Mutagenetix > Incidental Mutation

Incidental Mutation 'R1636:Fam186a'

173206

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

039672-MU

Accession Numbers

Essential gene?

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

Stock #

R1636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99816229-99864942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99839539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2235 (T2235I)

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: T2235I

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: T2235I

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: ENSMUST00000104255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180309

Meta Mutation Damage Score

0.1358

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

96% (85/89)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Abca7	A	G	10: 79,844,832 (GRCm39)	H1518R	probably benign	Het
Adam4	A	G	12: 81,466,464 (GRCm39)	L719S	probably damaging	Het
Adprm	T	C	11: 66,932,549 (GRCm39)	Y120C	possibly damaging	Het
Arhgap25	T	A	6: 87,472,923 (GRCm39)	Y78F	probably damaging	Het
Asap1	G	A	15: 63,995,761 (GRCm39)	P665L	probably damaging	Het
Bank1	T	C	3: 135,788,987 (GRCm39)	K637R	probably damaging	Het
Bcr	T	A	10: 74,966,898 (GRCm39)	L502M	probably damaging	Het
Brwd1	A	G	16: 95,860,841 (GRCm39)	L315P	probably damaging	Het
Btbd7	A	T	12: 102,760,110 (GRCm39)	Y613N	probably damaging	Het
Cdca7l	G	A	12: 117,840,663 (GRCm39)	R395H	probably damaging	Het
Cftr	T	A	6: 18,226,156 (GRCm39)	I368K	probably damaging	Het
D6Wsu163e	T	C	6: 126,923,564 (GRCm39)	V150A	possibly damaging	Het
Ddx52	A	G	11: 83,846,169 (GRCm39)	T470A	probably damaging	Het
Def6	A	G	17: 28,442,892 (GRCm39)	E316G	possibly damaging	Het
Dip2a	A	T	10: 76,157,412 (GRCm39)	N64K	probably benign	Het
Dlgap4	G	T	2: 156,587,997 (GRCm39)	E631*	probably null	Het
Dner	T	C	1: 84,563,051 (GRCm39)	K190E	possibly damaging	Het
Eif2b4	T	A	5: 31,349,610 (GRCm39)		probably null	Het
Eif3a	A	T	19: 60,770,343 (GRCm39)	D119E	possibly damaging	Het
Ercc2	C	T	7: 19,121,049 (GRCm39)	T276M	possibly damaging	Het
Exoc1	A	G	5: 76,715,965 (GRCm39)	K830R	probably benign	Het
F2r	G	T	13: 95,740,400 (GRCm39)	Y378*	probably null	Het
Fmo3	T	G	1: 162,781,994 (GRCm39)	K453T	probably benign	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Galns	A	G	8: 123,330,955 (GRCm39)		probably benign	Het
Gm1818	T	C	12: 48,602,550 (GRCm39)		noncoding transcript	Het
Gm9955	C	A	18: 24,842,287 (GRCm39)		probably benign	Het
Immp2l	T	C	12: 41,750,470 (GRCm39)	V113A	probably damaging	Het
Iyd	T	A	10: 3,495,588 (GRCm39)	M82K	possibly damaging	Het
Kif21a	A	T	15: 90,869,008 (GRCm39)		probably benign	Het
Lipf	A	G	19: 33,953,935 (GRCm39)	D342G	probably damaging	Het
Lmbrd1	C	A	1: 24,786,011 (GRCm39)	Y435*	probably null	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mtrf1l	A	G	10: 5,763,265 (GRCm39)	S355P	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Neo1	T	C	9: 58,820,560 (GRCm39)	S788G	probably damaging	Het
Nfx1	T	G	4: 41,016,072 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,069,737 (GRCm39)	V546A	possibly damaging	Het
Nwd2	G	A	5: 63,964,900 (GRCm39)	V1495M	probably damaging	Het
Oaf	T	A	9: 43,150,621 (GRCm39)	I84F	probably benign	Het
Obscn	A	G	11: 59,013,463 (GRCm39)	F1153S	probably damaging	Het
Ofcc1	A	T	13: 40,333,904 (GRCm39)	C396S	possibly damaging	Het
Omg	A	G	11: 79,393,166 (GRCm39)	S231P	probably benign	Het
Or51a7	T	G	7: 102,614,898 (GRCm39)	I197S	possibly damaging	Het
Or8g35	T	C	9: 39,381,215 (GRCm39)	D269G	probably benign	Het
Pdcl3	A	G	1: 39,034,016 (GRCm39)	T53A	possibly damaging	Het
Pik3r2	A	T	8: 71,224,542 (GRCm39)	H244Q	probably benign	Het
Pinx1	A	T	14: 64,103,586 (GRCm39)	H55L	probably damaging	Het
Pwwp2b	T	A	7: 138,834,758 (GRCm39)	H66Q	probably benign	Het
Rell2	A	G	18: 38,091,132 (GRCm39)	D99G	probably damaging	Het
Reln	G	A	5: 22,203,681 (GRCm39)	A1191V	probably damaging	Het
Rprm	T	C	2: 53,975,316 (GRCm39)	M1V	probably null	Het
Sav1	A	C	12: 70,031,269 (GRCm39)	H84Q	probably benign	Het
Scamp5	T	C	9: 57,358,692 (GRCm39)	D28G	possibly damaging	Het
Selenbp2	G	A	3: 94,604,122 (GRCm39)	G9D	probably damaging	Het
Sh3tc2	T	C	18: 62,122,792 (GRCm39)	W518R	probably damaging	Het
Slc10a6	A	T	5: 103,777,012 (GRCm39)	N29K	probably benign	Het
Spindoc	C	A	19: 7,351,922 (GRCm39)	D142Y	probably damaging	Het
Spink12	T	A	18: 44,240,795 (GRCm39)	D60E	probably benign	Het
Sugt1	A	G	14: 79,825,422 (GRCm39)	I23V	probably benign	Het
Syne2	T	C	12: 76,051,506 (GRCm39)	C4079R	probably benign	Het
Tex15	T	G	8: 34,066,415 (GRCm39)	Y1948*	probably null	Het
Thoc2l	T	A	5: 104,668,616 (GRCm39)	M1046K	probably damaging	Het
Tln2	T	C	9: 67,213,814 (GRCm39)	E321G	probably damaging	Het
Tmem198b	A	G	10: 128,638,065 (GRCm39)	L166P	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ttn	T	A	2: 76,730,566 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,106,034 (GRCm39)	T690I	probably damaging	Het
Ush2a	T	C	1: 188,198,373 (GRCm39)	I1479T	possibly damaging	Het
Vcan	G	A	13: 89,851,786 (GRCm39)	T1058I	possibly damaging	Het
Vmn1r84	T	C	7: 12,096,522 (GRCm39)	Q45R	probably benign	Het
Vmn2r111	T	C	17: 22,790,380 (GRCm39)	N209D	probably damaging	Het
Wbp1l	A	G	19: 46,632,883 (GRCm39)	Y40C	probably damaging	Het
Wdr72	A	T	9: 74,086,907 (GRCm39)	H625L	probably benign	Het
Zeb2	T	C	2: 44,892,623 (GRCm39)	Y195C	probably damaging	Het
Zkscan6	C	T	11: 65,705,256 (GRCm39)		probably benign	Het
Zmym6	C	A	4: 127,017,560 (GRCm39)	H1022N	probably damaging	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
R0172:Fam186a	UTSW	15	99,852,768 (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
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'- AGCTCCAAATGCCTGGAATGGTTG -3'
(R):5'- AGTTTCCCCACTAAGGAGACCCTG -3'

Sequencing Primer
(F):5'- AATGCCTGGAATGGTTGGGTAG -3'
(R):5'- GGGAGTCATTCTTACTCCTGAACAG -3'

Posted On

2014-04-24