Mutagenetix > Incidental Mutation

Incidental Mutation 'R6397:Gm3486'

535665

Institutional Source

Beutler Lab

Gene Symbol

Gm3486

Ensembl Gene

ENSMUSG00000090505

Gene Name

predicted gene 3486

Synonyms

MMRRC Submission

044545-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

R6397 (G1)

Quality Score

48.0072

Status

Validated

Chromosome

Chromosomal Location

41206189-41211442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41208343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 123 (L123F)

Ref Sequence

ENSEMBL: ENSMUSP00000131656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169361]

AlphaFold

L7N2D0

Predicted Effect

probably benign
Transcript: ENSMUST00000169361
AA Change: L123F

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131656
Gene: ENSMUSG00000090505
AA Change: L123F

Domain	Start	End	E-Value	Type
Pfam:Takusan	25	103	1.8e-20	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

94% (29/31)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Cdh1	T	C	8: 107,330,922 (GRCm39)	S18P	possibly damaging	Het
Dipk1a	T	A	5: 108,059,504 (GRCm39)	K105*	probably null	Het
Dmbt1	T	C	7: 130,705,308 (GRCm39)	V1137A	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Ifi203	C	A	1: 173,754,770 (GRCm39)	V654L	probably benign	Het
Kalrn	A	G	16: 33,813,355 (GRCm39)	L787P	probably damaging	Het
Kazald1	A	G	19: 45,065,317 (GRCm39)	E66G	probably benign	Het
Map4	T	A	9: 109,856,784 (GRCm39)	D151E	possibly damaging	Het
Msrb3	G	A	10: 120,627,356 (GRCm39)	T42I	probably damaging	Het
Nfatc1	C	T	18: 80,679,156 (GRCm39)	C744Y	probably damaging	Het
Nlgn1	T	A	3: 25,487,827 (GRCm39)	H836L	possibly damaging	Het
Nrxn2	A	G	19: 6,582,152 (GRCm39)	N653D	probably damaging	Het
Oprk1	A	G	1: 5,668,971 (GRCm39)	Y139C	probably damaging	Het
Or2ab1	A	G	11: 58,488,338 (GRCm39)	T39A	probably benign	Het
Pcdhb5	T	A	18: 37,454,558 (GRCm39)	S313T	probably benign	Het
Pcdhb8	C	T	18: 37,488,516 (GRCm39)	R65*	probably null	Het
Phf8-ps	T	C	17: 33,285,219 (GRCm39)	N528D	probably benign	Het
Pstpip2	T	G	18: 77,961,079 (GRCm39)	C221G	probably benign	Het
Sall2	T	A	14: 52,552,610 (GRCm39)	H195L	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sptbn2	A	T	19: 4,792,446 (GRCm39)	E1367V	possibly damaging	Het
Stau1	A	G	2: 166,792,927 (GRCm39)	V346A	possibly damaging	Het
Tchh	A	G	3: 93,353,173 (GRCm39)	E871G	unknown	Het
Tlr9	A	G	9: 106,102,305 (GRCm39)	N532S	probably damaging	Het
Tuba1c	G	A	15: 98,935,738 (GRCm39)	A400T	probably benign	Het
Vmn2r86	A	T	10: 130,282,131 (GRCm39)	Y828*	probably null	Het
Vps45	A	G	3: 95,950,164 (GRCm39)	I255T	probably benign	Het
Yap1	T	C	9: 8,001,467 (GRCm39)	Y173C	probably damaging	Het
Zc3h7b	A	T	15: 81,677,055 (GRCm39)	I821F	probably benign	Het
Zftraf1	A	T	15: 76,532,391 (GRCm39)	I239N	probably damaging	Het

Other mutations in Gm3486

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0227:Gm3486	UTSW	14	41,206,518 (GRCm39)	missense	probably benign	0.23
R1731:Gm3486	UTSW	14	41,206,492 (GRCm39)	missense	probably benign	0.00
R4157:Gm3486	UTSW	14	41,208,343 (GRCm39)	missense	probably benign	0.24
R6248:Gm3486	UTSW	14	41,206,472 (GRCm39)	makesense	probably null
R6858:Gm3486	UTSW	14	41,210,322 (GRCm39)	missense	probably damaging	0.98
R6945:Gm3486	UTSW	14	41,206,518 (GRCm39)	missense	probably benign	0.03
R8470:Gm3486	UTSW	14	41,206,538 (GRCm39)	critical splice acceptor site	probably null
R8554:Gm3486	UTSW	14	41,209,119 (GRCm39)	missense	probably damaging	1.00
R9283:Gm3486	UTSW	14	41,210,268 (GRCm39)	missense	possibly damaging	0.80
R9352:Gm3486	UTSW	14	41,208,318 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CCCCTGATGCTTCATTGAGC -3'
(R):5'- TCAGTGGTTTCAGAAGTACCTTGG -3'

Sequencing Primer
(F):5'- GATGCTTCATTGAGCCTACCTG -3'
(R):5'- AGAAGTACCTTGGGTGTTCTGGAAAG -3'

Posted On

2018-10-17