Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02749:Cryl1'

306219

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cryl1

Ensembl Gene

ENSMUSG00000021947

Gene Name

crystallin, lambda 1

Synonyms

1110025H08Rik, A230106J09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

IGL02749

Quality Score

Status

Chromosome

Chromosomal Location

57512491-57635940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57541181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 168 (T168A)

Ref Sequence

ENSEMBL: ENSMUSP00000022517 (fasta)

Gene Model

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

AlphaFold

Q99KP3

Predicted Effect

probably benign
Transcript: ENSMUST00000022517
AA Change: T168A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022517
Gene: ENSMUSG00000021947
AA Change: T168A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224292

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104M06Rik	T	C	12: 112,963,795 (GRCm39)	D61G	probably benign	Het
Albfm1	T	C	5: 90,719,624 (GRCm39)	V240A	possibly damaging	Het
Ascc2	G	A	11: 4,590,481 (GRCm39)		probably null	Het
Atrn	C	T	2: 130,812,064 (GRCm39)	Q670*	probably null	Het
Atrn	G	T	2: 130,789,654 (GRCm39)		probably benign	Het
Calr	A	C	8: 85,571,117 (GRCm39)	W236G	probably damaging	Het
Camk2g	T	A	14: 20,816,084 (GRCm39)		probably null	Het
Cd101	G	T	3: 100,927,715 (GRCm39)	T122K	probably damaging	Het
Cert1	T	A	13: 96,765,643 (GRCm39)	N469K	possibly damaging	Het
Diaph3	A	G	14: 87,156,261 (GRCm39)	I684T	probably damaging	Het
Ednrb	A	T	14: 104,060,495 (GRCm39)	M266K	possibly damaging	Het
Eif4h	T	C	5: 134,668,146 (GRCm39)	D3G	probably damaging	Het
Eny2	C	T	15: 44,293,031 (GRCm39)	R28C	possibly damaging	Het
Epsti1	A	G	14: 78,177,363 (GRCm39)	E181G	probably damaging	Het
Ezh2	A	G	6: 47,510,698 (GRCm39)	F598S	probably damaging	Het
Fat3	G	T	9: 15,918,007 (GRCm39)	T1472K	possibly damaging	Het
Gabra4	T	A	5: 71,795,490 (GRCm39)	I262F	probably benign	Het
Gpat4	A	T	8: 23,670,886 (GRCm39)	Y109N	probably damaging	Het
Gpsm1	C	T	2: 26,229,687 (GRCm39)	T36I	probably damaging	Het
Hikeshi	C	T	7: 89,585,097 (GRCm39)	V36I	possibly damaging	Het
Hip1	T	C	5: 135,473,605 (GRCm39)	M238V	probably benign	Het
Hnrnpll	A	T	17: 80,369,420 (GRCm39)	M1K	probably null	Het
Irx2	G	A	13: 72,779,429 (GRCm39)	D238N	probably damaging	Het
Kcnip4	T	A	5: 48,567,127 (GRCm39)		probably benign	Het
Lair1	G	A	7: 4,031,900 (GRCm39)	T69I	possibly damaging	Het
Lamc1	A	G	1: 153,125,599 (GRCm39)	I558T	possibly damaging	Het
Map4k5	C	T	12: 69,862,580 (GRCm39)	E639K	probably benign	Het
Mc4r	A	G	18: 66,992,733 (GRCm39)	S127P	probably damaging	Het
Mmp23	A	G	4: 155,735,989 (GRCm39)	M221T	possibly damaging	Het
Mre11a	T	C	9: 14,737,887 (GRCm39)	S587P	possibly damaging	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Nek9	C	A	12: 85,352,281 (GRCm39)	A861S	probably benign	Het
Nup155	T	A	15: 8,163,560 (GRCm39)	Y576N	probably damaging	Het
Or5w10	C	T	2: 87,375,001 (GRCm39)	V296M	probably damaging	Het
Pcca	A	T	14: 122,771,800 (GRCm39)	T8S	probably benign	Het
Pcdh15	A	G	10: 74,466,900 (GRCm39)	D1573G	probably benign	Het
Pdpr	T	A	8: 111,844,722 (GRCm39)	V373E	probably benign	Het
Pdzph1	A	T	17: 59,239,478 (GRCm39)	L950Q	possibly damaging	Het
Pira13	A	G	7: 3,825,624 (GRCm39)	I415T	probably damaging	Het
Prss35	A	C	9: 86,638,297 (GRCm39)	K356Q	probably damaging	Het
Psg22	A	T	7: 18,456,944 (GRCm39)	T237S	possibly damaging	Het
Rdh13	A	G	7: 4,430,703 (GRCm39)	Y252H	probably damaging	Het
Sema3d	T	C	5: 12,613,112 (GRCm39)		probably benign	Het
Slc35b2	G	A	17: 45,877,493 (GRCm39)	V207I	probably benign	Het
Sparcl1	T	G	5: 104,240,746 (GRCm39)	E226A	possibly damaging	Het
Srms	C	A	2: 180,851,302 (GRCm39)	A155S	possibly damaging	Het
Tas2r107	A	T	6: 131,636,917 (GRCm39)	I44N	probably damaging	Het
Tmem236	C	T	2: 14,224,132 (GRCm39)	T307M	probably damaging	Het
Ush2a	C	T	1: 188,679,155 (GRCm39)	P4788S	probably damaging	Het
Vmn1r170	A	T	7: 23,305,716 (GRCm39)	L39F	probably benign	Het
Vmn2r90	T	A	17: 17,947,122 (GRCm39)	*121R	probably null	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
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
R7653:Cryl1	UTSW	14	57,541,148 (GRCm39)	missense	probably benign	0.01
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

Posted On

2015-04-16