Mutagenetix > Incidental Mutations

Incidental Mutation 'R6397:Cyhr1'

516043

Institutional Source

Beutler Lab

Gene Symbol

Cyhr1

Ensembl Gene

ENSMUSG00000053929

Gene Name

cysteine and histidine rich 1

Synonyms

1110031M01Rik, Chrp

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R6397 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76643395-76660117 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76648191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 239 (I239N)

Ref Sequence

ENSEMBL: ENSMUSP00000155816 (fasta)

Gene Model

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

AlphaFold

Q9QXA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081291
AA Change: I151N

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: I151N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176274
AA Change: I239N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
AA Change: I239N

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 damaging
Transcript: ENSMUST00000229524
AA Change: I239N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229552

Meta Mutation Damage Score

0.2000

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

94% (29/31)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	C	17: 33,066,245	N528D	probably benign	Het
Arfgef3	G	T	10: 18,607,665	S1437*	probably null	Het
Cdh1	T	C	8: 106,604,290	S18P	possibly damaging	Het
Dmbt1	T	C	7: 131,103,578	V1137A	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Fam69a	T	A	5: 107,911,638	K105*	probably null	Het
Gm3486	G	A	14: 41,486,386	L123F	probably benign	Het
Ifi203	C	A	1: 173,927,204	V654L	probably benign	Het
Kalrn	A	G	16: 33,992,985	L787P	probably damaging	Het
Kazald1	A	G	19: 45,076,878	E66G	probably benign	Het
Map4	T	A	9: 110,027,716	D151E	possibly damaging	Het
Msrb3	G	A	10: 120,791,451	T42I	probably damaging	Het
Nfatc1	C	T	18: 80,635,941	C744Y	probably damaging	Het
Nlgn1	T	A	3: 25,433,663	H836L	possibly damaging	Het
Nrxn2	A	G	19: 6,532,122	N653D	probably damaging	Het
Olfr324	A	G	11: 58,597,512	T39A	probably benign	Het
Oprk1	A	G	1: 5,598,748	Y139C	probably damaging	Het
Pcdhb5	T	A	18: 37,321,505	S313T	probably benign	Het
Pcdhb8	C	T	18: 37,355,463	R65*	probably null	Het
Pstpip2	T	G	18: 77,873,379	C221G	probably benign	Het
Sall2	T	A	14: 52,315,153	H195L	probably damaging	Het
Snx7	A	G	3: 117,846,623	I79T	probably benign	Het
Sptbn2	A	T	19: 4,742,418	E1367V	possibly damaging	Het
Stau1	A	G	2: 166,951,007	V346A	possibly damaging	Het
Tchh	A	G	3: 93,445,866	E871G	unknown	Het
Tlr9	A	G	9: 106,225,106	N532S	probably damaging	Het
Tuba1c	G	A	15: 99,037,857	A400T	probably benign	Het
Vmn2r86	A	T	10: 130,446,262	Y828*	probably null	Het
Vps45	A	G	3: 96,042,852	I255T	probably benign	Het
Yap1	T	C	9: 8,001,466	Y173C	probably damaging	Het
Zc3h7b	A	T	15: 81,792,854	I821F	probably benign	Het

Other mutations in Cyhr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Cyhr1	APN	15	76646538	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGGAGCCATGCAGGTACATC -3'
(R):5'- ACCGTTTGTTCCAGCCACAG -3'

Sequencing Primer
(F):5'- ACTGCCCAGAGCCTACTG -3'
(R):5'- GTTCCAGCCACAGAGTTGATC -3'

Posted On

2018-05-04