Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03082:Cryz'

417893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cryz

Ensembl Gene

ENSMUSG00000028199

Gene Name

crystallin, zeta

Synonyms

SEZ9, Sez9, quinone reductase

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL03082

Quality Score

Status

Chromosome

Chromosomal Location

154302348-154328819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154310563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 8 (M8V)

Ref Sequence

ENSEMBL: ENSMUSP00000142101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029850] [ENSMUST00000135723] [ENSMUST00000140644] [ENSMUST00000144764] [ENSMUST00000155232] [ENSMUST00000155385] [ENSMUST00000184537] [ENSMUST00000194876] [ENSMUST00000192462]

AlphaFold

P47199

Predicted Effect

probably damaging
Transcript: ENSMUST00000029850
AA Change: M8V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199
AA Change: M8V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	131	3.3e-14	PFAM
Pfam:ADH_zinc_N	160	290	1.3e-30	PFAM
Pfam:ADH_zinc_N_2	192	329	1.7e-20	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000135723
AA Change: M8V

SMART Domains

Protein: ENSMUSP00000143311
Gene: ENSMUSG00000028199
AA Change: M8V

Domain	Start	End	E-Value	Type
PDB:1YB5\|B	1	38	5e-17	PDB
SCOP:d1qora1	9	38	9e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140644
AA Change: M8V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115146
Gene: ENSMUSG00000028199
AA Change: M8V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	98	1.5e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144764
AA Change: M8V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199
AA Change: M8V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	132	2.6e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155232
AA Change: M8V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199
AA Change: M8V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	135	3.5e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155385
AA Change: M8V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122619
Gene: ENSMUSG00000028199
AA Change: M8V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	130	2.1e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000184537
AA Change: M8V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199
AA Change: M8V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	180	4.7e-17	PFAM
Pfam:ADH_zinc_N	160	218	5.4e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000194876
AA Change: M8V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199
AA Change: M8V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	139	2.2e-14	PFAM
Pfam:ADH_zinc_N	160	290	1.4e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192462
AA Change: M8V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199
AA Change: M8V

Domain	Start	End	E-Value	Type
Pfam:ADH_N	35	131	2.8e-16	PFAM
Pfam:ADH_zinc_N	160	290	1.8e-29	PFAM
Pfam:ADH_zinc_N_2	192	329	4.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195103

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. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic1	T	A	15: 99,594,428 (GRCm39)	N324K	probably benign	Het
Atpaf2	T	C	11: 60,294,670 (GRCm39)	E251G	probably damaging	Het
Cacna1d	T	C	14: 29,821,190 (GRCm39)	K1109E	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Chst1	C	T	2: 92,444,278 (GRCm39)	T250I	possibly damaging	Het
Cpne6	T	C	14: 55,753,760 (GRCm39)	L406P	probably damaging	Het
Dpysl2	T	C	14: 67,045,459 (GRCm39)	E438G	probably damaging	Het
Elovl1	T	C	4: 118,288,077 (GRCm39)	I71T	probably benign	Het
Eml2	T	A	7: 18,935,802 (GRCm39)	Y679N	probably damaging	Het
Fam185a	G	A	5: 21,660,836 (GRCm39)	V284I	possibly damaging	Het
Fpgs	C	T	2: 32,575,769 (GRCm39)	W391*	probably null	Het
Hdac11	C	T	6: 91,150,085 (GRCm39)	P295S	probably damaging	Het
Herc2	A	T	7: 55,835,671 (GRCm39)	I3260F	probably benign	Het
Hltf	G	A	3: 20,118,723 (GRCm39)		probably benign	Het
Immp2l	T	G	12: 41,160,900 (GRCm39)	V66G	possibly damaging	Het
Lrrc4c	T	C	2: 97,460,931 (GRCm39)	I519T	probably benign	Het
Megf8	A	G	7: 25,029,661 (GRCm39)	T402A	probably benign	Het
Mttp	T	G	3: 137,829,556 (GRCm39)	I111L	probably benign	Het
Mycbp2	T	A	14: 103,441,805 (GRCm39)	I1987F	probably benign	Het
Ncr1	T	A	7: 4,344,241 (GRCm39)		probably benign	Het
Nedd4	G	A	9: 72,584,676 (GRCm39)		probably null	Het
Nherf4	A	T	9: 44,162,083 (GRCm39)	S39T	possibly damaging	Het
Nnt	A	G	13: 119,533,404 (GRCm39)	F87S	probably damaging	Het
Nol6	A	G	4: 41,115,878 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,635,857 (GRCm39)	I491N	probably damaging	Het
Plcxd2	T	C	16: 45,785,473 (GRCm39)	I311V	probably damaging	Het
Pou2f3	C	A	9: 43,058,212 (GRCm39)		probably null	Het
Rgsl1	G	A	1: 153,675,693 (GRCm39)	T836I	possibly damaging	Het
Rttn	G	A	18: 89,002,072 (GRCm39)	G328D	probably damaging	Het
Serpina11	T	C	12: 103,952,560 (GRCm39)	E77G	probably benign	Het
Slc35f1	G	A	10: 52,809,234 (GRCm39)	V74I	probably benign	Het
Slc7a6	A	G	8: 106,919,854 (GRCm39)		probably null	Het
Smco2	A	G	6: 146,761,542 (GRCm39)	T154A	possibly damaging	Het
Tcerg1	A	G	18: 42,706,422 (GRCm39)	Y1033C	probably damaging	Het
Tmem87a	A	G	2: 120,227,847 (GRCm39)	F100S	possibly damaging	Het
Tssk4	T	C	14: 55,888,518 (GRCm39)	F129S	probably damaging	Het
Wdr43	C	T	17: 71,945,336 (GRCm39)	T315I	probably damaging	Het

Other mutations in Cryz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Cryz	APN	3	154,310,579 (GRCm39)	missense	possibly damaging	0.95
IGL00838:Cryz	APN	3	154,324,112 (GRCm39)	missense	probably damaging	1.00
IGL00969:Cryz	APN	3	154,324,163 (GRCm39)	nonsense	probably null
IGL01571:Cryz	APN	3	154,327,380 (GRCm39)	missense	probably damaging	1.00
R0049:Cryz	UTSW	3	154,317,189 (GRCm39)	missense	probably damaging	1.00
R0049:Cryz	UTSW	3	154,317,189 (GRCm39)	missense	probably damaging	1.00
R1116:Cryz	UTSW	3	154,327,240 (GRCm39)	splice site	probably benign
R1470:Cryz	UTSW	3	154,312,113 (GRCm39)	missense	probably damaging	1.00
R1470:Cryz	UTSW	3	154,312,113 (GRCm39)	missense	probably damaging	1.00
R1586:Cryz	UTSW	3	154,317,147 (GRCm39)	missense	probably benign	0.00
R2018:Cryz	UTSW	3	154,327,320 (GRCm39)	missense	probably damaging	1.00
R2223:Cryz	UTSW	3	154,324,191 (GRCm39)	missense	possibly damaging	0.86
R2334:Cryz	UTSW	3	154,327,828 (GRCm39)	missense	probably benign	0.04
R4488:Cryz	UTSW	3	154,324,094 (GRCm39)	splice site	probably benign
R5547:Cryz	UTSW	3	154,317,194 (GRCm39)	nonsense	probably null
R5595:Cryz	UTSW	3	154,312,155 (GRCm39)	missense	probably damaging	1.00
R5917:Cryz	UTSW	3	154,327,403 (GRCm39)	missense	probably benign	0.05
R7197:Cryz	UTSW	3	154,327,205 (GRCm39)	missense	probably damaging	0.99
R7473:Cryz	UTSW	3	154,312,157 (GRCm39)	missense	probably benign
R8121:Cryz	UTSW	3	154,327,382 (GRCm39)	missense	probably benign	0.00
R9215:Cryz	UTSW	3	154,324,446 (GRCm39)	missense	probably benign	0.00
R9222:Cryz	UTSW	3	154,317,203 (GRCm39)	missense	probably benign	0.03
R9651:Cryz	UTSW	3	154,327,765 (GRCm39)	missense	probably benign	0.00
Z1176:Cryz	UTSW	3	154,327,406 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02