Mutagenetix > Incidental Mutation

Incidental Mutation 'R4543:Clca3a1'

333616

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

041778-MU

Accession Numbers

Essential gene?

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

Stock #

R4543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144746988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 578 (Q578L)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

probably benign
Transcript: ENSMUST00000029932

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025

Domain	Start	End	E-Value	Type
Pfam:CLCA_N	1	262	5.8e-144	PFAM
VWA	306	473	1.81e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000059091
AA Change: Q578L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: Q578L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196146

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	T	A	1: 134,389,793	M101K	probably benign	Het
A1bg	A	T	15: 60,917,900	S500T	probably damaging	Het
Abhd3	T	C	18: 10,706,672	D2G	possibly damaging	Het
Ablim1	C	T	19: 57,077,442	R366H	possibly damaging	Het
Adgre1	T	A	17: 57,406,874	H186Q	probably benign	Het
Ankmy1	G	T	1: 92,884,850	A579E	probably damaging	Het
Ap2b1	C	A	11: 83,324,650	T140K	probably damaging	Het
Arhgef28	T	A	13: 98,075,000	E158D	probably benign	Het
Atp8b4	A	G	2: 126,358,066	F885L	probably damaging	Het
Barx2	A	G	9: 31,846,796	L282S	unknown	Het
Catsper2	C	T	2: 121,407,409	W163*	probably null	Het
Cep295	T	C	9: 15,335,253	T588A	possibly damaging	Het
Chil3	T	G	3: 106,160,370	K160Q	probably benign	Het
Crp	A	C	1: 172,698,737	I130L	probably benign	Het
Dtwd2	C	A	18: 49,724,108		probably null	Het
Fads3	T	C	19: 10,041,811	F27S	possibly damaging	Het
Gm3604	T	C	13: 62,370,156	D109G	probably benign	Het
Gtf2ird1	A	G	5: 134,363,900		probably null	Het
H2-K1	C	T	17: 33,999,558		probably null	Het
Hdac5	T	C	11: 102,213,944		probably benign	Het
Il6st	G	A	13: 112,481,459	V136M	probably damaging	Het
Immt	T	C	6: 71,851,778	S106P	probably damaging	Het
Kat2b	T	C	17: 53,653,140	I492T	probably benign	Het
Kcnn2	T	C	18: 45,559,648	F97S	probably benign	Het
Kdm4c	A	G	4: 74,330,760	I84V	probably benign	Het
Kif7	G	A	7: 79,707,548	P637S	probably benign	Het
Lrrcc1	T	A	3: 14,539,791	I109K	probably damaging	Het
Med12l	T	A	3: 59,091,508	C619S	probably damaging	Het
Olfr919	A	G	9: 38,697,545	S274P	possibly damaging	Het
Polq	T	C	16: 37,060,785	C1104R	probably benign	Het
Rbfox2	A	T	15: 77,306,368	M59K	probably benign	Het
Rft1	T	C	14: 30,661,333	V110A	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,922		probably benign	Het
Slc2a12	T	A	10: 22,664,786	V180D	probably damaging	Het
Sox21	CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC	CCAGCGGCGGCGGCGGCAGCGGC	14: 118,235,136		probably benign	Het
Stap2	C	T	17: 55,997,604		probably null	Het
Tenm4	A	G	7: 96,895,815	N2375S	probably benign	Het
Tmem132c	A	G	5: 127,504,977	T419A	probably benign	Het
Tmprss11a	G	A	5: 86,411,809	Q375*	probably null	Het
Trav12-3	CTCTG	CTCTGTCTG	14: 53,622,236		probably null	Het
Vmn1r88	T	A	7: 13,177,980	S88T	possibly damaging	Het
Zfp622	T	A	15: 25,991,537	D143E	possibly damaging	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
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
R7792:Clca3a1	UTSW	3	144749731	missense	possibly damaging	0.95
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'- ATTGTCCCAGAGCTCCAAGG -3'
(R):5'- AGGTTAGCAATGTAGGTCTCTACTC -3'

Sequencing Primer
(F):5'- CCATGTTCAGCTTCTATGAGGGC -3'
(R):5'- CTTAGTAGGACAGTTGTTTACCATGC -3'

Posted On

2015-08-18