Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00425:Clca3b'

13370

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 #

IGL00425

Quality Score

Status

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144836581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 487 (S487P)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: S487P

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: S487P

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	C	T	14: 66,074,049		probably null	Het
Adgrb2	A	T	4: 130,019,072	H1373L	probably benign	Het
Adgrf4	A	G	17: 42,666,656	S599P	probably damaging	Het
Atp9b	G	A	18: 80,917,888		probably benign	Het
Baiap2	A	G	11: 119,982,010	T125A	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Cacna2d2	T	C	9: 107,527,351	S1114P	probably damaging	Het
Ccdc159	T	C	9: 21,929,469	S111P	possibly damaging	Het
Cd177	T	A	7: 24,759,751	T78S	possibly damaging	Het
Cdk5rap2	A	G	4: 70,403,472		probably null	Het
Cdkl3	C	A	11: 52,029,856	T462K	probably benign	Het
Chid1	A	C	7: 141,522,696	L208R	probably damaging	Het
Col6a3	A	T	1: 90,782,026	L1816Q	unknown	Het
Dido1	A	G	2: 180,683,989	S469P	probably benign	Het
Dsg2	A	G	18: 20,601,769	N935D	probably benign	Het
Fam126b	A	T	1: 58,540,253		probably benign	Het
Fbxw2	A	G	2: 34,812,949	I184T	probably benign	Het
Gbp9	T	C	5: 105,105,754	I32V	possibly damaging	Het
Itgb8	G	A	12: 119,189,826	T318I	probably damaging	Het
Kcnb2	A	G	1: 15,711,012	S703G	probably benign	Het
Kif26b	A	T	1: 178,916,301	S1321C	probably damaging	Het
Klb	A	G	5: 65,372,374	N415S	possibly damaging	Het
Megf10	C	A	18: 57,240,628	A166D	probably damaging	Het
Mrm3	T	G	11: 76,244,493	S177A	probably damaging	Het
Nav3	A	G	10: 109,703,507	F2011S	probably benign	Het
Nipal1	C	T	5: 72,658,724	S30L	probably benign	Het
Ogdhl	T	C	14: 32,346,490	Y895H	probably damaging	Het
Pif1	A	G	9: 65,593,277	N495D	probably damaging	Het
Prrc2c	A	T	1: 162,720,613		probably null	Het
Pygl	T	C	12: 70,191,092	D724G	probably damaging	Het
Runx1t1	A	G	4: 13,835,663	D40G	probably benign	Het
Serhl	A	T	15: 83,105,637	D192V	possibly damaging	Het
Slc12a5	C	T	2: 164,983,281	A461V	probably damaging	Het
Tomm34	A	T	2: 164,058,662		probably benign	Het
Zfp54	A	G	17: 21,430,297	N45D	probably damaging	Het

Other mutations in Clca3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Clca3b	APN	3	144836632	missense	probably damaging	0.96
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
IGL01376:Clca3b	APN	3	144826051	missense	possibly damaging	0.60
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

2012-12-06