Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:Cryba4'

592156

Institutional Source

Beutler Lab

Gene Symbol

Cryba4

Ensembl Gene

ENSMUSG00000066975

Gene Name

crystallin, beta A4

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112246493-112252518 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 112248173 bp (GRCm38)

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: 99.3%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925 (GRCm38)	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091 (GRCm38)	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231 (GRCm38)	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062 (GRCm38)	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900 (GRCm38)	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986 (GRCm38)	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167 (GRCm38)	L219P	probably benign	Het
Boc	C	T	16: 44,491,849 (GRCm38)	V617M		Het
Ccl8	A	G	11: 82,115,207 (GRCm38)		probably benign	Het
Col18a1	A	G	10: 77,085,383 (GRCm38)	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086 (GRCm38)		probably null	Het
Csf2rb	A	G	15: 78,338,930 (GRCm38)	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016 (GRCm38)	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848 (GRCm38)	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030 (GRCm38)	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434 (GRCm38)		probably null	Het
Elp4	G	T	2: 105,904,481 (GRCm38)	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910 (GRCm38)	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490 (GRCm38)	Y2C	probably damaging	Het
Fam81b	G	T	13: 76,271,294 (GRCm38)	L46I	possibly damaging	Het
Fam81b	A	C	13: 76,271,293 (GRCm38)	L46R	probably damaging	Het
Fbxo15	T	A	18: 84,964,153 (GRCm38)	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980 (GRCm38)	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852 (GRCm38)	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276 (GRCm38)	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119 (GRCm38)	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517 (GRCm38)	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543 (GRCm38)	S529I	unknown	Het
Leo1	A	G	9: 75,445,562 (GRCm38)	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349 (GRCm38)	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569 (GRCm38)	S472P	probably benign	Het
Med27	T	A	2: 29,377,938 (GRCm38)	V33D		Het
Mup15	C	T	4: 61,438,289 (GRCm38)	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420 (GRCm38)	R199H		Het
Nebl	T	A	2: 17,390,916 (GRCm38)	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269 (GRCm38)	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259 (GRCm38)	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986 (GRCm38)	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991 (GRCm38)	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885 (GRCm38)	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353 (GRCm38)	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440 (GRCm38)	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353 (GRCm38)	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661 (GRCm38)	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547 (GRCm38)	R366H	not run	Het
Sgce	T	C	6: 4,691,564 (GRCm38)	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460 (GRCm38)	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262 (GRCm38)	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875 (GRCm38)	H150Q		Het
Slc5a4a	T	A	10: 76,147,550 (GRCm38)	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000 (GRCm38)	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707 (GRCm38)	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174 (GRCm38)	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698 (GRCm38)	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644 (GRCm38)	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238 (GRCm38)	V326A	possibly damaging	Het

Other mutations in Cryba4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Cryba4	APN	5	112,251,009 (GRCm38)	unclassified	probably benign
R0741:Cryba4	UTSW	5	112,246,688 (GRCm38)	missense	probably damaging	1.00
R5622:Cryba4	UTSW	5	112,251,124 (GRCm38)	missense	probably damaging	1.00
R5811:Cryba4	UTSW	5	112,251,071 (GRCm38)	missense	probably benign
R6644:Cryba4	UTSW	5	112,246,762 (GRCm38)	missense	probably damaging	1.00
R7008:Cryba4	UTSW	5	112,251,782 (GRCm38)	missense	probably benign
R7554:Cryba4	UTSW	5	112,251,103 (GRCm38)	missense	probably damaging	0.99
R7556:Cryba4	UTSW	5	112,251,103 (GRCm38)	missense	probably damaging	0.99
R7888:Cryba4	UTSW	5	112,251,052 (GRCm38)	missense	probably benign	0.01
R9161:Cryba4	UTSW	5	112,248,173 (GRCm38)	critical splice donor site	probably null
R9393:Cryba4	UTSW	5	112,246,766 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCTGTCGTCCTTAAGCCAG -3'
(R):5'- CTTGTGAGGCAAAGGCTGAG -3'

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

Posted On

2019-11-12