Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00953:Clca3b'

27133

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 #

IGL00953

Quality Score

Status

Chromosome

Chromosomal Location

144528384-144555063 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 144552972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 84 (W84*)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably null
Transcript: ENSMUST00000159989
AA Change: W84*

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: W84*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161990

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
Aatk	T	C	11: 119,902,047 (GRCm39)	E726G	probably benign	Het
Cdyl2	T	A	8: 117,321,928 (GRCm39)		probably benign	Het
Cep41	T	C	6: 30,660,966 (GRCm39)	T109A	probably benign	Het
Cyp27b1	A	G	10: 126,885,551 (GRCm39)	D130G	probably benign	Het
Cyp2f2	T	C	7: 26,829,242 (GRCm39)	V249A	possibly damaging	Het
Cyth3	G	A	5: 143,692,920 (GRCm39)		probably null	Het
Dnah8	G	T	17: 30,925,431 (GRCm39)	E1289*	probably null	Het
Fam171a1	A	T	2: 3,179,327 (GRCm39)	D51V	possibly damaging	Het
Farp2	A	G	1: 93,488,896 (GRCm39)	R107G	possibly damaging	Het
Gemin6	T	C	17: 80,535,294 (GRCm39)	F85L	possibly damaging	Het
Hivep3	A	C	4: 119,955,571 (GRCm39)	T1296P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Htt	T	A	5: 34,976,021 (GRCm39)	S670T	probably benign	Het
Klhl24	A	T	16: 19,941,717 (GRCm39)	N555I	possibly damaging	Het
Limd1	T	A	9: 123,308,948 (GRCm39)	S216T	probably benign	Het
Lmf2	A	T	15: 89,238,102 (GRCm39)	I234N	probably damaging	Het
Mrpl4	C	A	9: 20,919,863 (GRCm39)	D271E	probably benign	Het
Mydgf	C	T	17: 56,486,407 (GRCm39)	G75R	probably damaging	Het
Nat1	A	G	8: 67,943,630 (GRCm39)	D5G	possibly damaging	Het
Or2t46	T	C	11: 58,472,636 (GRCm39)	V322A	probably benign	Het
Or5h22	A	T	16: 58,895,052 (GRCm39)	Y130*	probably null	Het
Or5k15	A	C	16: 58,710,048 (GRCm39)	H178Q	probably damaging	Het
Pla2g4c	T	A	7: 13,077,951 (GRCm39)	M363K	probably benign	Het
Prex1	A	G	2: 166,480,329 (GRCm39)	F137S	probably damaging	Het
Rbm12b1	A	G	4: 12,146,038 (GRCm39)	D670G	probably damaging	Het
Rrp12	C	A	19: 41,860,231 (GRCm39)	M997I	possibly damaging	Het
Scn3a	A	G	2: 65,327,736 (GRCm39)	V918A	probably benign	Het
Slc35g2	A	G	9: 100,434,516 (GRCm39)	V385A	probably damaging	Het
Slit1	A	T	19: 41,590,739 (GRCm39)	I1311N	probably damaging	Het
Ube2j2	C	T	4: 156,030,834 (GRCm39)		probably benign	Het
Ucp2	A	G	7: 100,147,629 (GRCm39)	T203A	probably benign	Het
Upk1b	C	T	16: 38,600,347 (GRCm39)	G211D	possibly damaging	Het
Vmn1r220	A	T	13: 23,367,935 (GRCm39)	F254I	probably benign	Het
Zcchc4	T	C	5: 52,965,638 (GRCm39)	F314S	probably damaging	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
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
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

2013-04-17