Mutagenetix > Incidental Mutation

Incidental Mutation 'R9161:Cryba4'

695690

Institutional Source

Beutler Lab

Gene Symbol

Cryba4

Ensembl Gene

ENSMUSG00000066975

Gene Name

crystallin, beta A4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R9161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112394359-112400384 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 112396039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086629] [ENSMUST00000112383] [ENSMUST00000112385]

AlphaFold

Q9JJV0

Predicted Effect

probably null
Transcript: ENSMUST00000086629

SMART Domains

Protein: ENSMUSP00000083826
Gene: ENSMUSG00000066975

Domain	Start	End	E-Value	Type
XTALbg	13	97	1.08e-37	SMART
XTALbg	106	194	2.59e-35	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112383

SMART Domains

Protein: ENSMUSP00000108002
Gene: ENSMUSG00000066975

Domain	Start	End	E-Value	Type
XTALbg	1	84	1.71e-35	SMART
XTALbg	93	181	2.59e-35	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112385

SMART Domains

Protein: ENSMUSP00000108004
Gene: ENSMUSG00000066975

Domain	Start	End	E-Value	Type
XTALbg	13	97	1.08e-37	SMART
XTALbg	106	194	2.59e-35	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: This gene encodes a member of the crystallin family of proteins that contribute to the transparency and refractive properties of the ocular lens. Certain mutations in the human ortholog of this gene are associated with cataract and bilateral microphthalmia. This gene is located adjacent to a related crystallin gene on chromosome 5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	A	8: 13,272,270 (GRCm39)	N1496I	probably damaging	Het
Arglu1	T	C	8: 8,733,941 (GRCm39)	E125G	possibly damaging	Het
Atad2	A	T	15: 57,989,185 (GRCm39)	I225N	possibly damaging	Het
Atrn	T	C	2: 130,777,470 (GRCm39)	F173S	probably damaging	Het
BC024063	T	A	10: 81,945,044 (GRCm39)	H221Q	probably benign	Het
Bnip5	T	A	17: 29,128,387 (GRCm39)	K175N	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdh24	A	T	14: 54,876,097 (GRCm39)	Y182N	probably damaging	Het
Cdkl4	A	G	17: 80,851,120 (GRCm39)	L194P	probably damaging	Het
Cep152	T	A	2: 125,408,574 (GRCm39)	R1327*	probably null	Het
Ckap5	A	T	2: 91,445,653 (GRCm39)	M1797L	probably benign	Het
Clasp1	A	T	1: 118,474,651 (GRCm39)	N895I	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cotl1	G	T	8: 120,549,456 (GRCm39)	D85E	probably benign	Het
Dync1h1	A	G	12: 110,625,023 (GRCm39)	K3817E	probably benign	Het
Ehd3	A	T	17: 74,134,480 (GRCm39)	R280*	probably null	Het
Erp29	T	C	5: 121,583,146 (GRCm39)	E260G	possibly damaging	Het
Fam135b	T	A	15: 71,334,417 (GRCm39)	R926W	possibly damaging	Het
Fbn1	T	C	2: 125,192,270 (GRCm39)	N1413S	probably damaging	Het
Fbxw8	A	G	5: 118,251,727 (GRCm39)	V262A	probably damaging	Het
Gabrb1	A	G	5: 72,187,199 (GRCm39)	D164G	probably damaging	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Get1	A	T	16: 95,953,139 (GRCm39)	R77W	probably damaging	Het
Gon4l	A	G	3: 88,808,955 (GRCm39)	N1733S	probably damaging	Het
Hmcn2	A	G	2: 31,242,758 (GRCm39)	T562A	probably benign	Het
Inha	A	G	1: 75,484,144 (GRCm39)	I85V	probably damaging	Het
Kif28	A	C	1: 179,526,244 (GRCm39)	V897G	probably benign	Het
Map1s	G	A	8: 71,366,250 (GRCm39)	R385H	probably damaging	Het
Map2	T	C	1: 66,477,503 (GRCm39)	V1750A	possibly damaging	Het
Mbd1	C	T	18: 74,407,792 (GRCm39)	P273L	probably benign	Het
Megf6	A	G	4: 154,352,172 (GRCm39)	T1226A	probably benign	Het
Muc5ac	T	A	7: 141,353,026 (GRCm39)	C791S	possibly damaging	Het
Nlrc5	A	C	8: 95,213,274 (GRCm39)	H883P	probably damaging	Het
Nrip3	C	T	7: 109,365,777 (GRCm39)	R91H	probably damaging	Het
Or10w1	G	A	19: 13,632,038 (GRCm39)	V82M	probably damaging	Het
Or12j3	C	T	7: 139,952,989 (GRCm39)	C178Y	probably damaging	Het
Or51a10	C	A	7: 103,699,725 (GRCm39)		probably benign	Het
Or8g21	A	T	9: 38,905,816 (GRCm39)	I305K	possibly damaging	Het
Or8k16	A	G	2: 85,520,231 (GRCm39)	T153A	probably benign	Het
Pdgfrb	T	G	18: 61,197,053 (GRCm39)	L163R	probably damaging	Het
Pik3ip1	G	T	11: 3,281,945 (GRCm39)	R34L	possibly damaging	Het
Pip4k2b	A	G	11: 97,615,245 (GRCm39)	F205S	possibly damaging	Het
Pttg1ip	A	C	10: 77,425,487 (GRCm39)	N60T	probably benign	Het
Rab3ip	C	T	10: 116,750,066 (GRCm39)	E356K	probably damaging	Het
Rai1	A	G	11: 60,076,682 (GRCm39)	N249D	probably benign	Het
Rd3l	T	C	12: 111,946,753 (GRCm39)	K8E	probably damaging	Het
Rnf32	A	G	5: 29,408,058 (GRCm39)	K96E	probably damaging	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Slc4a1ap	A	G	5: 31,685,474 (GRCm39)	K251E		Het
Spink5	T	A	18: 44,147,986 (GRCm39)	N875K	probably damaging	Het
Taf6	G	T	5: 138,178,160 (GRCm39)	A447D	probably benign	Het
Tbxas1	A	T	6: 38,999,989 (GRCm39)	I259F	probably damaging	Het
Tcap	G	T	11: 98,275,256 (GRCm39)	R130L	probably damaging	Het
Tyms	T	C	5: 30,266,040 (GRCm39)	E293G		Het
Vmn1r20	C	A	6: 57,408,759 (GRCm39)	F28L	probably benign	Het
Vmn2r120	A	T	17: 57,831,864 (GRCm39)	D308E		Het
Vmn2r69	T	A	7: 85,056,177 (GRCm39)	I654F	possibly damaging	Het
Zfp990	G	T	4: 145,261,509 (GRCm39)	V52L	possibly damaging	Het

Other mutations in Cryba4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Cryba4	APN	5	112,398,875 (GRCm39)	unclassified	probably benign
R0741:Cryba4	UTSW	5	112,394,554 (GRCm39)	missense	probably damaging	1.00
R5622:Cryba4	UTSW	5	112,398,990 (GRCm39)	missense	probably damaging	1.00
R5811:Cryba4	UTSW	5	112,398,937 (GRCm39)	missense	probably benign
R6644:Cryba4	UTSW	5	112,394,628 (GRCm39)	missense	probably damaging	1.00
R7008:Cryba4	UTSW	5	112,399,648 (GRCm39)	missense	probably benign
R7554:Cryba4	UTSW	5	112,398,969 (GRCm39)	missense	probably damaging	0.99
R7556:Cryba4	UTSW	5	112,398,969 (GRCm39)	missense	probably damaging	0.99
R7671:Cryba4	UTSW	5	112,396,039 (GRCm39)	critical splice donor site	probably null
R7888:Cryba4	UTSW	5	112,398,918 (GRCm39)	missense	probably benign	0.01
R9393:Cryba4	UTSW	5	112,394,632 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGTCGTCCTTAAGCCAGC -3'
(R):5'- ACTTGTGAGGCAAAGGCTG -3'

Sequencing Primer
(F):5'- TTAAGCCAGCTTACCACAGGTGTC -3'
(R):5'- TGTCAGTCTGGCACCTGG -3'

Posted On

2022-01-20