Mutagenetix > Incidental Mutation

Incidental Mutation 'R1211:Gm10160'

100689

Institutional Source

Beutler Lab

Gene Symbol

Gm10160

Ensembl Gene

ENSMUSG00000066378

Gene Name

predicted gene 10160

Synonyms

MMRRC Submission

039280-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1211 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

81505281-81505542 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81505497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 16 (Y16N)

Ref Sequence

ENSEMBL: ENSMUSP00000082175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041890] [ENSMUST00000085094] [ENSMUST00000126334]

AlphaFold

F6Y577

Predicted Effect

probably benign
Transcript: ENSMUST00000041890

SMART Domains

Protein: ENSMUSP00000038017
Gene: ENSMUSG00000038623

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC
transmembrane domain	63	82	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	167	189	N/A	INTRINSIC
Pfam:DUF2781	217	356	6.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085094
AA Change: Y16N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124616

Predicted Effect

probably benign
Transcript: ENSMUST00000126334

SMART Domains

Protein: ENSMUSP00000121292
Gene: ENSMUSG00000038623

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC
transmembrane domain	63	82	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207657

Coding Region Coverage

1x: 99.3%
3x: 98.2%
10x: 95.3%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	T	C	5: 50,164,218 (GRCm39)	M254V	possibly damaging	Het
Arrdc3	A	G	13: 81,038,817 (GRCm39)	T40A	possibly damaging	Het
Cntnap1	C	A	11: 101,075,536 (GRCm39)	Q905K	probably damaging	Het
Dclk1	A	G	3: 55,288,244 (GRCm39)	I256V	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Erlec1	A	G	11: 30,898,298 (GRCm39)		probably null	Het
Gm10608	C	CNNNNNNNN	9: 118,989,780 (GRCm39)		probably null	Het
H2-T13	A	T	17: 36,391,965 (GRCm39)	V207D	probably damaging	Het
Kcna4	AGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGG	2: 107,125,660 (GRCm39)		probably benign	Het
Mycbp2	A	T	14: 103,357,999 (GRCm39)	D4488E	probably benign	Het
Ndufaf1	A	G	2: 119,486,156 (GRCm39)	S319P	probably damaging	Het
Or5h25	A	C	16: 58,930,523 (GRCm39)	V150G	possibly damaging	Het
Smad4	T	C	18: 73,782,982 (GRCm39)		probably null	Het
Spaca7	T	C	8: 12,623,139 (GRCm39)	S12P	probably damaging	Het
Stx11	A	G	10: 12,817,155 (GRCm39)	S190P	probably damaging	Het

Predicted Primers

PCR Primer
(F):5'- TTGCCACAGTGTATCCCACAGAAC -3'
(R):5'- TGACCCAGAGCCTCACTCAACTTAG -3'

Sequencing Primer
(F):5'- cctcctcctcctcctcctc -3'
(R):5'- TTTGAGAGAGGGACAAATTCTGC -3'

Posted On

2014-01-15