Mutagenetix > Incidental Mutation

Incidental Mutation 'R5139:2510039O18Rik'

396338

Institutional Source

Beutler Lab

Gene Symbol

2510039O18Rik

Ensembl Gene

ENSMUSG00000044496

Gene Name

RIKEN cDNA 2510039O18 gene

Synonyms

MMRRC Submission

042725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R5139 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148025352-148031771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148029905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 625 (L625P)

Ref Sequence

ENSEMBL: ENSMUSP00000099522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103232]

AlphaFold

Q91X21

Predicted Effect

probably damaging
Transcript: ENSMUST00000103232
AA Change: L625P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099522
Gene: ENSMUSG00000044496
AA Change: L625P

Domain	Start	End	E-Value	Type
Pfam:DUF2152	6	629	2.9e-251	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	A	G	13: 59,648,027 (GRCm39)	S598P	probably damaging	Het
Ahnak	A	C	19: 8,982,019 (GRCm39)	D1101A	probably damaging	Het
Aoah	T	C	13: 21,207,407 (GRCm39)	V542A	possibly damaging	Het
Aox1	T	C	1: 58,100,456 (GRCm39)	S418P	probably benign	Het
Appl1	A	G	14: 26,669,112 (GRCm39)	I354T	probably benign	Het
BC035947	T	C	1: 78,475,884 (GRCm39)	E216G	possibly damaging	Het
Bnip3l	A	G	14: 67,237,064 (GRCm39)	S63P	probably damaging	Het
Cckar	T	C	5: 53,860,265 (GRCm39)	N188S	probably benign	Het
Ccl24	C	T	5: 135,601,775 (GRCm39)	A18T	probably benign	Het
Cmya5	A	G	13: 93,232,569 (GRCm39)	C840R	probably benign	Het
Copa	C	T	1: 171,948,896 (GRCm39)	R1183W	probably damaging	Het
Dnah10	T	C	5: 124,876,024 (GRCm39)	V2621A	probably damaging	Het
Fryl	A	G	5: 73,248,061 (GRCm39)	Y1019H	probably damaging	Het
Hira	T	C	16: 18,773,508 (GRCm39)	Y943H	probably damaging	Het
Ighv3-8	T	C	12: 114,285,994 (GRCm39)	Y116C	probably damaging	Het
Igkv4-70	G	A	6: 69,245,089 (GRCm39)	T44I	probably damaging	Het
Lce3c	G	A	3: 92,852,778 (GRCm39)	G80S	unknown	Het
Ldhb	A	T	6: 142,439,921 (GRCm39)	N206K	probably damaging	Het
Mical1	T	A	10: 41,354,411 (GRCm39)		probably null	Het
Myh2	T	C	11: 67,070,174 (GRCm39)	L402P	probably damaging	Het
Naa15	T	A	3: 51,351,261 (GRCm39)	L144I	probably damaging	Het
Nbea	T	A	3: 55,534,384 (GRCm39)	I2918F	possibly damaging	Het
Or5w11	C	A	2: 87,459,000 (GRCm39)	H64Q	probably benign	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pdlim7	A	G	13: 55,654,869 (GRCm39)	S214P	probably damaging	Het
Polg	T	C	7: 79,099,773 (GRCm39)	D49G	probably damaging	Het
Polr2f	C	A	15: 79,035,858 (GRCm39)	D106E	possibly damaging	Het
Ppp6r3	A	C	19: 3,514,610 (GRCm39)	N766K	probably damaging	Het
Prl8a1	T	A	13: 27,758,049 (GRCm39)	D220V	probably damaging	Het
Qrfprl	A	T	6: 65,433,203 (GRCm39)	N341I	probably damaging	Het
Septin9	A	G	11: 117,247,511 (GRCm39)	K497E	possibly damaging	Het
Sfswap	T	G	5: 129,648,073 (GRCm39)	M927R	possibly damaging	Het
Smad9	T	G	3: 54,704,827 (GRCm39)	W400G	possibly damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Tcaf3	A	G	6: 42,573,867 (GRCm39)	V115A	probably benign	Het
Tesmin	A	G	19: 3,456,934 (GRCm39)	I238V	probably damaging	Het
Trf	C	T	9: 103,100,133 (GRCm39)		probably null	Het
Trpc3	A	T	3: 36,725,706 (GRCm39)	M90K	possibly damaging	Het
Tshz3	C	T	7: 36,470,450 (GRCm39)	T813I	probably benign	Het
Tub	T	A	7: 108,610,309 (GRCm39)	M1K	probably null	Het
Wdfy3	A	T	5: 101,997,133 (GRCm39)		probably null	Het
Zfp853	T	C	5: 143,274,570 (GRCm39)	Q350R	unknown	Het

Other mutations in 2510039O18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:2510039O18Rik	APN	4	148,029,521 (GRCm39)	missense	probably damaging	1.00
R1135:2510039O18Rik	UTSW	4	148,029,115 (GRCm39)	missense	probably benign	0.26
R1546:2510039O18Rik	UTSW	4	148,026,232 (GRCm39)	missense	probably damaging	0.97
R2008:2510039O18Rik	UTSW	4	148,026,034 (GRCm39)	missense	probably benign	0.31
R2437:2510039O18Rik	UTSW	4	148,031,075 (GRCm39)	makesense	probably null
R3937:2510039O18Rik	UTSW	4	148,026,510 (GRCm39)	missense	possibly damaging	0.54
R3970:2510039O18Rik	UTSW	4	148,029,779 (GRCm39)	missense	probably damaging	0.99
R3973:2510039O18Rik	UTSW	4	148,029,488 (GRCm39)	missense	probably damaging	1.00
R3974:2510039O18Rik	UTSW	4	148,029,488 (GRCm39)	missense	probably damaging	1.00
R4050:2510039O18Rik	UTSW	4	148,029,449 (GRCm39)	missense	probably damaging	1.00
R4431:2510039O18Rik	UTSW	4	148,026,022 (GRCm39)	missense	probably benign	0.01
R4750:2510039O18Rik	UTSW	4	148,025,945 (GRCm39)	missense	probably damaging	0.99
R4943:2510039O18Rik	UTSW	4	148,029,555 (GRCm39)	missense	probably damaging	1.00
R6735:2510039O18Rik	UTSW	4	148,026,274 (GRCm39)	missense	probably benign
R7139:2510039O18Rik	UTSW	4	148,026,295 (GRCm39)	missense	possibly damaging	0.90
R7689:2510039O18Rik	UTSW	4	148,029,440 (GRCm39)	missense	probably damaging	1.00
R8307:2510039O18Rik	UTSW	4	148,025,837 (GRCm39)	missense	probably benign	0.00
R9336:2510039O18Rik	UTSW	4	148,029,490 (GRCm39)	missense	probably benign	0.01
R9591:2510039O18Rik	UTSW	4	148,029,488 (GRCm39)	missense	probably damaging	1.00
R9618:2510039O18Rik	UTSW	4	148,029,873 (GRCm39)	nonsense	probably null
V5088:2510039O18Rik	UTSW	4	148,026,233 (GRCm39)	missense	probably benign	0.18
V5622:2510039O18Rik	UTSW	4	148,026,233 (GRCm39)	missense	probably benign	0.18
V5622:2510039O18Rik	UTSW	4	148,026,233 (GRCm39)	missense	probably benign	0.18
Z1088:2510039O18Rik	UTSW	4	148,029,202 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTTGTACATCTCCACCGACC -3'
(R):5'- AATGGCCTGACCTCTAAGGG -3'

Sequencing Primer
(F):5'- TCACACATCTGCAGGACCTG -3'
(R):5'- ATCAGCCTGCTGTCAAATGG -3'

Posted On

2016-06-21