	E574K	possibly damaging	Het
Wfdc6b	T	A	2: 164,617,902	I148K	probably damaging	Het
Zcchc2	T	G	1: 106,018,252	I474R	probably damaging	Het
Zdhhc2	A	G	8: 40,447,141	K82R	probably benign	Het
Zfp273	A	G	13: 67,826,016	D421G	possibly damaging	Het
Zfp280d	T	C	9: 72,331,319	I639T	probably damaging	Het
Zfp429	A	T	13: 67,390,439	C295*	probably null	Het

Other mutations in Clca3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Clca3a1	APN	3	144755251	missense	probably damaging	0.96
IGL01331:Clca3a1	APN	3	144747512	missense	probably damaging	1.00
IGL01895:Clca3a1	APN	3	144747572	nonsense	probably null
IGL01940:Clca3a1	APN	3	144746976	missense	probably benign	0.25
IGL02162:Clca3a1	APN	3	144754803	missense	probably damaging	0.98
IGL02200:Clca3a1	APN	3	144751929	splice site	probably benign
IGL03093:Clca3a1	APN	3	144747501	missense	probably damaging	0.99
Lucha	UTSW	3	144749689	missense	probably damaging	1.00
R0256:Clca3a1	UTSW	3	144730879	missense	probably damaging	0.98
R0513:Clca3a1	UTSW	3	144760562	critical splice donor site	probably null
R0543:Clca3a1	UTSW	3	144748394	splice site	probably benign
R1522:Clca3a1	UTSW	3	144755171	missense	probably benign	0.01
R1744:Clca3a1	UTSW	3	144746835	missense	probably damaging	0.99
R1873:Clca3a1	UTSW	3	144746829	missense	probably damaging	0.99
R2238:Clca3a1	UTSW	3	144752005	missense	possibly damaging	0.94
R2278:Clca3a1	UTSW	3	144758024	missense	probably damaging	0.99
R2516:Clca3a1	UTSW	3	144737858	splice site	probably null
R3737:Clca3a1	UTSW	3	144730721	missense	probably benign	0.01
R3981:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3982:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3983:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R4038:Clca3a1	UTSW	3	144755233	missense	probably benign	0.35
R4382:Clca3a1	UTSW	3	144760722	start codon destroyed	probably benign	0.08
R4543:Clca3a1	UTSW	3	144746988	missense	probably damaging	1.00
R4766:Clca3a1	UTSW	3	144749712	missense	probably damaging	1.00
R4899:Clca3a1	UTSW	3	144737961	missense	probably damaging	1.00
R5090:Clca3a1	UTSW	3	144737872	missense	probably benign	0.01
R5091:Clca3a1	UTSW	3	144730722	missense	probably benign	0.00
R5205:Clca3a1	UTSW	3	144746784	missense	possibly damaging	0.68
R5248:Clca3a1	UTSW	3	144737136	missense	possibly damaging	0.62
R5354:Clca3a1	UTSW	3	144737005	missense	possibly damaging	0.77
R5871:Clca3a1	UTSW	3	144754881	missense	probably damaging	1.00
R5907:Clca3a1	UTSW	3	144749642	intron	probably benign
R5976:Clca3a1	UTSW	3	144746875	missense	probably damaging	1.00
R6190:Clca3a1	UTSW	3	144758060	missense	probably benign	0.40
R6193:Clca3a1	UTSW	3	144759232	missense	possibly damaging	0.65
R6263:Clca3a1	UTSW	3	144749778	missense	probably damaging	1.00
R6299:Clca3a1	UTSW	3	144758514	missense	probably damaging	0.99
R6327:Clca3a1	UTSW	3	144730797	missense	probably benign	0.02
R6497:Clca3a1	UTSW	3	144759259	missense	possibly damaging	0.81
R6542:Clca3a1	UTSW	3	144759260	missense	probably benign	0.01
R6547:Clca3a1	UTSW	3	144736947	missense	probably damaging	1.00
R6759:Clca3a1	UTSW	3	144749689	missense	probably damaging	1.00
R7032:Clca3a1	UTSW	3	144747568	missense	probably benign	0.07
R7063:Clca3a1	UTSW	3	144755206	missense	probably damaging	0.97
R7139:Clca3a1	UTSW	3	144755302	missense	possibly damaging	0.58
R7638:Clca3a1	UTSW	3	144751962	missense	probably damaging	1.00
R7663:Clca3a1	UTSW	3	144737036	missense	probably benign	0.02
R7798:Clca3a1	UTSW	3	144757962	missense	probably damaging	1.00
R7892:Clca3a1	UTSW	3	144730818	missense	probably benign	0.00
R8096:Clca3a1	UTSW	3	144749685	missense	probably damaging	1.00
R8305:Clca3a1	UTSW	3	144759166	splice site	probably benign
R8416:Clca3a1	UTSW	3	144755153	critical splice donor site	probably null
R8446:Clca3a1	UTSW	3	144748487	missense	probably damaging	0.97
R8496:Clca3a1	UTSW	3	144747421	makesense	probably null
R9014:Clca3a1	UTSW	3	144736970	missense	probably benign	0.01
R9128:Clca3a1	UTSW	3	144758034	missense	probably damaging	1.00
R9601:Clca3a1	UTSW	3	144747549	missense	probably benign	0.27
Z1088:Clca3a1	UTSW	3	144746953	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCACCGAATAATTTAAGATGGG -3'
(R):5'- AATGCTTGCCCATTTCCGTG -3'

Sequencing Primer
(F):5'- AAGGAAAGAACTGAACTTGAAGGTC -3'
(R):5'- CCGTGTATCATCAAGTCAGCTAAG -3'

Posted On

2019-11-26