Mutagenetix > Incidental Mutation

Incidental Mutation 'R8546:Clca3b'

659621

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: 0.060) question?

Stock #

R8546 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144827397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 625 (S625C)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000159989
AA Change: S625C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: S625C

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	G	11: 101,990,861	R77G	probably damaging	Het
Acot1	T	C	12: 84,017,365	S416P	probably benign	Het
Adcy9	G	T	16: 4,418,905	A214E	probably benign	Het
Atp11a	T	A	8: 12,851,083	W971R	probably damaging	Het
Axl	C	T	7: 25,774,163	R346H	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Cabin1	T	C	10: 75,742,267	D532G	probably damaging	Het
Cdh20	A	G	1: 104,934,044		probably benign	Het
Col3a1	G	A	1: 45,340,939		probably benign	Het
Ctu2	T	C	8: 122,479,363	L281P	probably damaging	Het
Cyb5a	G	A	18: 84,871,634		probably null	Het
Cyb5rl	T	A	4: 107,068,726	V35D	probably damaging	Het
Dnah17	A	G	11: 118,124,275	F381S	probably benign	Het
Eif3a	A	T	19: 60,766,770	N991K	unknown	Het
Eif6	A	G	2: 155,826,500		probably benign	Het
Fahd1	T	C	17: 24,850,083	M7V	possibly damaging	Het
Fam171b	A	G	2: 83,855,451	T160A	probably damaging	Het
Fnip1	A	G	11: 54,510,000	E1075G	probably benign	Het
Fras1	G	A	5: 96,709,966	V2040I	probably benign	Het
Gjc2	G	T	11: 59,176,356	D433E	unknown	Het
Gm14085	A	T	2: 122,522,754	M472L	probably benign	Het
Hist1h2bl	G	A	13: 21,715,872	T91M	probably damaging	Het
Igsf9b	T	C	9: 27,333,130	S794P	possibly damaging	Het
Irx6	A	T	8: 92,678,636	R377S	probably benign	Het
Khnyn	A	G	14: 55,885,818	T10A	probably benign	Het
Kmt2e	A	T	5: 23,481,244	H389L	probably damaging	Het
Lin7c	A	G	2: 109,896,371	I122V	probably null	Het
Lonp1	G	A	17: 56,626,702	P58S	probably benign	Het
Loxl4	T	C	19: 42,607,588	H142R	probably benign	Het
Mcm6	C	T	1: 128,345,948	E382K	possibly damaging	Het
Mettl2	T	A	11: 105,131,573	N196K	probably benign	Het
Myo7b	T	C	18: 31,990,148	E712G	probably benign	Het
Ncam2	C	T	16: 81,517,531	T465I	probably benign	Het
Olfr860	T	A	9: 19,846,389	T77S	probably damaging	Het
Padi4	T	C	4: 140,757,530	E340G	probably damaging	Het
Patj	T	A	4: 98,437,397	S490R	probably benign	Het
Pkd1l3	G	A	8: 109,666,983	S1981N	possibly damaging	Het
Poll	T	A	19: 45,557,977	D208V	probably damaging	Het
Polr3f	A	G	2: 144,532,364	D64G	probably damaging	Het
Prkdc	A	G	16: 15,663,035	Y340C	probably damaging	Het
Prmt6	C	T	3: 110,250,718	R85Q	possibly damaging	Het
Rgl3	T	C	9: 21,987,860	K140R	probably benign	Het
Rhoj	A	G	12: 75,375,350	T61A	probably benign	Het
Skor1	T	C	9: 63,142,288	D795G	probably damaging	Het
Tekt5	A	G	16: 10,358,013	V556A	probably benign	Het
Tlr1	T	A	5: 64,927,031	I68F	probably damaging	Het
Tnni3k	G	T	3: 154,792,807	N798K	probably benign	Het
Tuft1	T	A	3: 94,622,113	E227D	probably benign	Het
Tulp1	T	C	17: 28,363,736	K146R	probably benign	Het
Uhrf1bp1l	A	G	10: 89,794,535	N399S	probably damaging	Het
Usp24	G	A	4: 106,402,129	A1616T	probably benign	Het
Ythdc1	A	T	5: 86,826,748	K452N	possibly damaging	Het
Zscan4-ps3	T	A	7: 11,612,770	H244Q	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
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
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'- GGGCAGAGGTTTAACACATTG -3'
(R):5'- TTTTCAGACAGGCACTTGGAC -3'

Sequencing Primer
(F):5'- CAGAGGTTTAACACATTGCAGCTAG -3'
(R):5'- TTCAGACAGGCACTTGGACTTACAG -3'

Posted On

2021-01-18