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: 0.062) question?

Stock #

IGL01376

Quality Score

Status

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144826051 bp (GRCm38)

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
2010300C02Rik	A	G	1: 37,628,344	L207P	probably damaging	Het
4930568D16Rik	A	T	2: 35,355,628	I61K	probably benign	Het
Acot12	A	G	13: 91,784,671	Y521C	probably damaging	Het
Anxa7	T	C	14: 20,460,456	N313D	probably benign	Het
Cdk14	T	C	5: 5,010,839	I327M	probably damaging	Het
Cpb1	A	C	3: 20,270,324	L62R	probably benign	Het
Eef2	G	A	10: 81,178,049		probably benign	Het
Enox1	T	C	14: 77,251,843		probably benign	Het
Esco1	A	T	18: 10,594,892	C131*	probably null	Het
Etv1	A	T	12: 38,857,040	D347V	probably damaging	Het
Fat1	A	G	8: 45,026,841	I2975V	probably benign	Het
Ghsr	A	G	3: 27,371,828	E11G	probably benign	Het
Gins4	T	C	8: 23,227,327	D166G	probably benign	Het
Iglv2	G	T	16: 19,260,565	H62N	possibly damaging	Het
Irf2bp1	T	C	7: 19,006,027	S531P	possibly damaging	Het
Lrig3	T	A	10: 125,994,466	F144L	probably benign	Het
Magi1	C	T	6: 94,283,093	R77Q	possibly damaging	Het
Mlkl	A	G	8: 111,319,747	L298P	probably damaging	Het
Ndc1	T	C	4: 107,375,197	L193P	probably damaging	Het
Npas3	A	T	12: 54,044,586	T308S	probably benign	Het
Nt5dc3	A	T	10: 86,834,164	Q541L	probably benign	Het
Olfr1084	A	C	2: 86,639,609	V33G	probably benign	Het
Olfr1115	T	C	2: 87,252,873	V312A	possibly damaging	Het
Parp10	G	T	15: 76,241,677	T437K	probably benign	Het
Phf3	A	G	1: 30,830,485	V494A	possibly damaging	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Sars2	T	A	7: 28,749,883	Y307N	probably damaging	Het
Serping1	A	T	2: 84,770,185	V271E	probably damaging	Het
Sgpl1	G	A	10: 61,114,070	P117S	probably damaging	Het
Slc38a1	A	C	15: 96,585,556	L297R	probably damaging	Het
Strbp	A	G	2: 37,645,651	M15T	probably damaging	Het
Tdp2	A	G	13: 24,836,949		probably null	Het
Tex10	T	C	4: 48,456,740	Y657C	possibly damaging	Het
Xrcc4	A	T	13: 90,062,050	S92T	probably benign	Het

Other mutations in Clca3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Clca3b	APN	3	144836632	missense	probably damaging	0.96
IGL00425:Clca3b	APN	3	144836581	missense	probably benign	0.14
IGL00725:Clca3b	APN	3	144839162	missense	probably benign	0.01
IGL00898:Clca3b	APN	3	144844628	splice site	probably benign
IGL00953:Clca3b	APN	3	144847211	nonsense	probably null
IGL01089:Clca3b	APN	3	144823522	missense	probably benign
IGL01996:Clca3b	APN	3	144849163	missense	probably benign	0.04
IGL02022:Clca3b	APN	3	144841410	critical splice donor site	probably null
IGL02200:Clca3b	APN	3	144841429	missense	probably damaging	1.00
IGL02314:Clca3b	APN	3	144828142	splice site	probably benign
IGL02331:Clca3b	APN	3	144841406	splice site	probably benign
IGL02429:Clca3b	APN	3	144828135	missense	probably damaging	1.00
IGL02868:Clca3b	APN	3	144827564	missense	probably damaging	1.00
IGL03095:Clca3b	APN	3	144846910	nonsense	probably null
IGL03331:Clca3b	APN	3	144827963	missense	probably benign
R0242:Clca3b	UTSW	3	144841465	missense	probably benign	0.00
R0242:Clca3b	UTSW	3	144841465	missense	probably benign	0.00
R0506:Clca3b	UTSW	3	144822866	unclassified	probably benign
R0524:Clca3b	UTSW	3	144825321	missense	probably benign
R0637:Clca3b	UTSW	3	144827940	missense	probably benign	0.03
R1577:Clca3b	UTSW	3	144823519	missense	probably damaging	1.00
R1641:Clca3b	UTSW	3	144823513	missense	possibly damaging	0.53
R1680:Clca3b	UTSW	3	144837824	missense	probably damaging	1.00
R2240:Clca3b	UTSW	3	144825935	missense	probably benign	0.22
R2248:Clca3b	UTSW	3	144825219	missense	probably benign	0.01
R2259:Clca3b	UTSW	3	144846381	missense	possibly damaging	0.80
R2920:Clca3b	UTSW	3	144837853	missense	probably benign	0.31
R2920:Clca3b	UTSW	3	144846931	missense	probably benign	0.01
R4355:Clca3b	UTSW	3	144825458	splice site	probably null
R4691:Clca3b	UTSW	3	144839092	missense	probably benign	0.02
R4828:Clca3b	UTSW	3	144844512	missense	probably benign	0.02
R4845:Clca3b	UTSW	3	144825270	missense	probably benign
R5182:Clca3b	UTSW	3	144828015	missense	probably damaging	0.99
R5396:Clca3b	UTSW	3	144847171	missense	probably damaging	0.99
R5429:Clca3b	UTSW	3	144846459	missense	probably damaging	1.00
R5572:Clca3b	UTSW	3	144827309	missense	probably damaging	1.00
R5657:Clca3b	UTSW	3	144827383	missense	probably benign	0.25
R5845:Clca3b	UTSW	3	144825316	missense	possibly damaging	0.46
R6505:Clca3b	UTSW	3	144825259	missense	probably benign	0.18
R6677:Clca3b	UTSW	3	144823384	missense	probably benign	0.13
R6707:Clca3b	UTSW	3	144844527	missense	probably benign	0.00
R7001:Clca3b	UTSW	3	144827972	missense	possibly damaging	0.48
R7285:Clca3b	UTSW	3	144837758	missense	probably benign	0.00
R7323:Clca3b	UTSW	3	144825920	missense	possibly damaging	0.60
R7324:Clca3b	UTSW	3	144841420	missense	possibly damaging	0.81
R7334:Clca3b	UTSW	3	144836656	nonsense	probably null
R7403:Clca3b	UTSW	3	144823498	missense	probably benign	0.00
R7798:Clca3b	UTSW	3	144828130	missense	probably damaging	1.00
R8008:Clca3b	UTSW	3	144844609	missense	probably benign	0.44
R8132:Clca3b	UTSW	3	144847174	missense	probably benign	0.13
R8181:Clca3b	UTSW	3	144839137	missense	probably benign	0.00
R8305:Clca3b	UTSW	3	144825937	missense	probably damaging	1.00
R8546:Clca3b	UTSW	3	144827397	missense	probably damaging	0.99
R8716:Clca3b	UTSW	3	144844594	missense	probably benign	0.14
R8804:Clca3b	UTSW	3	144839137	missense	probably benign	0.00
R8966:Clca3b	UTSW	3	144839111	missense	probably benign	0.27
R9003:Clca3b	UTSW	3	144827311	nonsense	probably null
R9455:Clca3b	UTSW	3	144823262	missense	unknown
R9470:Clca3b	UTSW	3	144837695	missense	probably damaging	1.00
R9658:Clca3b	UTSW	3	144837814	missense	probably damaging	0.98
R9760:Clca3b	UTSW	3	144846849	missense	probably benign	0.01

Posted On

2013-11-05