Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01397:Crybb3'

79488

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crybb3

Ensembl Gene

ENSMUSG00000029352

Gene Name

crystallin, beta B3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01397

Quality Score

Status

Chromosome

Chromosomal Location

113223705-113229450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113227701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 40 (E40G)

Ref Sequence

ENSEMBL: ENSMUSP00000121929 (fasta)

Gene Model

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

AlphaFold

Q9JJU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000076069
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075440
Gene: ENSMUSG00000029352
AA Change: E40G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117143
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113347
Gene: ENSMUSG00000029352
AA Change: E40G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118226
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112618
Gene: ENSMUSG00000029352
AA Change: E40G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119627
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113572
Gene: ENSMUSG00000029352
AA Change: E40G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120506
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112718
Gene: ENSMUSG00000029352
AA Change: E40G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131708
AA Change: E40G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115758
Gene: ENSMUSG00000029352
AA Change: E40G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134039

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136352
AA Change: E40G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121559
Gene: ENSMUSG00000029352
AA Change: E40G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000140352
AA Change: E40G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121929
Gene: ENSMUSG00000029352
AA Change: E40G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155042

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	C	2: 127,876,811 (GRCm39)	T436P	possibly damaging	Het
Afap1	T	A	5: 36,126,052 (GRCm39)	V349E	probably damaging	Het
Arfgef1	C	T	1: 10,229,796 (GRCm39)	V1302I	probably benign	Het
Atp11a	T	A	8: 12,862,321 (GRCm39)	W58R	probably damaging	Het
Brpf3	A	T	17: 29,036,606 (GRCm39)	K670N	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cenpp	T	C	13: 49,794,759 (GRCm39)	D136G	probably damaging	Het
Cep85	T	C	4: 133,883,517 (GRCm39)	E124G	probably damaging	Het
Dennd2d	G	T	3: 106,394,365 (GRCm39)		probably null	Het
Dhx34	A	G	7: 15,944,468 (GRCm39)	L582P	probably damaging	Het
Dst	A	G	1: 34,296,825 (GRCm39)	K5738R	probably damaging	Het
Eif4g1	T	A	16: 20,498,425 (GRCm39)	L328Q	probably damaging	Het
Eya4	T	C	10: 23,015,897 (GRCm39)	K357E	probably benign	Het
F8	A	G	X: 74,423,145 (GRCm39)	S25P	probably benign	Het
Fgd2	A	G	17: 29,586,949 (GRCm39)	E293G	probably damaging	Het
Foxi1	T	A	11: 34,157,599 (GRCm39)	Q142L	probably damaging	Het
Gfm1	A	G	3: 67,350,991 (GRCm39)	E316G	probably benign	Het
Glb1l3	C	T	9: 26,736,491 (GRCm39)	D524N	probably benign	Het
Heatr5a	A	T	12: 51,941,152 (GRCm39)	V1366D	possibly damaging	Het
Idh1	T	C	1: 65,207,754 (GRCm39)	T142A	possibly damaging	Het
Lamc1	C	A	1: 153,126,880 (GRCm39)	G422V	probably damaging	Het
Lars1	A	T	18: 42,361,094 (GRCm39)	H691Q	probably damaging	Het
Ltbp2	T	C	12: 84,837,042 (GRCm39)	Y1259C	probably damaging	Het
Muc19	T	A	15: 91,778,498 (GRCm39)		noncoding transcript	Het
Nphs1	A	G	7: 30,186,089 (GRCm39)	D1240G	probably benign	Het
Or3a1b	T	A	11: 74,012,590 (GRCm39)	N158K	probably damaging	Het
Or5w1	A	T	2: 87,487,249 (GRCm39)	N5K	probably damaging	Het
Pabir2	G	A	X: 52,349,088 (GRCm39)	T121I	probably damaging	Het
Parp14	T	C	16: 35,679,098 (GRCm39)	N290S	probably benign	Het
Pex5l	G	A	3: 33,006,746 (GRCm39)	T541I	probably damaging	Het
Plch1	A	C	3: 63,639,150 (GRCm39)		probably null	Het
Ppp4r3b	C	T	11: 29,163,594 (GRCm39)	A722V	probably benign	Het
Ptges3	T	C	10: 127,906,069 (GRCm39)	S85P	probably benign	Het
R3hdm2	C	T	10: 127,294,719 (GRCm39)	R201W	probably damaging	Het
Rcan2	C	A	17: 44,147,359 (GRCm39)	Q66K	possibly damaging	Het
Skint4	A	G	4: 111,977,207 (GRCm39)	N199S	possibly damaging	Het
Smc4	A	G	3: 68,938,877 (GRCm39)	T951A	probably benign	Het
Smg1	A	T	7: 117,762,444 (GRCm39)		probably benign	Het
Snx30	T	C	4: 59,894,526 (GRCm39)	V368A	probably benign	Het
Spata31d1a	C	T	13: 59,849,552 (GRCm39)	A859T	probably damaging	Het
Tg	G	A	15: 66,567,941 (GRCm39)		probably benign	Het
Tmem132b	T	C	5: 125,775,792 (GRCm39)	V422A	probably benign	Het
Tnxb	T	C	17: 34,933,647 (GRCm39)	S2356P	probably damaging	Het
Vmn1r122	A	G	7: 20,867,707 (GRCm39)	V116A	possibly damaging	Het
Washc2	A	G	6: 116,224,959 (GRCm39)	D683G	probably benign	Het
Wdr35	C	A	12: 9,058,550 (GRCm39)	T580K	probably benign	Het
Wwc2	T	A	8: 48,321,311 (GRCm39)	N601I	unknown	Het

Other mutations in Crybb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-05