Mutagenetix > Incidental Mutation

Incidental Mutation 'R9003:Clca3b'

685078

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

068833-MU

Accession Numbers

Essential gene?

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

Stock #

R9003 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 144827311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 653 (W653*)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably null
Transcript: ENSMUST00000159989
AA Change: W653*

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: W653*

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: 99.3%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,886,278	H917Y	possibly damaging	Het
Acot4	A	G	12: 84,043,195	K222R	possibly damaging	Het
Akap12	A	G	10: 4,356,744	S1290G	probably benign	Het
Apopt1	A	G	12: 111,721,755	*45W	probably null	Het
Arid1a	T	C	4: 133,684,488	I1311V	unknown	Het
Asf1b	G	T	8: 83,955,901	E25*	probably null	Het
Atp10a	T	A	7: 58,807,455	W901R	probably damaging	Het
Aurkc	T	A	7: 6,996,548	I18N	probably damaging	Het
Carmil2	A	G	8: 105,697,273	T1253A	probably damaging	Het
Ccdc146	T	C	5: 21,303,134	T639A	possibly damaging	Het
Cdca4	A	G	12: 112,822,039	V23A	probably benign	Het
Chpt1	A	G	10: 88,477,081	F290L	probably damaging	Het
Cpb2	A	T	14: 75,242,428		probably benign	Het
Cul9	A	G	17: 46,525,075	V1215A	possibly damaging	Het
Cxxc4	A	T	3: 134,239,670	N4I	unknown	Het
Eps8l1	G	T	7: 4,461,017	V47F	possibly damaging	Het
Exoc6	T	C	19: 37,598,649	I537T	probably damaging	Het
Fbn2	T	C	18: 58,043,519	Y2040C	probably damaging	Het
Gfm2	T	G	13: 97,146,381		probably benign	Het
Jak2	A	T	19: 29,276,840	M187L	probably benign	Het
Kif5b	A	G	18: 6,224,047	V247A	probably benign	Het
Klhl22	T	C	16: 17,771,748	V91A	probably damaging	Het
Ldhd	T	C	8: 111,630,262	S17G	probably benign	Het
Madd	C	A	2: 91,158,014	E1223*	probably null	Het
Mecom	T	C	3: 29,980,490	I346V	probably benign	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Nek4	C	T	14: 30,982,514	T662M	probably benign	Het
Olfr10	C	T	11: 49,318,328	P261S	possibly damaging	Het
Olfr1222	T	A	2: 89,125,680	Q17L	possibly damaging	Het
Olfr1290	A	G	2: 111,490,066	F31L	probably benign	Het
Olfr1513	T	A	14: 52,349,311	H245L	probably damaging	Het
Olfr201	A	T	16: 59,268,900	F256I	probably benign	Het
Olfr896-ps1	C	T	9: 38,292,047	T34I	probably benign	Het
Phc3	G	A	3: 30,965,858	T19I	possibly damaging	Het
Pla2g4e	T	A	2: 120,176,801	Q472L	probably benign	Het
Plcg2	C	T	8: 117,615,263	T1121I		Het
Plin2	T	C	4: 86,662,087	T146A	probably benign	Het
Pum1	T	G	4: 130,747,082	S488A	probably benign	Het
Robo1	A	G	16: 72,742,114		probably benign	Het
Rsbn1	T	C	3: 103,914,872	L102P	probably damaging	Het
Sbno2	A	T	10: 80,060,215	V939E	probably damaging	Het
Scarf1	A	T	11: 75,515,243	T118S	possibly damaging	Het
Sdcbp2	G	A	2: 151,587,193	V171M	probably benign	Het
Sh3pxd2b	T	C	11: 32,411,571	I261T	probably damaging	Het
Slc4a9	A	G	18: 36,540,734		probably null	Het
Smpdl3a	A	G	10: 57,807,881	Y245C	probably damaging	Het
Stk39	T	C	2: 68,392,118	I201V	probably damaging	Het
Timm44	A	G	8: 4,274,204	L25P	possibly damaging	Het
Tinf2	T	C	14: 55,680,402	H210R	probably benign	Het
Tmem168	A	T	6: 13,591,447	Y457N	probably benign	Het
Topbp1	T	C	9: 103,323,528	S587P	probably benign	Het
Tpp1	T	A	7: 105,748,949	I336F	probably benign	Het
Ttc28	G	A	5: 111,277,030	V1574I	probably benign	Het
Vmn2r52	A	T	7: 10,171,254	D219E	probably benign	Het
Zbtb40	G	T	4: 137,018,593	A43E	probably damaging	Het
Zcchc11	A	G	4: 108,542,832	K1277E	probably damaging	Het
Zfp970	G	A	2: 177,475,217	A195T	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
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'- TTCCTTCCATGGTTCAAGTAAAACT -3'
(R):5'- CACTCGAGCAAGAAGTCCCA -3'

Sequencing Primer
(F):5'- AAAAGGGATGCCTCCGC -3'
(R):5'- ACCACACTCCCAGTCATCG -3'

Posted On

2021-10-11