Mutagenetix > Incidental Mutation

Incidental Mutation 'R0279:Crybb3'

24539

Institutional Source

Beutler Lab

Gene Symbol

Crybb3

Ensembl Gene

ENSMUSG00000029352

Gene Name

crystallin, beta B3

Synonyms

MMRRC Submission

038501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0279 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113223705-113229450 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 113227619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121559 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000155042

Predicted Effect

probably null
Transcript: ENSMUST00000136352

SMART Domains

Protein: ENSMUSP00000121559
Gene: ENSMUSG00000029352

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

Predicted Effect

probably null
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

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.6%

Validation Efficiency

99% (82/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528J11Rik	A	T	4: 118,386,490 (GRCm39)	M1L	probably benign	Het
5730596B20Rik	T	A	6: 52,156,182 (GRCm39)		probably benign	Het
Acrbp	T	C	6: 125,030,917 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acss3	A	G	10: 106,920,732 (GRCm39)	I126T	possibly damaging	Het
Aff3	T	C	1: 38,574,650 (GRCm39)	E110G	probably damaging	Het
Aldh1a3	T	C	7: 66,059,000 (GRCm39)	I113V	probably benign	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Atp2b4	A	G	1: 133,657,440 (GRCm39)		probably benign	Het
Atp8a1	C	T	5: 67,970,435 (GRCm39)		probably null	Het
Bhmt	A	G	13: 93,761,972 (GRCm39)	C104R	probably damaging	Het
Cct5	T	G	15: 31,591,177 (GRCm39)	E508A	probably damaging	Het
Celsr1	T	A	15: 85,787,065 (GRCm39)	E2761D	probably benign	Het
Clstn1	T	C	4: 149,728,131 (GRCm39)	S600P	probably damaging	Het
Cnppd1	A	G	1: 75,113,573 (GRCm39)	S232P	probably damaging	Het
Csmd1	A	G	8: 16,273,249 (GRCm39)	I861T	probably damaging	Het
Cyp2d10	A	C	15: 82,289,540 (GRCm39)	S191A	possibly damaging	Het
Ddx10	T	C	9: 53,146,604 (GRCm39)	D206G	probably damaging	Het
Dnah1	G	T	14: 31,024,332 (GRCm39)	H916N	possibly damaging	Het
Dnah9	A	G	11: 65,802,615 (GRCm39)		probably null	Het
Epb42	G	A	2: 120,859,525 (GRCm39)		probably benign	Het
Etnppl	A	G	3: 130,423,062 (GRCm39)	R248G	probably damaging	Het
Eya3	T	C	4: 132,446,558 (GRCm39)	F369L	probably damaging	Het
Fam170b	T	C	14: 32,556,025 (GRCm39)		probably benign	Het
Fli1	A	T	9: 32,372,723 (GRCm39)	V105D	probably damaging	Het
Fmo1	T	C	1: 162,657,841 (GRCm39)	I433M	possibly damaging	Het
Fndc3b	C	A	3: 27,511,155 (GRCm39)	C785F	probably benign	Het
Foxe3	T	C	4: 114,782,765 (GRCm39)	D149G	probably damaging	Het
Gk5	T	C	9: 96,056,857 (GRCm39)		probably benign	Het
Gm14226	A	G	2: 154,867,372 (GRCm39)	D443G	possibly damaging	Het
Gm9796	C	T	11: 95,588,821 (GRCm39)		noncoding transcript	Het
Golga4	A	T	9: 118,398,061 (GRCm39)	R52S	probably benign	Het
Hey2	C	A	10: 30,710,006 (GRCm39)	C249F	probably damaging	Het
Ipo9	A	T	1: 135,348,101 (GRCm39)		probably benign	Het
Ireb2	C	A	9: 54,793,877 (GRCm39)	T269K	probably benign	Het
Kansl3	A	G	1: 36,391,050 (GRCm39)	V274A	probably damaging	Het
Kcnk2	C	T	1: 188,942,169 (GRCm39)	A352T	possibly damaging	Het
Lamc2	T	C	1: 153,006,442 (GRCm39)	E903G	probably benign	Het
Lepr	A	G	4: 101,607,541 (GRCm39)	K253R	probably benign	Het
Lmntd2	T	C	7: 140,793,536 (GRCm39)		probably benign	Het
Lrrc39	A	T	3: 116,371,952 (GRCm39)	T240S	probably benign	Het
Lrrc43	A	G	5: 123,635,085 (GRCm39)		probably null	Het
Maf	T	C	8: 116,432,495 (GRCm39)	M370V	possibly damaging	Het
Mib2	G	A	4: 155,745,673 (GRCm39)	S46L	possibly damaging	Het
Mms22l	C	T	4: 24,497,867 (GRCm39)	T63I	probably damaging	Het
Morc2a	T	A	11: 3,633,989 (GRCm39)	S700R	probably benign	Het
Mpz	A	G	1: 170,987,498 (GRCm39)		probably benign	Het
Ncam2	T	C	16: 81,420,225 (GRCm39)		probably benign	Het
Niban1	T	C	1: 151,584,957 (GRCm39)		probably null	Het
Nudt14	C	T	12: 112,902,037 (GRCm39)	A123T	probably damaging	Het
Odad3	A	G	9: 21,901,543 (GRCm39)		probably benign	Het
Or10h1	C	T	17: 33,418,298 (GRCm39)	T92I	probably benign	Het
Or2a7	G	A	6: 43,151,692 (GRCm39)	M257I	probably benign	Het
Or9g20	A	T	2: 85,629,879 (GRCm39)	I245N	possibly damaging	Het
Otoa	T	C	7: 120,710,302 (GRCm39)		probably benign	Het
Pik3cg	G	A	12: 32,254,790 (GRCm39)	T399I	probably damaging	Het
Pkn3	C	T	2: 29,973,309 (GRCm39)	A377V	probably benign	Het
Ppan	A	G	9: 20,802,825 (GRCm39)	N327S	probably benign	Het
Prkca	T	C	11: 107,944,937 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,543,033 (GRCm39)	V320E	probably damaging	Het
Ptprq	A	G	10: 107,444,278 (GRCm39)	V1442A	probably damaging	Het
Rapgef1	C	T	2: 29,616,239 (GRCm39)	R834C	probably damaging	Het
Rbms1	G	T	2: 60,672,754 (GRCm39)	N44K	probably damaging	Het
Rfwd3	A	C	8: 112,009,365 (GRCm39)	F404V	probably benign	Het
Rimbp3	G	T	16: 17,027,317 (GRCm39)	R247L	probably benign	Het
Serpinb1b	T	C	13: 33,277,696 (GRCm39)	S310P	possibly damaging	Het
Smtn	C	A	11: 3,480,235 (GRCm39)	V329L	probably damaging	Het
Snapc2	T	C	8: 4,304,979 (GRCm39)		probably benign	Het
Spam1	A	T	6: 24,800,418 (GRCm39)	M386L	probably benign	Het
Syne2	A	G	12: 76,142,387 (GRCm39)	E6208G	probably damaging	Het
Teddm1a	T	C	1: 153,768,369 (GRCm39)	Y278H	probably damaging	Het
Tnfaip6	A	T	2: 51,945,928 (GRCm39)	N258I	possibly damaging	Het
Trpm4	C	T	7: 44,971,472 (GRCm39)	R188Q	probably damaging	Het
Ttbk2	A	T	2: 120,579,441 (GRCm39)	H491Q	probably benign	Het
Urgcp	C	T	11: 5,666,989 (GRCm39)	E450K	probably benign	Het
Vmn1r228	T	C	17: 20,996,637 (GRCm39)	N294D	probably benign	Het
Wdfy3	A	T	5: 102,015,958 (GRCm39)	C2606S	probably damaging	Het
Wdr33	T	A	18: 32,021,377 (GRCm39)	H642Q	unknown	Het
Zbtb46	A	G	2: 181,053,567 (GRCm39)	S382P	possibly damaging	Het
Zfp217	A	G	2: 169,961,700 (GRCm39)	I209T	probably benign	Het
Zranb3	T	A	1: 127,891,510 (GRCm39)	N822I	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
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
R1083:Crybb3	UTSW	5	113,228,444 (GRCm39)	utr 5 prime	probably benign
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

PCR Primer
(F):5'- TGGTGCTAACTCTGAGCTGGACAC -3'
(R):5'- TGAGGCTGCCCTGCTGATTTTC -3'

Sequencing Primer
(F):5'- cgccaCAGGAACTTATGGAT -3'
(R):5'- AGTTGCTCACTGAGGTCAC -3'

Posted On

2013-04-16