Mutagenetix > Incidental Mutation

Incidental Mutation 'R2919:2310002L09Rik'

255414

Institutional Source

Beutler Lab

Gene Symbol

2310002L09Rik

Ensembl Gene

ENSMUSG00000028396

Gene Name

RIKEN cDNA 2310002L09 gene

Synonyms

MMRRC Submission

040504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73857608-73869083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73868845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 31 (L31Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030101] [ENSMUST00000095023]

AlphaFold

Q9D7L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030101
AA Change: L31Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030101
Gene: ENSMUSG00000028396
AA Change: L31Q

Domain	Start	End	E-Value	Type
transmembrane domain	173	195	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000095023
AA Change: L31Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092633
Gene: ENSMUSG00000028396
AA Change: L31Q

Domain	Start	End	E-Value	Type
transmembrane domain	174	196	N/A	INTRINSIC

Meta Mutation Damage Score

0.2037

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,122,001 (GRCm39)	R27H	probably benign	Het
Agbl1	G	A	7: 76,064,406 (GRCm39)	D53N	probably damaging	Het
Aloxe3	C	T	11: 69,033,749 (GRCm39)	T621I	probably damaging	Het
Als2cl	A	T	9: 110,726,567 (GRCm39)		probably null	Het
Atg9b	T	A	5: 24,596,542 (GRCm39)	T125S	possibly damaging	Het
Casp8ap2	A	G	4: 32,645,343 (GRCm39)	D1472G	probably damaging	Het
Cd1d2	C	G	3: 86,894,987 (GRCm39)	P158A	probably damaging	Het
Cdc45	A	G	16: 18,627,543 (GRCm39)	I94T	probably benign	Het
Chd6	T	G	2: 160,809,800 (GRCm39)	D1487A	possibly damaging	Het
Edem2	T	C	2: 155,550,947 (GRCm39)	Y340C	probably damaging	Het
Fbxl12	C	T	9: 20,553,509 (GRCm39)	R26H	probably damaging	Het
Fgfr3	A	G	5: 33,891,284 (GRCm39)	N516S	probably damaging	Het
Gm5884	A	G	6: 128,622,021 (GRCm39)		noncoding transcript	Het
Hdac1-ps	A	G	17: 78,800,275 (GRCm39)	D422G	probably damaging	Het
Inpp4b	C	A	8: 82,711,958 (GRCm39)	A425E	possibly damaging	Het
Kif1a	A	G	1: 92,974,464 (GRCm39)	Y964H	probably damaging	Het
Lrp1b	A	C	2: 41,660,911 (GRCm39)	C66G	probably damaging	Het
Lrp4	A	G	2: 91,321,075 (GRCm39)	I1034V	probably benign	Het
Meak7	G	A	8: 120,495,056 (GRCm39)	A234V	probably benign	Het
Mmrn2	T	C	14: 34,124,879 (GRCm39)	V820A	possibly damaging	Het
Mphosph9	G	A	5: 124,399,069 (GRCm39)	T982I	probably benign	Het
Mroh9	A	C	1: 162,884,341 (GRCm39)	M399R	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
N4bp2	G	A	5: 65,964,441 (GRCm39)	G830D	probably benign	Het
Nagpa	G	A	16: 5,021,651 (GRCm39)		probably benign	Het
Or52b1	C	T	7: 104,979,067 (GRCm39)	V111M	probably damaging	Het
Or5g23	G	A	2: 85,438,754 (GRCm39)	P167S	probably benign	Het
Oxgr1	T	A	14: 120,260,221 (GRCm39)		probably benign	Het
Parp3	T	A	9: 106,350,924 (GRCm39)	R323W	possibly damaging	Het
Pfkfb3	C	T	2: 11,489,138 (GRCm39)	V286I	probably benign	Het
Pfkp	C	T	13: 6,643,279 (GRCm39)	G513D	probably damaging	Het
Pla2g4d	T	C	2: 120,112,108 (GRCm39)		probably benign	Het
Rtl1	T	C	12: 109,557,582 (GRCm39)	E1419G	unknown	Het
Sdf2	G	C	11: 78,145,680 (GRCm39)	V126L	probably damaging	Het
Sgk2	T	G	2: 162,841,115 (GRCm39)	L175R	probably damaging	Het
Sgk2	C	A	2: 162,841,125 (GRCm39)	F178L	probably damaging	Het
Sim1	T	C	10: 50,785,911 (GRCm39)	Y255H	probably benign	Het
Slc13a5	T	C	11: 72,138,617 (GRCm39)	E442G	possibly damaging	Het
Slc38a3	A	T	9: 107,534,886 (GRCm39)	I163N	probably damaging	Het
Slc39a4	A	G	15: 76,500,870 (GRCm39)	L31P	probably damaging	Het
Slc5a11	GGTGC	G	7: 122,838,595 (GRCm39)		probably null	Het
Slfnl1	G	T	4: 120,390,275 (GRCm39)		probably benign	Het
Stradb	G	A	1: 59,031,828 (GRCm39)	V247M	probably benign	Het
Styk1	T	A	6: 131,289,967 (GRCm39)		probably benign	Het
Sult1d1	A	G	5: 87,707,614 (GRCm39)		probably benign	Het
Syk	C	T	13: 52,765,157 (GRCm39)	P95S	probably benign	Het
Taar2	T	A	10: 23,817,454 (GRCm39)	N331K	probably benign	Het
Thsd7b	A	G	1: 130,117,587 (GRCm39)		probably benign	Het
Tmbim7	G	A	5: 3,723,188 (GRCm39)		probably null	Het
Tmem107	T	C	11: 68,962,247 (GRCm39)	L68P	probably damaging	Het
Tmem184c	A	T	8: 78,331,276 (GRCm39)	C158S	probably damaging	Het
Tmpo	A	G	10: 90,988,548 (GRCm39)	I310T	probably benign	Het
Ugt2b5	A	G	5: 87,273,266 (GRCm39)	F467L	possibly damaging	Het
Xirp1	T	C	9: 119,847,767 (GRCm39)	E372G	possibly damaging	Het
Zbtb5	T	C	4: 44,994,790 (GRCm39)	E198G	probably damaging	Het
Zfp804a	A	G	2: 82,066,160 (GRCm39)	N44D	probably damaging	Het

Other mutations in 2310002L09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:2310002L09Rik	APN	4	73,860,956 (GRCm39)	missense	possibly damaging	0.66
IGL01366:2310002L09Rik	APN	4	73,868,937 (GRCm39)	utr 5 prime	probably benign
IGL02596:2310002L09Rik	APN	4	73,868,904 (GRCm39)	missense	possibly damaging	0.94
R0841:2310002L09Rik	UTSW	4	73,860,986 (GRCm39)	missense	probably benign
R6056:2310002L09Rik	UTSW	4	73,861,115 (GRCm39)	missense	probably benign	0.00
R6795:2310002L09Rik	UTSW	4	73,869,065 (GRCm39)	start gained	probably benign
R6889:2310002L09Rik	UTSW	4	73,861,290 (GRCm39)	missense	probably benign	0.19
R7709:2310002L09Rik	UTSW	4	73,861,091 (GRCm39)	missense	possibly damaging	0.52
R7793:2310002L09Rik	UTSW	4	73,861,172 (GRCm39)	missense	probably benign	0.05
R8517:2310002L09Rik	UTSW	4	73,861,206 (GRCm39)	missense	probably damaging	1.00
R8671:2310002L09Rik	UTSW	4	73,861,166 (GRCm39)	missense	probably damaging	1.00
R8867:2310002L09Rik	UTSW	4	73,861,087 (GRCm39)	missense	probably damaging	1.00
R8938:2310002L09Rik	UTSW	4	73,861,424 (GRCm39)	missense	probably damaging	1.00
R9618:2310002L09Rik	UTSW	4	73,868,934 (GRCm39)	start codon destroyed	probably null	0.46

Predicted Primers

PCR Primer
(F):5'- TACACTCCGCAGTACCATTC -3'
(R):5'- AAGGTCAAAGCTGTTGTTGCTG -3'

Sequencing Primer
(F):5'- ACACTCCGCAGTACCATTCTCTAC -3'
(R):5'- TGGTTGCATATGTACAGGGACACTAC -3'

Posted On

2014-12-29