Mutagenetix > Incidental Mutations

Incidental Mutation 'R5312:Gm5155'

405646

Institutional Source

Beutler Lab

Gene Symbol

Gm5155

Ensembl Gene

ENSMUSG00000078793

Gene Name

predicted gene 5155

Synonyms

MMRRC Submission

042895-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5312 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17871768-17919024 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 17909142 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 492 (H492Q)

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: H492Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130117
Gene: ENSMUSG00000078793
AA Change: H492Q

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,813,576	I629T	probably damaging	Het
Abca15	T	C	7: 120,345,369	V409A	probably damaging	Het
Abtb1	A	G	6: 88,838,258	F297L	probably damaging	Het
Adam22	C	A	5: 8,090,182	G202W	probably damaging	Het
Adgrg3	G	A	8: 95,039,864	V388I	probably benign	Het
Adnp	T	C	2: 168,184,188	T396A	probably benign	Het
Ank2	T	C	3: 126,959,768	Q288R	probably damaging	Het
Bdp1	T	C	13: 100,097,601		probably null	Het
Ccdc173	T	C	2: 69,787,258	T60A	possibly damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cntnap5c	A	T	17: 58,359,254	E1093V	probably benign	Het
Dmrta1	A	C	4: 89,692,047	N415H	probably damaging	Het
Dnaaf5	T	A	5: 139,152,862	V266E	probably damaging	Het
Dot1l	A	G	10: 80,784,637	Q511R	possibly damaging	Het
Ehmt1	A	G	2: 24,884,195	V201A	probably damaging	Het
Fancg	A	G	4: 43,003,019	F613L	probably benign	Het
Fbxo10	A	T	4: 45,042,036	I731N	possibly damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gm6614	A	T	6: 141,972,332	F606Y	probably benign	Het
Ighv1-74	A	G	12: 115,802,881	S39P	probably damaging	Het
Kbtbd11	A	G	8: 15,028,589	D396G	possibly damaging	Het
Klc1	A	G	12: 111,795,621	K575R	possibly damaging	Het
Lman1l	A	T	9: 57,611,077	L343Q	probably damaging	Het
Mki67	A	T	7: 135,700,830	V825E	probably damaging	Het
Mus81	T	C	19: 5,483,494	K489R	possibly damaging	Het
Myog	A	G	1: 134,290,326	K91E	probably damaging	Het
Nfil3	A	T	13: 52,967,620	V416E	probably damaging	Het
Nup160	G	T	2: 90,732,832	E1314*	probably null	Het
Nwd2	C	T	5: 63,806,072	Q1000*	probably null	Het
Olfr1277	T	G	2: 111,270,310	D19A	probably benign	Het
Olfr1284	T	C	2: 111,379,834	V278A	possibly damaging	Het
Olfr790	T	A	10: 129,501,514	V210E	probably damaging	Het
Olfr792	A	C	10: 129,541,265	M243L	probably benign	Het
Ppp4r4	T	A	12: 103,606,888		probably null	Het
Pramef25	A	T	4: 143,949,095	I387N	possibly damaging	Het
Psg27	C	A	7: 18,557,033	R415L	probably benign	Het
Ptprr	T	A	10: 116,188,419	S212T	probably benign	Het
Ramp3	T	C	11: 6,674,888	F61L	probably damaging	Het
Rap1gds1	A	G	3: 138,958,628	L322P	probably damaging	Het
Rnf5	A	G	17: 34,601,588	F175S	probably benign	Het
Sema4a	G	A	3: 88,437,036	S636F	probably damaging	Het
Sfrp2	A	G	3: 83,769,401	D193G	probably damaging	Het
Slc26a5	T	C	5: 21,847,260	S24G	probably damaging	Het
Spg21	A	G	9: 65,468,802	I31V	probably benign	Het
Tmem45a2	T	C	16: 57,039,007	D287G	possibly damaging	Het
Utrn	A	T	10: 12,727,769	D627E	probably damaging	Het
Vmn2r103	A	T	17: 19,793,034	N139I	probably benign	Het
Washc5	A	T	15: 59,345,528		probably null	Het
Zfp667	T	C	7: 6,305,467	I378T	probably benign	Het
Zfp949	A	C	9: 88,567,183	T14P	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
R3721:Gm5155	UTSW	7	17902738	missense	probably benign	0.41
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
R5899:Gm5155	UTSW	7	17917444	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ATCCCTTTTCTGGTACAAAGGTG -3'
(R):5'- AATCTGACCTAGGCCTGTTTG -3'

Sequencing Primer
(F):5'- TTGCAGAGGAGAAATCTGAGCTCATC -3'
(R):5'- CCTGTTTGGCTCTAACCTAAGTG -3'

Posted On

2016-07-22