Mutagenetix > Incidental Mutation

Incidental Mutation 'R3919:4930567H17Rik'

306918

Institutional Source

Beutler Lab

Gene Symbol

4930567H17Rik

Ensembl Gene

ENSMUSG00000073141

Gene Name

RIKEN cDNA 4930567H17 gene

Synonyms

MMRRC Submission

040817-MU

Accession Numbers

Essential gene?

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

Stock #

R3919 (G1)

Quality Score

109

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	G	T	7: 44,230,428 (GRCm38)		probably benign	Het
Abcb5	A	G	12: 118,890,618 (GRCm38)	M854T	possibly damaging	Het
Akap9	T	A	5: 3,961,764 (GRCm38)	Y822*	probably null	Het
Apoe	T	C	7: 19,696,547 (GRCm38)	T257A	probably benign	Het
Atm	C	A	9: 53,492,278 (GRCm38)	A1365S	probably benign	Het
Bmp2k	T	C	5: 97,074,740 (GRCm38)	S674P	unknown	Het
Cd177	T	C	7: 24,744,433 (GRCm38)	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,380,223 (GRCm38)	F91L	possibly damaging	Het
Chil4	A	T	3: 106,202,532 (GRCm38)	N388K	probably benign	Het
Dnah3	G	A	7: 119,951,080 (GRCm38)	L3328F	probably damaging	Het
Dysf	G	A	6: 84,186,509 (GRCm38)		probably null	Het
Ercc5	C	A	1: 44,161,931 (GRCm38)	T217K	probably damaging	Het
Esyt1	T	A	10: 128,521,036 (GRCm38)		probably benign	Het
Ifih1	C	A	2: 62,623,501 (GRCm38)		probably benign	Het
Ints12	A	T	3: 133,100,683 (GRCm38)	T124S	probably benign	Het
Kdm5d	T	C	Y: 939,914 (GRCm38)	L1022P	probably damaging	Het
Lama2	T	A	10: 27,118,505 (GRCm38)	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 92,914,274 (GRCm38)	T449I	probably damaging	Het
Ly6c2	A	T	15: 75,108,764 (GRCm38)		probably null	Het
Mast3	T	C	8: 70,779,422 (GRCm38)	K1304E	probably benign	Het
Mdm4	T	C	1: 132,994,568 (GRCm38)	K279E	possibly damaging	Het
Mest	G	A	6: 30,742,750 (GRCm38)	S132N	probably benign	Het
Mras	T	A	9: 99,411,420 (GRCm38)	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,448,081 (GRCm38)	K28E	probably benign	Het
Myrip	G	A	9: 120,432,629 (GRCm38)	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,943,440 (GRCm38)	T379S	probably damaging	Het
Olfr1065	A	G	2: 86,445,418 (GRCm38)	V188A	probably benign	Het
Plscr3	T	A	11: 69,847,410 (GRCm38)		probably benign	Het
Pola1	C	A	X: 93,461,472 (GRCm38)	R1313L	probably benign	Het
Ppt2	T	C	17: 34,622,923 (GRCm38)	N213S	probably damaging	Het
Prelid2	T	A	18: 41,937,675 (GRCm38)	D31V	possibly damaging	Het
Psmb9	C	T	17: 34,183,614 (GRCm38)		probably null	Het
Rec8	A	G	14: 55,621,259 (GRCm38)	T164A	probably benign	Het
Rnf103	G	A	6: 71,510,347 (GRCm38)	R654Q	probably benign	Het
Setdb2	T	A	14: 59,419,167 (GRCm38)	I250F	probably damaging	Het
Slurp1	A	T	15: 74,726,810 (GRCm38)	*111K	probably null	Het
Sphkap	T	G	1: 83,276,458 (GRCm38)	E903A	probably damaging	Het
Sst	T	C	16: 23,889,841 (GRCm38)	D80G	possibly damaging	Het
Stat4	C	T	1: 52,096,822 (GRCm38)	T430I	possibly damaging	Het
Tmprss4	C	T	9: 45,180,666 (GRCm38)	V174M	probably benign	Het
Trim6	A	T	7: 104,232,850 (GRCm38)	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,285,379 (GRCm38)	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,527,538 (GRCm38)	N462D	possibly damaging	Het
Whrn	G	T	4: 63,495,184 (GRCm38)	S17*	probably null	Het
Zfhx4	T	A	3: 5,399,115 (GRCm38)	S1469R	possibly damaging	Het
Zfp108	T	A	7: 24,260,832 (GRCm38)	C283S	probably damaging	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
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
R4234:4930567H17Rik	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'- CCACTACTGGTCGAACAACTG -3'

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

Posted On

2015-04-17