Mutagenetix > Incidental Mutation

Incidental Mutation 'R4382:Clca3a1'

325359

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

041679-MU

Accession Numbers

Essential gene?

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

Stock #

R4382 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 144760722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

probably benign
Transcript: ENSMUST00000029932
AA Change: M1L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: M1L

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 benign
Transcript: ENSMUST00000059091
AA Change: M1L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: M1L

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	T	C	2: 91,208,109	S309P	possibly damaging	Het
Adam23	T	C	1: 63,566,628	Y624H	probably damaging	Het
B4galnt4	T	C	7: 141,070,536	V772A	probably damaging	Het
BC067074	T	C	13: 113,322,754	I1273T	probably benign	Het
Boc	A	T	16: 44,491,182	L726H	probably damaging	Het
Calr3	T	A	8: 72,428,164	D120V	probably damaging	Het
Ccdc92b	G	A	11: 74,630,016	S48N	probably damaging	Het
Ceacam12	C	T	7: 18,066,034		probably benign	Het
Cnot1	T	C	8: 95,769,779	T300A	probably damaging	Het
Col12a1	A	T	9: 79,630,741	Y2514*	probably null	Het
Col6a6	G	A	9: 105,783,690	R407W	probably damaging	Het
Csnk1g1	T	C	9: 66,019,908	V119A	probably damaging	Het
Ddx60	G	A	8: 61,948,978		probably null	Het
Dnajb12	A	T	10: 59,897,499	K372N	probably benign	Het
Fhl5	A	C	4: 25,200,118	C239G	probably benign	Het
Gad2	G	A	2: 22,685,410	V509I	probably benign	Het
Glrb	T	A	3: 80,879,639	R72S	probably damaging	Het
Gm13124	T	A	4: 144,555,026	T399S	possibly damaging	Het
Gm6811	T	C	17: 21,094,603		noncoding transcript	Het
Hecw1	C	T	13: 14,316,164	D748N	probably damaging	Het
Hk2	A	T	6: 82,735,341	L542Q	probably null	Het
Iglc1	A	T	16: 19,061,758	C104*	probably null	Het
Kel	T	A	6: 41,698,400	T306S	probably benign	Het
Lpo	T	C	11: 87,822,201	D25G	probably benign	Het
Mboat7	T	A	7: 3,688,546	Y109F	possibly damaging	Het
Myh15	T	G	16: 49,142,943	N1082K	probably benign	Het
Nagk	A	G	6: 83,798,011	E90G	probably benign	Het
Nagpa	A	T	16: 5,203,955	F10I	possibly damaging	Het
Olfr460	T	A	6: 40,572,064	L226H	probably damaging	Het
Otog	T	A	7: 46,289,698	C2051S	probably damaging	Het
Ptpn6	A	G	6: 124,727,398	V315A	possibly damaging	Het
Rbp3	G	C	14: 33,955,296	E400D	probably benign	Het
Rnf41	T	C	10: 128,436,523	S140P	probably benign	Het
Ros1	C	T	10: 52,120,959	V1206I	possibly damaging	Het
Scgb2b12	T	A	7: 32,325,445	E112D	probably benign	Het
Serpinb3b	T	A	1: 107,155,543	M210L	probably damaging	Het
Sipa1l1	A	G	12: 82,446,822	R1672G	possibly damaging	Het
Smc5	A	G	19: 23,268,846	S70P	probably benign	Het
Spen	C	T	4: 141,473,139	G2703S	possibly damaging	Het
Stard9	C	G	2: 120,634,222	A56G	probably damaging	Het
Wtap	A	G	17: 12,975,420	S87P	probably damaging	Het
Zzef1	T	G	11: 72,875,112	S1488R	probably benign	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
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
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

Posted On

2015-07-06