Mutagenetix > Incidental Mutation

Incidental Mutation 'R7653:Cryl1'

580505

Institutional Source

Beutler Lab

Gene Symbol

Cryl1

Ensembl Gene

ENSMUSG00000021947

Gene Name

crystallin, lambda 1

Synonyms

1110025H08Rik, A230106J09Rik

MMRRC Submission

045730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R7653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57512491-57635940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57541148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 179 (I179V)

Ref Sequence

ENSEMBL: ENSMUSP00000022517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022517]

AlphaFold

Q99KP3

Predicted Effect

probably benign
Transcript: ENSMUST00000022517
AA Change: I179V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000022517
Gene: ENSMUSG00000021947
AA Change: I179V

Domain	Start	End	E-Value	Type
Pfam:3HCDH_N	8	190	3.4e-53	PFAM
Pfam:3HCDH	192	282	8.9e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	T	6: 92,805,050 (GRCm39)	Q70L	unknown	Het
Adamts12	T	A	15: 11,257,115 (GRCm39)	N489K	probably benign	Het
Alms1	A	G	6: 85,597,577 (GRCm39)	D801G	possibly damaging	Het
Apex1	T	G	14: 51,163,995 (GRCm39)	N173K	probably damaging	Het
Arhgap32	A	T	9: 32,168,441 (GRCm39)	N808I	probably benign	Het
Arhgef28	T	C	13: 98,105,821 (GRCm39)	Y706C	probably benign	Het
Atg2b	A	T	12: 105,602,731 (GRCm39)	F1604Y	possibly damaging	Het
Atm	A	T	9: 53,401,602 (GRCm39)	Y1422*	probably null	Het
Bace2	T	A	16: 97,237,852 (GRCm39)	V38E		Het
Birc6	C	A	17: 74,954,729 (GRCm39)	L3442I	possibly damaging	Het
C6	T	A	15: 4,844,244 (GRCm39)	S889T		Het
Calcrl	A	T	2: 84,175,529 (GRCm39)	L275*	probably null	Het
Casp6	T	C	3: 129,705,872 (GRCm39)	Y180H	probably benign	Het
Cd5	T	C	19: 10,703,910 (GRCm39)	M51V	probably benign	Het
Cdhr1	G	T	14: 36,804,158 (GRCm39)	P500Q	probably benign	Het
Celsr3	G	A	9: 108,712,269 (GRCm39)	W1732*	probably null	Het
Ces2g	T	C	8: 105,689,285 (GRCm39)	V87A	probably damaging	Het
Chil6	T	C	3: 106,301,641 (GRCm39)	N153S	possibly damaging	Het
Chrna5	A	T	9: 54,909,718 (GRCm39)	D113V	probably benign	Het
Cimip2b	T	G	4: 43,427,273 (GRCm39)		probably null	Het
Cox20	A	G	1: 178,150,164 (GRCm39)	T113A	probably benign	Het
Dennd3	A	G	15: 73,434,275 (GRCm39)	T982A	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Dync2h1	A	G	9: 7,117,570 (GRCm39)	S2240P	probably benign	Het
Eif1ad14	T	A	12: 87,886,248 (GRCm39)	D127V	unknown	Het
Fbxl5	C	T	5: 43,916,116 (GRCm39)	S432N	probably benign	Het
Fez1	T	A	9: 36,772,146 (GRCm39)	S150R	probably benign	Het
Gabrb2	T	G	11: 42,378,039 (GRCm39)	M85R	probably damaging	Het
Lhx4	A	G	1: 155,580,617 (GRCm39)	V203A	probably damaging	Het
Med23	G	A	10: 24,780,282 (GRCm39)	D977N	probably damaging	Het
Mplkip	T	C	13: 17,870,367 (GRCm39)	F100L	probably damaging	Het
Ncoa7	C	T	10: 30,570,239 (GRCm39)	G240E	probably damaging	Het
Nedd4	A	G	9: 72,650,910 (GRCm39)	E827G	probably damaging	Het
Nfatc2	A	G	2: 168,413,065 (GRCm39)	F207L	probably benign	Het
Nr2f1	A	T	13: 78,343,716 (GRCm39)	S183T	probably benign	Het
Ocel1	A	G	8: 71,824,560 (GRCm39)	E81G	probably benign	Het
Or10aa3	T	C	1: 173,878,488 (GRCm39)	V183A	probably benign	Het
Or10g3b	C	A	14: 52,586,889 (GRCm39)	G205*	probably null	Het
Or4n4b	C	T	14: 50,536,604 (GRCm39)	G54E	possibly damaging	Het
Pcdh8	G	A	14: 80,005,086 (GRCm39)	P980S	probably benign	Het
Pex26	A	T	6: 121,170,510 (GRCm39)	Q285L	possibly damaging	Het
Pgap6	T	A	17: 26,339,423 (GRCm39)	M579K	probably damaging	Het
Plce1	A	T	19: 38,737,763 (GRCm39)	N1603I	probably benign	Het
Poli	A	T	18: 70,642,698 (GRCm39)	C501S	probably benign	Het
Ppp4r4	C	T	12: 103,550,404 (GRCm39)	T276I	probably damaging	Het
Rbpj	T	A	5: 53,747,693 (GRCm39)	M1K	probably null	Het
Recql4	T	A	15: 76,587,982 (GRCm39)	M1204L	probably benign	Het
Ribc2	T	C	15: 85,025,876 (GRCm39)	I284T	probably benign	Het
Rreb1	C	A	13: 38,114,362 (GRCm39)	Q574K	probably benign	Het
Scn9a	A	T	2: 66,357,424 (GRCm39)	L959Q	probably damaging	Het
Shank1	C	A	7: 43,969,093 (GRCm39)	H329Q	unknown	Het
Soat2	A	T	15: 102,071,013 (GRCm39)	D469V	probably damaging	Het
Spag7	T	A	11: 70,555,691 (GRCm39)	H82L	probably damaging	Het
Sptb	T	C	12: 76,675,271 (GRCm39)	I248V	probably benign	Het
Tacr3	A	G	3: 134,566,843 (GRCm39)	I239V	probably benign	Het
Tbc1d1	T	C	5: 64,414,133 (GRCm39)	F165L	probably benign	Het
Tchhl1	A	G	3: 93,378,451 (GRCm39)	E385G	probably benign	Het
Tecta	C	T	9: 42,248,532 (GRCm39)	D1957N	probably damaging	Het
Tenm2	T	C	11: 35,938,174 (GRCm39)	I1501V	probably benign	Het
Tet2	G	T	3: 133,192,146 (GRCm39)	Q763K	probably benign	Het
Timd6	A	C	11: 46,475,200 (GRCm39)	S132R	probably benign	Het
Tox3	G	A	8: 90,975,617 (GRCm39)	T338I	probably damaging	Het
Usp30	G	A	5: 114,259,730 (GRCm39)	D479N	probably damaging	Het
Vmn1r27	T	C	6: 58,192,785 (GRCm39)	D73G	possibly damaging	Het
Vmn1r27	A	T	6: 58,192,879 (GRCm39)	S42T	probably benign	Het
Vmn2r120	A	T	17: 57,816,258 (GRCm39)	V699D	possibly damaging	Het
Vwa2	A	T	19: 56,897,767 (GRCm39)	T691S	probably benign	Het
Wdr31	T	A	4: 62,381,666 (GRCm39)	Q55L	probably benign	Het
Xdh	A	G	17: 74,204,040 (GRCm39)	F1107L	probably benign	Het
Zfp184	A	G	13: 22,143,887 (GRCm39)	H531R	probably damaging	Het
Zfp366	T	C	13: 99,365,709 (GRCm39)	L290P	probably damaging	Het

Other mutations in Cryl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Cryl1	APN	14	57,523,821 (GRCm39)	critical splice donor site	probably null
IGL02117:Cryl1	APN	14	57,523,904 (GRCm39)	missense	probably damaging	1.00
IGL02556:Cryl1	APN	14	57,513,478 (GRCm39)	missense	probably benign	0.00
IGL02749:Cryl1	APN	14	57,541,181 (GRCm39)	missense	probably benign	0.03
IGL03108:Cryl1	APN	14	57,550,534 (GRCm39)	missense	probably damaging	1.00
G5030:Cryl1	UTSW	14	57,579,595 (GRCm39)	intron	probably benign
R0391:Cryl1	UTSW	14	57,541,232 (GRCm39)	missense	possibly damaging	0.94
R2087:Cryl1	UTSW	14	57,513,402 (GRCm39)	missense	possibly damaging	0.84
R2155:Cryl1	UTSW	14	57,635,880 (GRCm39)	missense	unknown
R2263:Cryl1	UTSW	14	57,523,865 (GRCm39)	nonsense	probably null
R2913:Cryl1	UTSW	14	57,513,375 (GRCm39)	missense	probably benign	0.19
R2914:Cryl1	UTSW	14	57,513,375 (GRCm39)	missense	probably benign	0.19
R4747:Cryl1	UTSW	14	57,550,559 (GRCm39)	missense	probably damaging	1.00
R5482:Cryl1	UTSW	14	57,550,469 (GRCm39)	missense	probably damaging	0.99
R5977:Cryl1	UTSW	14	57,620,236 (GRCm39)	missense	probably benign	0.02
R6792:Cryl1	UTSW	14	57,620,224 (GRCm39)	missense	probably damaging	0.97
R7134:Cryl1	UTSW	14	57,512,956 (GRCm39)	missense	probably benign
R7409:Cryl1	UTSW	14	57,523,842 (GRCm39)	missense	probably damaging	1.00
R7522:Cryl1	UTSW	14	57,513,428 (GRCm39)	missense	probably benign
R7711:Cryl1	UTSW	14	57,513,013 (GRCm39)	missense	probably benign	0.01
R7785:Cryl1	UTSW	14	57,512,938 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AGTGACTCTTGCCCTACTCAG -3'
(R):5'- GTGAGCCAGAACAACACCTG -3'

Sequencing Primer
(F):5'- TACTCAGCCGTGGAGGTGAG -3'
(R):5'- AACAACACCTGGCTGTTGG -3'

Posted On

2019-10-07