Mutagenetix > Incidental Mutation

Incidental Mutation 'R4486:Hyi'

331604

Institutional Source

Beutler Lab

Gene Symbol

Hyi

Ensembl Gene

ENSMUSG00000006395

Gene Name

hydroxypyruvate isomerase (putative)

Synonyms

2700033B16Rik, 6430559E15Rik

MMRRC Submission

041742-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R4486 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118217196-118219941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118219674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 237 (G237D)

Ref Sequence

ENSEMBL: ENSMUSP00000006562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006562] [ENSMUST00000075406] [ENSMUST00000106393] [ENSMUST00000194248]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000006562
AA Change: G237D

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

SMART Domains

Protein: ENSMUSP00000006562
Gene: ENSMUSG00000006395
AA Change: G237D

Domain	Start	End	E-Value	Type
Pfam:AP_endonuc_2	24	221	4.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075406

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
Blast:VWA	93	343	1e-109	BLAST
low complexity region	704	728	N/A	INTRINSIC
low complexity region	762	775	N/A	INTRINSIC
low complexity region	779	793	N/A	INTRINSIC
low complexity region	875	887	N/A	INTRINSIC
low complexity region	994	1011	N/A	INTRINSIC
low complexity region	1351	1370	N/A	INTRINSIC
low complexity region	1619	1630	N/A	INTRINSIC
low complexity region	1662	1678	N/A	INTRINSIC
low complexity region	1832	1854	N/A	INTRINSIC
low complexity region	1862	1881	N/A	INTRINSIC
low complexity region	1895	1914	N/A	INTRINSIC
low complexity region	2176	2184	N/A	INTRINSIC
low complexity region	2284	2292	N/A	INTRINSIC
low complexity region	2309	2323	N/A	INTRINSIC
low complexity region	2373	2384	N/A	INTRINSIC
low complexity region	2500	2508	N/A	INTRINSIC
low complexity region	2669	2680	N/A	INTRINSIC
low complexity region	2739	2758	N/A	INTRINSIC
low complexity region	3239	3252	N/A	INTRINSIC
low complexity region	3257	3268	N/A	INTRINSIC
low complexity region	3283	3309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106393

SMART Domains

Protein: ENSMUSP00000102001
Gene: ENSMUSG00000006395

Domain	Start	End	E-Value	Type
SCOP:d1k77a_	4	67	4e-10	SMART
PDB:1K77\|A	5	69	5e-7	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179719

Predicted Effect

probably benign
Transcript: ENSMUST00000183402

Predicted Effect

unknown
Transcript: ENSMUST00000194248
AA Change: V238I

SMART Domains

Protein: ENSMUSP00000141952
Gene: ENSMUSG00000006395
AA Change: V238I

Domain	Start	End	E-Value	Type
SCOP:d1k77a_	4	77	3e-10	SMART
PDB:1K77\|A	5	76	6e-8	PDB
low complexity region	246	260	N/A	INTRINSIC

Meta Mutation Damage Score

0.6764

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,062,486 (GRCm39)	V484A	probably damaging	Het
Adam22	A	T	5: 8,230,227 (GRCm39)		probably benign	Het
Adamts18	G	T	8: 114,439,825 (GRCm39)	P923T	probably benign	Het
Ank3	C	T	10: 69,837,804 (GRCm39)	T1604I	possibly damaging	Het
Armc10	A	G	5: 21,858,432 (GRCm39)	Q159R	probably damaging	Het
Arnt2	T	A	7: 83,924,553 (GRCm39)	T425S	probably benign	Het
B4galt3	A	G	1: 171,099,343 (GRCm39)	T36A	possibly damaging	Het
Bbx	A	G	16: 50,020,777 (GRCm39)	V799A	probably damaging	Het
Bud23	T	C	5: 135,092,779 (GRCm39)		probably null	Het
Cnga2	T	A	X: 71,049,733 (GRCm39)	F133I	possibly damaging	Het
Crispld1	A	G	1: 17,823,102 (GRCm39)	T390A	probably benign	Het
Cyp4f39	T	A	17: 32,702,428 (GRCm39)	D308E	probably damaging	Het
Dnah6	A	G	6: 73,015,729 (GRCm39)	V3584A	probably damaging	Het
Ecpas	A	G	4: 58,820,086 (GRCm39)		probably benign	Het
Frk	T	C	10: 34,484,377 (GRCm39)	I450T	probably benign	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hao2	T	A	3: 98,789,341 (GRCm39)	I116F	probably damaging	Het
Jrkl	T	C	9: 13,245,376 (GRCm39)	N95S	probably benign	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Nanog	T	C	6: 122,689,676 (GRCm39)		probably null	Het
Ngf	G	A	3: 102,428,015 (GRCm39)	D255N	probably damaging	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Or6c76b	T	C	10: 129,692,567 (GRCm39)	F60S	probably damaging	Het
Pcdha3	T	C	18: 37,080,404 (GRCm39)	V382A	probably damaging	Het
Pla2g4c	T	A	7: 13,071,676 (GRCm39)	N165K	probably benign	Het
Rexo5	T	C	7: 119,424,800 (GRCm39)	I362T	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rpusd2	T	C	2: 118,865,705 (GRCm39)	V134A	probably damaging	Het
Serpina1c	T	A	12: 103,863,259 (GRCm39)		probably null	Het
Slc6a19	A	T	13: 73,829,836 (GRCm39)	I606N	probably damaging	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Tas2r143	A	G	6: 42,377,628 (GRCm39)	M153V	probably benign	Het
Thrb	G	T	14: 17,925,640 (GRCm38)	M1I	probably null	Het
Trbc2	A	G	6: 41,523,814 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,087,651 (GRCm39)	S587R	probably benign	Het
Ulbp1	T	A	10: 7,397,397 (GRCm39)	H151L	probably benign	Het
Vmn2r54	A	T	7: 12,366,199 (GRCm39)	L245*	probably null	Het
Vmn2r78	A	C	7: 86,569,959 (GRCm39)		probably null	Het
Xlr5b	T	C	X: 72,201,504 (GRCm39)		probably null	Het
Xrcc4	A	C	13: 90,140,707 (GRCm39)	S167R	possibly damaging	Het
Zfp994	C	T	17: 22,420,541 (GRCm39)	C136Y	probably damaging	Het

Other mutations in Hyi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02390:Hyi	APN	4	118,219,810 (GRCm39)	missense	probably benign	0.00
IGL02516:Hyi	APN	4	118,219,680 (GRCm39)	missense	probably damaging	1.00
R0884:Hyi	UTSW	4	118,217,414 (GRCm39)	missense	probably damaging	1.00
R2173:Hyi	UTSW	4	118,219,381 (GRCm39)	splice site	probably benign
R2359:Hyi	UTSW	4	118,217,538 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACATCAGGGAGTTTCTGCCC -3'
(R):5'- TGCAGAACCTTACTGGCCAG -3'

Sequencing Primer
(F):5'- AGGGAGTTTCTGCCCACTGTC -3'
(R):5'- AACCTTACTGGCCAGTCCGTG -3'

Posted On

2015-07-21