Mutagenetix > Incidental Mutations

Incidental Mutation 'R6533:Cyhr1'

520229

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 #

R6533 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76643395-76660117 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 76647730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 283 (E283*)

Ref Sequence

ENSEMBL: ENSMUSP00000134739 (fasta)

Gene Model

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

AlphaFold

Q9QXA1

Predicted Effect

probably benign
Transcript: ENSMUST00000081291

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929

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

Predicted Effect

probably null
Transcript: ENSMUST00000176274
AA Change: E283*

SMART Domains

Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
AA Change: E283*

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,719,835		probably benign	Het
4932414N04Rik	G	T	2: 68,716,318	E115*	probably null	Het
Abhd16a	G	A	17: 35,098,809		probably null	Het
Ankrd28	T	A	14: 31,732,084	I244L	possibly damaging	Het
Barx2	T	C	9: 31,912,979	Y38C	probably damaging	Het
Btn2a2	C	A	13: 23,481,781	E294*	probably null	Het
Ceacam2	C	G	7: 25,530,711	V157L	probably benign	Het
Ces2c	T	A	8: 104,852,093	F334L	possibly damaging	Het
Col7a1	T	C	9: 108,961,358	I958T	unknown	Het
Dcp2	T	A	18: 44,399,664	D82E	probably benign	Het
Dnah8	T	C	17: 30,746,990	L2432S	probably damaging	Het
Dst	A	G	1: 34,303,509	D7582G	probably benign	Het
Fat3	T	A	9: 15,998,899	I1936L	probably benign	Het
Gsdmc4	T	A	15: 63,892,060	N396I	probably damaging	Het
Lonrf2	A	C	1: 38,813,268	D167E	probably benign	Het
Marf1	T	C	16: 14,115,799	D1575G	probably benign	Het
Med23	T	C	10: 24,893,620	L101P	probably damaging	Het
Myh3	A	G	11: 67,090,419	I703V	probably damaging	Het
Ncan	G	A	8: 70,096,357	A1257V	probably benign	Het
Nipal4	A	T	11: 46,150,407	Y320*	probably null	Het
Obox5	A	T	7: 15,757,607	Q24L	probably benign	Het
Orc1	T	C	4: 108,597,447	S345P	probably benign	Het
P4hb	A	T	11: 120,571,643	I79N	probably damaging	Het
Phf3	A	T	1: 30,806,318	I1262N	probably damaging	Het
Pigo	A	T	4: 43,022,697	N291K	probably benign	Het
Ppargc1b	C	T	18: 61,307,774	R691H	possibly damaging	Het
Ppm1m	T	C	9: 106,196,870		probably benign	Het
Ptprd	A	T	4: 76,128,528	D500E	probably damaging	Het
Rab3gap2	T	A	1: 185,232,954		probably null	Het
Rnf214	A	G	9: 45,900,063	S101P	probably benign	Het
Sdhc	A	G	1: 171,129,827	S162P	possibly damaging	Het
Spta1	C	T	1: 174,244,147	T2231I	probably damaging	Het
Stxbp2	T	A	8: 3,642,683	D578E	probably benign	Het
Tacc2	A	T	7: 130,622,837	E417D	possibly damaging	Het
Tas2r144	A	T	6: 42,215,346	N7Y	probably benign	Het
Tasp1	A	G	2: 139,834,357	*421R	probably null	Het
Tigd5	A	G	15: 75,910,190	I134V	possibly damaging	Het
Tmem95	A	T	11: 69,878,017	M1K	probably null	Het
Trappc10	T	C	10: 78,188,894	M1134V	probably damaging	Het
Unc45a	T	G	7: 80,334,069	K326N	probably damaging	Het
Vmn1r59	A	G	7: 5,454,464	V99A	probably benign	Het
Vmn2r4	T	C	3: 64,415,098	T67A	probably benign	Het
Vmn2r85	A	T	10: 130,426,660	M70K	probably benign	Het
Zkscan8	A	G	13: 21,520,578	F325S	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	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
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'- ACATGTTCAGAGCTGGTGAC -3'
(R):5'- GCATGGCTCCTATAAATGTCCTTC -3'

Sequencing Primer
(F):5'- ATGAGATCCAGTGGGCCTG -3'
(R):5'- GGCTCCTATAAATGTCCTTCCCACC -3'

Posted On

2018-06-06