Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Clca3b'

293025

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 #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144828135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 493 (L493S)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000159989
AA Change: L493S

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

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: L493S

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	A	T	1: 127,759,716	D245V	probably damaging	Het
Adamts16	G	A	13: 70,787,170		probably benign	Het
Arhgap36	A	G	X: 49,494,706	D77G	possibly damaging	Het
Asap1	A	T	15: 64,167,740	M187K	probably damaging	Het
Aspm	T	C	1: 139,479,810	V2145A	probably benign	Het
Casc4	A	G	2: 121,911,987	T306A	probably benign	Het
Cd46	T	C	1: 195,085,424	T110A	probably benign	Het
Chl1	T	A	6: 103,664,809		probably benign	Het
Col11a2	C	T	17: 34,042,292	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,871,982		probably benign	Het
Frmd4b	T	C	6: 97,325,429		probably benign	Het
Glyr1	A	G	16: 5,019,376	M397T	probably benign	Het
Gtf2a1l	G	T	17: 88,668,713	M1I	probably null	Het
Hdac4	A	G	1: 92,012,695	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720	C422S	probably damaging	Het
Kng2	T	A	16: 23,012,079	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,778,167	A136S	probably damaging	Het
Ltf	T	C	9: 111,026,125	I402T	possibly damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 132,028,499	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,089,334	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,827,788	R114W	probably damaging	Het
Myh4	A	T	11: 67,258,982	K1818*	probably null	Het
Myo1h	C	T	5: 114,359,738		probably benign	Het
Ncapd3	T	A	9: 27,089,302	S1402T	probably benign	Het
Nutm2	A	G	13: 50,469,480	N71S	probably benign	Het
Oas1c	C	A	5: 120,802,068	M344I	probably benign	Het
Olfr978	T	A	9: 39,993,842	F11I	probably benign	Het
Phldb1	A	G	9: 44,700,950	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,882,591	E494G	probably benign	Het
Pole	T	C	5: 110,299,800	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,384,615	S203P	probably benign	Het
Pth2r	G	T	1: 65,346,839	M240I	probably benign	Het
Ptprr	T	A	10: 116,273,767	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,210,488	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,413,895	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,651,131	Y8H	probably benign	Het
Rph3a	A	T	5: 120,980,124		probably null	Het
Runx1t1	A	T	4: 13,865,294		probably benign	Het
Slc37a1	T	A	17: 31,300,509		probably null	Het
Slc38a10	T	C	11: 120,134,888		probably benign	Het
Slc38a6	T	C	12: 73,350,568	V328A	probably benign	Het
Slf2	T	C	19: 44,941,728	S415P	probably benign	Het
Spata17	C	A	1: 187,140,434	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369	D2237E	probably benign	Het
Swap70	T	A	7: 110,263,972	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,827,718	D505G	probably benign	Het
Traf1	A	G	2: 34,949,103	V70A	probably benign	Het
Traf3	T	A	12: 111,243,465	V165E	probably benign	Het
Trpc5	T	C	X: 144,411,799	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,241,305	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,334,244	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,255,552	I221V	probably benign	Het
Vmn2r97	T	A	17: 18,930,334	V481E	possibly damaging	Het
Wisp3	T	C	10: 39,154,993	N178S	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
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
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

2015-04-16