Mutagenetix > Incidental Mutations

Incidental Mutation 'R3721:Gm5155'

258907

Institutional Source

Beutler Lab

Gene Symbol

Gm5155

Ensembl Gene

ENSMUSG00000078793

Gene Name

predicted gene 5155

Synonyms

MMRRC Submission

040712-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17871768-17919024 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17902738 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 247 (T247A)

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: T247A

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130117
Gene: ENSMUSG00000078793
AA Change: T247A

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	T	C	2: 48,892,138	S228P	probably damaging	Het
Adamts2	C	T	11: 50,773,211		probably benign	Het
Arhgap9	A	G	10: 127,328,971	E588G	possibly damaging	Het
Ash2l	C	G	8: 25,818,625	G453A	probably damaging	Het
Catsperg2	A	G	7: 29,705,102	V638A	probably benign	Het
Ccrl2	T	C	9: 111,056,364	D22G	probably benign	Het
Cdc73	T	C	1: 143,695,453	I83V	possibly damaging	Het
Clec2e	C	A	6: 129,094,410	E155*	probably null	Het
Cyp3a59	T	A	5: 146,096,597	M181K	probably damaging	Het
Dars2	A	T	1: 161,063,308	V111E	probably benign	Het
Diras2	T	A	13: 52,508,023	I83F	probably damaging	Het
Dlg2	T	A	7: 91,711,800		probably null	Het
Dnaic1	G	A	4: 41,602,615	R113H	probably damaging	Het
Emilin2	T	C	17: 71,273,454	N759S	probably benign	Het
F11	A	G	8: 45,248,638	S353P	probably damaging	Het
Fam102b	C	T	3: 108,979,767	R305Q	probably damaging	Het
Ggnbp1	T	C	17: 27,029,613	V52A	probably benign	Het
Gpr171	A	G	3: 59,097,670	V228A	possibly damaging	Het
Gsta3	T	C	1: 21,260,089	M55T	probably benign	Het
Hectd3	T	A	4: 116,999,745	N496K	probably benign	Het
Hp1bp3	T	G	4: 138,239,608	F367V	probably damaging	Het
Il18rap	T	A	1: 40,537,088	L253Q	probably damaging	Het
Irs1	C	T	1: 82,290,085	G137S	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lair1	A	C	7: 4,010,783	L155R	probably damaging	Het
Larp7	A	G	3: 127,546,811	L126P	probably damaging	Het
Lhx1	G	A	11: 84,521,828	R89C	probably damaging	Het
Lypd4	C	A	7: 24,865,459	A85S	probably benign	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Myh10	G	T	11: 68,813,052	R1863L	probably damaging	Het
Myo9a	G	A	9: 59,868,180	V1025I	probably benign	Het
Naa25	T	A	5: 121,431,556	D659E	probably benign	Het
Nol9	A	G	4: 152,039,706	S118G	probably benign	Het
Olfr497	G	T	7: 108,423,119	D183Y	probably damaging	Het
Olfr730	C	T	14: 50,186,680	C179Y	probably damaging	Het
Pde10a	T	A	17: 8,969,589	I907N	probably damaging	Het
Pkhd1	T	C	1: 20,585,655	D218G	probably benign	Het
Poll	A	G	19: 45,553,577	I430T	probably damaging	Het
Pomgnt1	T	G	4: 116,153,543		probably benign	Het
Rab6b	T	C	9: 103,167,174		probably null	Het
Rad1	T	C	15: 10,488,026	S79P	probably benign	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Rcc1	T	C	4: 132,337,814	K133E	possibly damaging	Het
Ric8a	T	C	7: 140,861,961		probably null	Het
Rnf135	G	T	11: 80,196,917	A231S	probably benign	Het
Rps6ka4	A	G	19: 6,839,277	V146A	possibly damaging	Het
Sh3bp4	A	G	1: 89,145,328	I633V	possibly damaging	Het
Slc2a2	T	A	3: 28,727,152	N446K	probably damaging	Het
Slc44a1	T	C	4: 53,491,445	Y61H	probably damaging	Het
Slc7a1	G	A	5: 148,335,533	R445*	probably null	Het
Smc5	T	C	19: 23,210,492	M911V	probably benign	Het
Sntb1	C	A	15: 55,642,818	R453L	probably benign	Het
Spink4	T	A	4: 40,929,136	C54S	probably damaging	Het
Srrm2	CTCCTCTTCTTCCTCTTCTTCCTC	CTCCTCTTCTTCCTC	17: 23,822,575		probably benign	Het
Trpm1	T	G	7: 64,217,727		probably benign	Het
Tufm	T	C	7: 126,490,460	M442T	probably benign	Het
Ubn1	A	G	16: 5,073,378	N539S	possibly damaging	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
R4305:Gm5155	UTSW	7	17905193	missense	probably benign	0.19
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'- CACCATTGAATCAGTGCCTCC -3'
(R):5'- TCACTATGTGTATTCTGCACTAAGTGC -3'

Sequencing Primer
(F):5'- TCCCTTTTCTGGTACAAAGGAG -3'
(R):5'- CTTAAAGCATGGCATGGGGAC -3'

Posted On

2015-01-23