Mutagenetix > Incidental Mutation

Incidental Mutation 'R1083:Crybb3'

99138

Institutional Source

Beutler Lab

Gene Symbol

Crybb3

Ensembl Gene

ENSMUSG00000029352

Gene Name

crystallin, beta B3

Synonyms

MMRRC Submission

039169-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1083 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

113223705-113229450 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to T at 113228444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076069] [ENSMUST00000117143] [ENSMUST00000118226] [ENSMUST00000119627] [ENSMUST00000120506] [ENSMUST00000131708] [ENSMUST00000140352] [ENSMUST00000136352]

AlphaFold

Q9JJU9

Predicted Effect

probably benign
Transcript: ENSMUST00000076069

SMART Domains

Protein: ENSMUSP00000075440
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.5e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117143

SMART Domains

Protein: ENSMUSP00000113347
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.5e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118226

SMART Domains

Protein: ENSMUSP00000112618
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.7e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119627

SMART Domains

Protein: ENSMUSP00000113572
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.5e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120506

SMART Domains

Protein: ENSMUSP00000112718
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.5e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131708

SMART Domains

Protein: ENSMUSP00000115758
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	79	8.84e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155042

Predicted Effect

probably benign
Transcript: ENSMUST00000140352

SMART Domains

Protein: ENSMUSP00000121929
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	119	7.78e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136352

SMART Domains

Protein: ENSMUSP00000121559
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
Pfam:Crystall	25	65	2.9e-12	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.0%

Validation Efficiency

100% (38/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	C	6: 92,805,046 (GRCm39)		probably benign	Het
Adamts17	G	A	7: 66,797,322 (GRCm39)	C986Y	probably damaging	Het
AI987944	A	G	7: 41,024,763 (GRCm39)	V75A	probably benign	Het
Arhgap10	T	C	8: 78,244,378 (GRCm39)	Y12C	probably damaging	Het
Atp11b	G	A	3: 35,832,162 (GRCm39)		probably benign	Het
Ccer1	T	A	10: 97,530,520 (GRCm39)	D394E	possibly damaging	Het
Cdh2	T	C	18: 16,777,016 (GRCm39)	N273S	possibly damaging	Het
Cfap65	G	T	1: 74,957,663 (GRCm39)		probably benign	Het
D7Ertd443e	G	A	7: 133,950,663 (GRCm39)	Q337*	probably null	Het
Dixdc1	C	T	9: 50,588,293 (GRCm39)		probably benign	Het
Dut	GCGGC	GCGGCCGGC	2: 125,089,748 (GRCm39)		probably null	Het
Fbxo2	A	G	4: 148,250,234 (GRCm39)		probably null	Het
Gm5174	T	C	10: 86,491,972 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,076,643 (GRCm39)		probably benign	Het
Il12a	C	T	3: 68,602,666 (GRCm39)	T112M	probably damaging	Het
Itpr1	T	A	6: 108,487,657 (GRCm39)	V2361D	possibly damaging	Het
Jag1	G	A	2: 136,938,152 (GRCm39)	L283F	probably damaging	Het
Lamb2	A	C	9: 108,360,892 (GRCm39)	D538A	probably benign	Het
Map10	T	A	8: 126,397,178 (GRCm39)	C190*	probably null	Het
Pcnx2	C	T	8: 126,498,843 (GRCm39)	R1552H	probably damaging	Het
Phf1	T	C	17: 27,156,244 (GRCm39)		probably benign	Het
Pitx2	A	G	3: 129,012,418 (GRCm39)	T276A	probably damaging	Het
Pparg	A	G	6: 115,467,107 (GRCm39)	D490G	probably damaging	Het
Rnf10	A	T	5: 115,398,163 (GRCm39)		probably benign	Het
Sbp	T	C	17: 24,161,704 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,900,841 (GRCm39)	L942H	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sfmbt1	A	T	14: 30,509,498 (GRCm39)	N326Y	possibly damaging	Het
Slx4	G	A	16: 3,808,774 (GRCm39)	Q389*	probably null	Het
Srrm3	T	A	5: 135,883,263 (GRCm39)	V206E	probably damaging	Het
Sspo	T	A	6: 48,447,933 (GRCm39)	D2270E	possibly damaging	Het
Sulf1	AAGGGA	AAGGGAGGGA	1: 12,906,388 (GRCm39)		probably null	Het
Vmn1r14	T	A	6: 57,211,184 (GRCm39)	I210N	probably damaging	Het
Wasf3	T	G	5: 146,372,182 (GRCm39)	L13R	probably damaging	Het
Yes1	T	C	5: 32,809,101 (GRCm39)		probably null	Het
Zfp292	T	C	4: 34,807,569 (GRCm39)	D1830G	probably damaging	Het
Zfp541	A	G	7: 15,812,637 (GRCm39)	N430S	probably benign	Het

Other mutations in Crybb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Crybb3	APN	5	113,227,701 (GRCm39)	missense	probably damaging	0.99
R0125:Crybb3	UTSW	5	113,227,675 (GRCm39)	missense	possibly damaging	0.70
R0279:Crybb3	UTSW	5	113,227,619 (GRCm39)	splice site	probably null
R0360:Crybb3	UTSW	5	113,223,819 (GRCm39)	missense	probably damaging	0.99
R0364:Crybb3	UTSW	5	113,223,819 (GRCm39)	missense	probably damaging	0.99
R1687:Crybb3	UTSW	5	113,227,633 (GRCm39)	missense	probably damaging	1.00
R4031:Crybb3	UTSW	5	113,227,735 (GRCm39)	missense	probably damaging	1.00
R7719:Crybb3	UTSW	5	113,223,834 (GRCm39)	missense	probably damaging	1.00
R8155:Crybb3	UTSW	5	113,225,466 (GRCm39)	missense	probably damaging	1.00
R8334:Crybb3	UTSW	5	113,223,845 (GRCm39)	missense	possibly damaging	0.48
R8753:Crybb3	UTSW	5	113,226,247 (GRCm39)	critical splice donor site	probably null
R9114:Crybb3	UTSW	5	113,225,407 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2014-01-10