Mutagenetix > Incidental Mutation

Incidental Mutation 'R1577:Clca3b'

171207

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

039615-MU

Accession Numbers

Essential gene?

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

Stock #

R1577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144823519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 798 (I798N)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000159989]

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000029929

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	478	1.5e-21	SMART
FN3	758	857	5.49e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159989
AA Change: I798N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: I798N

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: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,094,183	N404S	possibly damaging	Het
Cep85	T	C	4: 134,152,288	E383G	probably damaging	Het
Chst4	A	T	8: 110,029,844	H379Q	probably benign	Het
Cldnd1	T	G	16: 58,732,653	L159R	possibly damaging	Het
Cntnap3	T	C	13: 64,758,290	E834G	probably damaging	Het
Col2a1	C	T	15: 97,979,202	R1065Q	probably damaging	Het
Dchs1	T	C	7: 105,765,955	D674G	probably damaging	Het
Dntt	A	G	19: 41,055,785	Y463C	probably damaging	Het
Egfr	A	G	11: 16,869,241	E257G	probably benign	Het
Eif4b	C	T	15: 102,089,901	R339*	probably null	Het
Fat1	C	T	8: 45,023,383	T1822M	probably benign	Het
Fgd3	T	C	13: 49,281,937	N282D	probably damaging	Het
Fmo4	T	C	1: 162,803,700	M233V	possibly damaging	Het
Gabbr2	T	A	4: 46,684,319	M652L	probably benign	Het
Gal3st2c	G	A	1: 94,006,928	V13M	probably damaging	Het
Gapvd1	C	T	2: 34,709,228	G686D	probably damaging	Het
Gdap1l1	T	G	2: 163,438,604	L20R	probably damaging	Het
Gm5800	A	T	14: 51,714,559	M82K	probably benign	Het
Grm6	T	A	11: 50,863,145	C759S	probably damaging	Het
Hs3st1	A	T	5: 39,615,050	D83E	probably benign	Het
Il12rb1	A	G	8: 70,810,606	D39G	probably damaging	Het
Ldhb	C	A	6: 142,492,598	K244N	possibly damaging	Het
Lypd6	C	T	2: 50,190,698	R133*	probably null	Het
Med13l	G	A	5: 118,721,392	G215S	probably damaging	Het
Ncoa1	T	C	12: 4,295,196	D606G	probably damaging	Het
Noc2l	C	T	4: 156,240,622	T151M	probably damaging	Het
Olfr1107	T	C	2: 87,071,397	T246A	probably benign	Het
Olfr1395	T	A	11: 49,149,189	C311S	probably benign	Het
Olfr1419	T	C	19: 11,870,377	T280A	probably damaging	Het
Olfr520	T	C	7: 99,735,356	L71P	probably damaging	Het
Olfr706	T	C	7: 106,886,010	K269R	probably benign	Het
Ppm1l	G	A	3: 69,553,070	G327R	probably damaging	Het
Rapgef5	C	T	12: 117,595,291	A282V	probably benign	Het
Rnf139	T	C	15: 58,899,518	V464A	probably damaging	Het
Rprd2	C	T	3: 95,764,735	E1119K	probably damaging	Het
Sipa1l2	G	A	8: 125,492,262	T112I	probably benign	Het
Skint6	T	C	4: 113,148,523	T363A	possibly damaging	Het
Slc22a16	G	T	10: 40,603,815	E607*	probably null	Het
Slc24a2	T	C	4: 86,991,411	Y690C	probably damaging	Het
Slc25a23	T	C	17: 57,047,306	S115G	probably benign	Het
Slc4a3	T	C	1: 75,550,891	L168P	probably damaging	Het
Spats2	T	A	15: 99,178,452	I137N	possibly damaging	Het
Stard4	A	T	18: 33,205,098	V133D	probably damaging	Het
Syn3	A	G	10: 86,448,864		probably null	Het
Tfpi	A	G	2: 84,433,103	I305T	probably damaging	Het
Tmtc1	T	A	6: 148,412,820		probably null	Het
Tpcn1	A	C	5: 120,544,420	W508G	probably damaging	Het
Ubr5	A	T	15: 38,030,730	N406K	possibly damaging	Het
Xrcc1	T	A	7: 24,565,627	L118*	probably null	Het
Zbtb5	T	C	4: 44,995,129	Y85C	probably damaging	Het
Zfand4	C	A	6: 116,329,412	Y735*	probably null	Het
Zfp180	G	T	7: 24,105,908	C584F	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
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

Predicted Primers

PCR Primer
(F):5'- GGCTTCATTGTCAGCCTGGATTGC -3'
(R):5'- AGCGTCTGTGACCTTTGACTCTTG -3'

Sequencing Primer
(F):5'- CAATGTAGACTTGGGTGCCATTTTC -3'
(R):5'- GTCCTCCCTGTATGTAACTGTG -3'

Posted On

2014-04-13