Mutagenetix > Incidental Mutation

Incidental Mutation 'R1327:Cyhr1'

157256

Institutional Source

Beutler Lab

Gene Symbol

Cyhr1

Ensembl Gene

ENSMUSG00000053929

Gene Name

cysteine and histidine rich 1

Synonyms

1110031M01Rik, Chrp

MMRRC Submission

039393-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R1327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76643395-76660117 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76649176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 121 (T121S)

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: T33S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: T33S

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: T121S

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
AA Change: T121S

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: T121S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229552

Meta Mutation Damage Score

0.0885

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.8%
20x: 88.1%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,733,183	F99L	possibly damaging	Het
Arg1	T	C	10: 24,920,804		probably null	Het
Bsnd	C	T	4: 106,486,612	E166K	probably benign	Het
Cxcl9	A	G	5: 92,326,850	C30R	probably damaging	Het
Ect2l	C	T	10: 18,165,542	R296H	probably benign	Het
Epha5	C	A	5: 84,106,785	D632Y	probably damaging	Het
Fbxw11	T	C	11: 32,711,859	Y79H	probably benign	Het
Fh1	A	G	1: 175,609,744	M263T	probably benign	Het
Gm14124	A	T	2: 150,266,150	H10L	possibly damaging	Het
Mrgprb1	A	T	7: 48,447,429	I245N	possibly damaging	Het
Ms4a13	A	T	19: 11,183,887	I96N	probably damaging	Het
Nipa2	G	A	7: 55,944,508	L38F	possibly damaging	Het
Pappa	T	A	4: 65,351,603		probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf111	A	T	9: 70,453,816	D454E	possibly damaging	Het
Rp1	C	T	1: 4,347,970	G973D	probably benign	Het
Rtn3	A	G	19: 7,431,011	V922A	possibly damaging	Het
Setbp1	T	C	18: 78,783,358	M1347V	probably benign	Het
Slc6a6	A	G	6: 91,726,035	I130V	probably benign	Het
Smad7	T	C	18: 75,375,945	S48P	probably benign	Het
Star	A	G	8: 25,809,837	D69G	probably benign	Het
Syne1	C	A	10: 5,048,925		probably benign	Het
Synj1	A	T	16: 90,946,855	N1212K	probably benign	Het
Tep1	T	C	14: 50,853,099	M721V	probably benign	Het
Txndc11	T	C	16: 11,116,814	D223G	possibly damaging	Het
Vit	G	A	17: 78,625,200	D579N	probably damaging	Het
Zan	T	C	5: 137,465,911		probably benign	Het
Zfp318	A	G	17: 46,413,263	E2064G	probably damaging	Het
Zic5	T	G	14: 122,459,779		probably benign	Het
Zzef1	T	C	11: 72,893,414		probably null	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
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'- TCCTGGTGTAGTGGACCTTCCAAG -3'
(R):5'- AGCATGACATCTGAAGCAGCTCTC -3'

Sequencing Primer
(F):5'- GAAAGGTATGCTCTTACCACCTGG -3'
(R):5'- ATCTGAAGCAGCTCTCAGTGTATG -3'

Posted On

2014-02-18