Mutagenetix > Incidental Mutation

Incidental Mutation 'R5321:Cryzl1'

406124

Institutional Source

Beutler Lab

Gene Symbol

Cryzl1

Ensembl Gene

ENSMUSG00000058240

Gene Name

crystallin zeta like 1

Synonyms

2210407J23Rik, 2410006O11Rik

MMRRC Submission

042904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5321 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91486210-91525690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91504118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 109 (Y109C)

Ref Sequence

ENSEMBL: ENSMUSP00000109656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073466] [ENSMUST00000114023] [ENSMUST00000117644] [ENSMUST00000122254] [ENSMUST00000124282] [ENSMUST00000159295] [ENSMUST00000231499]

AlphaFold

Q921W4

Predicted Effect

probably benign
Transcript: ENSMUST00000073466
AA Change: Y109C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000073171
Gene: ENSMUSG00000058240
AA Change: Y109C

Domain	Start	End	E-Value	Type
Pfam:ADH_N	30	142	3.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114023
AA Change: Y109C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109656
Gene: ENSMUSG00000058240
AA Change: Y109C

Domain	Start	End	E-Value	Type
Pfam:ADH_N	30	140	2e-8	PFAM
Pfam:ADH_zinc_N	156	231	5.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117644
AA Change: Y94C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113227
Gene: ENSMUSG00000058240
AA Change: Y94C

Domain	Start	End	E-Value	Type
Pfam:ADH_zinc_N	141	212	1.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122254

SMART Domains

Protein: ENSMUSP00000112734
Gene: ENSMUSG00000058240

Domain	Start	End	E-Value	Type
Blast:PKS_ER	71	150	1e-9	BLAST
SCOP:d1heta1	73	137	4e-12	SMART
low complexity region	172	190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124282
AA Change: Y109C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000115686
Gene: ENSMUSG00000058240
AA Change: Y109C

Domain	Start	End	E-Value	Type
Pfam:ADH_N	30	150	1.7e-8	PFAM
Pfam:ADH_zinc_N	156	227	3.9e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000141664
AA Change: Y125C

Predicted Effect

unknown
Transcript: ENSMUST00000144472
AA Change: Y36C

SMART Domains

Protein: ENSMUSP00000116833
Gene: ENSMUSG00000058240
AA Change: Y36C

Domain	Start	End	E-Value	Type
Blast:PKS_ER	2	152	8e-13	BLAST
PDB:3SLK\|B	2	152	3e-10	PDB
SCOP:d1heta1	24	103	1e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156242

Predicted Effect

probably benign
Transcript: ENSMUST00000159295

SMART Domains

Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933

Domain	Start	End	E-Value	Type
Pfam:OSCP	1	89	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231499
AA Change: Y83C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232491

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,218,651 (GRCm39)	F72L	probably benign	Het
Btrc	G	A	19: 45,496,197 (GRCm39)	V211M	probably damaging	Het
Col6a5	A	T	9: 105,805,664 (GRCm39)	Y1081N	unknown	Het
Dlec1	T	A	9: 118,941,669 (GRCm39)	S352T	probably benign	Het
Dzip3	T	G	16: 48,778,038 (GRCm39)	T349P	possibly damaging	Het
Endou	A	G	15: 97,618,913 (GRCm39)	V37A	probably damaging	Het
Exosc1	A	T	19: 41,912,499 (GRCm39)	C129*	probably null	Het
Flywch1	C	G	17: 23,975,625 (GRCm39)	R539P	probably damaging	Het
Gm14410	G	A	2: 176,885,298 (GRCm39)	T322I	probably damaging	Het
Lcor	G	T	19: 41,573,643 (GRCm39)	W799C	probably damaging	Het
Lpin2	G	A	17: 71,553,853 (GRCm39)	V857M	probably damaging	Het
Or52ae9	T	C	7: 103,389,862 (GRCm39)	N195S	probably damaging	Het
Patl1	A	G	19: 11,898,785 (GRCm39)	Q160R	probably damaging	Het
Phtf1	C	T	3: 103,910,827 (GRCm39)	T606I	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Scrt1	T	C	15: 76,403,370 (GRCm39)	S207G	unknown	Het
Slc15a5	G	T	6: 137,964,436 (GRCm39)	N496K	probably benign	Het
Slc34a1	A	T	13: 23,996,614 (GRCm39)	I40F	possibly damaging	Het
Tdrd12	A	C	7: 35,177,519 (GRCm39)	V945G	probably damaging	Het
Tdrkh	C	A	3: 94,332,965 (GRCm39)	L169I	probably damaging	Het
Tmem59l	A	G	8: 70,939,865 (GRCm39)	C35R	probably damaging	Het
Tpte	A	T	8: 22,787,219 (GRCm39)	R33*	probably null	Het
Trpv2	T	A	11: 62,475,397 (GRCm39)	L270H	probably damaging	Het
Utp18	A	G	11: 93,757,260 (GRCm39)	L468P	probably damaging	Het
Uxs1	A	G	1: 43,844,805 (GRCm39)	I51T	probably damaging	Het
Vmn1r20	C	T	6: 57,409,427 (GRCm39)	S251L	probably benign	Het
Vmn1r24	A	T	6: 57,933,182 (GRCm39)	L112*	probably null	Het
Vmn1r5	T	C	6: 56,962,592 (GRCm39)	L89P	probably damaging	Het
Vmn2r10	G	T	5: 109,143,505 (GRCm39)	A815E	probably damaging	Het
Zfp119a	A	T	17: 56,172,595 (GRCm39)	L416H	probably damaging	Het

Other mutations in Cryzl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02139:Cryzl1	APN	16	91,509,139 (GRCm39)	missense	possibly damaging	0.90
IGL02937:Cryzl1	APN	16	91,487,619 (GRCm39)	missense	possibly damaging	0.62
R0360:Cryzl1	UTSW	16	91,504,155 (GRCm39)	missense	probably benign	0.00
R0364:Cryzl1	UTSW	16	91,504,155 (GRCm39)	missense	probably benign	0.00
R0513:Cryzl1	UTSW	16	91,496,175 (GRCm39)	missense	possibly damaging	0.87
R0630:Cryzl1	UTSW	16	91,504,107 (GRCm39)	splice site	probably benign
R1355:Cryzl1	UTSW	16	91,489,546 (GRCm39)	missense	possibly damaging	0.48
R1370:Cryzl1	UTSW	16	91,489,546 (GRCm39)	missense	possibly damaging	0.48
R1709:Cryzl1	UTSW	16	91,509,124 (GRCm39)	missense	probably damaging	0.99
R2284:Cryzl1	UTSW	16	91,491,193 (GRCm39)	unclassified	probably benign
R5768:Cryzl1	UTSW	16	91,492,242 (GRCm39)	missense	probably damaging	1.00
R6468:Cryzl1	UTSW	16	91,489,413 (GRCm39)	splice site	probably null
R7372:Cryzl1	UTSW	16	91,509,085 (GRCm39)	missense	probably benign	0.24
R8319:Cryzl1	UTSW	16	91,489,251 (GRCm39)	missense	probably benign
R8481:Cryzl1	UTSW	16	91,504,161 (GRCm39)	nonsense	probably null
R8830:Cryzl1	UTSW	16	91,509,092 (GRCm39)	missense	probably benign	0.39
R8886:Cryzl1	UTSW	16	91,492,188 (GRCm39)	missense	possibly damaging	0.88
R9684:Cryzl1	UTSW	16	91,487,634 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGAAAGATTCTACAGCCATGAGC -3'
(R):5'- AGGGTTCTGTTCAGGGCATAC -3'

Sequencing Primer
(F):5'- GAGCAATGTTAGTAAATCTCACAGG -3'
(R):5'- AGGTCTGCTGCATGACATC -3'

Posted On

2016-07-22