Mutagenetix > Incidental Mutation

Incidental Mutation 'R7888:Cryba4'

609152

Institutional Source

Beutler Lab

Gene Symbol

Cryba4

Ensembl Gene

ENSMUSG00000066975

Gene Name

crystallin, beta A4

Synonyms

MMRRC Submission

045940-MU

Accession Numbers

Essential gene?

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

Stock #

R7888 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112394359-112400384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112398918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 42 (E42G)

Ref Sequence

ENSEMBL: ENSMUSP00000083826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031286] [ENSMUST00000086629] [ENSMUST00000112375] [ENSMUST00000112383] [ENSMUST00000112385] [ENSMUST00000131673]

AlphaFold

Q9JJV0

Predicted Effect

probably benign
Transcript: ENSMUST00000031286

SMART Domains

Protein: ENSMUSP00000031286
Gene: ENSMUSG00000029343

Domain	Start	End	E-Value	Type
low complexity region	19	47	N/A	INTRINSIC
XTALbg	58	140	9.71e-40	SMART
XTALbg	148	230	5.8e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086629
AA Change: E42G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000083826
Gene: ENSMUSG00000066975
AA Change: E42G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112375

SMART Domains

Protein: ENSMUSP00000107994
Gene: ENSMUSG00000029343

Domain	Start	End	E-Value	Type
low complexity region	19	47	N/A	INTRINSIC
XTALbg	58	140	9.71e-40	SMART
XTALbg	148	230	5.8e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112383
AA Change: E29G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108002
Gene: ENSMUSG00000066975
AA Change: E29G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112385
AA Change: E42G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108004
Gene: ENSMUSG00000066975
AA Change: E42G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131673

SMART Domains

Protein: ENSMUSP00000118399
Gene: ENSMUSG00000029343

Domain	Start	End	E-Value	Type
low complexity region	19	47	N/A	INTRINSIC
XTALbg	58	140	9.71e-40	SMART
XTALbg	148	230	5.8e-38	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	G	T	14: 8,246,415 (GRCm38)	Q459K	probably benign	Het
Ano3	T	A	2: 110,496,773 (GRCm39)	Y792F	probably damaging	Het
Aoc3	C	T	11: 101,223,323 (GRCm39)	H520Y	probably damaging	Het
Atp4b	A	G	8: 13,439,811 (GRCm39)	F137S	probably damaging	Het
Blvrb	A	G	7: 27,165,159 (GRCm39)	T160A	probably damaging	Het
Brd2	G	A	17: 34,335,995 (GRCm39)	R73W	probably damaging	Het
Btaf1	A	G	19: 36,943,036 (GRCm39)	T306A	probably benign	Het
Ccdc154	G	A	17: 25,383,578 (GRCm39)	V212M	possibly damaging	Het
Ccdc40	A	G	11: 119,119,967 (GRCm39)	E3G	unknown	Het
Cenpb	T	A	2: 131,021,762 (GRCm39)	E12V	probably damaging	Het
Cnot8	T	C	11: 58,002,137 (GRCm39)	S57P	probably benign	Het
Fam72a	T	A	1: 131,456,578 (GRCm39)	I47N	probably damaging	Het
Gm27027	A	C	2: 93,787,880 (GRCm39)		probably null	Het
Itgb2	T	C	10: 77,400,478 (GRCm39)	V697A	probably benign	Het
Jakmip1	A	G	5: 37,262,208 (GRCm39)	N336D	probably damaging	Het
Kansl1	T	C	11: 104,233,248 (GRCm39)	T760A	probably benign	Het
Lrrc37a	T	A	11: 103,392,307 (GRCm39)	E1039D	probably benign	Het
Meaf6	T	G	4: 125,003,213 (GRCm39)		probably null	Het
Mpz	T	C	1: 170,987,204 (GRCm39)		probably null	Het
Mtss1	A	T	15: 58,844,373 (GRCm39)	M82K	probably damaging	Het
Myo6	T	C	9: 80,203,947 (GRCm39)	S1063P	probably damaging	Het
Niban2	T	A	2: 32,812,137 (GRCm39)	Y406*	probably null	Het
Nsun6	T	A	2: 15,001,355 (GRCm39)	E400D	probably benign	Het
Or10al5	A	T	17: 38,062,888 (GRCm39)	N48Y	probably damaging	Het
Or1e26	T	C	11: 73,480,354 (GRCm39)	D70G	probably damaging	Het
Or1l4b	A	T	2: 37,036,334 (GRCm39)	M37L	probably benign	Het
Or2t26	T	C	11: 49,039,266 (GRCm39)	Y61H	probably damaging	Het
Or52ae7	T	A	7: 103,120,006 (GRCm39)	Y253*	probably null	Het
Or5au1	A	G	14: 52,273,347 (GRCm39)	S74P	probably damaging	Het
Or8j3b	C	A	2: 86,205,270 (GRCm39)	C162F	probably benign	Het
Pfdn5	T	A	15: 102,237,024 (GRCm39)	V92E	probably damaging	Het
Pik3c2g	T	C	6: 139,842,470 (GRCm39)	V801A		Het
Psme2b	T	A	11: 48,836,402 (GRCm39)	T182S	possibly damaging	Het
Ptcd3	G	A	6: 71,860,431 (GRCm39)	A592V	probably damaging	Het
Rabgap1	T	A	2: 37,427,319 (GRCm39)	Y633*	probably null	Het
Rnf39	A	T	17: 37,258,133 (GRCm39)	T222S	probably damaging	Het
Scnn1g	A	G	7: 121,342,878 (GRCm39)	N277S	probably damaging	Het
Slc16a13	T	G	11: 70,109,806 (GRCm39)	I232L	possibly damaging	Het
Slco2b1	T	G	7: 99,338,050 (GRCm39)	R111S	unknown	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Tmc3	T	C	7: 83,249,217 (GRCm39)	W269R	probably damaging	Het
Vmn2r4	T	C	3: 64,313,943 (GRCm39)	E346G	probably damaging	Het
Vps52	A	G	17: 34,184,725 (GRCm39)	N666S	probably damaging	Het
Wdfy4	C	T	14: 32,812,920 (GRCm39)	D1618N		Het
Zfp773	C	A	7: 7,135,978 (GRCm39)	C206F	probably benign	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
R9161:Cryba4	UTSW	5	112,396,039 (GRCm39)	critical splice donor site	probably null
R9393:Cryba4	UTSW	5	112,394,632 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGTGTCCCTTACAACCTGAG -3'
(R):5'- AGGCATGTGACCTCTGCTTTAC -3'

Sequencing Primer
(F):5'- ACACTCTTCAGCACTTGGGAG -3'
(R):5'- ATGTGACCTCTGCTTTACCTGTTTG -3'

Posted On

2019-12-20