Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Fam186a'

583023

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

045598-MU

Accession Numbers

Essential gene?

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

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99816229-99864942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 99839796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 2149 (I2149M)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100209
AA Change: I2149M

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: I2149M

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: 99.0%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,043,807 (GRCm39)	F85I	unknown	Het
Ankrd22	A	T	19: 34,126,765 (GRCm39)	W22R	possibly damaging	Het
Aqr	A	T	2: 113,938,590 (GRCm39)	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609 (GRCm39)	E791G	probably damaging	Het
Bicd1	T	G	6: 149,415,224 (GRCm39)	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,562,360 (GRCm39)	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,850 (GRCm39)	H465R	probably damaging	Het
Card11	A	T	5: 140,899,184 (GRCm39)		probably null	Het
Ccdc9	A	G	7: 16,016,325 (GRCm39)	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,800,771 (GRCm39)	M355K	probably benign	Het
Cnot2	A	T	10: 116,342,985 (GRCm39)	V116E	probably benign	Het
Defb48	A	G	14: 63,215,280 (GRCm39)	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,477,076 (GRCm39)	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,308,241 (GRCm39)	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,009,833 (GRCm39)	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,675,306 (GRCm39)	V71I	probably benign	Het
Dzip3	A	T	16: 48,795,837 (GRCm39)	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,550,308 (GRCm39)		probably null	Het
Eogt	A	G	6: 97,090,913 (GRCm39)	F409L	probably damaging	Het
Erich6	A	T	3: 58,538,110 (GRCm39)	L218H	probably damaging	Het
Fat1	G	A	8: 45,476,464 (GRCm39)	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,502,126 (GRCm39)	T501S	probably damaging	Het
Fmn1	A	C	2: 113,518,479 (GRCm39)	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,775,251 (GRCm39)	P170Q	probably benign	Het
Gm14326	G	A	2: 177,588,298 (GRCm39)	H233Y	probably damaging	Het
Gm19410	G	A	8: 36,257,766 (GRCm39)	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm2832	A	T	14: 41,002,919 (GRCm39)	I143L		Het
Greb1	G	A	12: 16,766,766 (GRCm39)	T344I	probably benign	Het
Grik2	A	T	10: 49,399,918 (GRCm39)	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,808,885 (GRCm39)	N212D	probably benign	Het
Hgsnat	A	G	8: 26,461,077 (GRCm39)	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,532,324 (GRCm39)	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,661,728 (GRCm39)	I96N	unknown	Het
Il18r1	T	A	1: 40,510,932 (GRCm39)	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,798 (GRCm39)	V80I	probably damaging	Het
Kif18b	T	C	11: 102,805,493 (GRCm39)	I255V	probably damaging	Het
Kif2c	A	T	4: 117,039,629 (GRCm39)	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,448,864 (GRCm39)	W572R	probably damaging	Het
Mybphl	A	G	3: 108,281,496 (GRCm39)	T71A	probably benign	Het
Myo7a	G	T	7: 97,734,655 (GRCm39)	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,805,715 (GRCm39)	S195P	probably damaging	Het
Nrg1	T	C	8: 32,308,351 (GRCm39)	N603S	probably benign	Het
Or52ae9	T	C	7: 103,389,607 (GRCm39)	Y280C	probably damaging	Het
Or8k22	A	T	2: 86,163,697 (GRCm39)	M1K	probably null	Het
Or8k37	A	G	2: 86,470,013 (GRCm39)	I13T	possibly damaging	Het
Parp8	T	C	13: 117,031,341 (GRCm39)	E457G	probably damaging	Het
Pclo	T	C	5: 14,571,076 (GRCm39)	F154L	probably benign	Het
Pear1	A	G	3: 87,659,875 (GRCm39)	S704P	probably damaging	Het
Pkib	A	G	10: 57,612,394 (GRCm39)	T92A	probably benign	Het
Pnpla7	A	G	2: 24,888,678 (GRCm39)	R376G	possibly damaging	Het
Pramel28	A	T	4: 143,692,387 (GRCm39)	C205S	probably benign	Het
Ptprd	T	A	4: 75,984,564 (GRCm39)	E527D	probably benign	Het
Pum1	T	C	4: 130,474,337 (GRCm39)	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,283 (GRCm39)	Q238*	probably null	Het
Scn9a	A	C	2: 66,313,990 (GRCm39)	N1909K	probably benign	Het
Sema3c	A	T	5: 17,932,594 (GRCm39)	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,566,927 (GRCm39)	C201S	probably damaging	Het
Serinc2	T	A	4: 130,152,583 (GRCm39)	D206V	probably benign	Het
Serping1	A	T	2: 84,597,637 (GRCm39)	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,613,932 (GRCm39)	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,011,296 (GRCm39)	E262G	probably benign	Het
Slc5a8	A	G	10: 88,738,353 (GRCm39)	I205M	probably damaging	Het
Sod2	G	T	17: 13,226,918 (GRCm39)		probably benign	Het
Tec	T	C	5: 72,943,362 (GRCm39)	I118V	probably benign	Het
Tenm3	A	T	8: 48,740,847 (GRCm39)	V1212E	probably damaging	Het
Tex44	G	A	1: 86,354,237 (GRCm39)	V49I	probably benign	Het
Tmem132d	A	T	5: 127,861,205 (GRCm39)	L972*	probably null	Het
Tpte	G	A	8: 22,815,563 (GRCm39)		probably null	Het
Trim6	T	A	7: 103,882,039 (GRCm39)	I456N	probably damaging	Het
Ubr4	G	C	4: 139,149,728 (GRCm39)	V520L	probably benign	Het
Ubxn8	A	T	8: 34,123,635 (GRCm39)	N101K	probably benign	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	Het
Vmn2r83	A	G	10: 79,327,392 (GRCm39)	T667A	probably damaging	Het
Zpld2	T	C	4: 133,927,384 (GRCm39)		probably null	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
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'- TCAGGTGTGAGAGCAATCCC -3'
(R):5'- CCTGAGCCTTACCAGGAAAGAC -3'

Sequencing Primer
(F):5'- TGTGAGAGCAATCCCCAGGG -3'
(R):5'- ACGTTTAAGTCTGACCTCTGAGCAG -3'

Posted On

2019-10-17