Mutagenetix > Incidental Mutation

Incidental Mutation 'R1856:Fam186a'

206177

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

039880-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99918348-99967061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99940302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2687 (E2687G)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100209
AA Change: E2687G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: E2687G

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: ENSMUST00000104255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180309

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 120,278,181	F1017L	probably damaging	Het
Abcb11	A	C	2: 69,245,923	V1147G	probably damaging	Het
Abcc10	T	A	17: 46,306,603	S1128C	probably damaging	Het
Adam6a	G	A	12: 113,545,303	C432Y	probably damaging	Het
Adamdec1	C	T	14: 68,570,948	V318M	probably damaging	Het
Ahnak	C	A	19: 9,002,048	S232Y	possibly damaging	Het
Amt	A	C	9: 108,297,162	H42P	probably damaging	Het
Anapc1	A	T	2: 128,659,788	L778Q	probably damaging	Het
Ankhd1	G	A	18: 36,644,527	A1588T	probably benign	Het
Anln	A	T	9: 22,353,331	L881Q	probably damaging	Het
Appl1	A	G	14: 26,927,749	S607P	probably damaging	Het
Arg2	G	T	12: 79,147,662	V87L	probably benign	Het
Atp13a2	C	T	4: 141,004,012	P869L	probably benign	Het
Atxn7l1	T	A	12: 33,358,770	D310E	probably damaging	Het
Cd6	A	T	19: 10,798,602	D164E	probably damaging	Het
Cdan1	C	A	2: 120,724,936	V775L	probably benign	Het
Cep164	A	T	9: 45,775,758		probably null	Het
Cep41	A	G	6: 30,661,006	S61P	probably damaging	Het
Clcn7	C	A	17: 25,160,471	D764E	probably damaging	Het
Cog2	G	A	8: 124,551,403	G703S	possibly damaging	Het
Cramp1l	T	C	17: 24,968,978	D1214G	probably damaging	Het
Cst7	G	T	2: 150,577,708	C98F	probably damaging	Het
Ctc1	T	A	11: 69,034,658	L1007Q	probably damaging	Het
Cyb5r4	G	A	9: 87,022,209	A11T	possibly damaging	Het
Dcaf8	A	G	1: 172,175,553	D306G	probably damaging	Het
Defb38	T	A	8: 19,023,576	K27I	probably benign	Het
Disp3	T	C	4: 148,271,632	E257G	probably damaging	Het
Dnajc6	T	C	4: 101,598,988	S58P	probably damaging	Het
Dock10	A	T	1: 80,606,568	D140E	possibly damaging	Het
Dopey1	T	C	9: 86,492,004	V172A	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Eci3	C	T	13: 34,953,028	A171T	possibly damaging	Het
Eml2	A	G	7: 19,194,061	D284G	probably damaging	Het
Eml5	T	C	12: 98,810,584	D1377G	probably damaging	Het
Fut9	A	C	4: 25,620,352	L154R	probably damaging	Het
Gabrb2	A	G	11: 42,626,713	N454S	probably benign	Het
Gm438	T	A	4: 144,777,883	M233L	probably benign	Het
Gpr183	T	A	14: 121,954,741	I123L	probably benign	Het
Gucy1b1	A	T	3: 82,058,352	N62K	probably benign	Het
Hcrtr2	T	C	9: 76,259,785	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,794	L2556Q	probably damaging	Het
Hfm1	T	A	5: 106,847,676	M1290L	probably benign	Het
Hgsnat	A	G	8: 25,957,256	W337R	probably benign	Het
Hmbox1	T	C	14: 64,828,648	Y291C	probably damaging	Het
Hmcn1	T	C	1: 150,721,664	N1749S	probably benign	Het
Igsf10	T	C	3: 59,331,272	D496G	possibly damaging	Het
Iqch	C	T	9: 63,534,337		probably null	Het
Irf6	A	G	1: 193,167,535	D255G	probably benign	Het
Kif9	G	A	9: 110,517,719	G642R	probably null	Het
Klhl20	A	G	1: 161,106,742	Y236H	probably benign	Het
Krt39	T	A	11: 99,519,088	K208*	probably null	Het
Lama3	T	A	18: 12,537,781	L808*	probably null	Het
Lrp5	C	T	19: 3,597,346	A1299T	probably benign	Het
Lysmd4	A	G	7: 67,226,231	Q214R	probably benign	Het
Macf1	T	A	4: 123,369,848	E6960V	probably damaging	Het
Mcpt2	A	G	14: 56,043,699	E120G	probably benign	Het
Mpeg1	A	G	19: 12,462,356	T393A	probably benign	Het
Myh4	G	A	11: 67,255,682	E1494K	probably damaging	Het
Nbas	T	G	12: 13,474,229	S1695R	possibly damaging	Het
Nlgn1	G	T	3: 25,440,037	Y249*	probably null	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nup107	A	G	10: 117,750,906	L910P	probably damaging	Het
Obscn	T	A	11: 59,040,296	D5838V	probably damaging	Het
Olfr1218	G	A	2: 89,054,859	T189M	possibly damaging	Het
Olfr347	T	C	2: 36,734,345	I8T	probably benign	Het
Olfr926	T	C	9: 38,877,596	I140T	possibly damaging	Het
Olfr978	T	C	9: 39,994,359	I183T	probably benign	Het
Otogl	G	T	10: 107,854,264	S915Y	possibly damaging	Het
P2rx7	T	A	5: 122,681,032	C506S	probably damaging	Het
P4hb	T	C	11: 120,563,218	E350G	probably benign	Het
Papolg	A	T	11: 23,867,379	V606E	probably benign	Het
Pappa	A	T	4: 65,340,743	D1576V	probably damaging	Het
Pclo	G	T	5: 14,778,552	V1402F	probably damaging	Het
Pdcd11	A	G	19: 47,098,187	T211A	probably benign	Het
Pdzd2	T	C	15: 12,373,855	R2065G	possibly damaging	Het
Plcl2	T	C	17: 50,607,850	V629A	probably benign	Het
Prkcsh	G	A	9: 22,004,575	V92I	possibly damaging	Het
Prpf19	G	T	19: 10,902,416	V320F	probably damaging	Het
Ptpn3	T	A	4: 57,239,682	I283F	probably damaging	Het
Rcc2	T	A	4: 140,720,604	D480E	probably benign	Het
Rnf182	G	A	13: 43,668,042	C23Y	probably damaging	Het
Rnf186	C	T	4: 138,967,362	T71I	probably benign	Het
Scyl3	A	G	1: 163,933,696		probably null	Het
Slc12a6	G	T	2: 112,335,927		probably null	Het
Slc1a2	C	A	2: 102,777,567	S520Y	probably damaging	Het
Slc35e2	T	A	4: 155,611,729	L191Q	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx33	T	C	9: 56,926,011	H258R	possibly damaging	Het
Tecpr2	A	T	12: 110,933,064	H622L	probably benign	Het
Thbs3	A	T	3: 89,226,406	E888D	probably damaging	Het
Tlk2	T	C	11: 105,221,298	L159P	probably benign	Het
Tmem70	A	T	1: 16,677,273	T205S	probably damaging	Het
Trappc10	T	A	10: 78,196,451	H1001L	probably benign	Het
Trim12a	T	C	7: 104,300,857	T292A	probably benign	Het
Trip11	G	A	12: 101,883,333	R92*	probably null	Het
Trpa1	G	A	1: 14,899,388	Q386*	probably null	Het
Trpc4	T	A	3: 54,279,989	V454D	probably damaging	Het
Ttc36	A	T	9: 44,802,754	D22E	probably benign	Het
Ttk	A	T	9: 83,869,263	I798F	probably damaging	Het
Ttn	T	C	2: 76,743,633	I17312V	probably damaging	Het
Txndc15	A	T	13: 55,718,062	E113V	possibly damaging	Het
Ube2d4	T	A	15: 58,846,599		noncoding transcript	Het
Urb1	T	A	16: 90,761,695	T1723S	probably benign	Het
Vmn1r65	A	T	7: 6,008,266	V323D	possibly damaging	Het
Vmn2r54	A	G	7: 12,632,311	M232T	probably benign	Het
Wdr59	A	G	8: 111,476,181	S577P	probably damaging	Het
Wfikkn2	C	T	11: 94,238,123	W397*	probably null	Het
Ypel1	T	A	16: 17,081,647		probably null	Het
Ythdf1	T	A	2: 180,910,970	D484V	probably damaging	Het
Zdhhc17	A	G	10: 110,947,293		probably null	Het
Zfp472	A	T	17: 32,965,913	H2L	possibly damaging	Het
Zfp953	A	T	13: 67,345,358	M74K	probably benign	Het
Zmat4	C	T	8: 23,929,135	T61M	probably benign	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
R2131:Fam186a	UTSW	15	99933676	unclassified	probably benign
R2192:Fam186a	UTSW	15	99940311	missense	possibly damaging	0.90
R2239:Fam186a	UTSW	15	99954864	missense	unknown
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
R8676:Fam186a	UTSW	15	99947142	missense	unknown
R8790:Fam186a	UTSW	15	99943143	missense	possibly damaging	0.90
R8808:Fam186a	UTSW	15	99944723	missense	possibly damaging	0.83
R8848:Fam186a	UTSW	15	99940153	missense	possibly damaging	0.83
R9083:Fam186a	UTSW	15	99945198	missense	probably benign	0.27
R9106:Fam186a	UTSW	15	99946226	small deletion	probably benign
R9116:Fam186a	UTSW	15	99942591	missense	possibly damaging	0.95
R9156:Fam186a	UTSW	15	99943278	missense	possibly damaging	0.46
R9227:Fam186a	UTSW	15	99955503	missense	unknown
R9250:Fam186a	UTSW	15	99947449	missense	unknown
R9282:Fam186a	UTSW	15	99941998	missense	probably damaging	0.97
R9495:Fam186a	UTSW	15	99946885	missense	unknown
R9514:Fam186a	UTSW	15	99946885	missense	unknown
R9521:Fam186a	UTSW	15	99943590	missense	probably damaging	0.97
R9553:Fam186a	UTSW	15	99946680	missense	unknown
R9641:Fam186a	UTSW	15	99940363	missense	probably benign	0.00
R9655:Fam186a	UTSW	15	99943092	missense	probably damaging	0.99
R9661:Fam186a	UTSW	15	99944611	missense	possibly damaging	0.66
R9673:Fam186a	UTSW	15	99943143	missense	possibly damaging	0.90
R9762:Fam186a	UTSW	15	99944512	missense	possibly damaging	0.66
X0021:Fam186a	UTSW	15	99945435	missense	probably benign	0.00
Z1088:Fam186a	UTSW	15	99945994	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTGTCCAGGGCTTGTCTATC -3'
(R):5'- CATCCTTTCACAGCAGAGGC -3'

Sequencing Primer
(F):5'- GCCCTTTTCAGAAGTTGAGATC -3'
(R):5'- TTTCACAGCAGAGGCCCTAC -3'

Posted On

2014-06-23