Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Fam186a'

661411

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

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

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99918348-99967061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99947142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 407 (D407G)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000100209
AA Change: D407G

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: D407G

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

0.0845

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	probably benign	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
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
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'- GAATCAGCTGCTCAGATCTGC -3'
(R):5'- GGGTCCTTGAAAATACTGCCTTTAC -3'

Sequencing Primer
(F):5'- TCTTGAGTTGTTCCCACATGG -3'
(R):5'- CCTTGAAAATACTGCCTTTACAGGGG -3'

Posted On

2021-03-08