Mutagenetix > Incidental Mutation

Incidental Mutation 'R5976:Clca3a1'

471746

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

044158-MU

Accession Numbers

Essential gene?

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

Stock #

R5976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144746875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 616 (Y616N)

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: Y616N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: Y616N

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,284,129	A1697T	probably benign	Het
Ankar	T	C	1: 72,643,291	T1154A	probably benign	Het
Ankrd26	A	T	6: 118,517,894		probably null	Het
Arih2	A	T	9: 108,607,973	*54R	probably null	Het
AW146154	T	G	7: 41,480,297	K465T	probably damaging	Het
Bend3	A	G	10: 43,510,544	Y311C	probably benign	Het
Ccdc110	A	T	8: 45,943,499	Y809F	possibly damaging	Het
Ccnh	C	T	13: 85,190,863	P76L	probably damaging	Het
Chaf1a	T	A	17: 56,064,115	C667S	probably damaging	Het
Cldn4	A	G	5: 134,946,556	C64R	probably damaging	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 134,074,526		probably benign	Het
Dclk2	C	A	3: 86,787,225	R752L	possibly damaging	Het
Dzank1	C	A	2: 144,501,489	G318W	probably damaging	Het
Edem1	T	A	6: 108,842,962	I236K	probably damaging	Het
Eif4e1b	T	C	13: 54,784,822	F75L	probably damaging	Het
Elmo3	A	G	8: 105,307,647	Y266C	probably damaging	Het
Enpep	A	G	3: 129,299,124	S509P	probably damaging	Het
Exoc8	A	G	8: 124,896,653	M325T	probably benign	Het
Fah	A	G	7: 84,594,741	M270T	probably benign	Het
Gabbr1	T	C	17: 37,067,862	L532P	probably damaging	Het
Gm10770	T	A	2: 150,179,400	K66*	probably null	Het
Gprc5c	A	T	11: 114,864,487	Q330L	possibly damaging	Het
Grin3a	T	A	4: 49,792,602	H377L	probably damaging	Het
Hipk3	T	C	2: 104,471,184	E221G	probably damaging	Het
Hsd17b6	T	A	10: 127,991,439	M255L	probably benign	Het
Ighv1-7	T	A	12: 114,538,759	E29D	probably benign	Het
Ing3	T	A	6: 21,971,174	S326T	probably benign	Het
Ipo7	T	C	7: 110,048,807	L632P	probably damaging	Het
Kdm6b	A	G	11: 69,403,788		probably null	Het
Kif21a	T	G	15: 90,935,812	D1583A	probably damaging	Het
Lama2	C	T	10: 27,190,676	V1070I	probably benign	Het
Lrp1	A	T	10: 127,583,901	S946R	probably damaging	Het
Lrrc37a	A	G	11: 103,499,071	S1843P	possibly damaging	Het
Ltbp1	T	C	17: 75,290,083	Y517H	probably damaging	Het
Map2k4	T	A	11: 65,709,952	N51I	probably benign	Het
Mfsd2b	G	T	12: 4,866,522	A216D	probably damaging	Het
Nbea	T	C	3: 55,853,847	T2025A	probably benign	Het
Neb	A	G	2: 52,216,916	V4162A	possibly damaging	Het
Nr3c1	A	T	18: 39,421,549	F599I	probably damaging	Het
Nsun2	T	G	13: 69,623,152		probably null	Het
Olfr479	T	A	7: 108,055,798	M272K	possibly damaging	Het
Olfr884	G	T	9: 38,047,701	V160F	possibly damaging	Het
Otoa	T	A	7: 121,127,713	W524R	probably benign	Het
Paip1	T	A	13: 119,456,997	D182E	probably damaging	Het
Pde1a	G	A	2: 79,868,242	Q415*	probably null	Het
Pfkfb2	T	A	1: 130,708,079	K72*	probably null	Het
Pigg	A	G	5: 108,332,191	E444G	probably null	Het
Plec	T	C	15: 76,189,037	Y669C	probably damaging	Het
Ptp4a3	T	C	15: 73,756,036	V94A	possibly damaging	Het
Ptprg	A	G	14: 12,211,625	E969G	probably damaging	Het
R3hcc1l	T	A	19: 42,563,350	V262E	probably benign	Het
Ranbp3l	T	G	15: 9,002,093	F65C	possibly damaging	Het
Rbm19	T	A	5: 120,140,307	S718R	probably benign	Het
Recql4	C	A	15: 76,709,424	R162L	probably benign	Het
Rest	T	C	5: 77,268,272	L111P	probably benign	Het
Rgma	T	C	7: 73,409,468	S13P	probably damaging	Het
Rogdi	T	A	16: 5,013,311	I31F	probably benign	Het
Serpinb9e	T	A	13: 33,255,129	D179E	probably benign	Het
Slc1a5	T	C	7: 16,795,882	C409R	probably damaging	Het
Slc25a38	A	G	9: 120,116,547	T38A	probably damaging	Het
Spag17	C	T	3: 100,095,791	Q1897*	probably null	Het
St7	C	A	6: 17,694,222	A4E	possibly damaging	Het
Tbcel	T	A	9: 42,439,203	I263F	possibly damaging	Het
Tmtc3	A	G	10: 100,476,672	V103A	probably benign	Het
Tnc	G	A	4: 64,018,166	P178S	probably benign	Het
Vwf	A	G	6: 125,603,463	D558G		Het
Zfp541	A	G	7: 16,076,419	K127R	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
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
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'- TGTTGACTACCAAGTTATAGGATCC -3'
(R):5'- AGTTCCATATTCAGCACCCC -3'

Sequencing Primer
(F):5'- CCAAGGTGACTTGATGTC -3'
(R):5'- TTCCAAGTAGCAAGAAATCCTTAGC -3'

Posted On

2017-03-31