Mutagenetix > Incidental Mutation

Incidental Mutation 'R3691:Gm3248'

353154

Institutional Source

Beutler Lab

Gene Symbol

Gm3248

Ensembl Gene

ENSMUSG00000091275

Gene Name

predicted gene 3248

Synonyms

MMRRC Submission

040686-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R3691 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

16508028-16530548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5943068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 161 (I161T)

Ref Sequence

ENSEMBL: ENSMUSP00000131346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163885]

AlphaFold

K7N721

Predicted Effect

probably damaging
Transcript: ENSMUST00000163885
AA Change: I161T

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131346
Gene: ENSMUSG00000091275
AA Change: I161T

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	9.3e-23	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,108,671 (GRCm39)	E1398G	probably damaging	Het
Avl9	C	T	6: 56,713,812 (GRCm39)	H357Y	probably benign	Het
Best2	A	G	8: 85,737,883 (GRCm39)	F171L	probably benign	Het
Btbd19	A	T	4: 116,977,789 (GRCm39)		probably benign	Het
Cap1	A	G	4: 122,758,419 (GRCm39)	S254P	probably damaging	Het
Cfap43	G	A	19: 47,885,512 (GRCm39)	L368F	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cog3	T	C	14: 75,991,878 (GRCm39)	M1V	probably null	Het
Drosha	G	A	15: 12,834,724 (GRCm39)	R276H	unknown	Het
Efr3b	T	A	12: 4,032,059 (GRCm39)	D183V	possibly damaging	Het
Epha1	T	C	6: 42,338,064 (GRCm39)	T794A	probably damaging	Het
Fbxo17	G	A	7: 28,436,887 (GRCm39)	V281I	probably damaging	Het
Flii	T	C	11: 60,610,583 (GRCm39)	Y571C	probably benign	Het
Flywch1	G	A	17: 23,982,186 (GRCm39)	P6L	probably damaging	Het
Foxj3	T	C	4: 119,473,839 (GRCm39)		probably benign	Het
Fras1	C	T	5: 96,929,371 (GRCm39)	T3925I	probably benign	Het
Gk5	T	C	9: 96,011,149 (GRCm39)		probably null	Het
Gm12588	T	G	11: 121,796,751 (GRCm39)	Q366P	possibly damaging	Het
Gzmg	T	A	14: 56,395,134 (GRCm39)		probably benign	Het
Lrrc69	A	T	4: 14,795,980 (GRCm39)	N22K	possibly damaging	Het
Med13l	A	G	5: 118,859,562 (GRCm39)	R250G	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mxi1	T	C	19: 53,358,062 (GRCm39)	L73P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Napb	T	C	2: 148,544,977 (GRCm39)		probably null	Het
Nsun2	A	G	13: 69,760,456 (GRCm39)	N45D	probably damaging	Het
Or10ag2	T	C	2: 87,248,514 (GRCm39)	F39L	probably benign	Het
Oxct1	A	G	15: 4,076,999 (GRCm39)	M111V	probably benign	Het
Pcnx4	A	G	12: 72,620,493 (GRCm39)	D771G	probably damaging	Het
Serpina6	T	C	12: 103,620,668 (GRCm39)	D27G	probably benign	Het
Tecpr1	A	G	5: 144,146,797 (GRCm39)	F523S	probably benign	Het
Zan	A	G	5: 137,418,281 (GRCm39)	I2939T	unknown	Het
Zfc3h1	A	G	10: 115,256,595 (GRCm39)	T1522A	probably benign	Het

Other mutations in Gm3248

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Gm3248	APN	14	5,943,928 (GRCm38)	missense	probably benign	0.14
IGL02302:Gm3248	APN	14	5,943,011 (GRCm38)	missense	probably benign	0.06
IGL02727:Gm3248	APN	14	5,945,036 (GRCm38)	missense	probably damaging	1.00
IGL02817:Gm3248	APN	14	5,945,825 (GRCm38)	missense	probably benign	0.01
R4790:Gm3248	UTSW	14	5,945,831 (GRCm38)	missense	probably damaging	0.99
R7394:Gm3248	UTSW	14	5,945,781 (GRCm38)	critical splice donor site	probably null
R7806:Gm3248	UTSW	14	5,943,883 (GRCm38)	missense	probably benign
R8779:Gm3248	UTSW	14	5,943,869 (GRCm38)	missense	probably benign	0.19
R9670:Gm3248	UTSW	14	5,944,993 (GRCm38)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACATAGGTGAGTGCCTGGAG -3'
(R):5'- GCTGCTATGTAACTGTGGACTC -3'

Sequencing Primer
(F):5'- CCTGGAGAAGTTGGTGGACTATTAC -3'
(R):5'- CTGCTATGTAACTGTGGACTCTTCTG -3'

Posted On

2015-10-13