Mutagenetix > Incidental Mutation

Incidental Mutation 'R0172:Fam186a'

24295

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

038444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0172 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

99816229-99864942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99852768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 150 (M150K)

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: M150K

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: M150K

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

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

82% (40/49)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,578 (GRCm39)	C488S	probably damaging	Het
Abca12	T	G	1: 71,318,561 (GRCm39)	D1814A	probably damaging	Het
Acp7	T	C	7: 28,314,549 (GRCm39)	N272S	possibly damaging	Het
Ank3	T	C	10: 69,811,888 (GRCm39)	V1145A	probably damaging	Het
Ap1m2	A	T	9: 21,209,628 (GRCm39)		probably null	Het
Atp12a	T	C	14: 56,610,301 (GRCm39)	V224A	probably damaging	Het
Cdh23	T	C	10: 60,155,411 (GRCm39)	E2253G	probably damaging	Het
Cep350	T	C	1: 155,829,193 (GRCm39)	N237S	probably benign	Het
Crispld2	T	C	8: 120,752,810 (GRCm39)	V286A	possibly damaging	Het
Cyp2c65	G	T	19: 39,076,100 (GRCm39)	V351L	possibly damaging	Het
D130043K22Rik	T	C	13: 25,056,389 (GRCm39)	F574L	probably benign	Het
Dag1	G	A	9: 108,086,031 (GRCm39)	T370M	possibly damaging	Het
Dmwd	C	T	7: 18,814,267 (GRCm39)	R306C	probably damaging	Het
Dnah11	T	C	12: 117,951,188 (GRCm39)	Y3040C	probably damaging	Het
Dst	C	A	1: 34,309,935 (GRCm39)	H1536Q	probably damaging	Het
Eif3j1	A	G	2: 121,882,246 (GRCm39)	I202V	probably benign	Het
Epg5	T	A	18: 78,070,574 (GRCm39)	V2283D	probably benign	Het
Evi5	T	C	5: 107,938,328 (GRCm39)	N625S	probably benign	Het
Exosc10	T	C	4: 148,649,814 (GRCm39)	S415P	probably benign	Het
F830016B08Rik	G	T	18: 60,433,036 (GRCm39)	D40Y	possibly damaging	Het
Fam118a	A	G	15: 84,929,951 (GRCm39)	I60V	probably benign	Het
Fam193a	C	T	5: 34,622,957 (GRCm39)	R1182W	probably damaging	Het
Fastkd2	T	A	1: 63,771,187 (GRCm39)	I181K	possibly damaging	Het
Hip1r	T	A	5: 124,135,003 (GRCm39)	Y380N	possibly damaging	Het
Hivep2	C	A	10: 14,015,218 (GRCm39)	P1795Q	probably damaging	Het
Hnrnpab	T	C	11: 51,493,494 (GRCm39)	E238G	probably damaging	Het
Kcnma1	C	T	14: 23,853,234 (GRCm39)	A172T	probably damaging	Het
Lipg	G	T	18: 75,081,245 (GRCm39)	H279N	possibly damaging	Het
Lrrc9	A	G	12: 72,510,260 (GRCm39)	D453G	possibly damaging	Het
Map1s	T	A	8: 71,367,612 (GRCm39)	M839K	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Myo1h	T	A	5: 114,467,225 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nrn1	T	C	13: 36,914,544 (GRCm39)	R19G	probably benign	Het
Nwd2	T	C	5: 63,963,712 (GRCm39)	Y1099H	probably benign	Het
Nxpe2	G	A	9: 48,231,209 (GRCm39)	R387C	possibly damaging	Het
Or2a25	T	C	6: 42,888,913 (GRCm39)	V152A	probably benign	Het
Pappa2	C	T	1: 158,682,419 (GRCm39)		probably null	Het
Pcdhb13	A	T	18: 37,575,990 (GRCm39)	I123L	probably benign	Het
Plcg2	A	G	8: 118,306,521 (GRCm39)	T292A	probably benign	Het
Pnpla8	T	A	12: 44,358,111 (GRCm39)	V469D	probably damaging	Het
Pop4	T	C	7: 37,962,679 (GRCm39)	Y195C	probably damaging	Het
Rbsn	A	T	6: 92,188,588 (GRCm39)	D42E	probably damaging	Het
Sclt1	A	T	3: 41,672,222 (GRCm39)	I123N	possibly damaging	Het
Slc22a27	C	A	19: 7,843,201 (GRCm39)	G393*	probably null	Het
Smu1	C	T	4: 40,738,439 (GRCm39)	V432I	probably benign	Het
Sohlh1	A	G	2: 25,736,215 (GRCm39)		probably null	Het
Spta1	T	A	1: 174,058,352 (GRCm39)	I1940K	probably damaging	Het
Sufu	G	T	19: 46,385,563 (GRCm39)	V8F	possibly damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem184b	A	G	15: 79,262,740 (GRCm39)	V39A	possibly damaging	Het
Tmem236	A	G	2: 14,223,694 (GRCm39)	D161G	probably benign	Het
Ufl1	T	C	4: 25,280,685 (GRCm39)	K54R	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het

Other mutations in Fam186a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Fam186a	APN	15	99,825,572 (GRCm39)	splice site	probably benign
IGL03047:Fam186a	UTSW	15	99,843,589 (GRCm39)	missense	unknown
R0194:Fam186a	UTSW	15	99,839,644 (GRCm39)	missense	possibly damaging	0.92
R0381:Fam186a	UTSW	15	99,840,055 (GRCm39)	missense	probably damaging	0.97
R0799:Fam186a	UTSW	15	99,839,893 (GRCm39)	missense	probably damaging	1.00
R1295:Fam186a	UTSW	15	99,837,670 (GRCm39)	splice site	probably benign
R1366:Fam186a	UTSW	15	99,841,270 (GRCm39)	missense	possibly damaging	0.89
R1519:Fam186a	UTSW	15	99,845,536 (GRCm39)	missense	unknown
R1592:Fam186a	UTSW	15	99,838,199 (GRCm39)	missense	probably benign	0.01
R1636:Fam186a	UTSW	15	99,839,539 (GRCm39)	missense	unknown
R1719:Fam186a	UTSW	15	99,840,227 (GRCm39)	missense	possibly damaging	0.54
R1759:Fam186a	UTSW	15	99,864,762 (GRCm39)	nonsense	probably null
R1856:Fam186a	UTSW	15	99,838,183 (GRCm39)	missense	possibly damaging	0.82
R2131:Fam186a	UTSW	15	99,831,557 (GRCm39)	unclassified	probably benign
R2192:Fam186a	UTSW	15	99,838,192 (GRCm39)	missense	possibly damaging	0.90
R2239:Fam186a	UTSW	15	99,852,745 (GRCm39)	missense	unknown
R2251:Fam186a	UTSW	15	99,842,978 (GRCm39)	missense	probably benign	0.02
R2902:Fam186a	UTSW	15	99,843,049 (GRCm39)	missense	possibly damaging	0.73
R3037:Fam186a	UTSW	15	99,841,675 (GRCm39)	missense	probably damaging	0.99
R3744:Fam186a	UTSW	15	99,845,416 (GRCm39)	missense	unknown
R4021:Fam186a	UTSW	15	99,839,680 (GRCm39)	missense	possibly damaging	0.66
R4183:Fam186a	UTSW	15	99,831,566 (GRCm39)	unclassified	probably benign
R4238:Fam186a	UTSW	15	99,841,523 (GRCm39)	missense	probably benign	0.05
R4667:Fam186a	UTSW	15	99,842,413 (GRCm39)	missense	possibly damaging	0.92
R4817:Fam186a	UTSW	15	99,831,419 (GRCm39)	unclassified	probably benign
R4835:Fam186a	UTSW	15	99,843,689 (GRCm39)	missense	unknown
R4837:Fam186a	UTSW	15	99,838,678 (GRCm39)	missense	unknown
R4897:Fam186a	UTSW	15	99,843,158 (GRCm39)	missense	possibly damaging	0.66
R4902:Fam186a	UTSW	15	99,844,723 (GRCm39)	missense	unknown
R4950:Fam186a	UTSW	15	99,839,534 (GRCm39)	missense	unknown
R4995:Fam186a	UTSW	15	99,842,980 (GRCm39)	missense	probably benign	0.27
R5062:Fam186a	UTSW	15	99,842,527 (GRCm39)	missense	possibly damaging	0.66
R5124:Fam186a	UTSW	15	99,840,977 (GRCm39)	missense	possibly damaging	0.90
R5133:Fam186a	UTSW	15	99,853,374 (GRCm39)	missense	unknown
R5424:Fam186a	UTSW	15	99,843,644 (GRCm39)	missense	unknown
R5624:Fam186a	UTSW	15	99,839,628 (GRCm39)	missense	possibly damaging	0.90
R5628:Fam186a	UTSW	15	99,839,628 (GRCm39)	missense	possibly damaging	0.90
R5637:Fam186a	UTSW	15	99,839,628 (GRCm39)	missense	possibly damaging	0.90
R5639:Fam186a	UTSW	15	99,844,931 (GRCm39)	missense	unknown
R5652:Fam186a	UTSW	15	99,843,253 (GRCm39)	missense	possibly damaging	0.79
R5673:Fam186a	UTSW	15	99,839,628 (GRCm39)	missense	possibly damaging	0.90
R5799:Fam186a	UTSW	15	99,864,705 (GRCm39)	nonsense	probably null
R5965:Fam186a	UTSW	15	99,842,978 (GRCm39)	missense	probably benign	0.37
R6044:Fam186a	UTSW	15	99,839,878 (GRCm39)	missense	probably damaging	0.97
R6077:Fam186a	UTSW	15	99,840,584 (GRCm39)	missense	possibly damaging	0.46
R6120:Fam186a	UTSW	15	99,838,244 (GRCm39)	missense	probably benign	0.00
R6185:Fam186a	UTSW	15	99,845,530 (GRCm39)	missense	unknown
R6186:Fam186a	UTSW	15	99,845,206 (GRCm39)	missense	unknown
R6242:Fam186a	UTSW	15	99,837,788 (GRCm39)	missense	unknown
R6351:Fam186a	UTSW	15	99,839,623 (GRCm39)	missense	probably damaging	0.97
R6368:Fam186a	UTSW	15	99,841,198 (GRCm39)	missense	possibly damaging	0.66
R6369:Fam186a	UTSW	15	99,845,212 (GRCm39)	missense	unknown
R6559:Fam186a	UTSW	15	99,842,356 (GRCm39)	missense	possibly damaging	0.46
R6855:Fam186a	UTSW	15	99,852,756 (GRCm39)	missense	unknown
R6867:Fam186a	UTSW	15	99,843,731 (GRCm39)	missense	unknown
R6957:Fam186a	UTSW	15	99,844,357 (GRCm39)	missense	unknown
R6961:Fam186a	UTSW	15	99,838,082 (GRCm39)	missense	probably benign	0.16
R6994:Fam186a	UTSW	15	99,840,347 (GRCm39)	missense	probably benign	0.35
R6996:Fam186a	UTSW	15	99,853,374 (GRCm39)	missense	unknown
R7062:Fam186a	UTSW	15	99,831,521 (GRCm39)	unclassified	probably benign
R7064:Fam186a	UTSW	15	99,839,557 (GRCm39)	missense	unknown
R7173:Fam186a	UTSW	15	99,843,531 (GRCm39)	missense	unknown
R7244:Fam186a	UTSW	15	99,844,273 (GRCm39)	missense	unknown
R7270:Fam186a	UTSW	15	99,842,033 (GRCm39)	missense	possibly damaging	0.66
R7410:Fam186a	UTSW	15	99,844,826 (GRCm39)	nonsense	probably null
R7437:Fam186a	UTSW	15	99,840,775 (GRCm39)	missense	probably damaging	1.00
R7475:Fam186a	UTSW	15	99,845,395 (GRCm39)	missense	unknown
R7487:Fam186a	UTSW	15	99,840,017 (GRCm39)	missense	possibly damaging	0.66
R7526:Fam186a	UTSW	15	99,839,796 (GRCm39)	missense	possibly damaging	0.83
R7650:Fam186a	UTSW	15	99,837,788 (GRCm39)	missense	unknown
R7658:Fam186a	UTSW	15	99,837,725 (GRCm39)	missense	unknown
R7663:Fam186a	UTSW	15	99,842,950 (GRCm39)	missense	probably benign	0.00
R7703:Fam186a	UTSW	15	99,852,678 (GRCm39)	missense	unknown
R7814:Fam186a	UTSW	15	99,842,545 (GRCm39)	missense	possibly damaging	0.92
R7958:Fam186a	UTSW	15	99,841,189 (GRCm39)	missense	probably damaging	0.99
R7970:Fam186a	UTSW	15	99,831,467 (GRCm39)	missense	unknown
R8076:Fam186a	UTSW	15	99,841,351 (GRCm39)	missense	possibly damaging	0.83
R8087:Fam186a	UTSW	15	99,839,725 (GRCm39)	missense	possibly damaging	0.46
R8130:Fam186a	UTSW	15	99,841,914 (GRCm39)	frame shift	probably null
R8239:Fam186a	UTSW	15	99,839,191 (GRCm39)	missense	unknown
R8246:Fam186a	UTSW	15	99,838,428 (GRCm39)	missense	unknown
R8446:Fam186a	UTSW	15	99,845,335 (GRCm39)	missense	unknown
R8469:Fam186a	UTSW	15	99,845,186 (GRCm39)	missense	unknown
R8676:Fam186a	UTSW	15	99,845,023 (GRCm39)	missense	unknown
R8790:Fam186a	UTSW	15	99,841,024 (GRCm39)	missense	possibly damaging	0.90
R8808:Fam186a	UTSW	15	99,842,604 (GRCm39)	missense	possibly damaging	0.83
R8848:Fam186a	UTSW	15	99,838,034 (GRCm39)	missense	possibly damaging	0.83
R9083:Fam186a	UTSW	15	99,843,079 (GRCm39)	missense	probably benign	0.27
R9106:Fam186a	UTSW	15	99,844,107 (GRCm39)	small deletion	probably benign
R9116:Fam186a	UTSW	15	99,840,472 (GRCm39)	missense	possibly damaging	0.95
R9156:Fam186a	UTSW	15	99,841,159 (GRCm39)	missense	possibly damaging	0.46
R9227:Fam186a	UTSW	15	99,853,384 (GRCm39)	missense	unknown
R9250:Fam186a	UTSW	15	99,845,330 (GRCm39)	missense	unknown
R9282:Fam186a	UTSW	15	99,839,879 (GRCm39)	missense	probably damaging	0.97
R9495:Fam186a	UTSW	15	99,844,766 (GRCm39)	missense	unknown
R9514:Fam186a	UTSW	15	99,844,766 (GRCm39)	missense	unknown
R9521:Fam186a	UTSW	15	99,841,471 (GRCm39)	missense	probably damaging	0.97
R9553:Fam186a	UTSW	15	99,844,561 (GRCm39)	missense	unknown
R9641:Fam186a	UTSW	15	99,838,244 (GRCm39)	missense	probably benign	0.00
R9655:Fam186a	UTSW	15	99,840,973 (GRCm39)	missense	probably damaging	0.99
R9661:Fam186a	UTSW	15	99,842,492 (GRCm39)	missense	possibly damaging	0.66
R9673:Fam186a	UTSW	15	99,841,024 (GRCm39)	missense	possibly damaging	0.90
R9762:Fam186a	UTSW	15	99,842,393 (GRCm39)	missense	possibly damaging	0.66
X0021:Fam186a	UTSW	15	99,843,316 (GRCm39)	missense	probably benign	0.00
Z1088:Fam186a	UTSW	15	99,843,875 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCTTGCCTCAAAATCCATGAGACTC -3'
(R):5'- TGCTTGCTCAGGTCAACCCAAATAC -3'

Sequencing Primer
(F):5'- tgctcttgaccacggaac -3'
(R):5'- CAAGATAACTATTCCCCAGTGGAAC -3'

Posted On

2013-04-16