Mutagenetix > Incidental Mutations

Incidental Mutation 'R7484:Cyhr1'

580022

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 non essential (E-score: 0.428) question?

Stock #

R7484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76643395-76660117 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76646235 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 295 (L295P)

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: L295P

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

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: L295P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	A	5: 114,218,862	V1285I	probably damaging	Het
Acly	A	T	11: 100,495,963	I591N	probably damaging	Het
Acr	T	A	15: 89,573,224	V225E	probably damaging	Het
Actr8	A	G	14: 29,992,968	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,648	Q1592K	probably benign	Het
AI481877	A	T	4: 59,062,286	V924E	probably damaging	Het
Aire	T	C	10: 78,042,570	E138G	probably damaging	Het
Apob	C	T	12: 8,006,884	Q1789*	probably null	Het
BC147527	A	T	13: 120,308,481	K112N	probably damaging	Het
Cbx5	A	C	15: 103,205,829		probably null	Het
Cd300lb	A	T	11: 114,928,519	W95R	probably damaging	Het
Cdc16	A	G	8: 13,777,605	T504A	probably benign	Het
Cenpf	A	G	1: 189,656,821	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,272,535	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,254,041	W454R	probably benign	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,338,899	T104A	possibly damaging	Het
Cyp4a12b	A	G	4: 115,432,563	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,648,689	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,749,446		probably null	Het
Eif3l	T	G	15: 79,084,136	C202G	probably benign	Het
Ephx4	T	G	5: 107,429,746	M312R	probably damaging	Het
Erich6	A	T	3: 58,626,691		probably null	Het
Far2	G	A	6: 148,173,913	D424N	probably damaging	Het
Fat1	C	A	8: 45,036,184	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,780,031	C117Y	probably damaging	Het
Fyb2	A	T	4: 105,013,302	H700L	probably benign	Het
Gm438	A	G	4: 144,777,951	L210P	probably damaging	Het
Gm8356	T	A	14: 6,535,135	M128L	probably benign	Het
Golim4	G	T	3: 75,898,135		probably null	Het
Grm1	T	G	10: 10,746,659	D440A	probably benign	Het
Gtf2a1	A	G	12: 91,562,973	V322A	probably benign	Het
Hid1	T	C	11: 115,352,581		probably null	Het
Igfals	G	A	17: 24,879,988	V18M	possibly damaging	Het
Klk1b24	G	T	7: 44,190,264		probably null	Het
Lmbr1	T	C	5: 29,346,852		probably benign	Het
Lrrc40	T	C	3: 158,040,557	S90P	probably benign	Het
Mapk9	T	C	11: 49,872,836	Y185H	probably damaging	Het
Marveld2	C	T	13: 100,611,560	G337D	probably damaging	Het
Mga	G	T	2: 119,946,229	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,672,616	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,472,529		probably null	Het
Muc16	T	A	9: 18,646,768	H2743L	unknown	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Olfr1130	T	C	2: 87,607,937	F183S	probably damaging	Het
Olfr166	A	G	16: 19,487,003	H55R	possibly damaging	Het
Plcd3	T	G	11: 103,071,719	K635N	probably damaging	Het
Prkch	T	A	12: 73,585,527		probably null	Het
Rb1cc1	T	C	1: 6,274,217	V1570A	probably damaging	Het
Rp1	T	C	1: 4,345,481	N1803D	probably benign	Het
Rufy3	T	A	5: 88,598,472	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,771,532	Q181*	probably null	Het
Sgcb	A	G	5: 73,639,845	F191L	possibly damaging	Het
Sgsh	T	A	11: 119,346,357	D477V	probably damaging	Het
Slc22a28	C	A	19: 8,071,127	S385I	probably benign	Het
Slc26a3	T	C	12: 31,447,788	V47A	probably benign	Het
Slco2a1	A	T	9: 103,067,986	I187F	probably damaging	Het
Sltm	T	C	9: 70,573,897	S344P	unknown	Het
Sort1	A	G	3: 108,338,825	T373A	probably damaging	Het
Stab1	A	G	14: 31,160,317	F474L	probably benign	Het
Tbc1d5	G	T	17: 50,917,545	A326E	possibly damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wdr70	G	A	15: 7,922,081	T425I	probably benign	Het
Zfp30	T	C	7: 29,792,806	Y243H	probably benign	Het
Zfp974	A	T	7: 27,912,134	N55K	possibly 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
R6533:Cyhr1	UTSW	15	76647730	nonsense	probably null
R7466:Cyhr1	UTSW	15	76648186	missense	probably benign	0.29
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'- CATGCAGACTTTCTCAGTGTTTG -3'
(R):5'- AGCGCACACTTTCCTTCCAG -3'

Sequencing Primer
(F):5'- CAGACTTTCTCAGTGTTTGATTCTG -3'
(R):5'- CCTTCCAGCTACTCCTCAAG -3'

Posted On

2019-10-07