Mutagenetix > Incidental Mutations

Incidental Mutation 'R5124:Fam186a'

393469

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

042712-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99918348-99967061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99943096 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1756 (S1756P)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100209
AA Change: S1756P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: S1756P

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	A	G	9: 59,315,278	D496G	possibly damaging	Het
Agbl4	A	G	4: 111,656,328	M424V	probably benign	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Bpifa3	C	T	2: 154,138,137	Q230*	probably null	Het
Cog4	G	T	8: 110,847,193	R48L	probably damaging	Het
Cop1	A	G	1: 159,278,112	Y33C	probably damaging	Het
Cyp26a1	A	T	19: 37,701,217	I454L	probably benign	Het
Ddr1	T	C	17: 35,683,597	H762R	probably damaging	Het
Dnajc2	A	T	5: 21,763,484	S328T	probably benign	Het
Dppa2	G	T	16: 48,311,623	V28F	probably damaging	Het
Dusp15	T	A	2: 152,951,355	M1L	possibly damaging	Het
Eml5	G	A	12: 98,792,042	T1875M	probably damaging	Het
Gm436	A	T	4: 144,674,719	I65N	probably damaging	Het
Gm5431	T	A	11: 48,889,039	Q630L	probably benign	Het
Gm9733	T	A	3: 15,320,579	R88*	probably null	Het
H6pd	A	G	4: 149,982,055	S625P	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnj6	G	T	16: 94,832,659	P180T	probably damaging	Het
Lpin3	T	A	2: 160,897,061	M263K	probably benign	Het
Lrp2	A	T	2: 69,501,490	D1640E	probably damaging	Het
Lypd2	C	T	15: 74,732,498	A74T	probably benign	Het
Map4k1	T	C	7: 28,988,832	L223P	probably damaging	Het
Myh7	A	T	14: 54,985,742	Y715*	probably null	Het
Myo9b	T	C	8: 71,355,839	S1697P	probably damaging	Het
Neb	T	C	2: 52,281,498	E1661G	probably damaging	Het
Nek8	A	T	11: 78,172,939	M80K	probably damaging	Het
Nup188	T	A	2: 30,330,935	L979Q	probably damaging	Het
Olfr1218	A	T	2: 89,055,087	V113D	probably damaging	Het
P4htm	T	A	9: 108,581,942	S264C	possibly damaging	Het
Pcdha8	A	G	18: 36,993,715	T417A	probably benign	Het
Pclo	T	C	5: 14,677,392		probably benign	Het
Prox1	T	A	1: 190,161,279	N323I	possibly damaging	Het
Prune2	A	T	19: 17,199,910	R222S	probably damaging	Het
Psmd2	C	A	16: 20,652,698	R100S	possibly damaging	Het
Qrich2	A	T	11: 116,446,773	M1963K	probably damaging	Het
Rbm39	C	T	2: 156,159,162	G324D	probably damaging	Het
Rhobtb1	A	T	10: 69,269,901		probably null	Het
Rhov	G	T	2: 119,271,087	P13T	unknown	Het
Sec14l3	A	G	11: 4,075,209	D273G	possibly damaging	Het
Slco2a1	T	A	9: 103,050,166	I86N	probably damaging	Het
Smg1	A	T	7: 118,213,012	S19T	probably benign	Het
Stk32a	T	C	18: 43,305,017	S194P	probably benign	Het
Syna	G	A	5: 134,559,570	S175L	possibly damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tmem151b	T	C	17: 45,547,119	Y67C	probably damaging	Het
Tshz1	C	T	18: 84,015,467	R272Q	probably damaging	Het
Tti1	A	G	2: 158,008,195	S375P	probably damaging	Het
Vcan	T	C	13: 89,725,517	K73E	probably damaging	Het
Vmn1r202	C	T	13: 22,501,750	V166I	probably benign	Het
Vmn2r10	A	G	5: 109,006,420	V6A	probably benign	Het
Zfhx4	A	G	3: 5,242,047	D111G	probably damaging	Het
Zhx1	C	G	15: 58,054,074	G259R	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
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
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'- AACTGTGAGAATTATCCCTAGGG -3'
(R):5'- TCTGGGAATCACTGTCAGCC -3'

Sequencing Primer
(F):5'- GCCTCCTCAGGGGTCAGAC -3'
(R):5'- GAATCACTGTCAGCCCTGAG -3'

Posted On

2016-06-15