Mutagenetix > Incidental Mutations

Incidental Mutation 'R2239:Fam186a'

359739

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

040239-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2239 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

99918348-99967061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99954864 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 158 (V158M)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100209]

Predicted Effect

unknown
Transcript: ENSMUST00000100209
AA Change: V158M

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: V158M

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Blast:FBG	44	222	4e-48	BLAST
coiled coil region	292	340	N/A	INTRINSIC
low complexity region	423	443	N/A	INTRINSIC
low complexity region	446	458	N/A	INTRINSIC
low complexity region	632	644	N/A	INTRINSIC
low complexity region	702	713	N/A	INTRINSIC
internal_repeat_2	743	1156	1.05e-58	PROSPERO
internal_repeat_1	833	1270	7.71e-59	PROSPERO
low complexity region	1271	1285	N/A	INTRINSIC
low complexity region	1289	1300	N/A	INTRINSIC
low complexity region	1309	1323	N/A	INTRINSIC
low complexity region	1327	1338	N/A	INTRINSIC
low complexity region	1347	1361	N/A	INTRINSIC
low complexity region	1365	1376	N/A	INTRINSIC
low complexity region	1384	1395	N/A	INTRINSIC
low complexity region	1403	1414	N/A	INTRINSIC
low complexity region	1423	1437	N/A	INTRINSIC
low complexity region	1441	1452	N/A	INTRINSIC
low complexity region	1460	1471	N/A	INTRINSIC
low complexity region	1479	1490	N/A	INTRINSIC
low complexity region	1498	1509	N/A	INTRINSIC
low complexity region	1518	1532	N/A	INTRINSIC
low complexity region	1536	1547	N/A	INTRINSIC
low complexity region	1555	1566	N/A	INTRINSIC
low complexity region	1574	1585	N/A	INTRINSIC
internal_repeat_1	1586	1981	7.71e-59	PROSPERO
internal_repeat_2	1737	2197	1.05e-58	PROSPERO
low complexity region	2367	2378	N/A	INTRINSIC
low complexity region	2549	2564	N/A	INTRINSIC
low complexity region	2644	2655	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180309

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 24,646,287	E406G	probably benign	Het
Ago3	G	A	4: 126,368,522	R412C	probably damaging	Het
Arhgap36	G	T	X: 49,493,405	V60L	possibly damaging	Het
Arl10	G	T	13: 54,575,149	V19L	probably benign	Het
Aspm	T	A	1: 139,456,846	I127K	possibly damaging	Het
Atp8b3	A	G	10: 80,530,988	C259R	probably damaging	Het
Camk2g	A	G	14: 20,739,387	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,202,134	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,820,897	M1K	probably null	Het
Cdc37	G	A	9: 21,142,533	Q176*	probably null	Het
Cdh5	C	A	8: 104,125,672	H140N	possibly damaging	Het
Cep128	T	C	12: 91,347,567	T146A	probably benign	Het
Cnnm4	T	A	1: 36,505,678	S673T	probably benign	Het
Cnot1	T	C	8: 95,769,521	I342V	probably benign	Het
Cog8	C	A	8: 107,056,361	G99W	probably damaging	Het
Dars2	T	C	1: 161,063,282	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,201,184		probably benign	Het
Emilin2	T	A	17: 71,310,224	Q64L	probably benign	Het
Eomes	A	G	9: 118,482,291	D394G	probably damaging	Het
Epn1	A	G	7: 5,097,602	N518S	probably damaging	Het
Exoc1	T	C	5: 76,559,710		probably benign	Het
Fryl	A	G	5: 73,108,547	L477P	probably damaging	Het
Gbf1	T	C	19: 46,163,618	I30T	probably benign	Het
Gm7534	A	C	4: 134,202,205	M263R	unknown	Het
Gm7714	T	G	5: 88,282,554	M103R	probably benign	Het
Hsd17b1	A	T	11: 101,078,463	I8F	probably damaging	Het
Htatsf1	G	T	X: 57,066,504	D642Y	unknown	Het
Ift88	A	G	14: 57,455,504	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,007,719	M484L	probably benign	Het
Kdm1b	T	A	13: 47,073,755	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,199,237	F104S	probably damaging	Het
Kntc1	T	C	5: 123,803,670	V1809A	possibly damaging	Het
Lgr4	T	C	2: 110,012,393	Y908H	probably damaging	Het
Ltbp3	C	A	19: 5,751,523	C698*	probably null	Het
Map3k1	A	C	13: 111,748,944	S1480A	probably benign	Het
Map7	A	T	10: 20,278,282	N715Y	unknown	Het
Morn4	A	G	19: 42,078,032	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,665,183	D105E	probably damaging	Het
Nfasc	T	C	1: 132,583,022		probably benign	Het
Nfe2l2	G	A	2: 75,676,554	P401S	probably benign	Het
Nt5c1b	C	A	12: 10,375,558	T309K	probably damaging	Het
Olfr1156	T	C	2: 87,949,397	T279A	probably damaging	Het
Olfr1417	T	C	19: 11,828,450	D192G	probably damaging	Het
Olfr1463	T	C	19: 13,234,721	V157A	probably benign	Het
Olfr205	T	A	16: 59,329,375	I45F	probably damaging	Het
Olfr223	A	G	11: 59,589,271	S273P	possibly damaging	Het
P4hb	A	G	11: 120,563,282	Y329H	probably damaging	Het
Papolg	A	G	11: 23,876,378	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,437,354	N105I	probably damaging	Het
Pde4a	G	A	9: 21,211,268	C820Y	probably damaging	Het
Phka2	A	G	X: 160,541,412	E254G	probably damaging	Het
Phrf1	A	G	7: 141,237,692	E138G	probably damaging	Het
Rgs3	A	T	4: 62,625,887	T299S	probably benign	Het
Skint5	G	A	4: 113,546,536	T1163I	unknown	Het
Slc16a8	T	C	15: 79,252,947	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,306,203		probably null	Het
Spata4	A	C	8: 54,602,629	K185T	probably benign	Het
Spin2c	A	G	X: 153,833,676	I162V	probably damaging	Het
Stac	G	A	9: 111,690,122		probably benign	Het
Tet1	T	C	10: 62,879,734	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,299,981	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,771,147	T984I	probably benign	Het
Trmt5	A	G	12: 73,285,114	I4T	probably benign	Het
Ttc7b	A	G	12: 100,355,001		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,576,214	T2020K	probably benign	Het
Zan	G	A	5: 137,457,837	Q1354*	probably null	Het

Other mutations in Fam186a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Fam186a	APN	15	99927691	splice site	probably benign
IGL03047:Fam186a	UTSW	15	99945708	missense	unknown
R0172:Fam186a	UTSW	15	99954887	missense	unknown
R0194:Fam186a	UTSW	15	99941763	missense	possibly damaging	0.92
R0381:Fam186a	UTSW	15	99942174	missense	probably damaging	0.97
R0799:Fam186a	UTSW	15	99942012	missense	probably damaging	1.00
R1295:Fam186a	UTSW	15	99939789	splice site	probably benign
R1366:Fam186a	UTSW	15	99943389	missense	possibly damaging	0.89
R1519:Fam186a	UTSW	15	99947655	missense	unknown
R1592:Fam186a	UTSW	15	99940318	missense	probably benign	0.01
R1636:Fam186a	UTSW	15	99941658	missense	unknown
R1719:Fam186a	UTSW	15	99942346	missense	possibly damaging	0.54
R1759:Fam186a	UTSW	15	99966881	nonsense	probably null
R1856:Fam186a	UTSW	15	99940302	missense	possibly damaging	0.82
R2131:Fam186a	UTSW	15	99933676	unclassified	probably benign
R2192:Fam186a	UTSW	15	99940311	missense	possibly damaging	0.90
R2251:Fam186a	UTSW	15	99945097	missense	probably benign	0.02
R2902:Fam186a	UTSW	15	99945168	missense	possibly damaging	0.73
R3037:Fam186a	UTSW	15	99943794	missense	probably damaging	0.99
R3744:Fam186a	UTSW	15	99947535	missense	unknown
R4021:Fam186a	UTSW	15	99941799	missense	possibly damaging	0.66
R4183:Fam186a	UTSW	15	99933685	unclassified	probably benign
R4238:Fam186a	UTSW	15	99943642	missense	probably benign	0.05
R4667:Fam186a	UTSW	15	99944532	missense	possibly damaging	0.92
R4817:Fam186a	UTSW	15	99933538	unclassified	probably benign
R4835:Fam186a	UTSW	15	99945808	missense	unknown
R4837:Fam186a	UTSW	15	99940797	missense	unknown
R4897:Fam186a	UTSW	15	99945277	missense	possibly damaging	0.66
R4902:Fam186a	UTSW	15	99946842	missense	unknown
R4950:Fam186a	UTSW	15	99941653	missense	unknown
R4995:Fam186a	UTSW	15	99945099	missense	probably benign	0.27
R5062:Fam186a	UTSW	15	99944646	missense	possibly damaging	0.66
R5124:Fam186a	UTSW	15	99943096	missense	possibly damaging	0.90
R5133:Fam186a	UTSW	15	99955493	missense	unknown
R5424:Fam186a	UTSW	15	99945763	missense	unknown
R5624:Fam186a	UTSW	15	99941747	missense	possibly damaging	0.90
R5628:Fam186a	UTSW	15	99941747	missense	possibly damaging	0.90
R5637:Fam186a	UTSW	15	99941747	missense	possibly damaging	0.90
R5639:Fam186a	UTSW	15	99947050	missense	unknown
R5652:Fam186a	UTSW	15	99945372	missense	possibly damaging	0.79
R5673:Fam186a	UTSW	15	99941747	missense	possibly damaging	0.90
R5799:Fam186a	UTSW	15	99966824	nonsense	probably null
R5965:Fam186a	UTSW	15	99945097	missense	probably benign	0.37
R6044:Fam186a	UTSW	15	99941997	missense	probably damaging	0.97
R6077:Fam186a	UTSW	15	99942703	missense	possibly damaging	0.46
R6120:Fam186a	UTSW	15	99940363	missense	probably benign	0.00
R6185:Fam186a	UTSW	15	99947649	missense	unknown
R6186:Fam186a	UTSW	15	99947325	missense	unknown
R6242:Fam186a	UTSW	15	99939907	missense	unknown
R6351:Fam186a	UTSW	15	99941742	missense	probably damaging	0.97
R6368:Fam186a	UTSW	15	99943317	missense	possibly damaging	0.66
R6369:Fam186a	UTSW	15	99947331	missense	unknown
R6559:Fam186a	UTSW	15	99944475	missense	possibly damaging	0.46
R6855:Fam186a	UTSW	15	99954875	missense	unknown
R6867:Fam186a	UTSW	15	99945850	missense	unknown
R6957:Fam186a	UTSW	15	99946476	missense	unknown
R6961:Fam186a	UTSW	15	99940201	missense	probably benign	0.16
R6994:Fam186a	UTSW	15	99942466	missense	probably benign	0.35
R6996:Fam186a	UTSW	15	99955493	missense	unknown
R7062:Fam186a	UTSW	15	99933640	unclassified	probably benign
R7064:Fam186a	UTSW	15	99941676	missense	unknown
R7173:Fam186a	UTSW	15	99945650	missense	unknown
R7244:Fam186a	UTSW	15	99946392	missense	unknown
R7270:Fam186a	UTSW	15	99944152	missense	possibly damaging	0.66
R7410:Fam186a	UTSW	15	99946945	nonsense	probably null
R7437:Fam186a	UTSW	15	99942894	missense	probably damaging	1.00
R7475:Fam186a	UTSW	15	99947514	missense	unknown
R7487:Fam186a	UTSW	15	99942136	missense	possibly damaging	0.66
R7526:Fam186a	UTSW	15	99941915	missense	possibly damaging	0.83
R7650:Fam186a	UTSW	15	99939907	missense	unknown
R7658:Fam186a	UTSW	15	99939844	missense	unknown
R7663:Fam186a	UTSW	15	99945069	missense	probably benign	0.00
R7703:Fam186a	UTSW	15	99954797	missense	unknown
R7814:Fam186a	UTSW	15	99944664	missense	possibly damaging	0.92
R7958:Fam186a	UTSW	15	99943308	missense	probably damaging	0.99
R7970:Fam186a	UTSW	15	99933586	missense	unknown
R8076:Fam186a	UTSW	15	99943470	missense	possibly damaging	0.83
R8087:Fam186a	UTSW	15	99941844	missense	possibly damaging	0.46
R8130:Fam186a	UTSW	15	99944033	frame shift	probably null
R8239:Fam186a	UTSW	15	99941310	missense	unknown
R8246:Fam186a	UTSW	15	99940547	missense	unknown
R8446:Fam186a	UTSW	15	99947454	missense	unknown
R8469:Fam186a	UTSW	15	99947305	missense	unknown
X0021:Fam186a	UTSW	15	99945435	missense	probably benign	0.00
Z1088:Fam186a	UTSW	15	99945994	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATCTGTGCAGTTGATACATGTAC -3'
(R):5'- ACAAGATAACTATTCCCCAGTGG -3'

Sequencing Primer
(F):5'- TAGTGCTCTTGACCACGGAAC -3'
(R):5'- CCCAGTGGAACCATGTTGTACAG -3'

Posted On

2015-12-14