Mutagenetix > Incidental Mutation

Incidental Mutation 'R5482:Cryl1'

434404

Institutional Source

Beutler Lab

Gene Symbol

Cryl1

Ensembl Gene

ENSMUSG00000021947

Gene Name

crystallin, lambda 1

Synonyms

1110025H08Rik, A230106J09Rik

MMRRC Submission

043043-MU

Accession Numbers

Essential gene?

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

Stock #

R5482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57512491-57635940 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57550469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 132 (F132I)

Ref Sequence

ENSEMBL: ENSMUSP00000022517 (fasta)

Gene Model

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

AlphaFold

Q99KP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022517
AA Change: F132I

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

SMART Domains

Protein: ENSMUSP00000022517
Gene: ENSMUSG00000021947
AA Change: F132I

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

Meta Mutation Damage Score

0.3421

Coding Region Coverage

1x: 98.9%
3x: 97.4%
10x: 94.5%
20x: 87.6%

Validation Efficiency

99% (68/69)

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
9230109A22Rik	T	C	15: 25,139,036 (GRCm39)		noncoding transcript	Het
Abca15	T	C	7: 119,968,370 (GRCm39)	L801P	probably damaging	Het
Acap3	A	G	4: 155,984,613 (GRCm39)	D212G	probably benign	Het
Acsl6	G	A	11: 54,217,964 (GRCm39)	D166N	probably damaging	Het
Acy1	T	C	9: 106,311,838 (GRCm39)		probably benign	Het
Adgrl3	A	G	5: 81,942,360 (GRCm39)	N1368S	probably damaging	Het
Akap5	T	C	12: 76,375,600 (GRCm39)	I344T	probably benign	Het
Aplp1	A	G	7: 30,139,600 (GRCm39)	F399S	probably damaging	Het
Arap3	A	G	18: 38,107,727 (GRCm39)	S1302P	possibly damaging	Het
Bik	T	G	15: 83,428,335 (GRCm39)	V121G	probably damaging	Het
Birc6	A	T	17: 74,948,777 (GRCm39)	M3069L	possibly damaging	Het
Birc6	A	G	17: 74,969,685 (GRCm39)	T4237A	probably damaging	Het
Btn2a2	T	C	13: 23,670,557 (GRCm39)	N59D	probably benign	Het
Cabyr	A	G	18: 12,884,496 (GRCm39)	S328G	possibly damaging	Het
Cfap57	C	T	4: 118,426,838 (GRCm39)	G1067R	probably benign	Het
Dipk1a	C	G	5: 108,057,529 (GRCm39)	C343S	probably damaging	Het
Dnah8	G	A	17: 31,019,521 (GRCm39)	E3865K	probably damaging	Het
Dock3	G	A	9: 106,855,937 (GRCm39)	R741*	probably null	Het
Fsip2	C	T	2: 82,815,654 (GRCm39)	L3796F	possibly damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm5535	C	A	2: 144,016,492 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,695,055 (GRCm39)	M202K	probably damaging	Het
Hecw2	T	A	1: 53,965,360 (GRCm39)	M489L	probably benign	Het
Lrrk1	A	G	7: 65,980,418 (GRCm39)	I254T	probably benign	Het
Lrrn3	A	C	12: 41,502,387 (GRCm39)	C643W	probably damaging	Het
Lrrn3	G	A	12: 41,502,386 (GRCm39)	L644F	probably benign	Het
Nr2f6	A	T	8: 71,827,182 (GRCm39)	I373N	probably damaging	Het
Nt5dc3	A	G	10: 86,647,395 (GRCm39)	Y130C	probably damaging	Het
Or5b12	T	C	19: 12,897,269 (GRCm39)	T135A	probably damaging	Het
Or6c3	T	C	10: 129,308,947 (GRCm39)	Y129H	probably benign	Het
Otogl	T	A	10: 107,657,802 (GRCm39)	I1043F	probably damaging	Het
Padi3	G	A	4: 140,523,154 (GRCm39)	T302I	probably damaging	Het
Pcdhgb5	A	G	18: 37,864,585 (GRCm39)	N127D	probably damaging	Het
Pign	A	G	1: 105,474,435 (GRCm39)	F876L	probably benign	Het
Pip5k1c	A	G	10: 81,128,897 (GRCm39)	E2G	probably damaging	Het
Ppp1r18	G	A	17: 36,184,771 (GRCm39)	E141K	probably damaging	Het
Ralbp1	A	C	17: 66,168,563 (GRCm39)	Y247*	probably null	Het
Ripply2	A	G	9: 86,897,620 (GRCm39)	E8G	possibly damaging	Het
Rufy3	TAAGCA	TA	5: 88,785,191 (GRCm39)		probably null	Het
Skint2	T	G	4: 112,483,076 (GRCm39)	C160W	probably damaging	Het
Sun2	C	T	15: 79,621,712 (GRCm39)	R172Q	probably benign	Het
Syna	A	G	5: 134,588,028 (GRCm39)	L307P	possibly damaging	Het
Tlcd3b	A	G	7: 126,426,660 (GRCm39)	T78A	possibly damaging	Het
Trappc12	T	C	12: 28,741,324 (GRCm39)	K795R	probably damaging	Het
Trmt9b	A	T	8: 36,979,203 (GRCm39)	M269L	probably benign	Het
Ttll11	A	G	2: 35,642,418 (GRCm39)	S638P	probably damaging	Het
Usp2	G	A	9: 44,000,480 (GRCm39)		probably null	Het
Vmn2r26	A	T	6: 124,038,285 (GRCm39)	E620V	possibly damaging	Het
Wdr36	A	T	18: 32,974,957 (GRCm39)	H103L	probably benign	Het
Wnt5b	T	C	6: 119,423,392 (GRCm39)	T78A	probably benign	Het
Zc2hc1b	C	T	10: 13,029,270 (GRCm39)	R146Q	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGATATGATCAGGTGCCAAAC -3'
(R):5'- GGGTCCCTAGATCTACCATTTC -3'

Sequencing Primer
(F):5'- GATATGATCAGGTGCCAAACTTCCC -3'
(R):5'- GGTTCATTTTAGGAACAAAGCCAAC -3'

Posted On

2016-10-06