Mutagenetix > Incidental Mutations

Incidental Mutation 'R6961:Fam186a'

541776

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99918348-99967061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99940201 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 2721 (I2721F)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100209
AA Change: I2721F

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: I2721F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230113P08Rik	G	A	9: 35,908,444	M1I	probably null	Het
Aasdh	A	G	5: 76,876,301	L168P	probably damaging	Het
Atp6v0d1	A	G	8: 105,529,217	L173P	probably damaging	Het
Baiap2l2	A	G	15: 79,284,635	F23L	probably damaging	Het
Ccdc144b	T	A	3: 36,050,617	I32F	possibly damaging	Het
Cdh23	G	C	10: 60,650,114	L41V	probably benign	Het
Cep120	C	A	18: 53,703,205	E803*	probably null	Het
Clcn7	C	T	17: 25,157,214	P560S	probably damaging	Het
Cldn12	A	T	5: 5,507,707	V240D	probably damaging	Het
Clec1a	C	T	6: 129,429,983	E190K	probably benign	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Crispld1	T	A	1: 17,762,141	H450Q	probably damaging	Het
Dsc2	A	T	18: 20,038,222	N573K	probably damaging	Het
Fbxl13	A	G	5: 21,543,742	F393S	probably damaging	Het
Fut1	A	T	7: 45,619,539	I306F	probably damaging	Het
Gas2l3	T	C	10: 89,413,291	D655G	probably benign	Het
Gm15448	T	C	7: 3,825,125	Y61C	probably damaging	Het
Gm29106	A	T	1: 118,200,398	K607*	probably null	Het
Gm609	T	A	16: 45,444,003	Y64F	probably benign	Het
Hmg20a	T	C	9: 56,488,728	V268A	probably benign	Het
Il2rb	T	A	15: 78,485,824	Y205F	probably damaging	Het
Ints4	A	G	7: 97,541,190	*965W	probably null	Het
Itsn2	T	A	12: 4,673,420	C1118*	probably null	Het
Jakmip1	T	C	5: 37,173,353	L459P	probably damaging	Het
Klhl8	T	C	5: 103,870,569	T323A	possibly damaging	Het
Mindy3	C	A	2: 12,396,178		probably null	Het
Myo3a	A	G	2: 22,245,558	T79A	probably benign	Het
Myom2	G	A	8: 15,117,741	A1109T	probably null	Het
Napa	C	T	7: 16,109,109	R53*	probably null	Het
Nudt21	A	C	8: 94,028,880	D133E	probably benign	Het
Olfr1220	T	A	2: 89,097,805	M41L	probably benign	Het
Olfr131	T	A	17: 38,082,205	I258F	probably damaging	Het
Olfr601	A	G	7: 103,358,582	V204A	possibly damaging	Het
Olfr680-ps1	A	T	7: 105,092,771	M16K	probably benign	Het
Olfr690	A	T	7: 105,329,706	I162K	probably damaging	Het
Olfr789	T	C	10: 129,487,462	F151L	probably damaging	Het
Pla2g4e	G	T	2: 120,174,370		probably null	Het
Ptbp1	T	C	10: 79,859,277		probably null	Het
Scfd2	A	C	5: 74,519,541	V317G	possibly damaging	Het
Slc45a1	T	C	4: 150,629,653	M712V	probably damaging	Het
Smg7	A	T	1: 152,841,583	L919*	probably null	Het
Sspo	T	A	6: 48,463,877	S1758T	probably benign	Het
Tgfb2	A	T	1: 186,649,835	M165K	possibly damaging	Het
Tie1	C	T	4: 118,486,205	V154M	probably damaging	Het
Timm17a	A	G	1: 135,311,078		probably benign	Het
Tlr5	C	T	1: 182,973,511	R127*	probably null	Het
Ttc29	A	C	8: 78,276,916	I254L	possibly damaging	Het
Unc79	T	C	12: 103,112,915	S1780P	probably damaging	Het
Vmn2r106	A	T	17: 20,268,384	Y584*	probably null	Het
Zbtb24	A	G	10: 41,455,175	E366G	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
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
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'- ACATAGCCGTCTTCAGGGTG -3'
(R):5'- ATGTCACTCTGGGTTTTGAGACC -3'

Sequencing Primer
(F):5'- GGGGACACTATCATCTTGGC -3'
(R):5'- GAGACCTCTCAGGCTCCATTC -3'

Posted On

2018-11-28