Mutagenetix > Incidental Mutation

Incidental Mutation 'R8185:2310003L06Rik'

634813

Institutional Source

Beutler Lab

Gene Symbol

2310003L06Rik

Ensembl Gene

ENSMUSG00000007457

Gene Name

RIKEN cDNA 2310003L06 gene

Synonyms

MMRRC Submission

067608-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8185 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88117318-88120729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88120011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 256 (V256A)

Ref Sequence

ENSEMBL: ENSMUSP00000007601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007601] [ENSMUST00000187738]

AlphaFold

Q9CV82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007601
AA Change: V256A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: V256A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187738

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	G	A	1: 90,141,666 (GRCm39)	V42M	probably benign	Het
C9	T	A	15: 6,520,878 (GRCm39)	I441N	probably damaging	Het
Cd44	G	A	2: 102,654,665 (GRCm39)	A667V	possibly damaging	Het
Cdc23	T	C	18: 34,774,197 (GRCm39)	N322D	probably benign	Het
Chrm2	A	G	6: 36,500,824 (GRCm39)	N227S	probably benign	Het
Cnot1	C	T	8: 96,487,979 (GRCm39)	R559Q	probably damaging	Het
Cntnap4	A	G	8: 113,391,897 (GRCm39)	N121D	probably damaging	Het
Cog7	A	G	7: 121,576,969 (GRCm39)	L63P	probably damaging	Het
Cpne7	C	T	8: 123,854,168 (GRCm39)	A285V	probably benign	Het
Cpsf7	C	T	19: 10,514,224 (GRCm39)	R343*	probably null	Het
Cubn	T	G	2: 13,299,129 (GRCm39)	K3181N	probably benign	Het
Dsg1a	C	T	18: 20,473,669 (GRCm39)	T914I	probably damaging	Het
Ebf3	A	T	7: 136,827,607 (GRCm39)	C255S	possibly damaging	Het
Eif1ad5	T	A	12: 87,940,433 (GRCm39)	W46R	noncoding transcript	Het
Fasn	A	T	11: 120,702,969 (GRCm39)	I1658N	probably benign	Het
Fcgr2b	A	G	1: 170,794,020 (GRCm39)	V210A	probably damaging	Het
Flvcr1	G	A	1: 190,747,681 (GRCm39)	P305S	probably damaging	Het
Frem3	G	T	8: 81,338,933 (GRCm39)	E409*	probably null	Het
Gabrr2	T	A	4: 33,082,330 (GRCm39)	D213E	probably damaging	Het
Ggt1	T	A	10: 75,421,040 (GRCm39)	D418E	possibly damaging	Het
Immt	C	T	6: 71,849,835 (GRCm39)	Q530*	probably null	Het
Ints10	T	C	8: 69,249,370 (GRCm39)	F67L	possibly damaging	Het
Kdm4c	C	T	4: 74,291,821 (GRCm39)	H813Y	probably benign	Het
Klhl5	T	A	5: 65,313,471 (GRCm39)	M395K	probably damaging	Het
Klk1b11	T	C	7: 43,426,332 (GRCm39)	I49T	probably damaging	Het
Lmln	A	T	16: 32,909,690 (GRCm39)	N357I	probably damaging	Het
Lpar1	A	T	4: 58,486,509 (GRCm39)	M254K	probably damaging	Het
Macc1	T	C	12: 119,410,894 (GRCm39)	V554A	probably damaging	Het
Melk	G	A	4: 44,360,965 (GRCm39)	V582I	probably benign	Het
Mmp27	A	G	9: 7,573,492 (GRCm39)	T195A	unknown	Het
Nedd4l	T	C	18: 65,342,769 (GRCm39)	F781L	probably damaging	Het
Nvl	G	A	1: 180,971,739 (GRCm39)		probably benign	Het
Nxpe4	G	A	9: 48,304,509 (GRCm39)	D199N	possibly damaging	Het
Or2k2	T	C	4: 58,785,542 (GRCm39)	Y60C	probably damaging	Het
Or8b8	A	C	9: 37,809,531 (GRCm39)	Y277S	probably damaging	Het
Ovol1	T	C	19: 5,601,542 (GRCm39)	D160G	probably damaging	Het
Ppp1r13l	C	T	7: 19,106,863 (GRCm39)	P453S	probably benign	Het
Ppp1r37	C	T	7: 19,266,873 (GRCm39)	G373S	probably damaging	Het
Slc7a9	T	C	7: 35,151,842 (GRCm39)	S46P	probably damaging	Het
Sntn	A	G	14: 13,679,014 (GRCm38)	I63V	probably benign	Het
Syde2	T	C	3: 145,694,667 (GRCm39)	V305A	probably benign	Het
Tpp1	A	T	7: 105,398,430 (GRCm39)		probably null	Het
Vmn1r179	A	T	7: 23,628,163 (GRCm39)	N118I	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in 2310003L06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:2310003L06Rik	APN	5	88,120,649 (GRCm39)	missense	probably benign	0.37
IGL01938:2310003L06Rik	APN	5	88,119,567 (GRCm39)	missense	probably damaging	0.99
IGL03032:2310003L06Rik	APN	5	88,119,774 (GRCm39)	missense	possibly damaging	0.94
D3080:2310003L06Rik	UTSW	5	88,119,846 (GRCm39)	missense	possibly damaging	0.53
G1Funyon:2310003L06Rik	UTSW	5	88,120,364 (GRCm39)	missense	probably benign	0.01
IGL02984:2310003L06Rik	UTSW	5	88,120,662 (GRCm39)	missense	probably damaging	0.97
PIT4243001:2310003L06Rik	UTSW	5	88,119,999 (GRCm39)	missense	possibly damaging	0.95
R0359:2310003L06Rik	UTSW	5	88,112,455 (GRCm39)	unclassified	probably benign
R0676:2310003L06Rik	UTSW	5	88,112,516 (GRCm39)	unclassified	probably benign
R1524:2310003L06Rik	UTSW	5	88,119,548 (GRCm39)	missense	probably benign	0.37
R1536:2310003L06Rik	UTSW	5	88,118,524 (GRCm39)	missense	probably benign
R1998:2310003L06Rik	UTSW	5	88,118,553 (GRCm39)	missense	probably damaging	0.98
R2080:2310003L06Rik	UTSW	5	88,119,792 (GRCm39)	missense	probably damaging	1.00
R2132:2310003L06Rik	UTSW	5	88,112,335 (GRCm39)	unclassified	probably benign
R2177:2310003L06Rik	UTSW	5	88,120,312 (GRCm39)	missense	probably damaging	0.98
R2399:2310003L06Rik	UTSW	5	88,120,338 (GRCm39)	missense	probably damaging	0.98
R3748:2310003L06Rik	UTSW	5	88,112,422 (GRCm39)	unclassified	probably benign
R4010:2310003L06Rik	UTSW	5	88,120,136 (GRCm39)	missense	probably damaging	0.96
R4096:2310003L06Rik	UTSW	5	88,120,008 (GRCm39)	missense	possibly damaging	0.57
R4656:2310003L06Rik	UTSW	5	88,112,534 (GRCm39)	unclassified	probably benign
R4823:2310003L06Rik	UTSW	5	88,120,457 (GRCm39)	missense	probably benign	0.00
R5753:2310003L06Rik	UTSW	5	88,120,374 (GRCm39)	missense	probably damaging	0.99
R6087:2310003L06Rik	UTSW	5	88,119,621 (GRCm39)	missense	possibly damaging	0.94
R6931:2310003L06Rik	UTSW	5	88,118,561 (GRCm39)	missense	probably damaging	0.97
R7032:2310003L06Rik	UTSW	5	88,120,438 (GRCm39)	missense	possibly damaging	0.79
R7703:2310003L06Rik	UTSW	5	88,120,671 (GRCm39)	missense	possibly damaging	0.90
R7912:2310003L06Rik	UTSW	5	88,120,451 (GRCm39)	missense	probably benign	0.35
R8301:2310003L06Rik	UTSW	5	88,120,364 (GRCm39)	missense	probably benign	0.01
R9010:2310003L06Rik	UTSW	5	88,119,504 (GRCm39)	missense	possibly damaging	0.68
R9179:2310003L06Rik	UTSW	5	88,119,890 (GRCm39)	missense	probably benign	0.00
R9225:2310003L06Rik	UTSW	5	88,120,433 (GRCm39)	missense	probably benign
R9226:2310003L06Rik	UTSW	5	88,118,518 (GRCm39)	start codon destroyed	probably benign	0.14
R9309:2310003L06Rik	UTSW	5	88,120,332 (GRCm39)	missense	probably damaging	0.99
R9373:2310003L06Rik	UTSW	5	88,120,668 (GRCm39)	missense	probably benign	0.37
R9431:2310003L06Rik	UTSW	5	88,120,325 (GRCm39)	missense	possibly damaging	0.78
Z1088:2310003L06Rik	UTSW	5	88,120,165 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTTCCCATCCACTGGCAGAAC -3'
(R):5'- CCCATCATTTTCAAGGCTACTG -3'

Sequencing Primer
(F):5'- CACTGGCAGAACTAAAGCATTGTTTG -3'
(R):5'- CCATCATTTTCAAGGCTACTGTATTG -3'

Posted On

2020-07-13