Mutagenetix > Incidental Mutation

Incidental Mutation 'R5965:Fam186a'

472052

Institutional Source

Beutler Lab

Gene Symbol

Fam186a

Ensembl Gene

ENSMUSG00000045350

Gene Name

family with sequence similarity 186, member A

Synonyms

LOC380973, 1700030F18Rik

MMRRC Submission

044150-MU

Accession Numbers

Essential gene?

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

Stock #

R5965 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99816229-99864942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99842978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1089 (T1089S)

Ref Sequence

ENSEMBL: ENSMUSP00000097783 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100209
AA Change: T1089S

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097783
Gene: ENSMUSG00000045350
AA Change: T1089S

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: ENSMUST00000177831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180309

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,410,637 (GRCm39)	T23S	probably benign	Het
Armc2	A	G	10: 41,798,568 (GRCm39)	I747T	possibly damaging	Het
Cacna1c	T	A	6: 118,579,261 (GRCm39)	H1729L	probably damaging	Het
Crebbp	A	G	16: 3,905,525 (GRCm39)		probably benign	Het
Cyp4f17	T	A	17: 32,743,611 (GRCm39)	M326K	probably damaging	Het
Dchs1	T	G	7: 105,405,132 (GRCm39)	D2470A	probably damaging	Het
Ddhd2	T	C	8: 26,225,804 (GRCm39)	T518A	probably damaging	Het
Derl2	T	C	11: 70,905,378 (GRCm39)	T109A	probably benign	Het
Dnah7b	T	C	1: 46,402,147 (GRCm39)	L3994P	probably damaging	Het
Dock10	T	C	1: 80,546,461 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,599,212 (GRCm39)	S1856T	probably benign	Het
Ehd2	T	C	7: 15,685,999 (GRCm39)	K358E	possibly damaging	Het
Enpp2	A	G	15: 54,746,367 (GRCm39)		probably null	Het
Esco1	T	C	18: 10,593,867 (GRCm39)	E473G	possibly damaging	Het
Exoc5	A	G	14: 49,272,388 (GRCm39)	F342S	probably damaging	Het
Fanca	T	C	8: 124,043,149 (GRCm39)	D79G	possibly damaging	Het
Gabrb2	A	G	11: 42,517,696 (GRCm39)	Y506C	probably damaging	Het
Galntl6	T	C	8: 58,310,565 (GRCm39)	T379A	probably benign	Het
Garin2	T	A	12: 78,757,080 (GRCm39)	N12K	unknown	Het
Gm34768	A	G	2: 11,913,316 (GRCm39)		noncoding transcript	Het
Gps2	A	G	11: 69,805,620 (GRCm39)	E46G	possibly damaging	Het
Gsdmc	T	C	15: 63,676,447 (GRCm39)		probably null	Het
Gys1	C	T	7: 45,104,763 (GRCm39)	T666I	probably benign	Het
Hsd17b11	T	A	5: 104,169,651 (GRCm39)		probably benign	Het
Iffo1	T	A	6: 125,129,471 (GRCm39)		probably benign	Het
Ighv1-51	T	C	12: 115,095,177 (GRCm39)		noncoding transcript	Het
Kansl3	T	A	1: 36,384,601 (GRCm39)		probably null	Het
Kdm3a	A	G	6: 71,598,364 (GRCm39)	I174T	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Lair1	T	C	7: 4,032,023 (GRCm39)	D28G	possibly damaging	Het
Lama3	A	G	18: 12,562,944 (GRCm39)	D489G	possibly damaging	Het
Lamb3	A	T	1: 193,025,768 (GRCm39)	I1153F	probably damaging	Het
Lsp1	T	A	7: 142,044,161 (GRCm39)		probably null	Het
Man1a	A	G	10: 53,809,586 (GRCm39)		probably benign	Het
Mcam	A	C	9: 44,047,925 (GRCm39)	S57R	probably damaging	Het
Mrgprf	C	A	7: 144,861,168 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,999,529 (GRCm39)	*499Q	probably null	Het
Nmbr	C	A	10: 14,642,554 (GRCm39)	R38S	probably benign	Het
Or12e7	T	G	2: 87,288,381 (GRCm39)	F291V	probably benign	Het
Or51a25	C	A	7: 102,373,467 (GRCm39)	V77L	probably benign	Het
Or5h23	T	C	16: 58,906,666 (GRCm39)	Y60C	probably damaging	Het
P3h1	C	T	4: 119,105,424 (GRCm39)	H741Y	probably benign	Het
Parp4	A	T	14: 56,861,489 (GRCm39)	M941L	probably benign	Het
Phaf1	T	C	8: 105,961,171 (GRCm39)	F69L	probably damaging	Het
Pik3c3	C	T	18: 30,431,633 (GRCm39)	T331M	probably damaging	Het
Prkg1	T	C	19: 30,701,556 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,112,233 (GRCm39)	V103D	probably benign	Het
Ranbp1	T	C	16: 18,063,092 (GRCm39)	T95A	probably damaging	Het
Ric1	G	A	19: 29,548,171 (GRCm39)	D280N	probably damaging	Het
Scd1	A	G	19: 44,388,579 (GRCm39)		probably null	Het
Serpinb3c	A	G	1: 107,204,653 (GRCm39)	I31T	probably benign	Het
Slc7a11	T	A	3: 50,333,593 (GRCm39)	Y386F	probably benign	Het
Smtnl2	A	T	11: 72,291,279 (GRCm39)		probably null	Het
Snx2	G	T	18: 53,327,534 (GRCm39)	E87*	probably null	Het
Tars2	A	C	3: 95,655,464 (GRCm39)		probably null	Het
Tax1bp1	C	A	6: 52,706,317 (GRCm39)	T106N	probably damaging	Het
Tcof1	A	G	18: 60,966,490 (GRCm39)		probably null	Het
Tenm3	C	A	8: 48,681,543 (GRCm39)	E2680*	probably null	Het
Thap7	C	T	16: 17,348,611 (GRCm39)		probably benign	Het
Thoc6	T	A	17: 23,889,842 (GRCm39)	I23F	possibly damaging	Het
Tmem185b	T	G	1: 119,454,294 (GRCm39)	Y18*	probably null	Het
Trav6-1	A	C	14: 52,876,254 (GRCm39)	Y58S	probably damaging	Het
Trbv16	A	T	6: 41,128,989 (GRCm39)	I58F	probably benign	Het
Ubtfl1	T	A	9: 18,320,838 (GRCm39)	M122K	probably benign	Het
Vps13a	T	C	19: 16,596,392 (GRCm39)		probably null	Het
Zdhhc24	T	G	19: 4,933,778 (GRCm39)	D278E	probably benign	Het
Zfp316	T	C	5: 143,250,427 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,548,878 (GRCm39)	T769A	possibly damaging	Het
Znhit6	T	A	3: 145,284,103 (GRCm39)	N96K	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
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
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'- TCAGGGCTCAGATTGATTCTCTG -3'
(R):5'- TCACTCTCAACCTTCAGCAG -3'

Sequencing Primer
(F):5'- AGATTGATTCTCTGAGTCTTGACC -3'
(R):5'- TCTCACTCCTGAGCAAGTCAAGG -3'

Posted On

2017-03-31