Mutagenetix > Incidental Mutation

Incidental Mutation 'R2936:Gm16503'

255019

Institutional Source

Beutler Lab

Gene Symbol

Gm16503

Ensembl Gene

ENSMUSG00000078160

Gene Name

predicted gene 16503

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R2936 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

147540218-147543500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147625704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 66 (D66G)

Ref Sequence

ENSEMBL: ENSMUSP00000100571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104964]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000104964
AA Change: D66G

SMART Domains

Protein: ENSMUSP00000100571
Gene: ENSMUSG00000078160
AA Change: D66G

Domain	Start	End	E-Value	Type
low complexity region	48	63	N/A	INTRINSIC
low complexity region	86	97	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,601,519 (GRCm39)	M121K	probably damaging	Het
Cacybp	A	T	1: 160,035,947 (GRCm39)		probably null	Het
Cd6	T	C	19: 10,773,686 (GRCm39)		probably null	Het
Cep162	T	C	9: 87,109,467 (GRCm39)	T379A	probably benign	Het
Gaa	T	C	11: 119,174,550 (GRCm39)	V799A	probably benign	Het
Hspa9	T	C	18: 35,081,067 (GRCm39)	T205A	probably damaging	Het
Ihh	A	G	1: 74,985,705 (GRCm39)	I260T	probably damaging	Het
Jcad	T	A	18: 4,675,153 (GRCm39)	Y972N	probably benign	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Mmp12	A	G	9: 7,357,819 (GRCm39)	Q341R	probably benign	Het
Nup155	T	C	15: 8,172,533 (GRCm39)	S840P	possibly damaging	Het
Or4l15	A	T	14: 50,197,611 (GRCm39)	V306E	probably benign	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Pde5a	A	G	3: 122,587,968 (GRCm39)	E378G	probably damaging	Het
Rad54l	T	C	4: 115,980,076 (GRCm39)		probably benign	Het
Stbd1	C	T	5: 92,751,119 (GRCm39)	P51L	possibly damaging	Het
Tent4a	G	A	13: 69,650,446 (GRCm39)	T621I	possibly damaging	Het
Tnfaip3	A	G	10: 18,887,357 (GRCm39)	F56S	probably damaging	Het
Tnr	A	C	1: 159,715,932 (GRCm39)	Y898S	probably damaging	Het
Trav6n-6	A	G	14: 53,370,341 (GRCm39)	T31A	probably benign	Het

Other mutations in Gm16503

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL03291:Gm16503	APN	4	147,625,535 (GRCm39)	missense	unknown
FR4737:Gm16503	UTSW	4	147,625,710 (GRCm39)	missense	unknown
FR4976:Gm16503	UTSW	4	147,625,710 (GRCm39)	missense	unknown
R1916:Gm16503	UTSW	4	147,625,667 (GRCm39)	missense	unknown
R1983:Gm16503	UTSW	4	147,625,749 (GRCm39)	missense	unknown
R4226:Gm16503	UTSW	4	147,625,725 (GRCm39)	missense	unknown
R4765:Gm16503	UTSW	4	147,625,554 (GRCm39)	missense	unknown
R6249:Gm16503	UTSW	4	147,625,508 (GRCm39)	start codon destroyed	probably null
R8031:Gm16503	UTSW	4	147,625,767 (GRCm39)	missense	unknown
R9294:Gm16503	UTSW	4	147,625,571 (GRCm39)	missense	unknown
R9341:Gm16503	UTSW	4	147,625,508 (GRCm39)	start codon destroyed	unknown
R9343:Gm16503	UTSW	4	147,625,508 (GRCm39)	start codon destroyed	unknown
Z1176:Gm16503	UTSW	4	147,625,613 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTGTTAAGGCATCTAAAAGCTTAC -3'
(R):5'- TCTGTGGACAGCTAGAAATGTC -3'

Sequencing Primer
(F):5'- GTTACAGAAACAATACTGCATGAGTC -3'
(R):5'- TCTTTACAGAGAGCTTCTAGACCCAG -3'

Posted On

2014-12-29