Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00093:Cyhr1'

907

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyhr1

Ensembl Gene

ENSMUSG00000053929

Gene Name

cysteine and histidine rich 1

Synonyms

1110031M01Rik, Chrp

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

IGL00093

Quality Score

Status

Chromosome

Chromosomal Location

76643395-76660117 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76646538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 194 (I194T)

Ref Sequence

ENSEMBL: ENSMUSP00000080043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081291] [ENSMUST00000176274] [ENSMUST00000229524]

AlphaFold

Q9QXA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000081291
AA Change: I194T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: I194T

Domain	Start	End	E-Value	Type
SCOP:d1jm7a_	21	88	3e-5	SMART
Blast:RING	27	62	8e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176274

SMART Domains

Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929

Domain	Start	End	E-Value	Type
low complexity region	3	48	N/A	INTRINSIC
low complexity region	78	91	N/A	INTRINSIC
RING	106	150	1.9e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229552

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,653,560	D60G	probably damaging	Het
9230110C19Rik	A	G	9: 8,022,432	V263A	probably benign	Het
Abca2	T	A	2: 25,445,963		probably null	Het
Adamts14	C	T	10: 61,229,676	R348H	probably damaging	Het
Aimp2	A	T	5: 143,906,706	I22N	probably damaging	Het
Cacna1c	A	G	6: 118,676,444		probably benign	Het
Cfap221	A	T	1: 119,932,845	Y684N	possibly damaging	Het
Cldn6	T	A	17: 23,681,724		probably benign	Het
Copb2	A	G	9: 98,568,077	M30V	probably benign	Het
Dcaf17	G	A	2: 71,078,159	E243K	probably benign	Het
Dhx35	T	C	2: 158,827,916	Y257H	probably damaging	Het
Dzank1	A	T	2: 144,481,725	Y600*	probably null	Het
Fam208a	T	G	14: 27,448,206	L364R	probably damaging	Het
Flvcr1	T	A	1: 191,015,489	R201*	probably null	Het
Fstl4	G	A	11: 53,186,275	V620I	probably benign	Het
Gm21976	G	A	13: 98,302,561	V20M	probably benign	Het
Ifi208	T	C	1: 173,679,038		probably null	Het
Kdm4c	T	C	4: 74,345,501	V674A	probably benign	Het
Lig1	T	A	7: 13,301,452	Y612*	probably null	Het
Marco	A	G	1: 120,485,703	V295A	probably benign	Het
Myo5c	T	C	9: 75,242,880		probably benign	Het
Olfr394	A	G	11: 73,888,249	L41P	probably damaging	Het
Olfr643	T	C	7: 104,059,416	Y62C	probably damaging	Het
Olfr815	T	A	10: 129,902,659	D17V	possibly damaging	Het
Pkd1l1	A	G	11: 8,961,971	M245T	unknown	Het
Pomt1	A	G	2: 32,241,772	I158V	probably benign	Het
Ptpn21	A	G	12: 98,680,468	W967R	probably damaging	Het
Rrp12	A	T	19: 41,887,094	M270K	possibly damaging	Het
Spats2	A	G	15: 99,180,593	E179G	possibly damaging	Het
Tapbp	T	C	17: 33,919,892	V11A	probably benign	Het
Tonsl	A	G	15: 76,638,496	F185S	possibly damaging	Het
Trpm1	A	G	7: 64,243,450	I901V	probably damaging	Het
Tulp2	A	G	7: 45,521,908	N371S	probably damaging	Het
Unc5d	A	T	8: 28,719,826	V433D	probably damaging	Het
Wasf3	G	A	5: 146,455,651	R177Q	probably damaging	Het
Wdr63	C	T	3: 146,083,004	G274E	probably benign	Het
Zfp715	A	T	7: 43,299,749	H262Q	possibly damaging	Het

Other mutations in Cyhr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03163:Cyhr1	APN	15	76659274	missense	probably damaging	0.97
R0107:Cyhr1	UTSW	15	76646347	missense	possibly damaging	0.90
R0445:Cyhr1	UTSW	15	76648257	missense	probably damaging	1.00
R0759:Cyhr1	UTSW	15	76646185	makesense	probably null
R1327:Cyhr1	UTSW	15	76649176	missense	probably damaging	0.98
R1366:Cyhr1	UTSW	15	76648969	missense	probably damaging	0.96
R1950:Cyhr1	UTSW	15	76659217	critical splice donor site	probably null
R3416:Cyhr1	UTSW	15	76658715	splice site	probably null
R5092:Cyhr1	UTSW	15	76646312	missense	probably benign	0.11
R5749:Cyhr1	UTSW	15	76658644	splice site	probably null
R5860:Cyhr1	UTSW	15	76648191	missense	probably damaging	1.00
R5860:Cyhr1	UTSW	15	76656415	missense	probably damaging	1.00
R6032:Cyhr1	UTSW	15	76658858	missense	probably damaging	0.99
R6032:Cyhr1	UTSW	15	76658858	missense	probably damaging	0.99
R6397:Cyhr1	UTSW	15	76648191	missense	probably damaging	1.00
R6481:Cyhr1	UTSW	15	76658708	splice site	probably null
R6533:Cyhr1	UTSW	15	76647730	nonsense	probably null
R7466:Cyhr1	UTSW	15	76648186	missense	probably benign	0.29
R7484:Cyhr1	UTSW	15	76646235	missense	probably damaging	1.00
R7629:Cyhr1	UTSW	15	76648186	missense	probably benign	0.29
R7732:Cyhr1	UTSW	15	76648186	missense	probably benign	0.29
R7763:Cyhr1	UTSW	15	76658547	missense	probably damaging	0.99
R7861:Cyhr1	UTSW	15	76648186	missense	probably benign	0.29
R9300:Cyhr1	UTSW	15	76646341	missense	probably benign	0.05

Posted On

2011-07-12