Mutagenetix > Incidental Mutation

Incidental Mutation 'R6044:Fam186a'

483732

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

044212-MU

Accession Numbers

Essential gene?

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

Stock #

R6044 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99816229-99864942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99839878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 2122 (Y2122C)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000100209
AA Change: Y2122C

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: Y2122C

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Adamts20	A	T	15: 94,180,364 (GRCm39)	Y1764N	probably damaging	Het
Adamtsl1	A	T	4: 86,130,928 (GRCm39)	D223V	probably damaging	Het
Agbl1	T	C	7: 75,967,868 (GRCm39)	V31A	possibly damaging	Het
Alk	T	C	17: 72,299,095 (GRCm39)	H462R	probably benign	Het
Amt	A	T	9: 108,174,450 (GRCm39)	T72S	probably damaging	Het
Atp12a	T	A	14: 56,613,612 (GRCm39)	D461E	probably damaging	Het
Bcan	C	A	3: 87,902,950 (GRCm39)	C276F	probably damaging	Het
Crispld2	T	C	8: 120,737,410 (GRCm39)	S54P	possibly damaging	Het
Cyp11a1	A	T	9: 57,933,987 (GRCm39)	N478I	probably damaging	Het
Des	A	T	1: 75,340,113 (GRCm39)		probably null	Het
Dnajc6	A	T	4: 101,473,774 (GRCm39)	I427F	probably benign	Het
Eml4	T	G	17: 83,753,379 (GRCm39)	L281R	probably damaging	Het
Fndc11	T	A	2: 180,863,459 (GRCm39)	L88Q	probably damaging	Het
Foxo1	A	G	3: 52,253,258 (GRCm39)	M474V	probably benign	Het
Gap43	A	T	16: 42,112,550 (GRCm39)	D70E	probably benign	Het
Gemin4	T	C	11: 76,103,760 (GRCm39)	M334V	probably benign	Het
Gm973	T	C	1: 59,667,393 (GRCm39)	L718P	probably benign	Het
Gprin3	G	T	6: 59,330,657 (GRCm39)	T550N	possibly damaging	Het
Hddc3	T	A	7: 79,993,332 (GRCm39)	V53E	probably benign	Het
Itpr2	A	T	6: 146,298,449 (GRCm39)	D12E	probably null	Het
Klri2	T	A	6: 129,717,247 (GRCm39)	E45D	probably damaging	Het
Lct	A	G	1: 128,235,717 (GRCm39)	V430A	possibly damaging	Het
Mcm8	T	C	2: 132,673,600 (GRCm39)		probably null	Het
Mmp12	A	G	9: 7,350,050 (GRCm39)	T184A	possibly damaging	Het
Morc3	T	C	16: 93,663,330 (GRCm39)	V511A	probably benign	Het
Mta2	T	C	19: 8,925,695 (GRCm39)	Y397H	probably damaging	Het
Naa50	G	A	16: 43,979,890 (GRCm39)	E93K	possibly damaging	Het
Or14j2	G	A	17: 37,885,426 (GRCm39)	T296M	probably damaging	Het
Or2t26	T	C	11: 49,039,522 (GRCm39)	V146A	probably benign	Het
Or4a77	T	A	2: 89,487,516 (GRCm39)	I90F	probably damaging	Het
Or4c126	T	C	2: 89,823,761 (GRCm39)	I8T	possibly damaging	Het
Or4k40	T	C	2: 111,250,423 (GRCm39)	N291S	probably damaging	Het
Padi4	A	G	4: 140,475,438 (GRCm39)	S576P	possibly damaging	Het
Poglut2	A	T	1: 44,153,611 (GRCm39)	L221*	probably null	Het
Prss47	A	T	13: 65,197,120 (GRCm39)	Y111*	probably null	Het
Ptprm	A	G	17: 67,000,857 (GRCm39)	V1100A	probably damaging	Het
Rab11fip3	G	A	17: 26,286,843 (GRCm39)	P437S	possibly damaging	Het
Rsph14	C	T	10: 74,867,102 (GRCm39)	D15N	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco1a1	A	G	6: 141,885,743 (GRCm39)	V94A	probably benign	Het
Smpdl3a	A	G	10: 57,687,358 (GRCm39)	E362G	possibly damaging	Het
Sva	A	T	6: 42,017,034 (GRCm39)	Y47F	probably benign	Het
Tatdn3	A	G	1: 190,788,558 (GRCm39)		probably null	Het
Tlcd4	A	T	3: 121,001,018 (GRCm39)	I205K	probably damaging	Het
Tlcd5	A	G	9: 43,024,903 (GRCm39)	S18P	probably benign	Het
Tmem131	G	A	1: 36,920,422 (GRCm39)	Q93*	probably null	Het
Trpm7	T	C	2: 126,656,665 (GRCm39)	E1184G	probably damaging	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Usp40	A	T	1: 87,917,872 (GRCm39)	I325K	probably benign	Het
Vmn2r27	T	G	6: 124,208,731 (GRCm39)	I5L	probably benign	Het
Wee1	C	T	7: 109,738,513 (GRCm39)	T542I	probably benign	Het
Wrn	G	A	8: 33,726,457 (GRCm39)	P1129S	probably damaging	Het
Zfyve16	G	A	13: 92,659,174 (GRCm39)	Q246*	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
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'- TCAGGTGTGAGAGCAATCCC -3'
(R):5'- ACCCTTAAGCAGGCTGAAG -3'

Sequencing Primer
(F):5'- TGTGAGAGCAATCCCCAGAGC -3'
(R):5'- CCTTAAGCAGGCTGAAGCTGTG -3'

Posted On

2017-07-14