Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01085:Gm5155'

51483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5155

Ensembl Gene

ENSMUSG00000078793

Gene Name

predicted gene 5155

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01085

Quality Score

Status

Chromosome

Chromosomal Location

17871768-17919024 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17915691 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 729 (H729L)

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

possibly damaging
Transcript: ENSMUST00000165490
AA Change: H729L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130117
Gene: ENSMUSG00000078793
AA Change: H729L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 60,037,342		probably benign	Het
Acp7	T	C	7: 28,611,053	Y453C	probably damaging	Het
Bop1	T	C	15: 76,453,376	D683G	probably damaging	Het
Cacna1b	G	T	2: 24,678,994	R974S	probably damaging	Het
Cenpt	T	C	8: 105,846,665	E350G	possibly damaging	Het
Cep112	G	T	11: 108,486,606	R270L	probably damaging	Het
Crem	T	C	18: 3,299,236	T26A	probably damaging	Het
Crot	T	C	5: 8,973,955	H387R	probably damaging	Het
Fdxr	A	T	11: 115,269,576	V351E	probably benign	Het
Fkbpl	T	C	17: 34,645,744	L162P	probably damaging	Het
Fmn2	T	A	1: 174,695,654	N1358K	probably damaging	Het
Hectd4	G	T	5: 121,331,701	G2553V	probably damaging	Het
Ifna16	A	T	4: 88,676,732	I42K	probably benign	Het
Igfals	C	T	17: 24,881,660	T575I	probably benign	Het
Il6	G	T	5: 30,013,489	V28F	probably damaging	Het
Irx1	A	G	13: 71,959,697	S289P	probably benign	Het
Ncoa2	T	C	1: 13,149,079	T1245A	possibly damaging	Het
Nr3c2	G	T	8: 76,908,354	R28L	probably benign	Het
Nudt5	G	A	2: 5,864,427	V155I	probably benign	Het
Olfr12	G	T	1: 92,620,199	V98F	possibly damaging	Het
Pcm1	T	C	8: 41,309,603	S1395P	probably damaging	Het
Pkhd1l1	G	A	15: 44,562,752		probably null	Het
Prodh	A	T	16: 18,076,344	V339E	probably damaging	Het
Rbm48	C	T	5: 3,584,762	V401M	probably benign	Het
Retreg3	G	A	11: 101,100,925	Q61*	probably null	Het
Rif1	A	G	2: 52,085,140	M354V	possibly damaging	Het
Rrn3	G	A	16: 13,809,062	V507M	probably damaging	Het
Safb2	T	A	17: 56,565,242	R197*	probably null	Het
Slc22a26	A	G	19: 7,790,099	V314A	probably benign	Het
Slfnl1	G	T	4: 120,533,356	R68L	probably damaging	Het
Spata1	G	T	3: 146,476,242	Q10K	possibly damaging	Het
Swi5	T	C	2: 32,280,727	M95V	possibly damaging	Het
Thpo	T	C	16: 20,728,455	D52G	probably damaging	Het
Tmem101	A	T	11: 102,154,660	L121Q	probably damaging	Het
Trim40	T	C	17: 36,883,241	I187V	probably benign	Het
Usp33	A	G	3: 152,368,569	K351E	possibly damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vcan	T	C	13: 89,679,958	D2163G	probably damaging	Het
Wnt7a	C	T	6: 91,408,789	V61I	probably benign	Het
Zfp804b	A	G	5: 6,770,931	S675P	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
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
R5312:Gm5155	UTSW	7	17909142	missense	probably damaging	1.00
R5899:Gm5155	UTSW	7	17917444	missense	possibly damaging	0.92

Posted On

2013-06-21