Mutagenetix > Incidental Mutations

Incidental Mutation 'R4567:Gm5155'

343345

Institutional Source

Beutler Lab

Gene Symbol

Gm5155

Ensembl Gene

ENSMUSG00000078793

Gene Name

predicted gene 5155

Synonyms

MMRRC Submission

041791-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4567 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17871768-17919024 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17908966 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 434 (S434P)

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 damaging
Transcript: ENSMUST00000165490
AA Change: S434P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130117
Gene: ENSMUSG00000078793
AA Change: S434P

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (38/40)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	C	1: 26,683,117	D994G	probably benign	Het
Abhd16a	T	A	17: 35,096,523	L182Q	probably damaging	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Alg12	T	C	15: 88,806,353		probably benign	Het
Asmt	A	G	X: 170,676,526		probably null	Het
Atp10b	T	C	11: 43,197,557	I330T	probably benign	Het
Dennd5a	T	C	7: 109,899,735	M998V	probably benign	Het
Erbb3	A	G	10: 128,579,075	S401P	probably damaging	Het
Gm10718	A	T	9: 3,023,716	T56S	probably benign	Het
Gm1527	A	T	3: 28,914,407	N203Y	probably damaging	Het
Gm6904	A	T	14: 59,251,178	Y57N	probably damaging	Het
Hsf2bp	C	T	17: 31,946,734	V296M	probably benign	Het
Htr1d	T	A	4: 136,443,525	V355E	probably benign	Het
Ints11	T	C	4: 155,885,675	V203A	probably damaging	Het
Iqsec3	A	G	6: 121,387,762	V856A	probably damaging	Het
Olfr1371	T	C	11: 52,213,464	H175R	probably damaging	Het
Olfr141	A	G	2: 86,806,802	S66P	probably damaging	Het
Olfr694	G	A	7: 106,689,213	Q173*	probably null	Het
Pdzd3	C	A	9: 44,249,026	V294L	possibly damaging	Het
Ppfia2	G	A	10: 106,865,406		probably null	Het
Prss23	T	A	7: 89,510,866		probably benign	Het
Rasl2-9	AGG	A	7: 5,125,375		probably null	Het
Rcn2	A	T	9: 56,052,982	I178F	probably benign	Het
Rtn1	C	T	12: 72,212,487		probably benign	Het
Sik2	A	G	9: 50,998,576	V59A	probably damaging	Het
Slc25a42	A	T	8: 70,188,854	M159K	probably damaging	Het
Slc9a4	T	C	1: 40,580,577	L21P	probably damaging	Het
Smap2	A	C	4: 120,985,311	W41G	probably damaging	Het
Sox6	T	C	7: 115,662,322	I220V	probably benign	Het
Syt17	A	G	7: 118,434,272	V171A	probably benign	Het
Tjp1	A	G	7: 65,306,501	F1332S	probably damaging	Het
Trim3	C	T	7: 105,613,416	V512I	possibly damaging	Het
Uhmk1	G	A	1: 170,205,117	Q282*	probably null	Het
Ushbp1	G	A	8: 71,385,717	R648W	probably 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
R3721:Gm5155	UTSW	7	17902738	missense	probably benign	0.41
R4305:Gm5155	UTSW	7	17905193	missense	probably benign	0.19
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'- TAGGCTGTACAATGAGCACTCCTC -3'
(R):5'- TCCAGCTGGAGTTGCACATG -3'

Sequencing Primer
(F):5'- TCAGGACACAGGGCCTCATC -3'
(R):5'- ACATGTGCTATTTCATCTTTCAGATC -3'

Posted On

2015-09-24