Mutagenetix > Incidental Mutation

Incidental Mutation 'R7197:Cryz'

559994

Institutional Source

Beutler Lab

Gene Symbol

Cryz

Ensembl Gene

ENSMUSG00000028199

Gene Name

crystallin, zeta

Synonyms

SEZ9, Sez9, quinone reductase

MMRRC Submission

045276-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R7197 (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 154327205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 240 (S240P)

Ref Sequence

ENSEMBL: ENSMUSP00000029850 (fasta)

Gene Model

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

AlphaFold

P47199

Predicted Effect

probably damaging
Transcript: ENSMUST00000029850
AA Change: S240P

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

SMART Domains

Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199
AA Change: S240P

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: ENSMUST00000155232

SMART Domains

Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184537

SMART Domains

Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199

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: ENSMUST00000192462
AA Change: S240P

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

SMART Domains

Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199
AA Change: S240P

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 damaging
Transcript: ENSMUST00000194876
AA Change: S240P

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

SMART Domains

Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199
AA Change: S240P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,165,505 (GRCm39)		probably null	Het
Aars2	T	C	17: 45,819,885 (GRCm39)	Y221H	probably damaging	Het
Abca8b	G	A	11: 109,836,648 (GRCm39)	R1216*	probably null	Het
Acad8	A	T	9: 26,888,967 (GRCm39)		probably null	Het
Acer2	A	G	4: 86,805,287 (GRCm39)	T84A	probably null	Het
Adgrb2	A	G	4: 129,903,315 (GRCm39)	N613S	probably damaging	Het
Arap2	T	C	5: 62,798,729 (GRCm39)	D1300G	possibly damaging	Het
Castor1	T	C	11: 4,168,949 (GRCm39)	C39R	probably damaging	Het
Ccl11	A	T	11: 81,948,665 (GRCm39)		probably benign	Het
Cfh	A	T	1: 140,016,505 (GRCm39)	Y1151*	probably null	Het
Cobll1	A	G	2: 64,928,882 (GRCm39)	S815P	probably benign	Het
Csmd2	A	G	4: 128,404,826 (GRCm39)	Y2404C		Het
F13a1	T	C	13: 37,100,860 (GRCm39)	D428G	probably damaging	Het
Fbxo42	A	G	4: 140,927,396 (GRCm39)	S559G	probably benign	Het
Fry	A	G	5: 150,393,232 (GRCm39)	S263G		Het
Fshr	C	T	17: 89,292,897 (GRCm39)	A594T	probably damaging	Het
Gm1527	A	G	3: 28,980,690 (GRCm39)	M597V	probably null	Het
Gpr158	A	T	2: 21,815,412 (GRCm39)	T602S	probably damaging	Het
Hmgxb4	C	A	8: 75,756,624 (GRCm39)	T583K	probably damaging	Het
Igkv8-30	C	T	6: 70,094,069 (GRCm39)	C114Y	probably damaging	Het
Igsf5	T	A	16: 96,204,546 (GRCm39)	N366K	probably damaging	Het
Kif15	T	C	9: 122,838,991 (GRCm39)		probably null	Het
Klk1b26	T	A	7: 43,665,821 (GRCm39)		probably null	Het
Lama1	G	T	17: 68,044,700 (GRCm39)	E200*	probably null	Het
Lpar5	C	T	6: 125,059,347 (GRCm39)	T356I	probably benign	Het
Lrch3	A	T	16: 32,810,665 (GRCm39)	T538S	probably damaging	Het
Mansc4	A	G	6: 146,977,203 (GRCm39)	S138P	probably damaging	Het
Mief1	T	C	15: 80,134,061 (GRCm39)	S373P	possibly damaging	Het
Nbas	G	T	12: 13,570,751 (GRCm39)	V2053F	possibly damaging	Het
Nek11	T	C	9: 105,121,614 (GRCm39)	E435G	probably damaging	Het
Nynrin	A	T	14: 56,109,380 (GRCm39)	I1496F	probably benign	Het
Odf1	A	T	15: 38,219,794 (GRCm39)	M41L	probably benign	Het
Or10a5	A	G	7: 106,635,364 (GRCm39)	M8V	probably benign	Het
Or4c115	A	G	2: 88,927,626 (GRCm39)	V215A	probably benign	Het
Or4c29	A	T	2: 88,740,708 (GRCm39)	F10I	probably benign	Het
Or7h8	T	G	9: 20,123,851 (GRCm39)	S69A	probably benign	Het
Oxnad1	T	C	14: 31,818,473 (GRCm39)	V106A	possibly damaging	Het
Padi4	C	A	4: 140,488,969 (GRCm39)	E157*	probably null	Het
Parp10	A	T	15: 76,126,616 (GRCm39)	F217L	probably damaging	Het
Pcdhb18	T	A	18: 37,623,436 (GRCm39)	S255R	probably benign	Het
Pde4c	G	T	8: 71,197,978 (GRCm39)	G102W	probably damaging	Het
Pde6a	T	C	18: 61,391,295 (GRCm39)	Y547H	probably damaging	Het
Phf11b	A	T	14: 59,563,507 (GRCm39)	L137I	probably benign	Het
Pigh	A	C	12: 79,130,463 (GRCm39)	I134S	probably damaging	Het
Pigt	G	A	2: 164,344,436 (GRCm39)	V362M	probably damaging	Het
Pld1	A	G	3: 28,078,401 (GRCm39)	D20G	probably damaging	Het
Pou3f2	T	C	4: 22,487,288 (GRCm39)	R282G	probably damaging	Het
Ppp2r5d	A	G	17: 46,996,527 (GRCm39)	V382A	probably damaging	Het
Prdm16	T	C	4: 154,425,967 (GRCm39)	E606G	probably damaging	Het
Psg28	A	G	7: 18,164,509 (GRCm39)	Y68H	probably damaging	Het
Qpctl	C	A	7: 18,882,944 (GRCm39)	W56L	probably damaging	Het
Rab11fip5	G	A	6: 85,319,137 (GRCm39)	P584L	probably damaging	Het
Sde2	C	T	1: 180,678,843 (GRCm39)	H36Y	probably benign	Het
Sema4d	T	C	13: 51,856,872 (GRCm39)	S787G	probably benign	Het
Sgca	C	T	11: 94,864,014 (GRCm39)		probably null	Het
Shroom3	A	G	5: 93,090,463 (GRCm39)	E1071G	probably damaging	Het
Skint5	A	G	4: 113,437,679 (GRCm39)		probably null	Het
Slc44a3	T	A	3: 121,319,411 (GRCm39)	D110V	probably benign	Het
Slc4a4	A	C	5: 89,082,433 (GRCm39)		probably benign	Het
Slc4a8	A	G	15: 100,688,857 (GRCm39)	D389G	probably damaging	Het
Sp3	C	G	2: 72,809,953 (GRCm39)	E11Q	probably benign	Het
Srrm2	A	G	17: 24,037,198 (GRCm39)	S1281G	unknown	Het
Tat	A	T	8: 110,723,459 (GRCm39)	I316F	probably benign	Het
Thoc5	A	G	11: 4,865,563 (GRCm39)	T381A	probably benign	Het
Tiam1	T	C	16: 89,681,826 (GRCm39)	Y384C	probably damaging	Het
Tmem45a	A	T	16: 56,632,026 (GRCm39)	F197L	probably damaging	Het
Trav8d-1	A	G	14: 53,016,435 (GRCm39)	Y107C	probably damaging	Het
Trim10	T	A	17: 37,187,846 (GRCm39)	V354D	probably damaging	Het
Unc45b	A	T	11: 82,831,013 (GRCm39)		probably null	Het
Unc79	A	G	12: 103,078,765 (GRCm39)	I1643M	probably benign	Het
Unc80	G	T	1: 66,560,725 (GRCm39)	G818*	probably null	Het
Usp15	A	T	10: 122,966,910 (GRCm39)	M470K	possibly damaging	Het
Vldlr	T	C	19: 27,212,241 (GRCm39)	V85A	probably benign	Het
Vma21-ps	A	G	4: 52,496,994 (GRCm39)	V84A	probably benign	Het
Vmn2r67	C	T	7: 84,785,774 (GRCm39)	V744I	possibly damaging	Het
Wdr73	A	G	7: 80,542,946 (GRCm39)	C221R	probably benign	Het
Zxdc	C	T	6: 90,355,819 (GRCm39)	H443Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- AACATGCACTGTTGGTTCTGATG -3'
(R):5'- GCACAGTCAGAACTTCCCTTC -3'

Sequencing Primer
(F):5'- TCTGATGCGTGCTTAGAGAAG -3'
(R):5'- GAGAGACCCCAATGATGCTTGTTTC -3'

Posted On

2019-06-26