Mutagenetix > Incidental Mutation

Incidental Mutation 'R4234:4930567H17Rik'

321039

Institutional Source

Beutler Lab

Gene Symbol

4930567H17Rik

Ensembl Gene

ENSMUSG00000073141

Gene Name

RIKEN cDNA 4930567H17 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4234 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

70393901-70394740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70394529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 53 (A53T)

Ref Sequence

ENSEMBL: ENSMUSP00000090060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092405]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000092405
AA Change: A53T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000090060
Gene: ENSMUSG00000073141
AA Change: A53T

Domain	Start	End	E-Value	Type
SCOP:d1sig__	115	223	1e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193512

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 9,000,786 (GRCm38)	K90*	probably null	Het
Ajuba	T	C	14: 54,569,526 (GRCm38)	R490G	probably damaging	Het
Akap6	T	A	12: 53,139,671 (GRCm38)	N1289K	probably damaging	Het
Ankfy1	G	A	11: 72,714,484 (GRCm38)		probably null	Het
Ap3s1	A	T	18: 46,779,200 (GRCm38)	T96S	probably benign	Het
Arhgap21	A	G	2: 20,887,137 (GRCm38)	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,450,317 (GRCm38)	I541T	possibly damaging	Het
Aspg	T	A	12: 112,123,316 (GRCm38)	Y429*	probably null	Het
Atg14	T	C	14: 47,551,345 (GRCm38)	K184E	probably benign	Het
BC034090	C	T	1: 155,241,580 (GRCm38)	G264D	probably benign	Het
Casp8	T	C	1: 58,844,770 (GRCm38)	V432A	probably damaging	Het
Cerk	T	C	15: 86,142,788 (GRCm38)	K174E	probably benign	Het
Col19a1	T	C	1: 24,315,395 (GRCm38)		probably null	Het
Cyp2c23	G	T	19: 44,029,165 (GRCm38)	T8K	unknown	Het
Ddx1	C	T	12: 13,223,857 (GRCm38)	V590I	possibly damaging	Het
Dok4	T	C	8: 94,865,664 (GRCm38)	E232G	probably damaging	Het
Dpf1	T	C	7: 29,315,632 (GRCm38)	S304P	probably damaging	Het
Dpyd	T	A	3: 119,431,584 (GRCm38)	I1002N	probably damaging	Het
Fam107b	T	C	2: 3,770,740 (GRCm38)	S3P	possibly damaging	Het
Gm1527	G	A	3: 28,914,366 (GRCm38)	G189D	probably damaging	Het
Hspa12b	T	C	2: 131,139,012 (GRCm38)	V162A	probably benign	Het
Lix1l	T	A	3: 96,623,657 (GRCm38)		probably null	Het
Mdc1	T	C	17: 35,848,824 (GRCm38)	C658R	probably benign	Het
Mrps30	T	C	13: 118,386,840 (GRCm38)	D132G	probably damaging	Het
Myh15	G	T	16: 49,163,042 (GRCm38)	V1507L	probably benign	Het
Nfe2l1	T	C	11: 96,819,909 (GRCm38)	D210G	probably damaging	Het
Notch3	T	A	17: 32,141,341 (GRCm38)	I1539F	probably damaging	Het
Pcdhac1	A	C	18: 37,090,958 (GRCm38)	S275R	probably damaging	Het
Pcdhga5	A	G	18: 37,695,948 (GRCm38)	D483G	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644 (GRCm38)	R2019Q	probably damaging	Het
Rbbp5	A	G	1: 132,484,758 (GRCm38)	T20A	probably benign	Het
Rere	T	C	4: 150,617,405 (GRCm38)	V1414A	probably damaging	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Ryr3	G	T	2: 112,910,407 (GRCm38)	N538K	probably damaging	Het
Serpina3j	C	A	12: 104,315,186 (GRCm38)	T206K	probably benign	Het
Skint11	C	A	4: 114,244,659 (GRCm38)	Q99K	probably benign	Het
Slc27a5	C	A	7: 12,988,443 (GRCm38)	C416F	probably benign	Het
Tas2r140	A	T	6: 133,054,952 (GRCm38)	V281D	probably damaging	Het
Tex30	A	T	1: 44,091,512 (GRCm38)	I32K	possibly damaging	Het
Trpc2	T	C	7: 102,088,135 (GRCm38)	I752T	possibly damaging	Het
Wnk2	A	G	13: 49,061,128 (GRCm38)	V1314A	probably benign	Het

Other mutations in 4930567H17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0737:4930567H17Rik	UTSW	X	70,394,207 (GRCm38)	unclassified	probably benign
R2257:4930567H17Rik	UTSW	X	70,394,406 (GRCm38)	missense	probably damaging	1.00
R3919:4930567H17Rik	UTSW	X	70,394,529 (GRCm38)	missense	probably benign	0.07
R3939:4930567H17Rik	UTSW	X	70,394,529 (GRCm38)	missense	probably benign	0.07
R3940:4930567H17Rik	UTSW	X	70,394,529 (GRCm38)	missense	probably benign	0.07
R4231:4930567H17Rik	UTSW	X	70,394,529 (GRCm38)	missense	probably benign	0.07
R4232:4930567H17Rik	UTSW	X	70,394,529 (GRCm38)	missense	probably benign	0.07
R4235:4930567H17Rik	UTSW	X	70,394,529 (GRCm38)	missense	probably benign	0.07
R4236:4930567H17Rik	UTSW	X	70,394,529 (GRCm38)	missense	probably benign	0.07
R8139:4930567H17Rik	UTSW	X	70,394,514 (GRCm38)	missense	possibly damaging	0.89
R8890:4930567H17Rik	UTSW	X	70,394,388 (GRCm38)	missense	possibly damaging	0.71
R8895:4930567H17Rik	UTSW	X	70,394,388 (GRCm38)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GGCAGCTTTCAGGATGTATCTG -3'
(R):5'- ACTACTGGTCGAACAACTGTC -3'

Sequencing Primer
(F):5'- CTGCATGGGTCGTATGAAGAC -3'
(R):5'- CTGTCTTAGAAAGTCAGGCAGTC -3'

Posted On

2015-06-12