Mutagenetix > Incidental Mutation

Incidental Mutation 'R4828:Clca3b'

372559

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

042444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 144844512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 224 (T224K)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: T224K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: T224K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (106/108)

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,216,247	R239S	probably damaging	Het
Adat3	T	C	10: 80,607,047	S240P	probably benign	Het
Agbl5	G	A	5: 30,890,715	R111H	probably damaging	Het
Alg2	A	G	4: 47,471,563	V415A	probably benign	Het
Alpk2	T	C	18: 65,349,113	E141G	probably benign	Het
Ampd1	A	C	3: 103,081,097	T115P	probably damaging	Het
Ankrd12	A	G	17: 65,984,637	L1267P	probably damaging	Het
Arfgef3	A	T	10: 18,652,693	S315R	probably damaging	Het
Atp10d	A	C	5: 72,239,118	D222A	probably benign	Het
B9d1	A	G	11: 61,507,635	E47G	probably damaging	Het
Bag2	T	C	1: 33,746,887	D118G	probably damaging	Het
Bnip3l	G	T	14: 67,008,759	P9Q	probably damaging	Het
Casp8ap2	A	G	4: 32,639,807	N287S	probably benign	Het
Ccdc190	A	G	1: 169,933,896	D189G	probably damaging	Het
Ccdc88a	A	G	11: 29,463,210	K583E	probably damaging	Het
Cd84	A	T	1: 171,872,748	N144I	probably damaging	Het
Chrnd	A	G	1: 87,191,571		probably benign	Het
Crcp	A	G	5: 130,059,762	T119A	probably damaging	Het
Cul2	T	C	18: 3,431,013	Y596H	probably damaging	Het
Dip2c	T	A	13: 9,560,679	W356R	probably damaging	Het
Dlc1	T	A	8: 36,850,246	Q425L	possibly damaging	Het
Dnah7b	T	A	1: 46,128,112	V588D	possibly damaging	Het
Dock4	G	T	12: 40,668,437	G245W	probably damaging	Het
Dpf3	A	G	12: 83,294,499	I160T	possibly damaging	Het
Dstyk	A	G	1: 132,434,137	T102A	probably benign	Het
Eif3d	A	T	15: 77,960,029	L425*	probably null	Het
Elac2	A	G	11: 64,995,327	E477G	probably damaging	Het
Ephb3	G	A	16: 21,214,995	R23H	possibly damaging	Het
Exd1	C	T	2: 119,520,326	A485T	probably benign	Het
Ext2	G	A	2: 93,795,767	T316I	probably benign	Het
Fbf1	A	G	11: 116,148,951	V694A	probably benign	Het
Fgg	G	A	3: 83,008,370		probably benign	Het
Flnb	G	A	14: 7,919,238	V1664I	probably benign	Het
Flnc	G	A	6: 29,455,167	D1932N	probably damaging	Het
Gm1818	A	T	12: 48,555,626		noncoding transcript	Het
Gnai1	G	A	5: 18,291,472	S151L	probably damaging	Het
Golph3l	G	A	3: 95,591,748	R67H	possibly damaging	Het
Grk5	T	A	19: 60,987,775	C42*	probably null	Het
Herc1	G	A	9: 66,497,343		probably null	Het
Hey2	A	T	10: 30,834,183	H191Q	possibly damaging	Het
Il11	A	G	7: 4,776,482	V8A	probably benign	Het
Il23r	G	A	6: 67,431,651	P402L	probably benign	Het
Irf5	A	G	6: 29,531,141	N2S	probably damaging	Het
Lamb1	T	C	12: 31,298,930	Y606H	probably benign	Het
Larp4b	C	T	13: 9,170,898	R650C	probably damaging	Het
Lrpap1	T	C	5: 35,102,421	E111G	possibly damaging	Het
Lrrc36	T	A	8: 105,455,230	S388T	probably benign	Het
Med27	T	C	2: 29,377,938		probably benign	Het
Mrc1	T	G	2: 14,270,206	D439E	probably damaging	Het
Notch4	A	T	17: 34,570,060	E444D	probably damaging	Het
Nrm	G	A	17: 35,864,190	V137I	possibly damaging	Het
Nxpe5	T	A	5: 138,230,533	L4Q	possibly damaging	Het
Obscn	A	G	11: 59,086,670	V2052A	possibly damaging	Het
Oc90	A	T	15: 65,881,559	Y304N	probably damaging	Het
Olfr1046	T	A	2: 86,217,533	H59L	possibly damaging	Het
Olfr275	T	C	4: 52,826,138	V247A	probably damaging	Het
Olfr491	T	C	7: 108,317,470	V192A	probably benign	Het
Olfr653	T	A	7: 104,579,973	F109Y	possibly damaging	Het
Olfr888	T	C	9: 38,108,740	I13T	probably damaging	Het
Parp10	A	T	15: 76,243,081	I52N	probably benign	Het
Pdgfrb	C	A	18: 61,073,243	R608S	probably damaging	Het
Pecam1	A	G	11: 106,699,808	C47R	probably damaging	Het
Pirb	C	T	7: 3,717,603	G299S	probably benign	Het
Pkhd1l1	A	G	15: 44,529,405	E1712G	possibly damaging	Het
Plce1	T	C	19: 38,769,499	I1958T	probably damaging	Het
Plch2	C	T	4: 154,984,635	R1073Q	probably benign	Het
Pld5	A	C	1: 176,274,867	I3S	probably benign	Het
Polr1a	T	C	6: 71,966,401	W1207R	possibly damaging	Het
Polr2m	T	G	9: 71,483,768	I51L	possibly damaging	Het
Ppl	G	A	16: 5,104,926	R234C	probably damaging	Het
Ppp1r42	C	T	1: 9,999,411	R142H	probably benign	Het
Prokr1	A	G	6: 87,581,242	V387A	probably benign	Het
Prss23	A	T	7: 89,509,900	Y320*	probably null	Het
Ptprk	A	T	10: 28,560,054	M804L	probably damaging	Het
Rdh16f2	A	G	10: 127,874,954	S147G	probably benign	Het
Rgs7bp	T	C	13: 105,053,024	H89R	possibly damaging	Het
Rilpl2	G	T	5: 124,469,812	T115K	possibly damaging	Het
Rnf212	G	A	5: 108,729,468	S153F	probably damaging	Het
Rnf213	A	G	11: 119,416,629	D705G	possibly damaging	Het
Selenbp2	A	G	3: 94,704,119	N379S	probably benign	Het
Sema3e	G	A	5: 14,226,640	V312M	probably damaging	Het
Sh2d5	T	A	4: 138,258,255	L338Q	probably damaging	Het
Shank3	A	G	15: 89,500,199		probably benign	Het
Skor2	G	T	18: 76,860,418	G612C	probably damaging	Het
Slc22a16	A	G	10: 40,573,640	Y24C	probably damaging	Het
Slc4a1ap	T	A	5: 31,530,709	Y312*	probably null	Het
Slc5a7	A	T	17: 54,276,799	F488I	probably benign	Het
Snrnp200	A	G	2: 127,211,607	D130G	probably damaging	Het
Sorbs2	T	A	8: 45,741,615		probably benign	Het
Tmem91	T	G	7: 25,669,378	T161P	probably damaging	Het
Tpd52l1	G	A	10: 31,346,701	T99M	probably damaging	Het
Trps1	A	G	15: 50,660,677	*1036Q	probably null	Het
Tshr	A	T	12: 91,537,790	T501S	probably damaging	Het
Tubgcp3	T	C	8: 12,671,987	N15S	probably benign	Het
Unc5b	A	G	10: 60,772,348	S669P	possibly damaging	Het
Zfp970	A	G	2: 177,475,353	E240G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTGGAGAAAACAGCCTC -3'
(R):5'- TGACCAAGAAGAGTTGTCACTG -3'

Sequencing Primer
(F):5'- CAGCCTCTAGTCAGTTCAATGAG -3'
(R):5'- GAAGCTTCCAAACTGGTTCTGAG -3'

Posted On

2016-03-01