Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00499:Cryz'

6730

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 #

IGL00499

Quality Score

Status

Chromosome

Chromosomal Location

154302348-154328819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154310579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 13 (V13A)

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 benign
Transcript: ENSMUST00000029850
AA Change: V13A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199
AA Change: V13A

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: V13A

SMART Domains

Protein: ENSMUSP00000143311
Gene: ENSMUSG00000028199
AA Change: V13A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140644
AA Change: V13A

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115146
Gene: ENSMUSG00000028199
AA Change: V13A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144764
AA Change: V13A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199
AA Change: V13A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155232
AA Change: V13A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199
AA Change: V13A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155385
AA Change: V13A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122619
Gene: ENSMUSG00000028199
AA Change: V13A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184537
AA Change: V13A

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199
AA Change: V13A

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

possibly damaging
Transcript: ENSMUST00000194876
AA Change: V13A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199
AA Change: V13A

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 benign
Transcript: ENSMUST00000192462
AA Change: V13A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199
AA Change: V13A

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	C	A	10: 70,711,138 (GRCm39)		noncoding transcript	Het
Abcb9	T	C	5: 124,215,301 (GRCm39)	D480G	possibly damaging	Het
Adam26a	A	T	8: 44,021,896 (GRCm39)	N531K	possibly damaging	Het
AW554918	A	T	18: 25,553,122 (GRCm39)	K542*	probably null	Het
Blk	A	G	14: 63,618,169 (GRCm39)	F246L	probably damaging	Het
Camk1	T	C	6: 113,313,172 (GRCm39)	E292G	probably benign	Het
Ccdc88a	C	T	11: 29,449,341 (GRCm39)	T261I	probably benign	Het
Cep290	A	T	10: 100,379,189 (GRCm39)	Q57L	probably damaging	Het
Cpsf1	A	T	15: 76,484,416 (GRCm39)	H688Q	probably benign	Het
Dst	A	G	1: 34,329,504 (GRCm39)	K6858R	probably damaging	Het
Dync2h1	A	T	9: 7,168,700 (GRCm39)	V371E	possibly damaging	Het
Eps8	C	A	6: 137,499,886 (GRCm39)	E181*	probably null	Het
Flt4	T	C	11: 49,526,088 (GRCm39)	I796T	probably damaging	Het
Gmps	A	G	3: 63,921,788 (GRCm39)	N597S	probably benign	Het
Itgav	T	A	2: 83,633,339 (GRCm39)	M1011K	probably damaging	Het
Kif16b	A	G	2: 142,699,244 (GRCm39)	M112T	probably damaging	Het
Lig1	T	C	7: 13,032,756 (GRCm39)		probably null	Het
Lrrc30	A	G	17: 67,939,034 (GRCm39)	F182S	probably damaging	Het
Oxsm	A	T	14: 16,242,076 (GRCm38)	M231K	probably damaging	Het
Pnisr	T	C	4: 21,870,407 (GRCm39)		probably null	Het
Rsrc1	A	T	3: 66,989,933 (GRCm39)		probably benign	Het
Setd1b	A	T	5: 123,296,810 (GRCm39)		probably benign	Het
Tbx6	A	G	7: 126,380,701 (GRCm39)	Y8C	probably damaging	Het
Tmem33	T	C	5: 67,441,538 (GRCm39)	Y196H	probably damaging	Het
Traf5	T	C	1: 191,741,589 (GRCm39)	D96G	possibly damaging	Het
Tsc22d1	T	A	14: 76,656,357 (GRCm39)	D945E	probably damaging	Het
Tubb2b	T	C	13: 34,312,329 (GRCm39)	I155V	probably benign	Het
Usp13	T	A	3: 32,935,560 (GRCm39)	Y328N	probably damaging	Het
Usp17lc	G	A	7: 103,067,673 (GRCm39)	D323N	probably damaging	Het
Usp17lc	G	A	7: 103,067,672 (GRCm39)	M322I	probably damaging	Het
Zfp341	C	T	2: 154,476,151 (GRCm39)	T446I	probably damaging	Het
Zfp407	A	G	18: 84,579,877 (GRCm39)	L412P	probably damaging	Het
Zfp521	T	A	18: 14,072,177 (GRCm39)	D21V	probably benign	Het
Zranb1	A	G	7: 132,584,233 (GRCm39)		probably benign	Het

Other mutations in Cryz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03082:Cryz	APN	3	154,310,563 (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

2012-04-20