Mutagenetix > Incidental Mutation

Incidental Mutation 'R7798:Clca3b'

600341

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 #

R7798 (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 C at 144828130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 495 (S495G)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000159989
AA Change: S495G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: S495G

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: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,135,732	N128I	probably damaging	Het
5830473C10Rik	T	C	5: 90,597,511	S608P	possibly damaging	Het
Abca13	A	G	11: 9,291,664	T1176A	probably benign	Het
Abca9	A	G	11: 110,138,179	V851A	probably benign	Het
Abcc6	C	A	7: 45,976,853	E1494*	probably null	Het
Adamts14	A	T	10: 61,271,173	V56E	probably damaging	Het
Adamts15	G	A	9: 30,904,643	T639M	probably damaging	Het
Arhgap11a	A	C	2: 113,843,335	V70G	probably damaging	Het
BC051665	A	T	13: 60,784,435	D113E	probably benign	Het
Best1	T	C	19: 9,991,671	Y227C	probably damaging	Het
Camk2b	A	G	11: 5,978,399	S447P	probably benign	Het
Ccdc88a	C	A	11: 29,477,348	Q1018K	probably benign	Het
Cfap74	T	A	4: 155,422,622	V180D		Het
Clca3a1	T	A	3: 144,757,962	T185S	probably damaging	Het
Cyb5r2	A	T	7: 107,753,948	Y96N	possibly damaging	Het
Cyp21a1	T	C	17: 34,804,321	K27E	probably benign	Het
Cyp2ab1	T	C	16: 20,312,416	E321G	probably benign	Het
Des	T	C	1: 75,362,359	I228T	probably damaging	Het
Dis3l	G	T	9: 64,341,017	P39T	probably benign	Het
Disp2	A	C	2: 118,791,879	I1031L	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,439,456		probably benign	Het
Etl4	G	A	2: 20,781,946		probably null	Het
Fgf23	A	T	6: 127,073,214	D62V	probably damaging	Het
Galnt15	C	T	14: 32,029,905	T138I	possibly damaging	Het
Ggt6	A	T	11: 72,435,541		probably benign	Het
Gm28710	T	C	5: 16,856,658	F801L	possibly damaging	Het
Gm9573	C	G	17: 35,621,254	G680A	unknown	Het
Gpr180	T	A	14: 118,153,686	V209D	probably damaging	Het
Gzma	A	T	13: 113,096,324	F78Y	probably benign	Het
Igkv8-30	A	T	6: 70,117,371	C19S	probably benign	Het
Il1r1	G	A	1: 40,310,366	V361I	probably benign	Het
Intu	T	C	3: 40,691,929	V598A	probably damaging	Het
Itpr2	A	G	6: 146,386,015	F471L	probably benign	Het
Kntc1	T	A	5: 123,786,294	V1081E	probably benign	Het
Kntc1	T	A	5: 123,819,117	V2163E	possibly damaging	Het
Macf1	T	C	4: 123,378,100	K6552E	probably damaging	Het
Marf1	T	C	16: 14,138,451	H842R	probably benign	Het
Mgat4b	A	G	11: 50,225,670	T10A	possibly damaging	Het
Muc5ac	T	C	7: 141,794,041		probably null	Het
Nrk	CGCAGCAGCAGCAGCAGCAGC	CGCAGCAGCAGCAGCAGC	X: 138,982,677		probably benign	Het
Nsun4	T	G	4: 116,051,174	S730R	possibly damaging	Het
Olfr1112	A	T	2: 87,192,292	I202L	probably benign	Het
Olfr1310	A	G	2: 112,008,272	F305L	probably benign	Het
Olfr351	T	C	2: 36,860,336	E4G	probably benign	Het
Olfr360	A	T	2: 37,069,174	S290C	probably damaging	Het
Olfr727	A	T	14: 50,127,438	Y287F	probably damaging	Het
Padi3	C	T	4: 140,786,439	E653K	probably benign	Het
Pde4a	A	G	9: 21,198,663	E280G	possibly damaging	Het
Phactr3	G	A	2: 178,283,910	R326H	probably benign	Het
Prob1	G	A	18: 35,653,344	P619L	possibly damaging	Het
Ptk2	G	A	15: 73,295,375	R368W	probably damaging	Het
Rgs6	A	G	12: 83,069,519	T240A	probably benign	Het
Rpa1	A	T	11: 75,312,809	Y356N	probably damaging	Het
Rxrb	T	A	17: 34,033,605	D165E	probably damaging	Het
Sco1	A	G	11: 67,053,802	T84A	possibly damaging	Het
Sepsecs	T	C	5: 52,647,189	I380V	probably benign	Het
Sfmbt1	T	A	14: 30,816,802	W793R	probably damaging	Het
Slco3a1	A	G	7: 74,318,596	S459P	probably benign	Het
Smg1	A	T	7: 118,171,939	S1503R	possibly damaging	Het
Sox2	G	A	3: 34,650,642	R76H	probably damaging	Het
Spty2d1	G	A	7: 46,996,056	S613F	probably damaging	Het
Stab2	A	T	10: 86,957,912	Y440N	probably damaging	Het
Syn3	A	G	10: 86,080,253	Y290H	probably damaging	Het
Tex15	C	T	8: 33,581,847	S2474F	possibly damaging	Het
Tgtp1	A	G	11: 48,987,332	F182S	probably benign	Het
Tmcc1	A	T	6: 116,043,578	S304R		Het
Tmem130	T	G	5: 144,743,770	K275Q	probably damaging	Het
Tmem9	C	A	1: 136,034,189	T174K	probably damaging	Het
Ttyh3	C	T	5: 140,634,783	R233Q	probably damaging	Het
Twnk	T	C	19: 45,007,668	M180T	probably benign	Het
Ube4a	A	G	9: 44,933,331	V874A	probably damaging	Het
Ugt2a3	T	C	5: 87,327,723	N350S	probably damaging	Het
Vegfa	C	T	17: 46,031,835	G19D	probably damaging	Het
Vmn2r2	C	A	3: 64,134,097	C399F	possibly damaging	Het
Vmn2r65	G	T	7: 84,946,322	P385T	probably benign	Het
Vmn2r65	A	G	7: 84,946,984	F164S	probably damaging	Het
Zcchc6	A	T	13: 59,815,575	M323K	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
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'- TTATCTTCCTGGAAATCGGAGG -3'
(R):5'- AACTCAAAATTACACTGAACTACCTT -3'

Sequencing Primer
(F):5'- CCTGGAAATCGGAGGTGGTG -3'
(R):5'- TTTCCAGAGTATTAAAGGCCAGACG -3'

Posted On

2019-11-26