Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02200:Clca3b'

284151

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: 0.059) question?

Stock #

IGL02200

Quality Score

Status

Chromosome

Chromosomal Location

144528384-144555063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144547190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 316 (S316P)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000159989
AA Change: S316P

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

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: S316P

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
Abca4	A	G	3: 121,862,663 (GRCm39)	E207G	probably benign	Het
Ahi1	T	C	10: 20,857,213 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,536,302 (GRCm39)	V97E	probably damaging	Het
Cadps2	T	C	6: 23,385,527 (GRCm39)	Y736C	probably damaging	Het
Cdon	T	C	9: 35,394,405 (GRCm39)	W884R	probably benign	Het
Cflar	A	G	1: 58,791,828 (GRCm39)	D380G	probably damaging	Het
Clca3a1	A	T	3: 144,457,690 (GRCm39)		probably benign	Het
Crispld1	T	C	1: 17,820,557 (GRCm39)		probably benign	Het
Diaph1	G	A	18: 38,023,735 (GRCm39)	P701L	unknown	Het
Dip2b	T	C	15: 100,049,083 (GRCm39)	L159P	possibly damaging	Het
Dock1	A	G	7: 134,346,000 (GRCm39)	T181A	probably benign	Het
Ear1	C	T	14: 44,056,709 (GRCm39)	R53H	probably benign	Het
Gm2663	A	G	6: 40,972,947 (GRCm39)	V220A	probably benign	Het
Gpi-ps	A	G	8: 5,689,968 (GRCm39)		noncoding transcript	Het
Grik1	A	G	16: 87,737,453 (GRCm39)	F614L	probably damaging	Het
Htr2a	T	A	14: 74,943,605 (GRCm39)	I395N	probably damaging	Het
Itsn2	A	G	12: 4,686,632 (GRCm39)	D528G	probably damaging	Het
Kdr	T	C	5: 76,110,762 (GRCm39)		probably benign	Het
M6pr	A	G	6: 122,292,027 (GRCm39)	M120V	probably benign	Het
Mettl13	G	A	1: 162,366,392 (GRCm39)		probably benign	Het
Mtfmt	A	G	9: 65,356,063 (GRCm39)		probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Ogfrl1	C	T	1: 23,409,150 (GRCm39)	V359I	probably benign	Het
Or51f1d	C	T	7: 102,701,000 (GRCm39)	T165I	probably benign	Het
Ovch2	T	C	7: 107,394,030 (GRCm39)	Y141C	probably damaging	Het
Pwwp2a	A	C	11: 43,596,955 (GRCm39)	I432L	possibly damaging	Het
Ryr3	C	T	2: 112,679,855 (GRCm39)	V1245M	probably damaging	Het
Sis	T	C	3: 72,850,937 (GRCm39)	H587R	probably damaging	Het
Snrnp40	A	G	4: 130,254,014 (GRCm39)	K6E	probably damaging	Het
Snx13	A	T	12: 35,136,884 (GRCm39)	D115V	probably damaging	Het
Sohlh2	C	A	3: 55,097,977 (GRCm39)	T143K	probably damaging	Het
Spag4	T	C	2: 155,908,517 (GRCm39)	L55S	probably benign	Het
Trgc2	T	C	13: 19,491,521 (GRCm39)		probably benign	Het
Vmn2r77	T	C	7: 86,451,187 (GRCm39)	S358P	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
IGL01376:Clca3b	APN	3	144,531,812 (GRCm39)	missense	possibly damaging	0.60
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
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

2015-04-16