Mutagenetix > Incidental Mutations

Incidental Mutation 'R1759:Fam186a'

195229

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

039791-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99918348-99967061 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 99966881 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 23 (K23*)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057632] [ENSMUST00000100209]

Predicted Effect

probably benign
Transcript: ENSMUST00000057632

SMART Domains

Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025

Domain	Start	End	E-Value	Type
LA	112	190	2.44e-40	SMART
RRM	195	265	3.28e-2	SMART
low complexity region	375	388	N/A	INTRINSIC
low complexity region	433	453	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
low complexity region	651	663	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000100209
AA Change: K23*

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: K23*

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,625,710	I369N	probably benign	Het
4931428F04Rik	A	T	8: 105,285,550	S88R	probably damaging	Het
9330159F19Rik	A	T	10: 29,218,276	M53L	possibly damaging	Het
Abca5	T	C	11: 110,293,848	D944G	probably benign	Het
Ankdd1b	T	C	13: 96,419,703	Y433C	probably damaging	Het
Aox3	A	G	1: 58,170,646		probably null	Het
Ap1g1	G	A	8: 109,833,221	G260E	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp13a4	T	A	16: 29,456,611	T352S	probably damaging	Het
Ccdc33	T	A	9: 58,117,446	N166Y	possibly damaging	Het
Ces2h	T	A	8: 105,016,611	D159E	probably damaging	Het
Chd1	T	A	17: 17,387,271	D360E	probably benign	Het
Col16a1	G	T	4: 130,084,269	G781V	probably damaging	Het
Col6a5	T	A	9: 105,930,846	E1001V	unknown	Het
Cyp3a59	T	G	5: 146,098,250	M246R	probably benign	Het
Dcn	T	C	10: 97,513,655	V263A	probably benign	Het
Dnttip2	A	G	3: 122,276,149	N338D	probably benign	Het
Entpd1	G	T	19: 40,612,524		probably null	Het
Epb41l1	A	G	2: 156,521,974	D801G	probably benign	Het
Gbe1	T	C	16: 70,488,041	M417T	probably benign	Het
Gmnc	T	A	16: 26,965,747	S3C	possibly damaging	Het
Gpr156	T	C	16: 37,948,221	S35P	probably damaging	Het
Grid1	T	C	14: 35,446,031	M504T	possibly damaging	Het
Gsdma3	T	C	11: 98,635,245	V265A	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,083	I308N	probably damaging	Het
Inpp4b	A	G	8: 81,768,103	D49G	probably benign	Het
Ipmk	C	A	10: 71,381,303	Q227K	probably damaging	Het
Kalrn	T	A	16: 34,360,950	D88V	probably damaging	Het
Kansl1l	C	T	1: 66,801,888	M84I	probably damaging	Het
Kcnab2	T	G	4: 152,393,052	K363Q	probably damaging	Het
Kdm7a	C	A	6: 39,147,699		probably null	Het
Kiss1r	T	C	10: 79,921,778	L322P	probably damaging	Het
Lce1e	A	T	3: 92,707,871	C56*	probably null	Het
Lrpprc	T	C	17: 84,740,081	K908E	probably damaging	Het
Mak	C	A	13: 41,056,634	W42L	probably damaging	Het
Map3k21	A	G	8: 125,944,780	T936A	probably benign	Het
March7	C	T	2: 60,234,544	S388F	probably damaging	Het
Mgat2	A	T	12: 69,185,527	I292F	probably benign	Het
Myh3	C	A	11: 67,096,891	R1397S	probably damaging	Het
Myo5a	A	G	9: 75,181,993	D1135G	possibly damaging	Het
N4bp2	A	G	5: 65,826,613	E1667G	probably damaging	Het
Nbr1	A	G	11: 101,559,543	T43A	probably damaging	Het
Nip7	A	G	8: 107,058,135	N124S	probably benign	Het
Olfr410	G	A	11: 74,334,982	S83F	possibly damaging	Het
Olfr606	T	C	7: 103,452,149	S271P	probably benign	Het
Olfr790	T	A	10: 129,500,906	S7R	probably benign	Het
Olfr843	C	T	9: 19,249,088	V104I	probably benign	Het
Olfr922	T	C	9: 38,815,898	Y132H	probably damaging	Het
Otoa	T	C	7: 121,134,103	L731P	probably damaging	Het
Pcnx2	G	A	8: 125,773,978	P1458S	probably damaging	Het
Pfpl	A	G	19: 12,429,860	T492A	probably damaging	Het
Pgm2	A	G	4: 99,967,108	D326G	probably damaging	Het
Plekhh1	T	A	12: 79,072,761	Y953N	probably damaging	Het
Pnkd	G	A	1: 74,348,763	A195T	probably damaging	Het
Ppib	C	T	9: 66,061,482	Q51*	probably null	Het
Ppip5k1	G	T	2: 121,350,586	T13K	probably benign	Het
Psmg2	A	T	18: 67,648,176	S113C	probably benign	Het
Rapgef2	A	G	3: 79,066,731	M1584T	possibly damaging	Het
Rbm12b1	A	C	4: 12,145,424	R465S	probably damaging	Het
Reln	A	G	5: 22,010,289	Y1055H	probably damaging	Het
Ros1	A	T	10: 52,120,826	I1250K	probably damaging	Het
Samd9l	C	A	6: 3,373,401	V1287F	probably damaging	Het
Sgce	A	T	6: 4,689,765	I356N	probably damaging	Het
Sh3tc1	C	T	5: 35,705,904	E980K	possibly damaging	Het
Sil1	T	C	18: 35,418,098	E68G	possibly damaging	Het
Slc18a1	A	G	8: 69,065,585	I259T	possibly damaging	Het
Slc6a20b	A	C	9: 123,608,997		probably null	Het
Smg7	G	T	1: 152,848,846	T536K	probably benign	Het
Smyd4	A	G	11: 75,382,366	Y84C	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Sorbs2	A	T	8: 45,763,019	*50C	probably null	Het
Speg	A	T	1: 75,401,162	M855L	possibly damaging	Het
Srrt	G	T	5: 137,302,950	H71Q	probably damaging	Het
St6galnac5	A	G	3: 152,846,493	S146P	probably damaging	Het
Syne1	T	A	10: 5,349,369	Q962L	probably damaging	Het
Tiam2	A	G	17: 3,516,003	H1441R	probably damaging	Het
Tmem45a	C	T	16: 56,822,402	M135I	probably benign	Het
Tpr	A	T	1: 150,429,524	E1521D	probably benign	Het
Uba3	C	T	6: 97,196,904	G107R	probably damaging	Het
Unc45b	G	T	11: 82,929,499	V590F	probably benign	Het
Vmn1r14	A	T	6: 57,234,312	T292S	probably benign	Het
Vmn2r102	T	A	17: 19,694,493	N773K	probably damaging	Het
Vps13d	A	T	4: 145,155,857	D1055E	probably benign	Het
Wfs1	G	C	5: 36,967,015	A844G	probably damaging	Het
Zfp398	A	G	6: 47,859,478	T71A	possibly damaging	Het
Zfp507	C	A	7: 35,775,978	A145S	probably damaging	Het
Zfp971	A	T	2: 178,033,929	E440D	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
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
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
X0021:Fam186a	UTSW	15	99945435	missense	probably benign	0.00
Z1088:Fam186a	UTSW	15	99945994	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCCGTCAATGGATTGGCTACTCAC -3'
(R):5'- AAAGAGGAAGCAGCCCTAAGCATTC -3'

Sequencing Primer
(F):5'- ACCTCTTTGGCCCGAAAGATATG -3'
(R):5'- TGAAGCCTTCTAGTAGGTCCAAG -3'

Posted On

2014-05-23