Mutagenetix > Incidental Mutation

Incidental Mutation 'P0041:Gm9900'

15536

Institutional Source

Beutler Lab

Gene Symbol

Gm9900

Ensembl Gene

Gene Name

predicted gene 9900

Synonyms

MMRRC Submission

038289-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

P0041 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58218547-58221165 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58220409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 63 (Y63*)

Ref Sequence

ENSEMBL: ENSMUSP00000070680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065533] [ENSMUST00000073128] [ENSMUST00000116376] [ENSMUST00000186859]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000065533
AA Change: Y63*

Predicted Effect

probably benign
Transcript: ENSMUST00000073128

SMART Domains

Protein: ENSMUSP00000072872
Gene: ENSMUSG00000013646

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
Pfam:SH3BP5	52	289	1.3e-103	PFAM
low complexity region	296	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116376

SMART Domains

Protein: ENSMUSP00000112077
Gene: ENSMUSG00000013646

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
Pfam:SH3BP5	54	280	2.5e-97	PFAM
low complexity region	296	337	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185661

Predicted Effect

probably benign
Transcript: ENSMUST00000186859

SMART Domains

Protein: ENSMUSP00000140236
Gene: ENSMUSG00000049755

Domain	Start	End	E-Value	Type
ZnF_C2H2	15	37	1.8e-5	SMART
ZnF_C2H2	43	65	3.6e-2	SMART
ZnF_C2H2	71	90	6.1e-1	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 86.7%
3x: 79.7%
10x: 43.1%
20x: 3.5%

Validation Efficiency

96% (69/72)

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap1	A	G	2: 91,499,738 (GRCm39)	E291G	probably benign	Het
Atg5	A	C	10: 44,165,938 (GRCm39)	E63A	probably benign	Het
Clec4b2	A	G	6: 123,158,253 (GRCm39)	T40A	possibly damaging	Het
Colgalt1	A	G	8: 72,075,434 (GRCm39)	M447V	probably benign	Het
Dnai3	G	A	3: 145,786,997 (GRCm39)	S346F	possibly damaging	Het
Enpep	T	C	3: 129,125,847 (GRCm39)	D95G	possibly damaging	Het
Epha3	C	A	16: 63,433,231 (GRCm39)	E170D	probably damaging	Het
Gtf2i	C	T	5: 134,273,742 (GRCm39)		probably benign	Het
Klhl1	T	A	14: 96,517,647 (GRCm39)	N343I	probably damaging	Het
Large2	A	G	2: 92,197,599 (GRCm39)		probably benign	Het
Mobp	G	A	9: 119,997,083 (GRCm39)		probably benign	Het
Nek10	A	T	14: 14,861,603 (GRCm38)	H553L	probably benign	Het
Nploc4	A	T	11: 120,309,157 (GRCm39)	D148E	probably damaging	Het
Or1n1	T	C	2: 36,749,473 (GRCm39)	K296E	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,696 (GRCm39)	I406T	probably benign	Het
Slc9c1	T	A	16: 45,370,524 (GRCm39)	M255K	possibly damaging	Het
Synrg	C	T	11: 83,873,137 (GRCm39)		probably benign	Het
Trak2	A	G	1: 58,949,123 (GRCm39)	V559A	probably damaging	Het
Trpm3	A	G	19: 22,875,050 (GRCm39)	D552G	probably benign	Het

Posted On

2012-12-21