Mutagenetix > Incidental Mutations

Incidental Mutation 'R4305:Gm5155'

323996

Institutional Source

Beutler Lab

Gene Symbol

Gm5155

Ensembl Gene

ENSMUSG00000078793

Gene Name

predicted gene 5155

Synonyms

MMRRC Submission

041091-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17871768-17919024 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17905193 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 372 (Y372N)

Gene Model

predicted gene model for transcript(s):

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000072381

SMART Domains

Protein: ENSMUSP00000072218
Gene: ENSMUSG00000078793

Domain	Start	End	E-Value	Type
IG	40	141	2.27e-2	SMART
IG_like	160	261	2.73e1	SMART
IG_like	277	378	6.69e0	SMART
IG_like	397	498	4.07e1	SMART
IG_like	514	615	6.52e0	SMART
IG_like	634	735	1.05e1	SMART
IG	753	853	1.28e-1	SMART
IGc2	869	933	3.82e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165490
AA Change: Y372N

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130117
Gene: ENSMUSG00000078793
AA Change: Y372N

Domain	Start	End	E-Value	Type
IG	40	141	2.94e-1	SMART
IG_like	160	261	2.73e1	SMART
IG_like	277	378	6.69e0	SMART
IG_like	397	498	4.07e1	SMART
IG_like	514	615	6.52e0	SMART
IG_like	634	735	1.05e1	SMART
IG	753	853	1.28e-1	SMART
IGc2	869	933	3.82e-9	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (36/39)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 11,972,076	S440*	probably null	Het
Abl2	T	A	1: 156,641,563	M695K	probably damaging	Het
Asap2	T	C	12: 21,229,481	I426T	probably damaging	Het
Atxn7l1	T	C	12: 33,341,992	M93T	probably damaging	Het
Ccr5	T	C	9: 124,125,074	L238P	possibly damaging	Het
Cd27	A	G	6: 125,234,670	V98A	probably benign	Het
Chrdl2	A	G	7: 100,022,022	T116A	probably damaging	Het
Epha6	T	C	16: 60,526,520		probably null	Het
Fam71f1	A	G	6: 29,326,612	S243G	probably damaging	Het
Gart	T	C	16: 91,633,992	E394G	possibly damaging	Het
Gm7173	C	G	X: 79,498,029	K469N	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lpar6	G	A	14: 73,238,941	R114Q	probably damaging	Het
Med23	G	T	10: 24,904,270	E573*	probably null	Het
Mtch2	A	G	2: 90,859,483	I183V	probably benign	Het
Nlrp3	C	T	11: 59,548,010	R138*	probably null	Het
Notch1	T	C	2: 26,477,924	D657G	probably damaging	Het
Olfr1281	A	G	2: 111,329,298	D293G	probably null	Het
Rbm20	A	G	19: 53,843,260	S642G	probably damaging	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Ttn	T	C	2: 76,918,337	S4123G	probably benign	Het
Ugt3a1	A	C	15: 9,306,274	S170R	possibly damaging	Het
Vmn2r71	G	T	7: 85,624,152	D725Y	probably damaging	Het
Vps9d1	G	T	8: 123,248,237		probably benign	Het
Yeats2	A	G	16: 20,208,422	T808A	probably damaging	Het
Zdhhc4	C	T	5: 143,324,344		probably benign	Het

Other mutations in Gm5155

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Gm5155	APN	7	17910697	missense	probably benign	0.32
IGL01085:Gm5155	APN	7	17915691	missense	possibly damaging	0.71
IGL01135:Gm5155	APN	7	17902471	exon	noncoding transcript
IGL01291:Gm5155	APN	7	17905116	exon	noncoding transcript
IGL02252:Gm5155	APN	7	17910532	missense	possibly damaging	0.93
IGL03243:Gm5155	APN	7	17918649	exon	noncoding transcript
R0113:Gm5155	UTSW	7	17908948	exon	noncoding transcript
R0833:Gm5155	UTSW	7	17904981	missense	possibly damaging	0.95
R0836:Gm5155	UTSW	7	17904981	missense	possibly damaging	0.95
R1462:Gm5155	UTSW	7	17915591	exon	noncoding transcript
R1473:Gm5155	UTSW	7	17905091	exon	noncoding transcript
R1817:Gm5155	UTSW	7	17873330	exon	noncoding transcript
R1905:Gm5155	UTSW	7	17873552	exon	noncoding transcript
R2362:Gm5155	UTSW	7	17902473	exon	noncoding transcript
R3721:Gm5155	UTSW	7	17902738	missense	probably benign	0.41
R4567:Gm5155	UTSW	7	17908966	missense	probably damaging	0.97
R4587:Gm5155	UTSW	7	17886224	missense	possibly damaging	0.47
R4691:Gm5155	UTSW	7	17908966	missense	possibly damaging	0.93
R4989:Gm5155	UTSW	7	17905218	splice site	probably null
R5023:Gm5155	UTSW	7	17902706	missense	probably damaging	1.00
R5024:Gm5155	UTSW	7	17910682	missense	probably benign	0.06
R5274:Gm5155	UTSW	7	17915717	splice site	probably null
R5279:Gm5155	UTSW	7	17873289	splice site	noncoding transcript
R5304:Gm5155	UTSW	7	17902692	missense	probably benign	0.06
R5312:Gm5155	UTSW	7	17909142	missense	probably damaging	1.00
R5899:Gm5155	UTSW	7	17917444	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CACAATTTGCCTGAAGACTTTCAAG -3'
(R):5'- AAGCCCCAACATGGAGTTAC -3'

Sequencing Primer
(F):5'- GCATTTTTCTGGTACAAATCAGC -3'
(R):5'- CAACAGAGAGGGAGTTTGTCTACTC -3'

Posted On

2015-06-24