Mutagenetix > Incidental Mutation

Incidental Mutation 'R2384:4933414I15Rik'

247651

Institutional Source

Beutler Lab

Gene Symbol

4933414I15Rik

Ensembl Gene

ENSMUSG00000072983

Gene Name

RIKEN cDNA 4933414I15 gene

Synonyms

ENSMUSG00000051192

MMRRC Submission

040358-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R2384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50832527-50834552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50833333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 90 (S90P)

Ref Sequence

ENSEMBL: ENSMUSP00000104751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109123]

AlphaFold

Q9D4D5

Predicted Effect

unknown
Transcript: ENSMUST00000109123
AA Change: S90P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156329

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.5%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca13	T	C	11: 9,217,450 (GRCm39)		probably benign	Het
Chpf	C	T	1: 75,451,753 (GRCm39)	R567H	probably benign	Het
Cnp	A	G	11: 100,467,279 (GRCm39)	Y74C	probably damaging	Het
Cul3	A	T	1: 80,261,406 (GRCm39)	V273D	probably damaging	Het
Dnmt3a	A	G	12: 3,951,591 (GRCm39)	Y656C	probably damaging	Het
Erich3	A	T	3: 154,470,288 (GRCm39)	E107V	possibly damaging	Het
Fscn2	T	C	11: 120,257,559 (GRCm39)	S307P	possibly damaging	Het
Grm5	A	G	7: 87,251,936 (GRCm39)	E62G	probably damaging	Het
Hdac4	T	C	1: 91,912,207 (GRCm39)	Y394C	probably benign	Het
Hipk2	A	G	6: 38,795,306 (GRCm39)	I314T	probably damaging	Het
Hsd17b12	T	A	2: 93,863,964 (GRCm39)	I293L	probably benign	Het
Il36g	A	G	2: 24,082,660 (GRCm39)	H145R	probably benign	Het
Ints12	T	A	3: 132,814,864 (GRCm39)		probably null	Het
Khdrbs2	T	C	1: 32,558,976 (GRCm39)	S369G	probably damaging	Het
Klrh1	T	A	6: 129,749,343 (GRCm39)	H84L	probably benign	Het
Mup5	T	A	4: 61,753,261 (GRCm39)		probably null	Het
Nlrp4g	A	G	9: 124,349,707 (GRCm38)		noncoding transcript	Het
Obscn	A	G	11: 58,933,663 (GRCm39)		probably null	Het
Ogdh	C	A	11: 6,292,526 (GRCm39)	A413D	probably damaging	Het
Podn	T	C	4: 107,879,269 (GRCm39)	E283G	probably damaging	Het
Ripk1	A	G	13: 34,214,026 (GRCm39)	D456G	probably benign	Het
Saxo4	A	C	19: 10,458,646 (GRCm39)		probably null	Het
Scg3	T	C	9: 75,573,008 (GRCm39)	T308A	probably damaging	Het
Sele	A	G	1: 163,878,344 (GRCm39)	T228A	probably benign	Het
Slc41a3	A	G	6: 90,603,393 (GRCm39)	E138G	probably damaging	Het
Tmem161a	T	C	8: 70,630,204 (GRCm39)	V104A	probably benign	Het
Tmem232	G	A	17: 65,709,852 (GRCm39)	R479W	probably damaging	Het
Trim26	C	T	17: 37,161,781 (GRCm39)	P67S	probably damaging	Het
Trpm8	A	G	1: 88,287,378 (GRCm39)	Y787C	probably benign	Het
Ttc28	T	A	5: 111,424,074 (GRCm39)	V1447D	possibly damaging	Het
Uaca	G	A	9: 60,777,199 (GRCm39)	A527T	probably damaging	Het
Ucp2	A	G	7: 100,147,461 (GRCm39)	I172V	probably benign	Het
Zzef1	T	A	11: 72,749,220 (GRCm39)	Y903N	probably damaging	Het

Other mutations in 4933414I15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02269:4933414I15Rik	APN	11	50,833,425 (GRCm39)	missense	unknown
IGL02598:4933414I15Rik	APN	11	50,834,448 (GRCm39)	start codon destroyed	probably null
BB010:4933414I15Rik	UTSW	11	50,833,227 (GRCm39)	missense	unknown
BB020:4933414I15Rik	UTSW	11	50,833,227 (GRCm39)	missense	unknown
R5226:4933414I15Rik	UTSW	11	50,833,416 (GRCm39)	missense	unknown
R6514:4933414I15Rik	UTSW	11	50,833,569 (GRCm39)	missense	unknown
R7933:4933414I15Rik	UTSW	11	50,833,227 (GRCm39)	missense	unknown
R8219:4933414I15Rik	UTSW	11	50,833,363 (GRCm39)	missense	unknown
R8700:4933414I15Rik	UTSW	11	50,833,344 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCAGTGCCTTGGTTCATG -3'
(R):5'- TGTGGCTATAACCTGCAGC -3'

Sequencing Primer
(F):5'- ATGCGCTCATGAACTCCC -3'
(R):5'- TATAACCTGCAGCGCCCTC -3'

Posted On

2014-11-11