Mutagenetix > Incidental Mutation

Incidental Mutation 'R8239:Fam186a'

637528

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

067646-MU

Accession Numbers

Essential gene?

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

Stock #

R8239 (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 99839191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2351 (L2351P)

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: L2351P

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: L2351P

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,278,106 (GRCm39)	S166P	probably damaging	Het
Appl1	T	A	14: 26,686,914 (GRCm39)	T19S	probably damaging	Het
Arid4b	T	A	13: 14,344,594 (GRCm39)	D557E	probably benign	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
C2cd2l	T	C	9: 44,227,502 (GRCm39)	E307G	possibly damaging	Het
Cdh20	A	C	1: 110,027,832 (GRCm39)	T526P	probably benign	Het
Dchs1	C	T	7: 105,414,718 (GRCm39)	V775M	probably benign	Het
Dennd1b	A	G	1: 138,969,673 (GRCm39)	N63S	probably benign	Het
Dtnb	A	T	12: 3,694,056 (GRCm39)	Y248F	unknown	Het
Ehbp1l1	T	A	19: 5,770,089 (GRCm39)	T405S	possibly damaging	Het
Fam149a	A	G	8: 45,803,490 (GRCm39)	Y415H	possibly damaging	Het
Fsip2	T	G	2: 82,819,687 (GRCm39)	I5140S	possibly damaging	Het
Gm8674	T	C	13: 50,054,262 (GRCm39)	T749A	noncoding transcript	Het
Kalrn	A	G	16: 33,870,153 (GRCm39)	V1894A	noncoding transcript	Het
Kpna3	A	T	14: 61,624,919 (GRCm39)	N141K	probably damaging	Het
Lrba	G	A	3: 86,449,882 (GRCm39)	G2067D	probably damaging	Het
Lrp2	G	T	2: 69,311,611 (GRCm39)	Y2622*	probably null	Het
Lrtm2	A	C	6: 119,297,778 (GRCm39)	F88V	probably damaging	Het
Mboat1	T	C	13: 30,429,333 (GRCm39)	S454P	probably damaging	Het
Nkpd1	C	T	7: 19,253,753 (GRCm39)	P40S	probably benign	Het
Or2b7	T	C	13: 21,739,788 (GRCm39)	I135V	probably benign	Het
Or4a76	T	A	2: 89,460,907 (GRCm39)	I112F	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Or8k27	C	A	2: 86,275,473 (GRCm39)	M284I	noncoding transcript	Het
Patj	A	G	4: 98,570,308 (GRCm39)	E1711G	possibly damaging	Het
Pcdha4	A	T	18: 37,086,128 (GRCm39)	I104F	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plekhg4	C	T	8: 106,107,546 (GRCm39)	R990*	probably null	Het
Pphln1	T	C	15: 93,386,930 (GRCm39)	S343P	probably benign	Het
Pram1	A	T	17: 33,860,241 (GRCm39)	K269N	probably damaging	Het
Psmd13	T	A	7: 140,466,450 (GRCm39)	I79K	probably damaging	Het
Ptprf	T	C	4: 118,069,309 (GRCm39)	D1586G	possibly damaging	Het
Ptprh	T	A	7: 4,584,090 (GRCm39)	Q167H	probably damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rreb1	T	C	13: 38,077,848 (GRCm39)	M20T	probably damaging	Het
Scrn2	T	G	11: 96,923,046 (GRCm39)	L163R	probably damaging	Het
Slc36a3	C	T	11: 55,022,433 (GRCm39)	V254I	probably benign	Het
Slc6a6	T	C	6: 91,701,951 (GRCm39)	F120L	probably benign	Het
Slc8a2	A	T	7: 15,879,230 (GRCm39)	H572L	probably benign	Het
Spats2	T	A	15: 99,106,776 (GRCm39)	D357E	probably damaging	Het
Speg	A	T	1: 75,395,677 (GRCm39)	N1816I	probably damaging	Het
Sult2b1	A	G	7: 45,433,361 (GRCm39)	V2A	unknown	Het
Susd3	T	C	13: 49,384,731 (GRCm39)	T231A	probably benign	Het
Tamalin	C	T	15: 101,128,902 (GRCm39)	L217F	probably damaging	Het
Tcp1	A	G	17: 13,139,738 (GRCm39)	D261G	probably benign	Het
Trpm2	C	G	10: 77,771,836 (GRCm39)	S601T	probably benign	Het
Ugt2b38	A	T	5: 87,571,659 (GRCm39)	F124L	probably benign	Het
Unc80	G	T	1: 66,693,178 (GRCm39)	E2522D	probably benign	Het
Usp34	A	G	11: 23,396,750 (GRCm39)	T2365A		Het
Vmn2r92	G	T	17: 18,405,278 (GRCm39)	M807I	probably benign	Het
Vps13b	C	A	15: 35,597,550 (GRCm39)	P1030Q	probably damaging	Het
Wrn	T	G	8: 33,819,213 (GRCm39)	K246N	probably damaging	Het
Zer1	T	A	2: 29,991,147 (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
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
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'- CTCCAAGCCAGATTCTCAGTG -3'
(R):5'- CCCAACCATTCCAGGCATTTG -3'

Sequencing Primer
(F):5'- CAGATTCTCAGTGAGAGCGTC -3'
(R):5'- CCAGGCATTTGGAGCTCTAC -3'

Posted On

2020-07-13