Mutagenetix > Incidental Mutation

Incidental Mutation 'RF019:2310009B15Rik'

603719

Institutional Source

Beutler Lab

Gene Symbol

2310009B15Rik

Ensembl Gene

ENSMUSG00000079283

Gene Name

RIKEN cDNA 2310009B15 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

RF019 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138779721-138784590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138784429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 43 (S43P)

Ref Sequence

ENSEMBL: ENSMUSP00000107656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112025] [ENSMUST00000193374]

AlphaFold

A0A0A6YWI4

Predicted Effect

probably benign
Transcript: ENSMUST00000112025
AA Change: S43P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193374
AA Change: S43P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141565
Gene: ENSMUSG00000079283
AA Change: S43P

Domain	Start	End	E-Value	Type
low complexity region	75	89	N/A	INTRINSIC
low complexity region	113	125	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

86% (36/42)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110021N24Rik	AGCGCGGCCGGG	AG	4: 108,637,827 (GRCm39)		probably null	Het
Ankrd11	A	G	8: 123,623,373 (GRCm39)	V294A	probably damaging	Het
Ciita	T	A	16: 10,324,611 (GRCm39)	I181N	probably damaging	Het
Col6a1	T	C	10: 76,547,449 (GRCm39)	M675V	unknown	Het
Colec11	A	G	12: 28,662,882 (GRCm39)	V62A	probably benign	Het
Eif3i	T	C	4: 129,494,258 (GRCm39)	T14A	probably damaging	Het
Filip1l	A	G	16: 57,391,004 (GRCm39)	T531A	probably benign	Het
Fscb	GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	12: 64,519,370 (GRCm39)		probably benign	Het
Garre1	A	G	7: 33,939,974 (GRCm39)	F918L	probably damaging	Het
Gpr89	T	C	3: 96,812,509 (GRCm39)	I11V	probably benign	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Hivep3	T	C	4: 119,955,467 (GRCm39)	V1261A	probably benign	Het
Itgad	C	A	7: 127,791,380 (GRCm39)	H751N	probably benign	Het
Krtap28-10	CCACAGCCACAGCCA	CCACAGCCACAGCCAACACAGCCACAGCCA	1: 83,019,990 (GRCm39)		probably benign	Het
L1td1	A	G	4: 98,625,061 (GRCm39)	K419E	not run	Het
Mast4	GGTGGTGGTGG	GGTGGTGGTGGTGGTGG	13: 102,872,815 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,252,289 (GRCm39)	W534R	probably damaging	Het
Myo9a	T	C	9: 59,829,055 (GRCm39)	V2387A	probably benign	Het
Ncapg	C	A	5: 45,856,198 (GRCm39)	P949Q	probably benign	Het
Nuggc	T	C	14: 65,885,713 (GRCm39)	F796S	probably damaging	Het
Otol1	A	T	3: 69,925,933 (GRCm39)	E36V	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTAT	15: 44,421,903 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,203,423 (GRCm39)	I1095T	possibly damaging	Het
Reep1	C	CCGCG	6: 71,684,953 (GRCm39)		probably null	Het
Smarca2	GCAGCA	GCAGCAACAGCA	19: 26,608,401 (GRCm39)		probably benign	Het
Tcf20	T	C	15: 82,735,794 (GRCm39)	I1886V	probably benign	Het
Txnrd1	T	G	10: 82,720,934 (GRCm39)		probably null	Het
Unc5b	A	G	10: 60,618,962 (GRCm39)	V60A	probably damaging	Het
Vmn1r45	A	T	6: 89,910,091 (GRCm39)	V293E	probably damaging	Het
Zfhx4	T	A	3: 5,468,327 (GRCm39)	D2853E	probably benign	Het
Zfp108	G	T	7: 23,961,032 (GRCm39)	R541L	probably benign	Het

Other mutations in 2310009B15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02514:2310009B15Rik	APN	1	138,779,909 (GRCm39)	nonsense	probably null
R1992:2310009B15Rik	UTSW	1	138,781,380 (GRCm39)	missense	probably damaging	0.99
R2351:2310009B15Rik	UTSW	1	138,779,846 (GRCm39)	nonsense	probably null
R4748:2310009B15Rik	UTSW	1	138,784,394 (GRCm39)	missense	possibly damaging	0.46
R4887:2310009B15Rik	UTSW	1	138,779,903 (GRCm39)	nonsense	probably null
R5065:2310009B15Rik	UTSW	1	138,779,893 (GRCm39)	missense	probably damaging	1.00
R5858:2310009B15Rik	UTSW	1	138,781,343 (GRCm39)	missense	probably benign	0.08
R6568:2310009B15Rik	UTSW	1	138,779,872 (GRCm39)	missense	possibly damaging	0.69
R6957:2310009B15Rik	UTSW	1	138,779,857 (GRCm39)	missense	probably damaging	1.00
R7079:2310009B15Rik	UTSW	1	138,779,865 (GRCm39)	missense	possibly damaging	0.84
R7213:2310009B15Rik	UTSW	1	138,781,367 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAAGTGCGACCGGGTTTC -3'
(R):5'- CTTTGCAGAGGACCCAGATG -3'

Sequencing Primer
(F):5'- GTTTCTCGCAGGACCCTCTGAG -3'
(R):5'- ACTGAACAGTGCTCCGC -3'

Posted On

2019-12-04