Mutagenetix > Incidental Mutation

Incidental Mutation 'R4021:Fam186a'

313263

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

040955-MU

Accession Numbers

Essential gene?

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

Stock #

R4021 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99816229-99864942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 99839680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 2188 (T2188S)

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: T2188S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: T2188S

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

Meta Mutation Damage Score

0.2030

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,685,148 (GRCm39)	L102P	probably benign	Het
Adcy4	C	T	14: 56,012,635 (GRCm39)		probably null	Het
Adgrf5	A	T	17: 43,741,605 (GRCm39)		probably benign	Het
Atp11a	A	G	8: 12,892,938 (GRCm39)	K643R	probably benign	Het
Cacna2d2	C	T	9: 107,391,257 (GRCm39)	T428M	probably damaging	Het
Cdh22	T	C	2: 164,985,593 (GRCm39)	D331G	possibly damaging	Het
Chmp3	T	C	6: 71,551,222 (GRCm39)		probably null	Het
Csnk2a1	C	T	2: 152,100,609 (GRCm39)	T127M	probably damaging	Het
Cyp2c55	T	A	19: 39,023,878 (GRCm39)		probably null	Het
Ddias	G	T	7: 92,510,686 (GRCm39)	D105E	possibly damaging	Het
Dnajb11	A	G	16: 22,688,196 (GRCm39)	D238G	probably damaging	Het
Dock7	T	C	4: 98,892,157 (GRCm39)		probably null	Het
Dock9	T	C	14: 121,864,324 (GRCm39)	K761E	possibly damaging	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Fam107b	G	A	2: 3,779,511 (GRCm39)	R238Q	probably damaging	Het
Farsa	A	G	8: 85,595,499 (GRCm39)	T465A	probably damaging	Het
Fibp	T	C	19: 5,510,762 (GRCm39)		probably null	Het
Flywch2	G	A	17: 23,996,013 (GRCm39)	T128I	possibly damaging	Het
Foxi2	A	T	7: 135,012,259 (GRCm39)	D49V	probably damaging	Het
Fstl5	A	G	3: 76,536,282 (GRCm39)	T31A	probably benign	Het
Gabbr2	G	A	4: 46,846,435 (GRCm39)	T158I	probably damaging	Het
Gbp4	T	A	5: 105,268,789 (GRCm39)	R455W	probably damaging	Het
Got2	T	G	8: 96,604,381 (GRCm39)	D69A	probably damaging	Het
Gpr63	T	C	4: 25,008,470 (GRCm39)	F398S	possibly damaging	Het
Gtf2h4	T	C	17: 35,981,556 (GRCm39)	M186V	probably benign	Het
Haus2	A	T	2: 120,446,411 (GRCm39)	Q111L	probably damaging	Het
Hexd	T	C	11: 121,108,987 (GRCm39)		probably null	Het
Igf2r	T	A	17: 12,967,638 (GRCm39)	N27I	probably damaging	Het
Itgax	T	A	7: 127,732,311 (GRCm39)		probably null	Het
Krit1	T	A	5: 3,882,132 (GRCm39)	I596K	probably benign	Het
Lair1	A	G	7: 4,058,915 (GRCm39)		probably null	Het
Lilra6	G	T	7: 3,914,417 (GRCm39)	T276K	probably benign	Het
Mast4	G	A	13: 102,875,829 (GRCm39)	R1112*	probably null	Het
Mrgprb1	A	T	7: 48,096,871 (GRCm39)	I347N	possibly damaging	Het
Mroh2b	T	A	15: 4,954,582 (GRCm39)	C682S	possibly damaging	Het
Mtif3	T	A	5: 146,892,488 (GRCm39)	R249S	possibly damaging	Het
Mycbp2	C	T	14: 103,389,593 (GRCm39)	E3406K	probably damaging	Het
Myo15b	A	G	11: 115,764,331 (GRCm39)	H1315R	probably benign	Het
Nlrp2	A	G	7: 5,328,011 (GRCm39)	F681L	probably benign	Het
Or2ag19	T	A	7: 106,444,226 (GRCm39)	M136K	probably damaging	Het
Or5l14	T	A	2: 87,793,066 (GRCm39)	T57S	possibly damaging	Het
Pear1	T	C	3: 87,663,529 (GRCm39)	N390D	possibly damaging	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Rnf17	C	T	14: 56,697,458 (GRCm39)	H451Y	probably damaging	Het
Sag	A	T	1: 87,749,027 (GRCm39)		probably null	Het
Septin4	A	G	11: 87,458,106 (GRCm39)	E160G	probably damaging	Het
Slc22a2	T	C	17: 12,803,376 (GRCm39)	L70P	probably damaging	Het
Slc32a1	C	T	2: 158,453,152 (GRCm39)		probably benign	Het
Spag17	A	T	3: 99,956,546 (GRCm39)	I881F	probably benign	Het
Taar7a	G	T	10: 23,869,284 (GRCm39)	N32K	probably benign	Het
Tbck	C	A	3: 132,432,895 (GRCm39)	T435K	probably damaging	Het
Tril	T	G	6: 53,796,004 (GRCm39)	D406A	probably damaging	Het
Tshz2	G	A	2: 169,727,782 (GRCm39)	D324N	probably damaging	Het
Vps13d	A	G	4: 144,801,631 (GRCm39)	V2349A	possibly damaging	Het
Wdr6	A	G	9: 108,452,405 (GRCm39)	W493R	probably damaging	Het
Wdr72	G	A	9: 74,058,875 (GRCm39)	V323I	probably benign	Het
Zfp488	T	A	14: 33,693,110 (GRCm39)	M18L	probably benign	Het
Zic4	A	G	9: 91,261,089 (GRCm39)	T108A	probably benign	Het
Znrf3	T	C	11: 5,231,278 (GRCm39)	D745G	possibly 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
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
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'- TCTGGGCTTCAAGTTGCTTC -3'
(R):5'- TACCTGGGAATCACTCTCACTG -3'

Sequencing Primer
(F):5'- CTTAGAAAGATGGCTCCTTAGTGC -3'
(R):5'- GGGAATCACTCTCACTGCTAGTCAAG -3'

Posted On

2015-04-30