Mutagenetix > Incidental Mutation

Incidental Mutation 'R4680:4931414P19Rik'

349997

Institutional Source

Beutler Lab

Gene Symbol

4931414P19Rik

Ensembl Gene

ENSMUSG00000022179

Gene Name

RIKEN cDNA 4931414P19 gene

Synonyms

MMRRC Submission

041933-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R4680 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54821120-54843450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54822533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 368 (Y368C)

Ref Sequence

ENSEMBL: ENSMUSP00000022786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022786]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022786
AA Change: Y368C

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

SMART Domains

Protein: ENSMUSP00000022786
Gene: ENSMUSG00000022179
AA Change: Y368C

Domain	Start	End	E-Value	Type
Pfam:DUF4616	2	538	1.5e-263	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082808

Predicted Effect

probably benign
Transcript: ENSMUST00000227280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228422

Meta Mutation Damage Score

0.6603

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,315,390 (GRCm39)	L96Q	probably damaging	Het
Acin1	T	C	14: 54,924,215 (GRCm39)	N8S	probably benign	Het
Aspm	T	C	1: 139,408,409 (GRCm39)	V2432A	probably benign	Het
Atf2	A	T	2: 73,659,025 (GRCm39)		probably null	Het
B3gnt2	A	G	11: 22,787,105 (GRCm39)	S28P	probably damaging	Het
Chil5	A	G	3: 105,942,191 (GRCm39)		probably benign	Het
Crybg2	CTTCCAGAGCCATGGACCCATCTTTTCCA	CTTCCA	4: 133,800,029 (GRCm39)		probably null	Het
Dennd3	A	T	15: 73,405,225 (GRCm39)	H326L	possibly damaging	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Eprs1	T	C	1: 185,118,475 (GRCm39)	V461A	possibly damaging	Het
Fhad1	G	A	4: 141,738,858 (GRCm39)	Q31*	probably null	Het
Gpr26	A	G	7: 131,576,082 (GRCm39)	T249A	probably benign	Het
Gtf2ird1	T	A	5: 134,386,735 (GRCm39)	M958L	probably damaging	Het
Kat2b-ps	A	G	5: 93,539,299 (GRCm39)		noncoding transcript	Het
Kdm2b	A	T	5: 123,072,849 (GRCm39)	V343E	probably damaging	Het
Lipi	A	G	16: 75,362,417 (GRCm39)		probably null	Het
Ltb4r1	T	C	14: 56,004,925 (GRCm39)	F76S	probably damaging	Het
Msantd2	A	G	9: 37,434,387 (GRCm39)	Y209C	probably damaging	Het
Nid1	G	A	13: 13,647,437 (GRCm39)	C401Y	probably damaging	Het
Obox1	A	T	7: 15,290,089 (GRCm39)	N144I	probably damaging	Het
Or14j7	T	C	17: 38,234,813 (GRCm39)	S119P	probably damaging	Het
Or8h9	T	C	2: 86,789,665 (GRCm39)	I46V	possibly damaging	Het
Or8k20	T	A	2: 86,106,517 (GRCm39)	I105F	possibly damaging	Het
Plec	T	C	15: 76,064,775 (GRCm39)	E1630G	unknown	Het
Ppp2r5e	C	T	12: 75,516,533 (GRCm39)	R218Q	probably damaging	Het
Prkdc	A	G	16: 15,589,894 (GRCm39)	T2586A	probably benign	Het
Ptprj	T	C	2: 90,290,840 (GRCm39)	N633S	probably benign	Het
Rab11fip2	T	C	19: 59,924,452 (GRCm39)	N284S	probably benign	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Ropn1	A	G	16: 34,497,675 (GRCm39)	Q189R	possibly damaging	Het
Rwdd2b	A	G	16: 87,233,950 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,610,119 (GRCm39)	S4236T	probably benign	Het
Sigmar1	A	G	4: 41,741,251 (GRCm39)	M1T	probably null	Het
Sncg	T	A	14: 34,095,268 (GRCm39)	N79I	probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Ttn	C	T	2: 76,763,021 (GRCm39)	G3213S	probably damaging	Het
Uqcrc1	G	A	9: 108,776,929 (GRCm39)	R77H	probably damaging	Het
Vps13d	A	C	4: 144,835,080 (GRCm39)	L2756R	possibly damaging	Het

Other mutations in 4931414P19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:4931414P19Rik	APN	14	54,833,035 (GRCm39)	missense	possibly damaging	0.56
IGL01448:4931414P19Rik	APN	14	54,823,417 (GRCm39)	missense	possibly damaging	0.77
IGL01934:4931414P19Rik	APN	14	54,823,112 (GRCm39)	missense	probably damaging	1.00
IGL02194:4931414P19Rik	APN	14	54,828,812 (GRCm39)	nonsense	probably null
IGL02721:4931414P19Rik	APN	14	54,823,202 (GRCm39)	missense	probably damaging	1.00
IGL03124:4931414P19Rik	APN	14	54,832,596 (GRCm39)	missense	probably benign	0.00
R0575:4931414P19Rik	UTSW	14	54,828,709 (GRCm39)	missense	possibly damaging	0.62
R2049:4931414P19Rik	UTSW	14	54,822,444 (GRCm39)	nonsense	probably null
R3829:4931414P19Rik	UTSW	14	54,821,966 (GRCm39)	missense	probably damaging	1.00
R3876:4931414P19Rik	UTSW	14	54,828,857 (GRCm39)	nonsense	probably null
R4392:4931414P19Rik	UTSW	14	54,822,435 (GRCm39)	critical splice donor site	probably null
R4805:4931414P19Rik	UTSW	14	54,832,911 (GRCm39)	missense	probably benign	0.00
R4940:4931414P19Rik	UTSW	14	54,828,782 (GRCm39)	missense	probably benign
R5091:4931414P19Rik	UTSW	14	54,823,168 (GRCm39)	missense	probably damaging	1.00
R5291:4931414P19Rik	UTSW	14	54,823,394 (GRCm39)	missense	probably damaging	1.00
R5594:4931414P19Rik	UTSW	14	54,822,441 (GRCm39)	missense	probably damaging	1.00
R6815:4931414P19Rik	UTSW	14	54,828,610 (GRCm39)	missense	probably damaging	1.00
R7031:4931414P19Rik	UTSW	14	54,833,058 (GRCm39)	missense	probably benign	0.23
R7229:4931414P19Rik	UTSW	14	54,832,809 (GRCm39)	missense	probably benign	0.00
R7616:4931414P19Rik	UTSW	14	54,823,123 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTACTGTACCCTTTGGCC -3'
(R):5'- GAGGCTCTCTTCAAACCATAAGC -3'

Sequencing Primer
(F):5'- GGCCTGTCCCTCACATTACAG -3'
(R):5'- GAAGCCAGCCCTTTTGACC -3'

Posted On

2015-10-08