Mutagenetix > Incidental Mutation

Incidental Mutation 'R5860:Cyhr1'

453867

Institutional Source

Beutler Lab

Gene Symbol

Cyhr1

Ensembl Gene

ENSMUSG00000053929

Gene Name

cysteine and histidine rich 1

Synonyms

1110031M01Rik, Chrp

MMRRC Submission

044072-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R5860 (G1)

Quality Score

225

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: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.8%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568A12Rik	A	G	1: 34,485,580		noncoding transcript	Het
A2ml1	T	C	6: 128,541,061	T1421A	probably benign	Het
Actr8	T	A	14: 29,986,285	Y150*	probably null	Het
Adamts1	A	G	16: 85,798,544	C249R	probably damaging	Het
Adgre1	T	A	17: 57,445,034	I594N	probably damaging	Het
Atf6	A	T	1: 170,841,775	L119H	probably damaging	Het
Atf6	G	A	1: 170,841,776	L119F	possibly damaging	Het
B3gat2	G	A	1: 23,815,319	W33*	probably null	Het
Bach2	A	G	4: 32,580,268	D831G	probably damaging	Het
Ccnk	A	T	12: 108,187,207	I76F	probably damaging	Het
Cdyl	A	C	13: 35,858,083	K368T	possibly damaging	Het
Chil1	A	G	1: 134,185,171	T114A	probably benign	Het
Cnppd1	A	G	1: 75,136,487	V379A	probably benign	Het
Col11a2	C	A	17: 34,064,185		probably benign	Het
Creb3l1	T	C	2: 92,024,054	S18G	probably benign	Het
Crybg3	A	C	16: 59,565,269	D197E	probably damaging	Het
Cryga	T	C	1: 65,103,368		probably benign	Het
Cthrc1	T	C	15: 39,086,685	C146R	probably damaging	Het
Cyp2c39	A	T	19: 39,536,826	D191V	probably damaging	Het
Dchs1	C	T	7: 105,772,035	A393T	probably damaging	Het
Dhx30	G	A	9: 110,084,577	T1126I	probably damaging	Het
Dock2	C	T	11: 34,256,562	G1345R	probably damaging	Het
Dsc1	T	C	18: 20,095,024	E425G	probably damaging	Het
Exosc8	C	T	3: 54,735,042		probably benign	Het
Fat1	C	T	8: 45,051,129	A4553V	probably benign	Het
Flnb	T	A	14: 7,931,135	L2119Q	probably damaging	Het
Fnbp4	T	A	2: 90,757,482	D401E	probably benign	Het
Glyctk	T	C	9: 106,155,707	E369G	possibly damaging	Het
Gm14149	C	A	2: 151,224,305		noncoding transcript	Het
Golga4	T	C	9: 118,558,106	L1432P	probably damaging	Het
Gtpbp4	A	T	13: 8,973,160	S623T	probably benign	Het
Insc	A	C	7: 114,791,148	S85R	probably damaging	Het
Lgr4	G	A	2: 109,991,151	R126H	probably damaging	Het
M1ap	T	A	6: 83,003,814	L227Q	probably damaging	Het
March7	T	C	2: 60,236,843	I569T	probably damaging	Het
Mbd1	C	A	18: 74,276,697	C339*	probably null	Het
Moxd2	T	A	6: 40,880,407	Y473F	probably damaging	Het
Mrgpra6	T	C	7: 47,189,351	H2R	probably benign	Het
Mtus1	T	G	8: 41,076,266	L742F	probably damaging	Het
Nek11	A	G	9: 105,392,961	Y21H	probably benign	Het
Notch4	G	T	17: 34,582,418	C1080F	probably damaging	Het
Nsd3	C	A	8: 25,666,091	P558Q	probably damaging	Het
Oas1e	A	T	5: 120,791,950	S168T	probably benign	Het
Ogfr	T	C	2: 180,592,492	S119P	probably damaging	Het
Olfr1387	A	G	11: 49,459,736	D19G	probably damaging	Het
Olfr44	T	A	9: 39,484,471	M261L	probably benign	Het
Pde4dip	A	G	3: 97,724,188	I1135T	possibly damaging	Het
Prex1	G	A	2: 166,644,684		probably benign	Het
Ptprf	T	C	4: 118,211,289		probably benign	Het
Rapsn	T	C	2: 91,045,514	V359A	probably damaging	Het
Ric1	A	G	19: 29,599,845	S1050G	possibly damaging	Het
Rnft2	A	G	5: 118,228,803	I290T	possibly damaging	Het
Senp7	C	A	16: 56,155,359	A476E	possibly damaging	Het
Serpinh1	G	A	7: 99,346,364	S337L	probably damaging	Het
Slc5a12	C	A	2: 110,597,624	A8D	probably benign	Het
Smg5	T	A	3: 88,342,907	C109S	probably damaging	Het
Speer4b	T	C	5: 27,500,228	H49R	possibly damaging	Het
Tas2r109	T	C	6: 132,980,701	I89V	probably benign	Het
Tctex1d2	A	G	16: 32,428,796	Y143C	probably damaging	Het
Tet1	A	G	10: 62,812,620		probably null	Het
Tmed6	G	T	8: 107,064,154	T87K	probably damaging	Het
Tpgs1	G	A	10: 79,669,711	G101D	probably damaging	Het
Trim13	T	G	14: 61,604,739	S68R	probably damaging	Het
Vwf	A	G	6: 125,643,090	N1577S		Het
Vwf	G	T	6: 125,679,265		probably benign	Het
Xpr1	T	C	1: 155,332,122		probably benign	Het
Ylpm1	C	T	12: 85,040,886	P1148L	probably damaging	Het
Zscan29	G	T	2: 121,164,037	T489N	probably damaging	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	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'- AGGAGCCATGCAGGTACATC -3'
(R):5'- ATGACCGTTTGTTCCAGCCAC -3'

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

Posted On

2017-02-10