Mutagenetix > Incidental Mutation

Incidental Mutation 'R4691:Gm5155'

354907

Institutional Source

Beutler Lab

Gene Symbol

Gm5155

Ensembl Gene

ENSMUSG00000078793

Gene Name

predicted gene 5155

Synonyms

MMRRC Submission

041942-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4691 (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 17908966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 434 (S434T)

Gene Model

predicted gene model for transcript(s):

AlphaFold

A0A3Q4EGJ1

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: S434T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130117
Gene: ENSMUSG00000078793
AA Change: S434T

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abca13	A	T	11: 9,434,195	R3882S	probably damaging	Het
Adamts2	G	T	11: 50,756,696	V299F	probably damaging	Het
Ankrd50	A	G	3: 38,483,010	S65P	probably benign	Het
Ap4e1	T	C	2: 127,061,871	C898R	probably benign	Het
Arel1	A	T	12: 84,930,249		probably null	Het
Bag6	T	A	17: 35,139,248	V164D	probably damaging	Het
C2cd5	A	G	6: 143,030,148	S769P	possibly damaging	Het
Cables1	C	T	18: 11,840,523	Q240*	probably null	Het
Ccnb1-ps	T	A	7: 42,106,092		noncoding transcript	Het
Ccz1	A	T	5: 143,991,562	I390N	possibly damaging	Het
Ces1a	T	C	8: 93,032,659	H283R	probably benign	Het
Clca3b	G	A	3: 144,839,092	T378I	probably benign	Het
Cpne2	A	T	8: 94,558,221	I342F	probably damaging	Het
Cyp2d9	A	G	15: 82,455,832	D141G	probably damaging	Het
Ddias	T	A	7: 92,858,816	K630N	probably damaging	Het
Dennd4b	A	G	3: 90,272,312	T626A	probably damaging	Het
Disc1	T	C	8: 125,148,447	V554A	possibly damaging	Het
Dnah10	A	G	5: 124,775,517	T1880A	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Epop	C	T	11: 97,628,893	G130D	possibly damaging	Het
Erap1	T	C	13: 74,673,692	L722P	probably damaging	Het
Eya4	T	A	10: 23,140,068	T334S	probably benign	Het
Ezr	T	C	17: 6,759,562	I5V	probably benign	Het
Fam53c	A	C	18: 34,768,690	E220A	probably damaging	Het
Galnt12	T	C	4: 47,104,143	S134P	probably damaging	Het
Gcfc2	T	A	6: 81,941,427	L366*	probably null	Het
Gins4	T	A	8: 23,237,059	D6V	probably benign	Het
Gm1113	T	C	9: 35,516,862	S106G	possibly damaging	Het
Grid1	A	G	14: 35,569,557	H807R	probably benign	Het
H2-T22	GTTTT	GTTT	17: 36,041,570		probably null	Het
Ighv1-66	T	C	12: 115,593,309	Y51C	probably benign	Het
Inpp4b	A	T	8: 82,122,653	Y901F	probably damaging	Het
Irf2	T	A	8: 46,846,187	S339T	probably damaging	Het
Itgae	G	T	11: 73,119,519	G612*	probably null	Het
Kdr	T	C	5: 75,944,599	K1037R	possibly damaging	Het
Mro	A	T	18: 73,873,326	M115L	probably benign	Het
Myo5a	A	G	9: 75,180,156	E1098G	probably damaging	Het
Nkx2-1	T	A	12: 56,533,565	M197L	probably benign	Het
Olfr58	T	C	9: 19,783,382	I83T	probably benign	Het
Pank2	T	A	2: 131,296,281	F430L	possibly damaging	Het
Pcx	T	A	19: 4,619,477	V794E	probably damaging	Het
Pdgfd	C	T	9: 6,288,556	P70L	probably damaging	Het
Pla2g4e	T	C	2: 120,174,300	Y521C	probably damaging	Het
Pou5f1	T	A	17: 35,506,131	F11Y	probably damaging	Het
Prdm9	A	G	17: 15,553,378	M252T	probably benign	Het
Ptk2b	C	T	14: 66,157,069	G859S	probably benign	Het
Rad51ap1	A	G	6: 126,927,553	S123P	probably benign	Het
Robo3	T	C	9: 37,425,218	E418G	probably damaging	Het
Sos2	C	T	12: 69,616,328	R631H	probably damaging	Het
St3gal2	C	T	8: 110,957,785	T25I	probably benign	Het
Stra6l	G	A	4: 45,882,851	A521T	probably benign	Het
Syt7	T	A	19: 10,426,481	L177Q	probably damaging	Het
Tet2	T	A	3: 133,486,083	Q863H	possibly damaging	Het
Tmem232	T	C	17: 65,265,242	K585E	possibly damaging	Het
Trpc6	A	C	9: 8,652,978	E595A	probably damaging	Het
Txnl1	A	G	18: 63,671,679	V248A	possibly damaging	Het
Vmn2r72	A	T	7: 85,737,911	L815*	probably null	Het
Vmn2r81	C	T	10: 79,293,377	Q701*	probably null	Het
Vps13c	T	C	9: 67,952,935	V2811A	possibly damaging	Het
Zfp354a	A	G	11: 51,070,237	E425G	probably damaging	Het
Zfp617	A	T	8: 71,932,815	T330S	probably benign	Het
Zfp663	G	T	2: 165,359,130		probably benign	Het
Zfp84	T	C	7: 29,777,080	L399P	probably damaging	Het
Zfp869	A	T	8: 69,706,863	C353*	probably null	Het
Zscan22	C	T	7: 12,906,561	A85V	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
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
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'- ACCTTTAGGCTTTGTTCAAAACTCC -3'
(R):5'- CAATCCTGTGAGTCTGAGCC -3'

Sequencing Primer
(F):5'- GTTCAAAACTCCAAGGATTCTGGCTC -3'
(R):5'- GAGAACCACTTACTGTCCAGCTGG -3'

Posted On

2015-10-21