Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Fam186a'

717187

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: 0.059) question?

Stock #

R9495 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99816229-99864942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99844766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 493 (S493P)

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: S493P

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: S493P

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: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,842 (GRCm39)	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl2fm1	T	C	3: 59,840,114 (GRCm39)	I62T	possibly damaging	Het
Acp5	G	A	9: 22,038,483 (GRCm39)	Q273*	probably null	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,835,660 (GRCm39)	N468K	probably damaging	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Bphl	A	T	13: 34,234,312 (GRCm39)	I143L	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cemip2	T	A	19: 21,779,249 (GRCm39)	V353D	probably damaging	Het
Cfap96	C	T	8: 46,409,458 (GRCm39)	S287N	probably damaging	Het
Colec10	A	G	15: 54,325,761 (GRCm39)	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,433,795 (GRCm39)	M759T	probably benign	Het
Ctc1	A	G	11: 68,913,593 (GRCm39)	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,345,208 (GRCm39)	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Erv3	C	A	2: 131,697,975 (GRCm39)	W128L	possibly damaging	Het
Fbn1	A	T	2: 125,160,984 (GRCm39)	N2185K	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Gemin4	A	G	11: 76,101,749 (GRCm39)	L1004P	probably damaging	Het
Gm11937	T	C	11: 99,500,646 (GRCm39)	T124A	unknown	Het
Gm17669	G	T	18: 67,695,682 (GRCm39)	V76L	probably benign	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hcls1	A	T	16: 36,777,702 (GRCm39)	M274L	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Lrrc41	T	A	4: 115,932,806 (GRCm39)		probably null	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mix23	A	G	16: 35,892,491 (GRCm39)	E12G	probably benign	Het
Muc6	T	A	7: 141,237,398 (GRCm39)	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 19,760,462 (GRCm39)	K624N	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4d2	C	T	11: 87,784,082 (GRCm39)	V223M	probably benign	Het
Or6e1	T	C	14: 54,520,137 (GRCm39)	T72A	probably damaging	Het
Otud4	T	C	8: 80,400,087 (GRCm39)	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pdc	T	C	1: 150,208,919 (GRCm39)	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkn1	C	T	8: 84,410,799 (GRCm39)	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Podn	C	T	4: 107,876,106 (GRCm39)	V517I	probably benign	Het
Pomk	T	C	8: 26,473,344 (GRCm39)	D203G	probably damaging	Het
Ppil4	A	G	10: 7,675,355 (GRCm39)	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,354,647 (GRCm39)	I276T	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Rbm12	G	T	2: 155,939,738 (GRCm39)	T178K	unknown	Het
Sctr	T	C	1: 119,959,403 (GRCm39)		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,066,744 (GRCm39)		probably benign	Het
Spata31e4	T	A	13: 50,855,465 (GRCm39)	S368T	possibly damaging	Het
Steap1	A	T	5: 5,786,458 (GRCm39)	D326E	probably damaging	Het
Stra6	G	A	9: 58,059,175 (GRCm39)	V513I	probably benign	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tcea3	T	A	4: 135,991,885 (GRCm39)	C190S	probably damaging	Het
Tfr2	G	A	5: 137,572,701 (GRCm39)	V171I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tmem87b	T	C	2: 128,660,353 (GRCm39)	L32P	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Ulbp1	C	A	10: 7,406,371 (GRCm39)	M196I	probably benign	Het
Vash1	G	A	12: 86,738,663 (GRCm39)	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Vta1	A	G	10: 14,531,583 (GRCm39)	I264T	probably benign	Het
Zcchc8	A	T	5: 123,838,633 (GRCm39)	M635K	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
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
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
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'- TACTGAAGTCACCTTAGAAGTCTTGG -3'
(R):5'- AACTCAAAGGCCTGCCACTG -3'

Sequencing Primer
(F):5'- GGGTTGTAACTTACCAGACCG -3'
(R):5'- CCACTGACAGAGGAGACCTTG -3'

Posted On

2022-07-18