Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Fam186a'

352084

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

042012-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4667 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

99918348-99967061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99944532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1277 (T1277I)

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: T1277I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: T1277I

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	T	17: 28,908,313	Q241K	possibly damaging	Het
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Adgra3	T	A	5: 49,978,956	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,146,416	Y58H	probably damaging	Het
Akap13	A	G	7: 75,729,094	T2128A	probably damaging	Het
Akap2	A	T	4: 57,855,655	D328V	possibly damaging	Het
Ankhd1	C	A	18: 36,648,021	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,954,561	K155R	probably benign	Het
Atp10b	T	C	11: 43,247,518	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,726,509		probably benign	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Btbd17	A	G	11: 114,793,857	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,931,283	K267N	probably damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Chd9	T	C	8: 91,033,800	S2058P	possibly damaging	Het
Clcn6	T	C	4: 148,024,167	E135G	possibly damaging	Het
Cntn1	T	A	15: 92,295,079	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412	M99L	unknown	Het
Cpeb2	T	C	5: 43,233,892		probably benign	Het
Csn1s2b	A	G	5: 87,822,311	T134A	possibly damaging	Het
Cst13	A	T	2: 148,823,081		probably benign	Het
Cyp2c66	T	A	19: 39,176,656	D360E	probably damaging	Het
Dhx8	A	G	11: 101,738,161	S179G	unknown	Het
Dip2b	A	G	15: 100,151,360	I212V	probably benign	Het
Dnah9	G	A	11: 66,155,531	H64Y	probably benign	Het
Dnal1	T	C	12: 84,136,700		probably benign	Het
Dse	T	G	10: 34,153,012	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411	I3175V	probably benign	Het
Elf5	A	G	2: 103,449,060	N209D	probably damaging	Het
Elovl1	A	G	4: 118,430,787	Y40C	probably damaging	Het
Erp27	T	C	6: 136,908,152	E216G	possibly damaging	Het
F5	G	A	1: 164,174,186	V153I	probably benign	Het
Fam90a1a	A	T	8: 21,963,346	H239L	possibly damaging	Het
Fchsd2	G	T	7: 101,250,449	R334L	probably damaging	Het
Fermt3	T	C	19: 7,002,920	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,066,338	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,556,567	Q332K	probably benign	Het
Frem3	T	C	8: 80,663,420	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,603,031	L121P	probably damaging	Het
Gm609	A	G	16: 45,444,163	S11P	probably benign	Het
Gphn	T	C	12: 78,454,817	S119P	probably damaging	Het
Herc2	A	G	7: 56,131,253	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,544,382	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,181		probably benign	Het
Hspg2	C	T	4: 137,539,645	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,746,451	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,060,255	I7F	probably benign	Het
Kcns3	C	A	12: 11,091,783	R305L	probably damaging	Het
Kcnu1	C	T	8: 25,910,921	A699V	possibly damaging	Het
Kif22	A	C	7: 127,033,328	L270W	probably damaging	Het
Lrp2	G	T	2: 69,489,298	H1960Q	probably benign	Het
March7	C	T	2: 60,241,050	Q94*	probably null	Het
Mcoln3	A	T	3: 146,131,204	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,867,636	C137R	probably benign	Het
Mmp25	A	G	17: 23,644,607	V83A	probably benign	Het
Mocos	T	C	18: 24,666,434	Y242H	probably benign	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Mtus2	T	C	5: 148,298,260	S1156P	possibly damaging	Het
Muc5b	G	A	7: 141,842,379	R124H	unknown	Het
Mybbp1a	G	A	11: 72,447,971	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,153	E1272G	possibly damaging	Het
Nars	A	G	18: 64,505,231	S254P	possibly damaging	Het
Ncapd2	A	G	6: 125,184,518	I211T	possibly damaging	Het
Ncoa7	A	T	10: 30,690,790	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,467	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,428,727	T430K	probably benign	Het
Odf2l	A	G	3: 145,128,040	T111A	probably benign	Het
Ogdh	G	T	11: 6,340,600	C406F	probably benign	Het
Olfml2a	T	G	2: 38,949,010	S190A	probably damaging	Het
Olfr148	T	C	9: 39,613,738	M57T	probably damaging	Het
Olfr243	A	G	7: 103,716,638	T15A	probably benign	Het
Olfr870	T	C	9: 20,171,098	I158V	probably benign	Het
Olfr965	G	T	9: 39,719,709	V161F	probably benign	Het
Optn	T	C	2: 5,033,139	K415E	probably benign	Het
Perm1	C	A	4: 156,220,206	S803*	probably null	Het
Pex14	T	C	4: 148,984,085	T84A	probably benign	Het
Pih1d2	T	A	9: 50,620,952	Y103*	probably null	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,917,821	N171S	probably benign	Het
Prrx1	A	G	1: 163,254,047	S201P	probably benign	Het
Psme2b	A	T	11: 48,945,666	N151K	probably benign	Het
Serpinb5	A	T	1: 106,872,295	T72S	probably benign	Het
Sgsm1	A	G	5: 113,260,047		probably null	Het
Sipa1l2	T	C	8: 125,453,470	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,022,799	T166A	probably benign	Het
Slc5a4b	T	C	10: 76,075,045	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,801,695	C109*	probably null	Het
Tcf25	A	G	8: 123,397,025	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Tmem2	G	A	19: 21,797,351	R119H	probably benign	Het
Tmem2	C	T	19: 21,844,781	A1180V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Tspan11	T	A	6: 127,943,715	C208*	probably null	Het
Ttc1	A	G	11: 43,745,317	V33A	probably benign	Het
Uck1	T	A	2: 32,256,034	H283L	probably damaging	Het
Utrn	A	C	10: 12,698,053	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,137,498	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,872,053	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,390,084	S162T	probably benign	Het
Vps37b	A	G	5: 124,010,732	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,743,086	M1V	probably null	Het
Wrn	A	T	8: 33,324,338	N116K	probably benign	Het
Wscd2	G	T	5: 113,577,272	G391V	probably damaging	Het
Zcchc11	G	A	4: 108,495,159	E357K	probably damaging	Het
Zfp286	A	G	11: 62,780,602	V215A	probably benign	Het
Zfp568	A	G	7: 30,023,277	H549R	probably damaging	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
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
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'- TAGGAGTGATACCCAGGGCC -3'
(R):5'- GTATCACTCCGACCCCTCAG -3'

Sequencing Primer
(F):5'- TCGGAGTGATGCCCAGG -3'
(R):5'- CCTCAGCCGACCACTCTC -3'

Posted On

2015-10-08