Mutagenetix > Incidental Mutation

Incidental Mutation 'R9222:Cryz'

699520

Institutional Source

Beutler Lab

Gene Symbol

Cryz

Ensembl Gene

ENSMUSG00000028199

Gene Name

crystallin, zeta

Synonyms

SEZ9, Sez9, quinone reductase

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9222 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154302348-154328819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154317203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 141 (F141L)

Ref Sequence

ENSEMBL: ENSMUSP00000029850 (fasta)

Gene Model

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

AlphaFold

P47199

Predicted Effect

probably benign
Transcript: ENSMUST00000029850
AA Change: F141L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199
AA Change: F141L

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

probably benign
Transcript: ENSMUST00000135723

SMART Domains

Protein: ENSMUSP00000143311
Gene: ENSMUSG00000028199

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140644

SMART Domains

Protein: ENSMUSP00000115146
Gene: ENSMUSG00000028199

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144764
AA Change: F141L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199
AA Change: F141L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155232
AA Change: F141L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199
AA Change: F141L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155385

SMART Domains

Protein: ENSMUSP00000122619
Gene: ENSMUSG00000028199

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184537
AA Change: F141L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199
AA Change: F141L

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 benign
Transcript: ENSMUST00000192462
AA Change: F141L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199
AA Change: F141L

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: ENSMUST00000194876
AA Change: F141L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199
AA Change: F141L

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: ENSMUST00000195103

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	C	A	5: 138,560,562 (GRCm39)	V278F	unknown	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Actr5	T	A	2: 158,473,423 (GRCm39)	N272K	probably damaging	Het
Afg3l2	T	C	18: 67,567,257 (GRCm39)	T198A	probably benign	Het
Aloxe3	A	G	11: 69,023,903 (GRCm39)	Y278C	probably damaging	Het
Apobec3	A	G	15: 79,783,270 (GRCm39)	I226V		Het
Arap2	T	A	5: 62,828,421 (GRCm39)	T917S	possibly damaging	Het
Arhgap40	T	C	2: 158,388,692 (GRCm39)	L545P	probably damaging	Het
Atp13a5	A	T	16: 29,133,472 (GRCm39)	L438H	probably damaging	Het
Ccdc191	T	A	16: 43,725,831 (GRCm39)	Y105N	probably damaging	Het
Ccdc7a	A	T	8: 129,525,610 (GRCm39)	F1406L	unknown	Het
Celsr1	A	G	15: 85,815,471 (GRCm39)	V1848A	possibly damaging	Het
Chn1	T	A	2: 73,443,499 (GRCm39)	N417I	probably damaging	Het
Cmya5	T	C	13: 93,230,579 (GRCm39)	K1503R	probably benign	Het
Dmac2l	T	C	12: 69,788,554 (GRCm39)	V151A	probably damaging	Het
Dpep2	T	A	8: 106,723,016 (GRCm39)	H13L		Het
Eif2b5	C	T	16: 20,321,382 (GRCm39)	R312*	probably null	Het
Evc	A	T	5: 37,477,650 (GRCm39)	M343K	probably benign	Het
Fbxw17	T	A	13: 50,577,367 (GRCm39)	D86E	probably damaging	Het
Fbxw9	T	A	8: 85,788,856 (GRCm39)	L202Q	probably damaging	Het
Fkbp9	G	T	6: 56,852,677 (GRCm39)	V466F	probably damaging	Het
Fras1	G	A	5: 96,805,087 (GRCm39)	R1243Q	probably benign	Het
Fsip2	C	T	2: 82,815,958 (GRCm39)	T3897I	probably benign	Het
Fut7	T	C	2: 25,315,191 (GRCm39)	S150P	possibly damaging	Het
Gstm5	A	G	3: 107,804,634 (GRCm39)	I73V	probably benign	Het
Hspb9	A	G	11: 100,604,769 (GRCm39)	M32V	possibly damaging	Het
Ift80	A	G	3: 68,825,894 (GRCm39)	I482T	possibly damaging	Het
Khk	C	T	5: 31,079,141 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,747,324 (GRCm39)	H3333Q	unknown	Het
Lamc1	G	T	1: 153,119,087 (GRCm39)	T844K	probably damaging	Het
Luc7l2	A	T	6: 38,542,633 (GRCm39)	I10L	probably benign	Het
Mosmo	T	A	7: 120,277,055 (GRCm39)	I23N	probably benign	Het
Mtcl2	A	G	2: 156,881,919 (GRCm39)	V711A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Nsun7	T	C	5: 66,418,366 (GRCm39)	V32A	probably benign	Het
Oog1	A	G	12: 87,653,016 (GRCm39)	D104G	probably damaging	Het
Or4b13	C	T	2: 90,082,820 (GRCm39)	V171M	possibly damaging	Het
Pde3a	A	G	6: 141,437,904 (GRCm39)	D991G	probably damaging	Het
Pds5a	G	A	5: 65,805,281 (GRCm39)	H522Y	probably benign	Het
Pi4ka	A	G	16: 17,176,225 (GRCm39)	S405P		Het
Plk4	T	A	3: 40,760,990 (GRCm39)	V440E	possibly damaging	Het
Prkd2	A	G	7: 16,577,699 (GRCm39)	I51V	probably damaging	Het
Ptprt	T	C	2: 161,402,106 (GRCm39)	T1042A	probably damaging	Het
Rsph6a	C	A	7: 18,801,986 (GRCm39)	T600N	possibly damaging	Het
Scn11a	A	T	9: 119,611,013 (GRCm39)	V946E	probably damaging	Het
Sec11a	G	A	7: 80,565,634 (GRCm39)	L170F	probably damaging	Het
Slc15a5	A	G	6: 137,961,450 (GRCm39)	I215T		Het
Slc1a1	A	G	19: 28,882,794 (GRCm39)	I353V	probably benign	Het
Smox	A	G	2: 131,362,843 (GRCm39)	E374G	possibly damaging	Het
Sytl2	A	G	7: 90,050,633 (GRCm39)	T727A	possibly damaging	Het
Taar7d	A	C	10: 23,904,124 (GRCm39)	K335N	probably benign	Het
Tacc2	T	A	7: 130,227,985 (GRCm39)	S1557T	probably benign	Het
Tbx19	C	A	1: 164,966,609 (GRCm39)	V422L	probably benign	Het
Tdrd1	G	T	19: 56,831,679 (GRCm39)	V357F	probably benign	Het
Tdrd6	A	G	17: 43,939,231 (GRCm39)	C606R	probably damaging	Het
Tmcc1	C	G	6: 116,020,049 (GRCm39)	G468R		Het
Tmem209	G	A	6: 30,506,838 (GRCm39)	T93I	probably damaging	Het
Trpv1	T	C	11: 73,141,681 (GRCm39)	V568A	possibly damaging	Het
Tsbp1	A	T	17: 34,648,922 (GRCm39)	I43L		Het
Tubgcp2	T	C	7: 139,587,965 (GRCm39)	D220G	probably damaging	Het
Vmn1r11	A	G	6: 57,114,992 (GRCm39)	R219G	possibly damaging	Het
Zan	A	G	5: 137,465,463 (GRCm39)	S431P	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAAGCTGGCACTGTCAAG -3'
(R):5'- CTGACTCCCATGTTTTGTGAAAATG -3'

Sequencing Primer
(F):5'- GTCAAGGTCCCAGCCATCTTAG -3'
(R):5'- CCCATGTTTTGTGAAAATGATCTTC -3'

Posted On

2022-02-07