Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:2310002L09Rik'

537091

Institutional Source

Beutler Lab

Gene Symbol

2310002L09Rik

Ensembl Gene

ENSMUSG00000028396

Gene Name

RIKEN cDNA 2310002L09 gene

Synonyms

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73939371-73950846 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73943053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 103 (D103E)

Ref Sequence

ENSEMBL: ENSMUSP00000092633 (fasta)

Gene Model

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

AlphaFold

Q9D7L5

Predicted Effect

probably benign
Transcript: ENSMUST00000030101
AA Change: D103E

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030101
Gene: ENSMUSG00000028396
AA Change: D103E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095023
AA Change: D103E

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000092633
Gene: ENSMUSG00000028396
AA Change: D103E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,375,555 (GRCm38)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,029,183 (GRCm38)	Y214C	possibly damaging	Het
Azi2	A	G	9: 118,049,895 (GRCm38)		probably null	Het
BC067074	C	A	13: 113,318,378 (GRCm38)	S319R	probably damaging	Het
Cacnb2	T	A	2: 14,986,015 (GRCm38)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,374,562 (GRCm38)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,404,132 (GRCm38)	V68I	probably benign	Het
Eea1	G	T	10: 96,037,478 (GRCm38)	C1134F	probably benign	Het
Ehmt2	T	G	17: 34,912,772 (GRCm38)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,365,350 (GRCm38)	F531L	probably damaging	Het
Eme1	G	A	11: 94,650,477 (GRCm38)	T173I	probably benign	Het
Gli2	A	T	1: 118,844,416 (GRCm38)	C520S	probably damaging	Het
Gm43302	T	C	5: 105,280,138 (GRCm38)	K186E	probably benign	Het
Gpr108	A	T	17: 57,236,990 (GRCm38)	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,955,642 (GRCm38)	T135N	probably benign	Het
Hydin	G	A	8: 110,532,856 (GRCm38)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 18,179,800 (GRCm38)	R25L	probably benign	Het
Igsf10	A	C	3: 59,331,933 (GRCm38)	S276A	probably benign	Het
Kctd1	A	G	18: 14,973,988 (GRCm38)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,152,501 (GRCm38)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,625,063 (GRCm38)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,809,744 (GRCm38)		probably benign	Het
Myh15	A	G	16: 49,153,111 (GRCm38)	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,944,109 (GRCm38)	F408S	probably benign	Het
Nrp1	T	C	8: 128,493,057 (GRCm38)	F652S	probably damaging	Het
Olfr1338	G	A	4: 118,754,307 (GRCm38)	T79I	probably damaging	Het
Olfr487	A	T	7: 108,211,918 (GRCm38)	F204I	probably benign	Het
Olfr574	A	T	7: 102,948,768 (GRCm38)	H91L	possibly damaging	Het
Olfr821	T	C	10: 130,034,532 (GRCm38)	M302T	probably benign	Het
Opa1	G	T	16: 29,620,868 (GRCm38)	R792L	probably benign	Het
Pcdha6	G	T	18: 36,968,343 (GRCm38)	L196F	probably damaging	Het
Pdia2	A	T	17: 26,196,970 (GRCm38)	Y347*	probably null	Het
Pdpr	G	T	8: 111,124,613 (GRCm38)		probably null	Het
Pigt	T	A	2: 164,507,331 (GRCm38)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,737,981 (GRCm38)	D591A	possibly damaging	Het
Prrg2	G	A	7: 45,059,989 (GRCm38)	T97M	possibly damaging	Het
Qars	A	G	9: 108,513,183 (GRCm38)	T428A	probably damaging	Het
Rai1	T	C	11: 60,185,715 (GRCm38)	F202L	probably damaging	Het
Rars	A	T	11: 35,808,486 (GRCm38)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,925 (GRCm38)		probably benign	Het
Slc16a6	A	C	11: 109,455,040 (GRCm38)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,954,153 (GRCm38)	T330A	probably damaging	Het
Smc1b	A	T	15: 85,067,759 (GRCm38)	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,251,470 (GRCm38)	A4S	possibly damaging	Het
Sv2b	A	C	7: 75,125,767 (GRCm38)		probably null	Het
Syt9	A	T	7: 107,425,286 (GRCm38)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,773,353 (GRCm38)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,944,300 (GRCm38)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,797,871 (GRCm38)	C3286S	probably damaging	Het
Vill	A	G	9: 119,065,882 (GRCm38)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,747,370 (GRCm38)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,117,267 (GRCm38)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,472,574 (GRCm38)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,601,142 (GRCm38)	V197A	probably benign	Het
Wasf1	A	T	10: 40,920,369 (GRCm38)	I32F	probably damaging	Het
Wasf2	G	T	4: 133,194,730 (GRCm38)	A387S	unknown	Het
Wdr92	G	A	11: 17,222,309 (GRCm38)	V133M	probably damaging	Het
Zbtb14	G	A	17: 69,387,679 (GRCm38)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm38)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,686,990 (GRCm38)	E882G	possibly damaging	Het

Other mutations in 2310002L09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:2310002L09Rik	APN	4	73,942,719 (GRCm38)	missense	possibly damaging	0.66
IGL01366:2310002L09Rik	APN	4	73,950,700 (GRCm38)	utr 5 prime	probably benign
IGL02596:2310002L09Rik	APN	4	73,950,667 (GRCm38)	missense	possibly damaging	0.94
R0841:2310002L09Rik	UTSW	4	73,942,749 (GRCm38)	missense	probably benign
R2919:2310002L09Rik	UTSW	4	73,950,608 (GRCm38)	missense	probably damaging	1.00
R6056:2310002L09Rik	UTSW	4	73,942,878 (GRCm38)	missense	probably benign	0.00
R6795:2310002L09Rik	UTSW	4	73,950,828 (GRCm38)	start gained	probably benign
R7709:2310002L09Rik	UTSW	4	73,942,854 (GRCm38)	missense	possibly damaging	0.52
R7793:2310002L09Rik	UTSW	4	73,942,935 (GRCm38)	missense	probably benign	0.05
R8517:2310002L09Rik	UTSW	4	73,942,969 (GRCm38)	missense	probably damaging	1.00
R8671:2310002L09Rik	UTSW	4	73,942,929 (GRCm38)	missense	probably damaging	1.00
R8867:2310002L09Rik	UTSW	4	73,942,850 (GRCm38)	missense	probably damaging	1.00
R8938:2310002L09Rik	UTSW	4	73,943,187 (GRCm38)	missense	probably damaging	1.00
R9618:2310002L09Rik	UTSW	4	73,950,697 (GRCm38)	start codon destroyed	probably null	0.46

Predicted Primers

PCR Primer
(F):5'- AATACCTGACTCCAAAAGGAGG -3'
(R):5'- CCCCTTGTCTAAAGTGGATGC -3'

Sequencing Primer
(F):5'- TGGAGCAACGCTTGACCAG -3'
(R):5'- CTTCTGAGCACATGGTTGCAAGC -3'

Posted On

2018-10-18