Mutagenetix > Incidental Mutation

Incidental Mutation 'R7475:Fam186a'

579448

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

045549-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99816229-99864942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99845395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 283 (V283E)

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: V283E

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: V283E

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

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,739 (GRCm39)	N214K	probably benign	Het
Abcf1	A	G	17: 36,274,459 (GRCm39)		probably null	Het
Agxt2	A	T	15: 10,409,623 (GRCm39)	M508L	probably benign	Het
Akr1c21	A	T	13: 4,626,318 (GRCm39)	Y114F	probably benign	Het
Amz1	T	C	5: 140,729,941 (GRCm39)		probably null	Het
Ank1	G	T	8: 23,622,646 (GRCm39)	A1732S	probably benign	Het
Atg16l1	T	C	1: 87,687,805 (GRCm39)	S50P	possibly damaging	Het
AW551984	A	G	9: 39,509,236 (GRCm39)	S302P	probably damaging	Het
Ccn6	T	A	10: 39,034,296 (GRCm39)	Y102F	probably damaging	Het
Ces3a	T	A	8: 105,780,322 (GRCm39)		probably null	Het
Dedd	C	A	1: 171,167,881 (GRCm39)	P185Q	probably benign	Het
Fat2	C	A	11: 55,194,479 (GRCm39)	V1187F	probably benign	Het
Fbxw11	T	C	11: 32,661,999 (GRCm39)		probably null	Het
Fcgbp	C	T	7: 27,802,401 (GRCm39)	T1443I	probably damaging	Het
Foxj2	A	G	6: 122,814,801 (GRCm39)	D279G	probably benign	Het
Gbp5	A	G	3: 142,207,122 (GRCm39)	D97G	probably damaging	Het
Gm49368	A	T	7: 127,707,154 (GRCm39)	T661S	possibly damaging	Het
Gria4	T	G	9: 4,513,330 (GRCm39)	T260P	probably damaging	Het
Gtf2ird2	T	A	5: 134,230,267 (GRCm39)	D195E	possibly damaging	Het
Hectd4	T	A	5: 121,496,196 (GRCm39)		probably null	Het
Ifngr2	G	A	16: 91,354,797 (GRCm39)	C32Y	unknown	Het
Ikzf5	A	T	7: 130,993,788 (GRCm39)	C280S	probably benign	Het
Ints9	G	T	14: 65,263,914 (GRCm39)	E395D	probably null	Het
Isoc2b	T	C	7: 4,854,084 (GRCm39)	D96G	probably benign	Het
Jmjd1c	T	G	10: 67,061,092 (GRCm39)	S967R	probably benign	Het
Kcnj3	A	T	2: 55,327,338 (GRCm39)	K42N	probably benign	Het
Kiz	T	C	2: 146,733,006 (GRCm39)	V394A	possibly damaging	Het
Knl1	A	T	2: 118,918,027 (GRCm39)	H1795L	probably damaging	Het
Lmntd2	A	G	7: 140,790,602 (GRCm39)		probably null	Het
Loxhd1	C	A	18: 77,500,001 (GRCm39)	D1690E	possibly damaging	Het
Lrp1b	T	C	2: 41,234,588 (GRCm39)	D1121G		Het
Map3k2	T	C	18: 32,333,015 (GRCm39)	V63A	possibly damaging	Het
Mcc	G	T	18: 44,609,303 (GRCm39)	A499D	probably damaging	Het
Mcpt9	T	A	14: 56,264,400 (GRCm39)	I232F	probably damaging	Het
Meltf	A	G	16: 31,700,756 (GRCm39)	K92R	probably benign	Het
Mff	T	A	1: 82,723,159 (GRCm39)		probably null	Het
Mrgpra3	T	A	7: 47,239,695 (GRCm39)	Y77F	probably damaging	Het
Mylk	G	A	16: 34,734,446 (GRCm39)		probably null	Het
Ndufv2	A	G	17: 66,394,532 (GRCm39)	V111A	possibly damaging	Het
Nkd2	T	C	13: 73,973,861 (GRCm39)	E99G	probably damaging	Het
Nlk	C	A	11: 78,474,225 (GRCm39)	G358V	probably damaging	Het
Nnmt	A	T	9: 48,503,532 (GRCm39)	C165S	probably damaging	Het
Nxpe4	T	A	9: 48,304,640 (GRCm39)	C242*	probably null	Het
Oas1b	A	T	5: 120,955,705 (GRCm39)	N162I	probably damaging	Het
Or4s2	A	G	2: 88,473,554 (GRCm39)	I148V	probably benign	Het
Otog	A	G	7: 45,916,700 (GRCm39)	N879S	probably damaging	Het
Pcsk7	T	A	9: 45,838,923 (GRCm39)	Y612N	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgbd5	T	C	8: 125,160,750 (GRCm39)	D39G	probably benign	Het
Pkhd1l1	C	T	15: 44,368,581 (GRCm39)	Q800*	probably null	Het
Pkn3	T	C	2: 29,977,122 (GRCm39)	S621P	probably benign	Het
Polr3c	T	C	3: 96,622,501 (GRCm39)	I385V	probably benign	Het
Ppp1r21	G	T	17: 88,863,031 (GRCm39)	G257W	probably benign	Het
Prkn	A	G	17: 11,653,501 (GRCm39)	D199G	probably benign	Het
Pxylp1	C	T	9: 96,738,420 (GRCm39)		probably null	Het
Rasgrp1	T	C	2: 117,116,589 (GRCm39)	T613A	probably benign	Het
Robo3	C	T	9: 37,336,674 (GRCm39)	V387I	probably benign	Het
Rxfp2	T	A	5: 149,973,046 (GRCm39)	Y174N	possibly damaging	Het
Sec24a	T	C	11: 51,604,379 (GRCm39)	M746V	probably damaging	Het
Sema4f	T	A	6: 82,891,355 (GRCm39)	E571D	possibly damaging	Het
Septin3	T	C	15: 82,170,657 (GRCm39)	V217A	probably benign	Het
Serpinb1b	A	C	13: 33,277,548 (GRCm39)	K260N	probably benign	Het
Sin3b	A	G	8: 73,476,500 (GRCm39)	T645A	possibly damaging	Het
Sobp	C	T	10: 42,897,830 (GRCm39)	R585Q	probably damaging	Het
Specc1l	T	A	10: 75,082,281 (GRCm39)	L559Q	possibly damaging	Het
Srxn1	C	T	2: 151,947,573 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,432,794 (GRCm39)	R890Q	probably benign	Het
Stard9	A	G	2: 120,518,591 (GRCm39)	D505G	probably damaging	Het
Tjp1	A	T	7: 64,972,087 (GRCm39)	I653K	probably damaging	Het
Tnks	C	T	8: 35,298,866 (GRCm39)	E1296K	probably damaging	Het
Ttbk2	A	T	2: 120,579,121 (GRCm39)	I667N	probably benign	Het
Usp24	T	C	4: 106,199,550 (GRCm39)	S165P	possibly damaging	Het
Usp46	T	A	5: 74,189,598 (GRCm39)	K109*	probably null	Het
Vmn1r191	A	G	13: 22,362,942 (GRCm39)	C271R	probably benign	Het
Zfp592	T	C	7: 80,673,200 (GRCm39)	S55P	probably damaging	Het
Zmynd15	T	C	11: 70,351,867 (GRCm39)	S158P	probably benign	Het
Zscan22	T	G	7: 12,640,664 (GRCm39)	C303G	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
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
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'- TATTTTCAAGGACCCAGCCGG -3'
(R):5'- GCCCAAGCTTTAAGACTAGATCAG -3'

Sequencing Primer
(F):5'- TGTATCATCTGGCGTCCAAG -3'
(R):5'- CAGATGATTTTTGACCAGATCGGC -3'

Posted On

2019-10-07