Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Clca3b'

568734

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144841420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 319 (M319L)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159989
AA Change: M319L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: M319L

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,676,239	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,214,201	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,246,139	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,386,163	T552K	possibly damaging	Het
Arhgap28	T	C	17: 67,895,884		probably null	Het
Arid5b	A	T	10: 68,128,922	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,621	K56N	probably benign	Het
C2	C	T	17: 34,881,688	G52D	probably benign	Het
Casz1	C	T	4: 148,947,033	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,809,108	D778G	unknown	Het
Cdh5	A	G	8: 104,142,793	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,808,611	A445V	probably damaging	Het
Csmd1	G	A	8: 16,058,707	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 53,919,018	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,403,760	T381P	probably damaging	Het
Ddb2	G	A	2: 91,236,884		probably benign	Het
Ddx24	C	A	12: 103,416,259	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,829,738	L1615P	unknown	Het
Dnah8	T	A	17: 30,784,125	D3599E	probably benign	Het
Dst	T	C	1: 34,006,224	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,823,594	D156G	probably benign	Het
Enpp2	A	G	15: 54,877,774		probably null	Het
Ephx2	A	G	14: 66,085,354	V490A	probably damaging	Het
Etnppl	A	G	3: 130,629,575	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,193,581		probably benign	Het
Fam162b	A	T	10: 51,590,186		probably null	Het
Fancl	A	G	11: 26,403,362	E86G	probably damaging	Het
Flii	G	A	11: 60,719,040	T615I	probably benign	Het
Fndc7	G	T	3: 108,872,221	Q336K	probably benign	Het
Gm14025	T	C	2: 129,037,852	D718G	unknown	Het
Gm26661	T	C	14: 7,791,911	C109R	unknown	Het
H2-DMb1	T	C	17: 34,159,462		probably null	Het
H2-T10	C	T	17: 36,119,297	G251R	probably damaging	Het
Harbi1	T	C	2: 91,720,699	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,695,225	M119T	unknown	Het
Ighe	T	A	12: 113,272,334	Y124F		Het
Ighv7-1	T	C	12: 113,896,529	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,385,393		probably null	Het
Inpp5a	A	G	7: 139,525,670	D179G	probably damaging	Het
Itgad	A	T	7: 128,189,807	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,560,071	H238L	probably benign	Het
Kctd17	T	A	15: 78,435,642	C189S	probably damaging	Het
Larp4b	C	A	13: 9,158,580	A423E	probably benign	Het
Llgl2	A	G	11: 115,850,730	E562G	possibly damaging	Het
Macf1	T	C	4: 123,374,425	T6734A	probably benign	Het
Maz	G	A	7: 127,024,593	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,944,933	G125*	probably null	Het
Mvp	A	G	7: 126,993,609	S377P	probably benign	Het
Nin	C	T	12: 70,043,734	R969Q		Het
Nktr	C	T	9: 121,727,361	T35I	probably damaging	Het
Nktr	T	A	9: 121,748,291	M475K	possibly damaging	Het
Nod2	T	A	8: 88,653,066	V65D	probably damaging	Het
Olfr1249	A	T	2: 89,630,103	I265N	possibly damaging	Het
Olfr135	T	C	17: 38,208,716	V157A	probably benign	Het
Olfr1487	A	G	19: 13,619,578	I96V	probably benign	Het
Olfr1493-ps1	C	T	19: 13,726,906	A215V	probably benign	Het
Olfr203	T	C	16: 59,303,248	F32L	probably benign	Het
Olfr398	A	G	11: 73,983,843	V255A	probably benign	Het
Olfr794	T	A	10: 129,570,849	S65T	probably damaging	Het
Olfr868	A	T	9: 20,101,430	I224F	possibly damaging	Het
Opa1	A	T	16: 29,586,981	E121D	probably benign	Het
Osbpl2	A	G	2: 180,150,201	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,170,774	D38V	possibly damaging	Het
Prtg	C	T	9: 72,890,840	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,863,424	V748G	possibly damaging	Het
Reg2	A	T	6: 78,406,154	D28V	probably benign	Het
Rhpn1	A	T	15: 75,704,397	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,399,973	E294G	possibly damaging	Het
Scara3	T	A	14: 65,931,416	I251L	probably benign	Het
Slc23a2	G	A	2: 132,089,123	T152I	probably damaging	Het
Slc39a2	T	G	14: 51,894,193	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,962,019	Y937C	probably damaging	Het
Tpp2	T	C	1: 43,978,778	L779S	probably damaging	Het
Tssk2	T	C	16: 17,899,363	V210A	possibly damaging	Het
Ttn	T	A	2: 76,895,593	T6100S	unknown	Het
Tufm	G	A	7: 126,489,587	E317K	possibly damaging	Het
Wdfy4	A	G	14: 33,047,314	S2219P		Het
Wtap	T	C	17: 12,980,946	N50S	possibly 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
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
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'- ATGTGATATGTTCAATGGTGGTACC -3'
(R):5'- AGGTGGTTGAATTCTGCACAG -3'

Sequencing Primer
(F):5'- CAGGCTGGCTTAAAACTAATGCTC -3'
(R):5'- CAATGTAGAAGCTCCAAACCTAC -3'

Posted On

2019-09-13