Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00401:Gm10220'

6468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10220

Ensembl Gene

ENSMUSG00000067698

Gene Name

predicted gene 10220

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.437) question?

Stock #

IGL00401

Quality Score

Status

Chromosome

Chromosomal Location

26319762-26326419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26323609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 146 (F146Y)

Ref Sequence

ENSEMBL: ENSMUSP00000085569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088236]

AlphaFold

K7N660

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088236
AA Change: F146Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085569
Gene: ENSMUSG00000067698
AA Change: F146Y

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1.6e-25	PFAM
low complexity region	235	259	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	T	A	17: 72,202,743 (GRCm39)	D1164V	probably damaging	Het
Baiap3	T	G	17: 25,463,302 (GRCm39)	L964F	probably damaging	Het
Cacna2d2	T	A	9: 107,392,072 (GRCm39)	V471E	probably damaging	Het
Carmil3	C	T	14: 55,735,755 (GRCm39)	T569M	probably damaging	Het
Dapk2	G	T	9: 66,176,060 (GRCm39)		probably benign	Het
Eps15l1	A	T	8: 73,138,682 (GRCm39)	Y291*	probably null	Het
Fancd2	T	C	6: 113,541,357 (GRCm39)		probably null	Het
Fmnl2	T	G	2: 53,004,929 (GRCm39)	D674E	probably damaging	Het
Foxq1	A	T	13: 31,743,260 (GRCm39)	I121F	probably damaging	Het
Galnt13	C	T	2: 54,406,547 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,389,782 (GRCm39)		probably benign	Het
Gm7353	A	G	7: 3,160,630 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,071,633 (GRCm39)		probably benign	Het
Kptn	A	G	7: 15,854,050 (GRCm39)	D56G	possibly damaging	Het
Krtap4-13	A	T	11: 99,700,543 (GRCm39)	C39S	unknown	Het
Lgsn	A	G	1: 31,242,647 (GRCm39)	K243R	possibly damaging	Het
Lyz2	C	T	10: 117,118,090 (GRCm39)	V20I	probably benign	Het
Mettl3	T	A	14: 52,534,424 (GRCm39)		probably benign	Het
Myh6	T	A	14: 55,190,874 (GRCm39)	M934L	probably benign	Het
Nmnat2	A	G	1: 152,969,863 (GRCm39)		probably null	Het
Pias2	T	A	18: 77,220,907 (GRCm39)	C381S	probably damaging	Het
Psme4	T	C	11: 30,771,079 (GRCm39)		probably benign	Het
Smc4	T	A	3: 68,937,712 (GRCm39)	D887E	probably damaging	Het
Sorcs2	C	A	5: 36,194,745 (GRCm39)		probably null	Het
Tet2	T	C	3: 133,172,643 (GRCm39)	E1873G	possibly damaging	Het
Txlng	T	A	X: 161,565,305 (GRCm39)	K341*	probably null	Het
Ugt2b37	T	A	5: 87,390,340 (GRCm39)	T369S	possibly damaging	Het
Usp46	C	A	5: 74,163,832 (GRCm39)	V302F	probably damaging	Het
Zfp292	A	G	4: 34,808,683 (GRCm39)	C1454R	probably benign	Het

Other mutations in Gm10220

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Gm10220	APN	5	26,322,021 (GRCm39)	missense	probably damaging	1.00
IGL03194:Gm10220	APN	5	26,326,231 (GRCm39)	missense	probably damaging	1.00
IGL03218:Gm10220	APN	5	26,323,696 (GRCm39)	missense	probably damaging	0.99
IGL03255:Gm10220	APN	5	26,321,899 (GRCm39)	missense	possibly damaging	0.93
R3014:Gm10220	UTSW	5	26,322,826 (GRCm39)	missense	probably damaging	0.99
R3883:Gm10220	UTSW	5	26,321,908 (GRCm39)	missense	possibly damaging	0.70
R4577:Gm10220	UTSW	5	26,322,869 (GRCm39)	missense	probably benign
R5484:Gm10220	UTSW	5	26,322,930 (GRCm39)	missense	possibly damaging	0.59
R6358:Gm10220	UTSW	5	26,325,303 (GRCm39)	splice site	probably null
R8300:Gm10220	UTSW	5	26,322,818 (GRCm39)	missense	probably damaging	0.99
R8871:Gm10220	UTSW	5	26,322,863 (GRCm39)	missense	probably benign	0.01

Posted On

2012-04-20