Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02817:Gm3248'

360820

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm3248

Ensembl Gene

ENSMUSG00000091275

Gene Name

predicted gene 3248

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02817

Quality Score

Status

Chromosome

Chromosomal Location

16508028-16530548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5945825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 30 (S30P)

Ref Sequence

ENSEMBL: ENSMUSP00000131346 (fasta)

Gene Model

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

AlphaFold

K7N721

Predicted Effect

probably benign
Transcript: ENSMUST00000163885
AA Change: S30P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000131346
Gene: ENSMUSG00000091275
AA Change: S30P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	A	G	2: 34,990,661 (GRCm39)	V12A	probably damaging	Het
Ash1l	C	A	3: 88,892,108 (GRCm39)	P1329H	probably damaging	Het
Bpifb3	T	C	2: 153,761,566 (GRCm39)	V5A	unknown	Het
Cep350	A	G	1: 155,804,588 (GRCm39)	S832P	probably damaging	Het
Chd1	A	T	17: 15,969,762 (GRCm39)	H947L	possibly damaging	Het
Clec4b1	A	T	6: 123,045,444 (GRCm39)	H88L	possibly damaging	Het
Col4a1	A	G	8: 11,270,259 (GRCm39)	L859P	probably damaging	Het
Cyp2f2	T	A	7: 26,828,740 (GRCm39)	N203K	probably damaging	Het
Dgka	G	A	10: 128,566,097 (GRCm39)	T351I	probably benign	Het
Dmc1	G	A	15: 79,472,964 (GRCm39)	T161I	probably damaging	Het
Dnah8	A	G	17: 30,887,269 (GRCm39)	N688D	probably benign	Het
Dpy19l3	A	G	7: 35,392,233 (GRCm39)	L653P	probably damaging	Het
Drc3	A	G	11: 60,275,062 (GRCm39)	E341G	probably benign	Het
Fcrl5	T	G	3: 87,343,220 (GRCm39)	V10G	probably benign	Het
Fgfr4	T	C	13: 55,304,481 (GRCm39)		probably null	Het
Gli2	T	C	1: 118,764,101 (GRCm39)	H1350R	possibly damaging	Het
Grik4	T	C	9: 42,534,235 (GRCm39)	N349S	probably benign	Het
Ifnar2	G	T	16: 91,184,880 (GRCm39)	K90N	probably benign	Het
Kcp	A	T	6: 29,496,968 (GRCm39)	I547N	probably damaging	Het
L3mbtl4	A	T	17: 68,937,249 (GRCm39)	E423D	probably benign	Het
Mapkap1	T	C	2: 34,453,130 (GRCm39)	L341P	probably damaging	Het
Mdm1	A	G	10: 118,000,251 (GRCm39)	Q618R	possibly damaging	Het
Medag	A	T	5: 149,350,503 (GRCm39)	R51*	probably null	Het
Myo1f	G	A	17: 33,823,532 (GRCm39)	R1020K	probably benign	Het
Myrf	T	C	19: 10,202,816 (GRCm39)	N153D	probably benign	Het
Naf1	T	C	8: 67,336,177 (GRCm39)	I368T	probably damaging	Het
Nalf1	A	T	8: 9,257,994 (GRCm39)	C385S	probably damaging	Het
Ncapd2	A	G	6: 125,147,877 (GRCm39)		probably null	Het
Nsfl1c	T	A	2: 151,342,651 (GRCm39)	S74T	probably damaging	Het
Or2a51	A	T	6: 43,178,993 (GRCm39)	R138S	probably benign	Het
Or6c68	A	G	10: 129,157,764 (GRCm39)	T91A	probably benign	Het
Or8h7	T	C	2: 86,720,937 (GRCm39)	N194S	probably benign	Het
Ptgfrn	T	A	3: 100,968,068 (GRCm39)	E508D	probably benign	Het
Ryr3	C	A	2: 112,674,968 (GRCm39)		probably null	Het
Snx27	A	G	3: 94,410,770 (GRCm39)	L460P	probably damaging	Het
Sp4	G	T	12: 118,263,287 (GRCm39)	T253K	probably damaging	Het
Trio	T	C	15: 27,902,967 (GRCm39)	I165V	probably benign	Het
Txnl4b	A	G	8: 110,299,478 (GRCm39)	Y146C	probably damaging	Het
Vmn1r42	A	G	6: 89,822,518 (GRCm39)	M17T	probably damaging	Het
Zer1	T	C	2: 29,993,406 (GRCm39)	I567V	probably damaging	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
R3691:Gm3248	UTSW	14	5,943,068 (GRCm38)	missense	probably damaging	0.96
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

Posted On

2015-12-18