Mutagenetix > Incidental Mutation

Incidental Mutation 'R7629:Cyhr1'

589567

Institutional Source

Beutler Lab

Gene Symbol

Cyhr1

Ensembl Gene

ENSMUSG00000053929

Gene Name

cysteine and histidine rich 1

Synonyms

1110031M01Rik, Chrp

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76643395-76660117 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76648186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 241 (D241N)

Ref Sequence

ENSEMBL: ENSMUSP00000134739 (fasta)

Gene Model

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

AlphaFold

Q9QXA1

Predicted Effect

probably benign
Transcript: ENSMUST00000081291
AA Change: D153N

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: D153N

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
AA Change: D241N

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
AA Change: D241N

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

possibly damaging
Transcript: ENSMUST00000229524
AA Change: D241N

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405 (GRCm38)	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067 (GRCm38)	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493 (GRCm38)		probably null	Het
Ankrd10	A	T	8: 11,615,769 (GRCm38)	V277E	probably benign	Het
Ankrd28	C	T	14: 31,715,264 (GRCm38)	V615I	probably benign	Het
Aqr	G	A	2: 114,114,593 (GRCm38)	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504 (GRCm38)	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169 (GRCm38)	V289A	possibly damaging	Het
D430042O09Rik	T	C	7: 125,795,250 (GRCm38)	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473 (GRCm38)	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212 (GRCm38)	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270 (GRCm38)	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486 (GRCm38)	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317 (GRCm38)	D88E	probably benign	Het
Flywch1	A	G	17: 23,755,770 (GRCm38)	M632T	probably benign	Het
Henmt1	A	G	3: 108,958,597 (GRCm38)	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446 (GRCm38)	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335 (GRCm38)	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260 (GRCm38)	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675 (GRCm38)	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,361,164 (GRCm38)	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257 (GRCm38)		probably null	Het
Mgat4c	G	A	10: 102,389,070 (GRCm38)	V382I	probably benign	Het
Mpp6	T	C	6: 50,196,623 (GRCm38)	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785 (GRCm38)	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254 (GRCm38)		probably null	Het
Neb	T	C	2: 52,273,961 (GRCm38)	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694 (GRCm38)	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876 (GRCm38)	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068 (GRCm38)	Y35H	probably damaging	Het
Panx3	T	A	9: 37,661,444 (GRCm38)	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,959,319 (GRCm38)	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006 (GRCm38)	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191 (GRCm38)	M363L	probably damaging	Het
Prmt8	A	T	6: 127,689,883 (GRCm38)	L376*	probably null	Het
Serpina1a	G	C	12: 103,853,808 (GRCm38)	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022 (GRCm38)	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395 (GRCm38)	W7R	possibly damaging	Het
Skint5	T	C	4: 113,942,660 (GRCm38)	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,936,624 (GRCm38)	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202 (GRCm38)	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782 (GRCm38)		probably null	Het
Tctn3	C	G	19: 40,611,336 (GRCm38)	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728 (GRCm38)	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937 (GRCm38)	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334 (GRCm38)	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855 (GRCm38)		probably null	Het
Vmn1r72	T	C	7: 11,669,784 (GRCm38)	I246V	probably benign	Het
Zfp362	G	T	4: 128,786,055 (GRCm38)	R273S	probably damaging	Het
Zfp715	T	C	7: 43,301,676 (GRCm38)	D66G	possibly damaging	Het

Other mutations in Cyhr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Cyhr1	APN	15	76,646,538 (GRCm38)	missense	probably damaging	1.00
IGL03163:Cyhr1	APN	15	76,659,274 (GRCm38)	missense	probably damaging	0.97
R0107:Cyhr1	UTSW	15	76,646,347 (GRCm38)	missense	possibly damaging	0.90
R0445:Cyhr1	UTSW	15	76,648,257 (GRCm38)	missense	probably damaging	1.00
R0759:Cyhr1	UTSW	15	76,646,185 (GRCm38)	makesense	probably null
R1327:Cyhr1	UTSW	15	76,649,176 (GRCm38)	missense	probably damaging	0.98
R1366:Cyhr1	UTSW	15	76,648,969 (GRCm38)	missense	probably damaging	0.96
R1950:Cyhr1	UTSW	15	76,659,217 (GRCm38)	critical splice donor site	probably null
R3416:Cyhr1	UTSW	15	76,658,715 (GRCm38)	splice site	probably null
R5092:Cyhr1	UTSW	15	76,646,312 (GRCm38)	missense	probably benign	0.11
R5749:Cyhr1	UTSW	15	76,658,644 (GRCm38)	splice site	probably null
R5860:Cyhr1	UTSW	15	76,656,415 (GRCm38)	missense	probably damaging	1.00
R5860:Cyhr1	UTSW	15	76,648,191 (GRCm38)	missense	probably damaging	1.00
R6032:Cyhr1	UTSW	15	76,658,858 (GRCm38)	missense	probably damaging	0.99
R6032:Cyhr1	UTSW	15	76,658,858 (GRCm38)	missense	probably damaging	0.99
R6397:Cyhr1	UTSW	15	76,648,191 (GRCm38)	missense	probably damaging	1.00
R6481:Cyhr1	UTSW	15	76,658,708 (GRCm38)	splice site	probably null
R6533:Cyhr1	UTSW	15	76,647,730 (GRCm38)	nonsense	probably null
R7466:Cyhr1	UTSW	15	76,648,186 (GRCm38)	missense	probably benign	0.29
R7484:Cyhr1	UTSW	15	76,646,235 (GRCm38)	missense	probably damaging	1.00
R7732:Cyhr1	UTSW	15	76,648,186 (GRCm38)	missense	probably benign	0.29
R7763:Cyhr1	UTSW	15	76,658,547 (GRCm38)	missense	probably damaging	0.99
R7861:Cyhr1	UTSW	15	76,648,186 (GRCm38)	missense	probably benign	0.29
R9300:Cyhr1	UTSW	15	76,646,341 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TAGGAGCCATGCAGGTACATC -3'
(R):5'- TTTGTTCCAGCCACAGAGTTG -3'

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

Posted On

2019-10-24