Mutagenetix > Incidental Mutation

Incidental Mutation 'R9282:Fam186a'

703708

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

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99918348-99967061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99941998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 2122 (Y2122H)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000100209
AA Change: Y2122H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: Y2122H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	G	A	16: 56,620,504 (GRCm38)	V701M	unknown	Het
Adam2	G	A	14: 66,029,789 (GRCm38)	P674S	probably benign	Het
Adam24	T	A	8: 40,680,635 (GRCm38)	Y381N	probably damaging	Het
Adgrv1	A	G	13: 81,103,372 (GRCm38)	S6209P	probably damaging	Het
Aox4	A	T	1: 58,245,869 (GRCm38)	K593N	possibly damaging	Het
Aqp3	A	G	4: 41,093,640 (GRCm38)	V258A	possibly damaging	Het
Atg16l1	T	A	1: 87,780,184 (GRCm38)	F390I	possibly damaging	Het
B4galt6	T	A	18: 20,692,452 (GRCm38)	Y239F	possibly damaging	Het
Cmtr2	T	C	8: 110,222,345 (GRCm38)	M429T	probably benign	Het
Col5a2	C	G	1: 45,438,869 (GRCm38)		probably null	Het
Dcc	T	C	18: 71,682,178 (GRCm38)	D375G	possibly damaging	Het
Dnah14	T	C	1: 181,814,512 (GRCm38)	Y31H		Het
Fam131a	G	A	16: 20,701,493 (GRCm38)	R232H	possibly damaging	Het
Focad	A	T	4: 88,196,822 (GRCm38)	I421F	unknown	Het
Fscb	T	G	12: 64,473,323 (GRCm38)	E456D	possibly damaging	Het
Furin	C	A	7: 80,391,098 (GRCm38)	S664I	probably benign	Het
Ganc	A	G	2: 120,459,900 (GRCm38)	E906G	probably benign	Het
Gdf5	C	G	2: 155,941,995 (GRCm38)	D346H	probably damaging	Het
Golga4	T	C	9: 118,556,825 (GRCm38)	L1005P	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,508 (GRCm38)	N183S	probably benign	Het
Itpr1	T	A	6: 108,394,023 (GRCm38)	F1084I	probably damaging	Het
Katnal1	A	T	5: 148,894,211 (GRCm38)	Y184*	probably null	Het
Lrrc37a	A	G	11: 103,500,807 (GRCm38)	I1264T	probably benign	Het
Map3k2	T	A	18: 32,209,752 (GRCm38)	M234K	probably damaging	Het
Mcm3ap	T	A	10: 76,506,518 (GRCm38)	V1615E	probably damaging	Het
Mkrn2	A	G	6: 115,614,573 (GRCm38)		probably null	Het
Nicn1	C	T	9: 108,294,509 (GRCm38)	R163C	possibly damaging	Het
Nradd	T	A	9: 110,621,683 (GRCm38)	Q142L	possibly damaging	Het
Olfr689	T	C	7: 105,314,574 (GRCm38)	I190T	probably benign	Het
Ophn1	G	A	X: 98,578,539 (GRCm38)	T668M	probably benign	Het
Pdzd7	A	G	19: 45,040,183 (GRCm38)	F174L	probably damaging	Het
Pi4k2b	C	T	5: 52,743,537 (GRCm38)	T99I	probably benign	Het
Pigv	A	T	4: 133,664,662 (GRCm38)	V399D	probably damaging	Het
Pla2g4a	C	A	1: 149,871,456 (GRCm38)	L326F	probably damaging	Het
Psmg1	T	C	16: 95,989,517 (GRCm38)	I73M	probably damaging	Het
Rcl1	T	C	19: 29,115,770 (GRCm38)	S62P	probably damaging	Het
Slc23a4	T	A	6: 34,978,926 (GRCm38)	I58F	probably damaging	Het
Slc36a2	G	T	11: 55,170,011 (GRCm38)	T191K	probably benign	Het
Sorbs2	T	G	8: 45,795,737 (GRCm38)	V675G	probably benign	Het
Tbc1d30	T	C	10: 121,306,223 (GRCm38)		probably null	Het
Tbc1d4	A	G	14: 101,608,180 (GRCm38)	V94A	possibly damaging	Het
Tdrd5	T	C	1: 156,277,460 (GRCm38)	Y532C	probably benign	Het
Tll2	T	A	19: 41,086,333 (GRCm38)	I931L	probably benign	Het
Tlr3	T	C	8: 45,398,606 (GRCm38)	N418S	probably benign	Het
Tmco1	C	T	1: 167,308,563 (GRCm38)		probably benign	Het
Tshr	T	A	12: 91,507,744 (GRCm38)	M164K	possibly damaging	Het
Ttc21b	A	G	2: 66,226,005 (GRCm38)	V679A	possibly damaging	Het
Ttn	A	G	2: 76,900,517 (GRCm38)	Y4951H	unknown	Het
Usf1	T	A	1: 171,415,805 (GRCm38)	V50D	possibly damaging	Het
Utp6	A	T	11: 79,936,025 (GRCm38)	M575K	probably benign	Het
Vmn1r197	A	T	13: 22,328,438 (GRCm38)	R176S	possibly damaging	Het
Vmn2r104	A	T	17: 20,040,836 (GRCm38)	F442I	probably damaging	Het
Vmn2r94	A	G	17: 18,277,489 (GRCm38)	F7S	possibly damaging	Het
Vps41	G	T	13: 18,829,231 (GRCm38)	E340*	probably null	Het

Other mutations in Fam186a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Fam186a	APN	15	99,927,691 (GRCm38)	splice site	probably benign
IGL03047:Fam186a	UTSW	15	99,945,708 (GRCm38)	missense	unknown
R0172:Fam186a	UTSW	15	99,954,887 (GRCm38)	missense	unknown
R0194:Fam186a	UTSW	15	99,941,763 (GRCm38)	missense	possibly damaging	0.92
R0381:Fam186a	UTSW	15	99,942,174 (GRCm38)	missense	probably damaging	0.97
R0799:Fam186a	UTSW	15	99,942,012 (GRCm38)	missense	probably damaging	1.00
R1295:Fam186a	UTSW	15	99,939,789 (GRCm38)	splice site	probably benign
R1366:Fam186a	UTSW	15	99,943,389 (GRCm38)	missense	possibly damaging	0.89
R1519:Fam186a	UTSW	15	99,947,655 (GRCm38)	missense	unknown
R1592:Fam186a	UTSW	15	99,940,318 (GRCm38)	missense	probably benign	0.01
R1636:Fam186a	UTSW	15	99,941,658 (GRCm38)	missense	unknown
R1719:Fam186a	UTSW	15	99,942,346 (GRCm38)	missense	possibly damaging	0.54
R1759:Fam186a	UTSW	15	99,966,881 (GRCm38)	nonsense	probably null
R1856:Fam186a	UTSW	15	99,940,302 (GRCm38)	missense	possibly damaging	0.82
R2131:Fam186a	UTSW	15	99,933,676 (GRCm38)	unclassified	probably benign
R2192:Fam186a	UTSW	15	99,940,311 (GRCm38)	missense	possibly damaging	0.90
R2239:Fam186a	UTSW	15	99,954,864 (GRCm38)	missense	unknown
R2251:Fam186a	UTSW	15	99,945,097 (GRCm38)	missense	probably benign	0.02
R2902:Fam186a	UTSW	15	99,945,168 (GRCm38)	missense	possibly damaging	0.73
R3037:Fam186a	UTSW	15	99,943,794 (GRCm38)	missense	probably damaging	0.99
R3744:Fam186a	UTSW	15	99,947,535 (GRCm38)	missense	unknown
R4021:Fam186a	UTSW	15	99,941,799 (GRCm38)	missense	possibly damaging	0.66
R4183:Fam186a	UTSW	15	99,933,685 (GRCm38)	unclassified	probably benign
R4238:Fam186a	UTSW	15	99,943,642 (GRCm38)	missense	probably benign	0.05
R4667:Fam186a	UTSW	15	99,944,532 (GRCm38)	missense	possibly damaging	0.92
R4817:Fam186a	UTSW	15	99,933,538 (GRCm38)	unclassified	probably benign
R4835:Fam186a	UTSW	15	99,945,808 (GRCm38)	missense	unknown
R4837:Fam186a	UTSW	15	99,940,797 (GRCm38)	missense	unknown
R4897:Fam186a	UTSW	15	99,945,277 (GRCm38)	missense	possibly damaging	0.66
R4902:Fam186a	UTSW	15	99,946,842 (GRCm38)	missense	unknown
R4950:Fam186a	UTSW	15	99,941,653 (GRCm38)	missense	unknown
R4995:Fam186a	UTSW	15	99,945,099 (GRCm38)	missense	probably benign	0.27
R5062:Fam186a	UTSW	15	99,944,646 (GRCm38)	missense	possibly damaging	0.66
R5124:Fam186a	UTSW	15	99,943,096 (GRCm38)	missense	possibly damaging	0.90
R5133:Fam186a	UTSW	15	99,955,493 (GRCm38)	missense	unknown
R5424:Fam186a	UTSW	15	99,945,763 (GRCm38)	missense	unknown
R5624:Fam186a	UTSW	15	99,941,747 (GRCm38)	missense	possibly damaging	0.90
R5628:Fam186a	UTSW	15	99,941,747 (GRCm38)	missense	possibly damaging	0.90
R5637:Fam186a	UTSW	15	99,941,747 (GRCm38)	missense	possibly damaging	0.90
R5639:Fam186a	UTSW	15	99,947,050 (GRCm38)	missense	unknown
R5652:Fam186a	UTSW	15	99,945,372 (GRCm38)	missense	possibly damaging	0.79
R5673:Fam186a	UTSW	15	99,941,747 (GRCm38)	missense	possibly damaging	0.90
R5799:Fam186a	UTSW	15	99,966,824 (GRCm38)	nonsense	probably null
R5965:Fam186a	UTSW	15	99,945,097 (GRCm38)	missense	probably benign	0.37
R6044:Fam186a	UTSW	15	99,941,997 (GRCm38)	missense	probably damaging	0.97
R6077:Fam186a	UTSW	15	99,942,703 (GRCm38)	missense	possibly damaging	0.46
R6120:Fam186a	UTSW	15	99,940,363 (GRCm38)	missense	probably benign	0.00
R6185:Fam186a	UTSW	15	99,947,649 (GRCm38)	missense	unknown
R6186:Fam186a	UTSW	15	99,947,325 (GRCm38)	missense	unknown
R6242:Fam186a	UTSW	15	99,939,907 (GRCm38)	missense	unknown
R6351:Fam186a	UTSW	15	99,941,742 (GRCm38)	missense	probably damaging	0.97
R6368:Fam186a	UTSW	15	99,943,317 (GRCm38)	missense	possibly damaging	0.66
R6369:Fam186a	UTSW	15	99,947,331 (GRCm38)	missense	unknown
R6559:Fam186a	UTSW	15	99,944,475 (GRCm38)	missense	possibly damaging	0.46
R6855:Fam186a	UTSW	15	99,954,875 (GRCm38)	missense	unknown
R6867:Fam186a	UTSW	15	99,945,850 (GRCm38)	missense	unknown
R6957:Fam186a	UTSW	15	99,946,476 (GRCm38)	missense	unknown
R6961:Fam186a	UTSW	15	99,940,201 (GRCm38)	missense	probably benign	0.16
R6994:Fam186a	UTSW	15	99,942,466 (GRCm38)	missense	probably benign	0.35
R6996:Fam186a	UTSW	15	99,955,493 (GRCm38)	missense	unknown
R7062:Fam186a	UTSW	15	99,933,640 (GRCm38)	unclassified	probably benign
R7064:Fam186a	UTSW	15	99,941,676 (GRCm38)	missense	unknown
R7173:Fam186a	UTSW	15	99,945,650 (GRCm38)	missense	unknown
R7244:Fam186a	UTSW	15	99,946,392 (GRCm38)	missense	unknown
R7270:Fam186a	UTSW	15	99,944,152 (GRCm38)	missense	possibly damaging	0.66
R7410:Fam186a	UTSW	15	99,946,945 (GRCm38)	nonsense	probably null
R7437:Fam186a	UTSW	15	99,942,894 (GRCm38)	missense	probably damaging	1.00
R7475:Fam186a	UTSW	15	99,947,514 (GRCm38)	missense	unknown
R7487:Fam186a	UTSW	15	99,942,136 (GRCm38)	missense	possibly damaging	0.66
R7526:Fam186a	UTSW	15	99,941,915 (GRCm38)	missense	possibly damaging	0.83
R7650:Fam186a	UTSW	15	99,939,907 (GRCm38)	missense	unknown
R7658:Fam186a	UTSW	15	99,939,844 (GRCm38)	missense	unknown
R7663:Fam186a	UTSW	15	99,945,069 (GRCm38)	missense	probably benign	0.00
R7703:Fam186a	UTSW	15	99,954,797 (GRCm38)	missense	unknown
R7814:Fam186a	UTSW	15	99,944,664 (GRCm38)	missense	possibly damaging	0.92
R7958:Fam186a	UTSW	15	99,943,308 (GRCm38)	missense	probably damaging	0.99
R7970:Fam186a	UTSW	15	99,933,586 (GRCm38)	missense	unknown
R8076:Fam186a	UTSW	15	99,943,470 (GRCm38)	missense	possibly damaging	0.83
R8087:Fam186a	UTSW	15	99,941,844 (GRCm38)	missense	possibly damaging	0.46
R8130:Fam186a	UTSW	15	99,944,033 (GRCm38)	frame shift	probably null
R8239:Fam186a	UTSW	15	99,941,310 (GRCm38)	missense	unknown
R8246:Fam186a	UTSW	15	99,940,547 (GRCm38)	missense	unknown
R8446:Fam186a	UTSW	15	99,947,454 (GRCm38)	missense	unknown
R8469:Fam186a	UTSW	15	99,947,305 (GRCm38)	missense	unknown
R8676:Fam186a	UTSW	15	99,947,142 (GRCm38)	missense	unknown
R8790:Fam186a	UTSW	15	99,943,143 (GRCm38)	missense	possibly damaging	0.90
R8808:Fam186a	UTSW	15	99,944,723 (GRCm38)	missense	possibly damaging	0.83
R8848:Fam186a	UTSW	15	99,940,153 (GRCm38)	missense	possibly damaging	0.83
R9083:Fam186a	UTSW	15	99,945,198 (GRCm38)	missense	probably benign	0.27
R9106:Fam186a	UTSW	15	99,946,226 (GRCm38)	small deletion	probably benign
R9116:Fam186a	UTSW	15	99,942,591 (GRCm38)	missense	possibly damaging	0.95
R9156:Fam186a	UTSW	15	99,943,278 (GRCm38)	missense	possibly damaging	0.46
R9227:Fam186a	UTSW	15	99,955,503 (GRCm38)	missense	unknown
R9250:Fam186a	UTSW	15	99,947,449 (GRCm38)	missense	unknown
R9495:Fam186a	UTSW	15	99,946,885 (GRCm38)	missense	unknown
R9514:Fam186a	UTSW	15	99,946,885 (GRCm38)	missense	unknown
R9521:Fam186a	UTSW	15	99,943,590 (GRCm38)	missense	probably damaging	0.97
R9553:Fam186a	UTSW	15	99,946,680 (GRCm38)	missense	unknown
R9641:Fam186a	UTSW	15	99,940,363 (GRCm38)	missense	probably benign	0.00
R9655:Fam186a	UTSW	15	99,943,092 (GRCm38)	missense	probably damaging	0.99
R9661:Fam186a	UTSW	15	99,944,611 (GRCm38)	missense	possibly damaging	0.66
R9673:Fam186a	UTSW	15	99,943,143 (GRCm38)	missense	possibly damaging	0.90
R9762:Fam186a	UTSW	15	99,944,512 (GRCm38)	missense	possibly damaging	0.66
X0021:Fam186a	UTSW	15	99,945,435 (GRCm38)	missense	probably benign	0.00
Z1088:Fam186a	UTSW	15	99,945,994 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAGGTGTGAGAGCAATCCC -3'
(R):5'- CCTTAAGCAGGCTGAAGCTG -3'

Sequencing Primer
(F):5'- TGTGAGAGCAATCCCCAGAGC -3'
(R):5'- GCTGAAGCTGTGGGAATCATTCC -3'

Posted On

2022-03-25