Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01376:Clca3b'

78727

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL01376

Quality Score

Status

Chromosome

Chromosomal Location

144528384-144555063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144531812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 664 (N664S)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159989]

AlphaFold

E9PUL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159989
AA Change: N664S

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: N664S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	481	6.22e-19	SMART
FN3	762	861	4.93e0	SMART
low complexity region	880	1025	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	T	2: 35,245,640 (GRCm39)	I61K	probably benign	Het
Acot12	A	G	13: 91,932,790 (GRCm39)	Y521C	probably damaging	Het
Anxa7	T	C	14: 20,510,524 (GRCm39)	N313D	probably benign	Het
Cdk14	T	C	5: 5,060,839 (GRCm39)	I327M	probably damaging	Het
Cpb1	A	C	3: 20,324,488 (GRCm39)	L62R	probably benign	Het
Cracdl	A	G	1: 37,667,425 (GRCm39)	L207P	probably damaging	Het
Eef2	G	A	10: 81,013,883 (GRCm39)		probably benign	Het
Enox1	T	C	14: 77,489,283 (GRCm39)		probably benign	Het
Esco1	A	T	18: 10,594,892 (GRCm39)	C131*	probably null	Het
Etv1	A	T	12: 38,907,039 (GRCm39)	D347V	probably damaging	Het
Fat1	A	G	8: 45,479,878 (GRCm39)	I2975V	probably benign	Het
Ghsr	A	G	3: 27,425,977 (GRCm39)	E11G	probably benign	Het
Gins4	T	C	8: 23,717,343 (GRCm39)	D166G	probably benign	Het
Iglv2	G	T	16: 19,079,315 (GRCm39)	H62N	possibly damaging	Het
Irf2bp1	T	C	7: 18,739,952 (GRCm39)	S531P	possibly damaging	Het
Lrig3	T	A	10: 125,830,335 (GRCm39)	F144L	probably benign	Het
Magi1	C	T	6: 94,260,074 (GRCm39)	R77Q	possibly damaging	Het
Mlkl	A	G	8: 112,046,379 (GRCm39)	L298P	probably damaging	Het
Ndc1	T	C	4: 107,232,394 (GRCm39)	L193P	probably damaging	Het
Npas3	A	T	12: 54,091,369 (GRCm39)	T308S	probably benign	Het
Nt5dc3	A	T	10: 86,670,028 (GRCm39)	Q541L	probably benign	Het
Or10ag53	T	C	2: 87,083,217 (GRCm39)	V312A	possibly damaging	Het
Or8k37	A	C	2: 86,469,953 (GRCm39)	V33G	probably benign	Het
Parp10	G	T	15: 76,125,877 (GRCm39)	T437K	probably benign	Het
Phf3	A	G	1: 30,869,566 (GRCm39)	V494A	possibly damaging	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Sars2	T	A	7: 28,449,308 (GRCm39)	Y307N	probably damaging	Het
Serping1	A	T	2: 84,600,529 (GRCm39)	V271E	probably damaging	Het
Sgpl1	G	A	10: 60,949,849 (GRCm39)	P117S	probably damaging	Het
Slc38a1	A	C	15: 96,483,437 (GRCm39)	L297R	probably damaging	Het
Strbp	A	G	2: 37,535,663 (GRCm39)	M15T	probably damaging	Het
Tdp2	A	G	13: 25,020,932 (GRCm39)		probably null	Het
Tex10	T	C	4: 48,456,740 (GRCm39)	Y657C	possibly damaging	Het
Xrcc4	A	T	13: 90,210,169 (GRCm39)	S92T	probably benign	Het

Other mutations in Clca3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Clca3b	APN	3	144,542,393 (GRCm39)	missense	probably damaging	0.96
IGL00425:Clca3b	APN	3	144,542,342 (GRCm39)	missense	probably benign	0.14
IGL00725:Clca3b	APN	3	144,544,923 (GRCm39)	missense	probably benign	0.01
IGL00898:Clca3b	APN	3	144,550,389 (GRCm39)	splice site	probably benign
IGL00953:Clca3b	APN	3	144,552,972 (GRCm39)	nonsense	probably null
IGL01089:Clca3b	APN	3	144,529,283 (GRCm39)	missense	probably benign
IGL01996:Clca3b	APN	3	144,554,924 (GRCm39)	missense	probably benign	0.04
IGL02022:Clca3b	APN	3	144,547,171 (GRCm39)	critical splice donor site	probably null
IGL02200:Clca3b	APN	3	144,547,190 (GRCm39)	missense	probably damaging	1.00
IGL02314:Clca3b	APN	3	144,533,903 (GRCm39)	splice site	probably benign
IGL02331:Clca3b	APN	3	144,547,167 (GRCm39)	splice site	probably benign
IGL02429:Clca3b	APN	3	144,533,896 (GRCm39)	missense	probably damaging	1.00
IGL02868:Clca3b	APN	3	144,533,325 (GRCm39)	missense	probably damaging	1.00
IGL03095:Clca3b	APN	3	144,552,671 (GRCm39)	nonsense	probably null
IGL03331:Clca3b	APN	3	144,533,724 (GRCm39)	missense	probably benign
R0242:Clca3b	UTSW	3	144,547,226 (GRCm39)	missense	probably benign	0.00
R0242:Clca3b	UTSW	3	144,547,226 (GRCm39)	missense	probably benign	0.00
R0506:Clca3b	UTSW	3	144,528,627 (GRCm39)	unclassified	probably benign
R0524:Clca3b	UTSW	3	144,531,082 (GRCm39)	missense	probably benign
R0637:Clca3b	UTSW	3	144,533,701 (GRCm39)	missense	probably benign	0.03
R1577:Clca3b	UTSW	3	144,529,280 (GRCm39)	missense	probably damaging	1.00
R1641:Clca3b	UTSW	3	144,529,274 (GRCm39)	missense	possibly damaging	0.53
R1680:Clca3b	UTSW	3	144,543,585 (GRCm39)	missense	probably damaging	1.00
R2240:Clca3b	UTSW	3	144,531,696 (GRCm39)	missense	probably benign	0.22
R2248:Clca3b	UTSW	3	144,530,980 (GRCm39)	missense	probably benign	0.01
R2259:Clca3b	UTSW	3	144,552,142 (GRCm39)	missense	possibly damaging	0.80
R2920:Clca3b	UTSW	3	144,552,692 (GRCm39)	missense	probably benign	0.01
R2920:Clca3b	UTSW	3	144,543,614 (GRCm39)	missense	probably benign	0.31
R4355:Clca3b	UTSW	3	144,531,219 (GRCm39)	splice site	probably null
R4691:Clca3b	UTSW	3	144,544,853 (GRCm39)	missense	probably benign	0.02
R4828:Clca3b	UTSW	3	144,550,273 (GRCm39)	missense	probably benign	0.02
R4845:Clca3b	UTSW	3	144,531,031 (GRCm39)	missense	probably benign
R5182:Clca3b	UTSW	3	144,533,776 (GRCm39)	missense	probably damaging	0.99
R5396:Clca3b	UTSW	3	144,552,932 (GRCm39)	missense	probably damaging	0.99
R5429:Clca3b	UTSW	3	144,552,220 (GRCm39)	missense	probably damaging	1.00
R5572:Clca3b	UTSW	3	144,533,070 (GRCm39)	missense	probably damaging	1.00
R5657:Clca3b	UTSW	3	144,533,144 (GRCm39)	missense	probably benign	0.25
R5845:Clca3b	UTSW	3	144,531,077 (GRCm39)	missense	possibly damaging	0.46
R6505:Clca3b	UTSW	3	144,531,020 (GRCm39)	missense	probably benign	0.18
R6677:Clca3b	UTSW	3	144,529,145 (GRCm39)	missense	probably benign	0.13
R6707:Clca3b	UTSW	3	144,550,288 (GRCm39)	missense	probably benign	0.00
R7001:Clca3b	UTSW	3	144,533,733 (GRCm39)	missense	possibly damaging	0.48
R7285:Clca3b	UTSW	3	144,543,519 (GRCm39)	missense	probably benign	0.00
R7323:Clca3b	UTSW	3	144,531,681 (GRCm39)	missense	possibly damaging	0.60
R7324:Clca3b	UTSW	3	144,547,181 (GRCm39)	missense	possibly damaging	0.81
R7334:Clca3b	UTSW	3	144,542,417 (GRCm39)	nonsense	probably null
R7403:Clca3b	UTSW	3	144,529,259 (GRCm39)	missense	probably benign	0.00
R7798:Clca3b	UTSW	3	144,533,891 (GRCm39)	missense	probably damaging	1.00
R8008:Clca3b	UTSW	3	144,550,370 (GRCm39)	missense	probably benign	0.44
R8132:Clca3b	UTSW	3	144,552,935 (GRCm39)	missense	probably benign	0.13
R8181:Clca3b	UTSW	3	144,544,898 (GRCm39)	missense	probably benign	0.00
R8305:Clca3b	UTSW	3	144,531,698 (GRCm39)	missense	probably damaging	1.00
R8546:Clca3b	UTSW	3	144,533,158 (GRCm39)	missense	probably damaging	0.99
R8716:Clca3b	UTSW	3	144,550,355 (GRCm39)	missense	probably benign	0.14
R8804:Clca3b	UTSW	3	144,544,898 (GRCm39)	missense	probably benign	0.00
R8966:Clca3b	UTSW	3	144,544,872 (GRCm39)	missense	probably benign	0.27
R9003:Clca3b	UTSW	3	144,533,072 (GRCm39)	nonsense	probably null
R9455:Clca3b	UTSW	3	144,529,023 (GRCm39)	missense	unknown
R9470:Clca3b	UTSW	3	144,543,456 (GRCm39)	missense	probably damaging	1.00
R9658:Clca3b	UTSW	3	144,543,575 (GRCm39)	missense	probably damaging	0.98
R9760:Clca3b	UTSW	3	144,552,610 (GRCm39)	missense	probably benign	0.01

Posted On

2013-11-05