Mutagenetix > Incidental Mutation

Incidental Mutation 'R9455:Clca3b'

714522

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: 0.053) question?

Stock #

R9455 (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 144823262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 884 (T884S)

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

unknown
Transcript: ENSMUST00000159989
AA Change: T884S

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: T884S

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: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,403,897	Y3740H	probably damaging	Het
Acsl6	G	T	11: 54,319,926		probably benign	Het
Adamts5	C	T	16: 85,870,129	D492N	probably damaging	Het
Als2	T	C	1: 59,180,137	E1218G	probably damaging	Het
BC055324	G	T	1: 163,954,152	T902K	probably benign	Het
Bcl2l15	C	T	3: 103,836,053	T90I	unknown	Het
Bsn	A	G	9: 108,111,332	V2407A	unknown	Het
Casp8ap2	T	C	4: 32,643,924	M999T	possibly damaging	Het
Ccdc66	G	A	14: 27,486,915	P461S	probably benign	Het
Cd46	G	A	1: 195,062,396	L345F	possibly damaging	Het
Cep295	A	T	9: 15,333,750	S1137T	possibly damaging	Het
Chd7	A	G	4: 8,752,061	Y186C	unknown	Het
Cndp2	T	A	18: 84,672,121	Y232F	probably benign	Het
Cx3cr1	A	T	9: 120,051,593	Y248N	probably damaging	Het
Dnm3	A	T	1: 162,320,955	N282K	possibly damaging	Het
Emilin2	T	C	17: 71,274,490	I414V	probably benign	Het
F3	A	T	3: 121,734,217	N288I	probably damaging	Het
Fat4	T	C	3: 38,891,263	L1435P		Het
Fbxw14	A	T	9: 109,274,499	N371K	probably benign	Het
Fn1	T	A	1: 71,607,953	E1559D	probably benign	Het
Frrs1	T	A	3: 116,902,323	M497K	possibly damaging	Het
Gm45861	C	T	8: 27,551,366	Q1000*	probably null	Het
Gm5415	A	T	1: 32,546,826	M1K	probably null	Het
Gpr152	T	C	19: 4,143,845	S462P	probably benign	Het
Irgq	A	G	7: 24,531,792	N136S	probably benign	Het
Kdm2b	T	C	5: 122,961,474	Y134C	probably damaging	Het
Klf12	A	T	14: 100,109,790	L35H	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Ksr1	A	T	11: 79,020,776	C727S	possibly damaging	Het
Lpin3	G	T	2: 160,895,339	R102L	probably benign	Het
Ltv1	T	C	10: 13,182,373	E229G	probably damaging	Het
Ly6f	T	A	15: 75,269,799	Y30*	probably null	Het
Map2k7	C	G	8: 4,243,957	R168G	probably damaging	Het
Mep1a	T	C	17: 43,494,976	E100G	probably benign	Het
Mrgpra6	T	A	7: 47,189,219	Y46F	probably damaging	Het
Mroh6	C	A	15: 75,888,056	R143L	probably benign	Het
Myom2	T	A	8: 15,106,293	H713Q	probably benign	Het
Ndn	C	T	7: 62,348,589	P61L	possibly damaging	Het
Olfr65	G	T	7: 103,906,993	V182F		Het
Pear1	T	A	3: 87,759,181	T72S	possibly damaging	Het
Sel1l3	T	A	5: 53,131,815	N888I	probably damaging	Het
Sell	A	T	1: 164,066,649	T171S	probably benign	Het
Sin3b	G	T	8: 72,724,053	A37S	possibly damaging	Het
Sipa1l1	T	C	12: 82,387,625	F723S	probably damaging	Het
Slc26a8	T	C	17: 28,644,614	T724A	probably damaging	Het
Slc51a	T	G	16: 32,486,195	N25H	probably damaging	Het
Slc9a4	T	C	1: 40,629,452	F752L	probably benign	Het
Slco4a1	A	C	2: 180,473,577	D649A	probably benign	Het
Tax1bp1	T	A	6: 52,766,044	H805Q	probably damaging	Het
Tgfb1i1	T	C	7: 128,252,837	F303L	probably damaging	Het
Tsg101	A	T	7: 46,913,403	D34E	probably damaging	Het
Tspoap1	T	C	11: 87,770,533	S604P	probably damaging	Het
Ttll2	C	A	17: 7,352,293	W78C	probably damaging	Het
Ttn	A	G	2: 76,918,990	F3905S	possibly damaging	Het
Txnrd2	G	T	16: 18,429,865	C57F	probably damaging	Het
Vcan	A	T	13: 89,689,333	D2697E	probably damaging	Het
Vwa8	G	A	14: 79,062,675	V983I	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
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
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'- GTACGGACACTTTGGTACCCAG -3'
(R):5'- CCTAAAGAGGCTGGCTCAAAAG -3'

Sequencing Primer
(F):5'- ACTTTGGTACCCAGACCAGGAG -3'
(R):5'- ATTGCAATCCAGGCTGAC -3'

Posted On

2022-06-15