Mutagenetix > Incidental Mutations

Incidental Mutation 'R0445:Cyhr1'

39337

Institutional Source

Beutler Lab

Gene Symbol

Cyhr1

Ensembl Gene

ENSMUSG00000053929

Gene Name

cysteine and histidine rich 1

Synonyms

1110031M01Rik, Chrp

MMRRC Submission

038646-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R0445 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

76643395-76660117 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76648257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 217 (H217R)

Ref Sequence

ENSEMBL: ENSMUSP00000155816 (fasta)

Gene Model

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

AlphaFold

Q9QXA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000081291
AA Change: H129R

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

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: H129R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176274
AA Change: H217R

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
AA Change: H217R

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: H217R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229552

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,090,022		probably null	Het
4932438A13Rik	T	C	3: 37,000,065	V3111A	probably damaging	Het
A2m	C	T	6: 121,657,955	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,615,895	S483P	probably damaging	Het
Adam22	T	A	5: 8,180,591		probably benign	Het
Aggf1	A	G	13: 95,354,001	V595A	possibly damaging	Het
Aplf	A	T	6: 87,663,752	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172	P292T	probably benign	Het
Brms1l	T	A	12: 55,861,406	Y213*	probably null	Het
C87436	T	A	6: 86,449,850	S332T	possibly damaging	Het
Cad	G	A	5: 31,072,709	A1454T	probably benign	Het
Cdkn3	T	C	14: 46,767,400		probably null	Het
Cnot1	A	G	8: 95,760,208	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,104,743	I541F	probably benign	Het
Dennd1b	A	G	1: 139,167,765		probably benign	Het
Dscam	A	T	16: 96,772,503	I753N	probably damaging	Het
Eef2	C	CN	10: 81,178,770		probably null	Het
Epg5	T	A	18: 78,014,184	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,932,400	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989	N694K	probably damaging	Het
Fermt3	T	C	19: 7,003,299	H300R	probably benign	Het
Galnt5	C	A	2: 57,998,950	F187L	probably benign	Het
Gm17067	A	G	7: 42,708,622	I152T	probably benign	Het
Gnb3	T	C	6: 124,837,255	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,370,144		probably benign	Het
Hdac3	A	G	18: 37,943,724	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,968,441		probably null	Het
Kif1b	A	T	4: 149,188,009	L1455Q	probably benign	Het
Krt1	A	C	15: 101,847,621	L388R	probably damaging	Het
Lrp1	T	A	10: 127,590,636	K635*	probably null	Het
Map3k2	A	G	18: 32,217,210	Y371C	probably damaging	Het
Mcu	T	C	10: 59,456,645		probably benign	Het
Mkrn1	C	T	6: 39,404,854	V167I	probably benign	Het
Mrpl9	T	A	3: 94,444,891		probably benign	Het
Naip2	T	C	13: 100,161,887	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,947,729	T487I	probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Obscn	C	T	11: 58,999,335	R7457H	unknown	Het
Olfr1383	T	A	11: 49,523,957	V78E	probably damaging	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Paf1	T	C	7: 28,395,688	S118P	probably damaging	Het
Parp4	T	A	14: 56,602,748		probably null	Het
Pcdh15	A	T	10: 74,342,549	Y157F	probably damaging	Het
Pex10	G	A	4: 155,069,074		probably null	Het
Phrf1	C	T	7: 141,247,331		probably benign	Het
Polr3a	G	T	14: 24,454,921	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,327,289	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,790,867	L263S	probably benign	Het
Ryr3	T	C	2: 112,866,054	D967G	probably benign	Het
Shc1	G	T	3: 89,426,537	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,354,366	V585A	probably benign	Het
Stk38l	T	A	6: 146,775,686	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,149,469	S40T	probably damaging	Het
Tet1	A	G	10: 62,879,941	M25T	probably benign	Het
Themis	A	G	10: 28,782,011	R192G	probably damaging	Het
Tmem144	T	C	3: 79,825,354	T206A	probably benign	Het
Tmem74b	G	A	2: 151,706,959	R202H	probably damaging	Het
Trpm1	T	C	7: 64,244,842		probably benign	Het
Vars	A	G	17: 35,011,809	H557R	probably benign	Het
Zbtb12	C	A	17: 34,896,301	A354E	possibly damaging	Het
Zfp143	A	T	7: 110,061,117		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
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

Predicted Primers

PCR Primer
(F):5'- ATAGGAGCCATGCAGGTACATCCC -3'
(R):5'- TGTGCTGCTGACATGTGCTCTAAG -3'

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

Posted On

2013-05-23