Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Cryz'

40863

Institutional Source

Beutler Lab

Gene Symbol

Cryz

Ensembl Gene

ENSMUSG00000028199

Gene Name

crystallin, zeta

Synonyms

SEZ9, Sez9, quinone reductase

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

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

Stock #

R0049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154302348-154328819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 154317189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 136 (A136D)

Ref Sequence

ENSEMBL: ENSMUSP00000142101 (fasta)

Gene Model

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

AlphaFold

P47199

Predicted Effect

probably damaging
Transcript: ENSMUST00000029850
AA Change: A136D

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

SMART Domains

Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199
AA Change: A136D

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 damaging
Transcript: ENSMUST00000144764
AA Change: A136D

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

SMART Domains

Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199
AA Change: A136D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155232
AA Change: A136D

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

SMART Domains

Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199
AA Change: A136D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155385
AA Change: A136D

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

SMART Domains

Protein: ENSMUSP00000122619
Gene: ENSMUSG00000028199
AA Change: A136D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000184537
AA Change: A136D

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

SMART Domains

Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199
AA Change: A136D

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: A136D

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

SMART Domains

Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199
AA Change: A136D

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: A136D

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

SMART Domains

Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199
AA Change: A136D

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

noncoding transcript
Transcript: ENSMUST00000195292

Predicted Effect

probably benign
Transcript: ENSMUST00000195103

Meta Mutation Damage Score

0.9277

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (114/115)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Abcb1b	T	A	5: 8,875,661 (GRCm39)	H611Q	probably damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Adgre1	T	A	17: 57,709,841 (GRCm39)	L166*	probably null	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Akna	T	A	4: 63,312,872 (GRCm39)	Q417L	probably damaging	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef10	A	C	8: 15,004,446 (GRCm39)	R360S	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Arid3a	A	G	10: 79,766,899 (GRCm39)	T58A	possibly damaging	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap36	A	T	11: 29,196,514 (GRCm39)		probably null	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Chadl	T	C	15: 81,578,213 (GRCm39)	D6G	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Crtc1	A	G	8: 70,844,509 (GRCm39)		probably null	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Dst	A	T	1: 34,314,862 (GRCm39)	N4267Y	probably damaging	Het
Duox2	T	A	2: 122,127,167 (GRCm39)	D170V	possibly damaging	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
Elf1	T	C	14: 79,802,965 (GRCm39)	L106P	probably damaging	Het
Exoc4	G	C	6: 33,273,857 (GRCm39)		probably null	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gga3	C	A	11: 115,477,915 (GRCm39)	G558*	probably null	Het
Glt1d1	T	C	5: 127,740,391 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Hcn4	T	C	9: 58,767,582 (GRCm39)	S1048P	probably damaging	Het
Henmt1	T	A	3: 108,861,105 (GRCm39)		probably benign	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Myh3	C	T	11: 66,990,498 (GRCm39)	R1677C	probably damaging	Het
Mynn	T	A	3: 30,661,230 (GRCm39)	*61K	probably null	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Oas1e	C	A	5: 120,933,395 (GRCm39)	A57S	probably benign	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Or14j10	T	A	17: 37,935,024 (GRCm39)	R167S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pnp2	T	A	14: 51,196,990 (GRCm39)	Y25*	probably null	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Ppp1r12a	A	G	10: 108,089,193 (GRCm39)	N611D	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Prl6a1	A	T	13: 27,501,980 (GRCm39)	I116F	probably damaging	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Satb1	T	A	17: 52,047,374 (GRCm39)	Q647L	probably benign	Het
Sec31b	T	C	19: 44,508,847 (GRCm39)		probably benign	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
Smchd1	T	C	17: 71,738,231 (GRCm39)	I545V	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Tdrd5	A	T	1: 156,129,473 (GRCm39)	I79N	probably damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Tnxb	T	A	17: 34,928,542 (GRCm39)	V2652E	possibly damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Ubtd2	A	C	11: 32,449,223 (GRCm39)		probably null	Het
Ubtd2	G	T	11: 32,449,224 (GRCm39)		probably null	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Vwa8	T	A	14: 79,331,179 (GRCm39)	M1229K	probably benign	Het
Wdr76	C	T	2: 121,349,932 (GRCm39)	R111C	probably damaging	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ggcttGCATGAGCAGGAGGAGA -3'
(R):5'- ggcaataaaacagtgaccaagacaAAGATAC -3'

Sequencing Primer
(F):5'- ACCTGCATAGAGATTCGCTG -3'
(R):5'- gaccaagacaAAGATACACATTTTCC -3'

Posted On

2013-05-23