Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01641:Gm8220'

93169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm8220

Ensembl Gene

ENSMUSG00000091725

Gene Name

predicted gene 8220

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

IGL01641

Quality Score

Status

Chromosome

Chromosomal Location

44523037-44528525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44525628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 14 (H14L)

Ref Sequence

ENSEMBL: ENSMUSP00000136414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169601] [ENSMUST00000177877]

AlphaFold

L7N2B0

Predicted Effect

probably benign
Transcript: ENSMUST00000164663

SMART Domains

Protein: ENSMUSP00000131482
Gene: ENSMUSG00000091725

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	3e-27	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169601

SMART Domains

Protein: ENSMUSP00000129002
Gene: ENSMUSG00000091725

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	130	2.6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177877
AA Change: H14L

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136414
Gene: ENSMUSG00000091725
AA Change: H14L

Domain	Start	End	E-Value	Type
Pfam:Takusan	7	46	4.4e-8	PFAM
coiled coil region	73	95	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228838

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora1	A	G	1: 134,161,852 (GRCm39)	L81P	probably damaging	Het
Agl	C	A	3: 116,578,104 (GRCm39)	E537*	probably null	Het
Bpifb4	A	G	2: 153,784,601 (GRCm39)	Y103C	possibly damaging	Het
Cobl	T	A	11: 12,259,641 (GRCm39)	K375*	probably null	Het
Crisp4	C	A	1: 18,194,514 (GRCm39)	A160S	possibly damaging	Het
Foxs1	T	C	2: 152,774,232 (GRCm39)	T274A	probably benign	Het
Irak3	T	C	10: 120,012,252 (GRCm39)	I171V	probably benign	Het
Itih2	A	G	2: 10,115,250 (GRCm39)	I374T	probably benign	Het
Or4c10b	G	A	2: 89,711,952 (GRCm39)	A261T	probably benign	Het
Pcbp2	A	G	15: 102,382,575 (GRCm39)	S27G	probably damaging	Het
Pcbp3	T	A	10: 76,603,691 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,950,000 (GRCm39)		probably benign	Het
Prickle1	A	T	15: 93,398,453 (GRCm39)	F792I	probably benign	Het
Ube2u	A	G	4: 100,338,854 (GRCm39)	I40V	probably benign	Het
Vmn2r1	A	G	3: 64,011,924 (GRCm39)	E595G	probably benign	Het

Other mutations in Gm8220

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02998:Gm8220	APN	14	44,525,765 (GRCm39)	critical splice donor site	probably null
IGL03251:Gm8220	APN	14	44,525,729 (GRCm39)	missense	possibly damaging	0.71
R0845:Gm8220	UTSW	14	44,524,248 (GRCm39)	missense	probably damaging	1.00
R4066:Gm8220	UTSW	14	44,523,095 (GRCm39)	nonsense	probably null
R4743:Gm8220	UTSW	14	44,523,152 (GRCm39)	unclassified	probably benign
R5349:Gm8220	UTSW	14	44,525,634 (GRCm39)	missense	probably benign	0.07
R6394:Gm8220	UTSW	14	44,523,134 (GRCm39)	unclassified	probably benign
R6932:Gm8220	UTSW	14	44,525,645 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09