Mutagenetix > Incidental Mutations

Incidental Mutation 'R2251:Fam186a'

241701

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

040251-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R2251 (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 99945097 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1089 (T1089A)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100209
AA Change: T1089A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: T1089A

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,142,612	S79F	probably damaging	Het
Abl1	T	A	2: 31,779,119	V170E	probably damaging	Het
Akap13	C	T	7: 75,739,477	T2381M	possibly damaging	Het
Armc8	T	A	9: 99,502,600		probably null	Het
B3gnt3	A	T	8: 71,692,818	M302K	probably damaging	Het
Casp3	G	T	8: 46,637,955	W214L	probably damaging	Het
Cnot1	A	G	8: 95,763,186	V463A	probably benign	Het
Cntn2	T	C	1: 132,525,321	E411G	probably damaging	Het
Dgkg	A	T	16: 22,622,260	M1K	probably null	Het
Faap20	A	C	4: 155,250,553	E37A	possibly damaging	Het
Fgb	T	G	3: 83,043,284	T388P	probably damaging	Het
Fndc1	G	A	17: 7,753,607	R1498W	probably damaging	Het
Gch1	T	C	14: 47,189,341		probably benign	Het
Gzf1	T	C	2: 148,683,936	M109T	probably damaging	Het
H2-M10.1	A	C	17: 36,325,606	L102R	probably damaging	Het
Kpna1	T	C	16: 36,021,569	Y280H	possibly damaging	Het
Mbtps2	A	T	X: 157,559,033	F270L	probably benign	Het
Mrpl40	T	C	16: 18,875,375	H29R	probably benign	Het
N4bp2	G	A	5: 65,806,728	V707I	probably damaging	Het
Nav2	A	G	7: 49,453,277	K608E	probably damaging	Het
Nfix	T	C	8: 84,716,170	D458G	probably benign	Het
Ngdn	T	C	14: 55,023,395		probably null	Het
Nr3c1	G	T	18: 39,486,751	T161K	probably benign	Het
Olfr1279	A	G	2: 111,306,310	Y35C	probably damaging	Het
Olfr138	C	T	17: 38,274,903	A44V	probably benign	Het
Olfr672	A	T	7: 104,996,595	M103K	probably damaging	Het
Olfr988	A	G	2: 85,353,858	S23P	possibly damaging	Het
Pbld2	G	T	10: 63,024,605		probably benign	Het
Pkd1l2	T	C	8: 117,057,438	Y700C	probably damaging	Het
Plcb2	T	C	2: 118,723,765	N69S	probably benign	Het
Pwp2	T	A	10: 78,181,088	Q266L	probably benign	Het
Rnf133	T	C	6: 23,649,175	M252V	probably benign	Het
Scn8a	A	G	15: 101,017,106	I1184V	probably benign	Het
Slc7a2	T	C	8: 40,905,621	Y334H	probably benign	Het
Smim11	T	C	16: 92,310,828	Y14H	probably benign	Het
Spata17	A	T	1: 187,048,473	L359Q	possibly damaging	Het
Spn	T	C	7: 127,137,159	K59E	probably benign	Het
Tap2	A	G	17: 34,211,954	S343G	probably damaging	Het
Tcp11l2	T	C	10: 84,605,069		probably null	Het
Tlr11	T	A	14: 50,360,792	N78K	probably benign	Het
Tm9sf2	T	A	14: 122,139,731	S224T	probably benign	Het
Trpm1	G	A	7: 64,209,976	G261D	probably damaging	Het
Usp3	T	C	9: 66,562,578	D87G	probably damaging	Het
Vmn1r189	T	C	13: 22,102,548	K40E	probably damaging	Het
Vps45	A	T	3: 96,057,040	D56E	probably benign	Het
Vstm2a	C	A	11: 16,368,273	Q231K	probably benign	Het
Zcchc11	T	A	4: 108,520,208	D938E	probably damaging	Het
Zfp575	A	T	7: 24,585,590	C209S	probably damaging	Het
Zfp768	T	C	7: 127,344,378	T193A	probably benign	Het
Zfp867	T	A	11: 59,465,493	R38*	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
R2239:Fam186a	UTSW	15	99954864	missense	unknown
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
X0021:Fam186a	UTSW	15	99945435	missense	probably benign	0.00
Z1088:Fam186a	UTSW	15	99945994	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTCAGGGGTGAAAGTGATC -3'
(R):5'- GTCAAGGCACAGAGGGTCAATC -3'

Sequencing Primer
(F):5'- ATCAGGGCTCAGATTGATTCTC -3'
(R):5'- GCACAGAGGGTCAATCTGATC -3'

Posted On

2014-10-16