Mutagenetix > Incidental Mutation

Incidental Mutation 'R9018:Fam186b'

686169

Institutional Source

Beutler Lab

Gene Symbol

Fam186b

Ensembl Gene

ENSMUSG00000078907

Gene Name

family with sequence similarity 186, member B

Synonyms

EG545136

MMRRC Submission

068848-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99271018-99295888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99279735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 570 (A570V)

Ref Sequence

ENSEMBL: ENSMUSP00000104728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109100] [ENSMUST00000230608]

AlphaFold

D3Z420

Predicted Effect

probably damaging
Transcript: ENSMUST00000109100
AA Change: A570V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: A570V

Domain	Start	End	E-Value	Type
Blast:FBG	12	193	1e-19	BLAST
low complexity region	354	363	N/A	INTRINSIC
low complexity region	478	493	N/A	INTRINSIC
low complexity region	508	522	N/A	INTRINSIC
low complexity region	789	810	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230608

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,289,540	K1236N	probably benign	Het
Abca14	A	G	7: 120,319,309	E1552G	probably damaging	Het
Adam3	A	T	8: 24,694,276	Y569*	probably null	Het
Adgrb2	A	G	4: 130,013,866	T998A	probably benign	Het
Adgre4	T	A	17: 55,791,993	H166Q	probably benign	Het
Ank1	G	A	8: 23,116,248	G1219S	probably null	Het
Ankrd11	A	G	8: 122,895,512	S534P	probably damaging	Het
Atn1	C	T	6: 124,745,698	E805K	unknown	Het
Bsn	T	C	9: 108,117,289	T596A	probably benign	Het
Cacnb4	C	T	2: 52,434,694	R452Q	probably benign	Het
Cdc123	C	A	2: 5,844,872	A13S	probably benign	Het
Chd7	G	A	4: 8,847,083	G1609S	possibly damaging	Het
Cp	T	A	3: 19,989,152	C1035S	probably damaging	Het
Dcaf1	T	A	9: 106,865,637	C1383S	probably damaging	Het
Derl3	G	A	10: 75,893,770	V54I	probably benign	Het
Dgcr6	T	C	16: 18,066,743	L25P	probably damaging	Het
Dmrt2	A	G	19: 25,673,621	E57G	probably benign	Het
Dst	A	G	1: 34,196,059	K3562E	probably damaging	Het
Dyrk2	T	C	10: 118,860,109	T415A	probably damaging	Het
Fbln1	T	C	15: 85,242,014	I484T	probably damaging	Het
Greb1l	T	A	18: 10,542,004	D1250E	possibly damaging	Het
Ift88	A	C	14: 57,438,245	K72Q	probably benign	Het
Impg1	T	A	9: 80,394,192	I228F	probably benign	Het
Itsn2	A	G	12: 4,658,091	N799S	possibly damaging	Het
Jade1	T	A	3: 41,609,857	C521S	probably benign	Het
Katna1	T	G	10: 7,761,276	L397R	probably damaging	Het
Kcnj15	A	C	16: 95,296,270	K250N	probably damaging	Het
Lrrc6	A	T	15: 66,449,630	S221T	probably benign	Het
Macc1	A	G	12: 119,446,206	I236M	possibly damaging	Het
Mapk13	C	T	17: 28,777,786	R276C	probably benign	Het
Mier2	G	A	10: 79,548,440	R166W	probably damaging	Het
Mindy4	C	T	6: 55,301,087	H639Y	possibly damaging	Het
Mphosph9	A	G	5: 124,298,650	S544P	probably benign	Het
Muc4	T	C	16: 32,762,536	Y492H		Het
Mybbp1a	C	T	11: 72,443,594	T225I	probably benign	Het
Myo6	A	T	9: 80,251,804	K285I	unknown	Het
Nmd3	G	A	3: 69,739,995	V277I	probably benign	Het
Nol9	G	C	4: 152,039,461	R36P	probably damaging	Het
Nom1	A	G	5: 29,434,714	R13G	possibly damaging	Het
Nudt14	G	A	12: 112,939,286	H40Y	probably damaging	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr1375	G	A	11: 51,048,111	M1I	probably null	Het
Olfr1474	A	T	19: 13,471,357	H87L	possibly damaging	Het
Olfr933	T	A	9: 38,976,391	F238L	probably benign	Het
Pcnx4	T	A	12: 72,556,663	F492I	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Pgghg	A	G	7: 140,944,666	I309V	probably benign	Het
Phf12	C	T	11: 78,023,684	P651S	possibly damaging	Het
Pltp	A	G	2: 164,852,490	L199P	probably damaging	Het
Pole	T	A	5: 110,289,809	L78I	probably benign	Het
Ppm1d	C	A	11: 85,337,135	H292Q	probably damaging	Het
Ppp2cb	A	C	8: 33,615,759	I224L	probably benign	Het
Rabggta	A	T	14: 55,720,423	I171N	probably damaging	Het
Rapgef5	A	G	12: 117,748,397	I740V	probably damaging	Het
Rb1cc1	G	A	1: 6,249,266	E970K	probably benign	Het
Rnh1	A	T	7: 141,168,631	V11D	probably benign	Het
Robo4	C	T	9: 37,404,224	T288I	probably benign	Het
Scmh1	A	G	4: 120,505,317	D250G	probably benign	Het
Sele	T	A	1: 164,053,679	C483S	probably damaging	Het
Slc12a6	A	G	2: 112,344,240		probably benign	Het
Slc5a4a	A	G	10: 76,166,712	E234G	possibly damaging	Het
Smarca5	A	G	8: 80,704,726	L954P	probably damaging	Het
St7	T	A	6: 17,906,495	N413K	probably damaging	Het
Stam2	C	T	2: 52,716,451	V141I	probably benign	Het
Stim1	C	T	7: 102,411,275	T175I	probably benign	Het
Strap	A	G	6: 137,739,813	N130S	probably benign	Het
Stxbp2	A	G	8: 3,642,627		probably benign	Het
Sult3a2	T	A	10: 33,779,693	I97F	probably benign	Het
Tbc1d32	A	T	10: 56,072,597	N965K	probably benign	Het
Tle3	T	A	9: 61,412,468	I506N	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tvp23a	A	G	16: 10,446,982	S22P	probably damaging	Het
Vmn2r82	A	G	10: 79,396,705	N846S	probably damaging	Het
Vmn2r83	A	G	10: 79,480,186	N472S	probably damaging	Het
Xpo7	G	A	14: 70,707,424	Q10*	probably null	Het
Zfp423	G	C	8: 87,781,753	S654R	probably benign	Het
Zfp646	A	T	7: 127,879,071	H140L	probably benign	Het
Zfp719	C	A	7: 43,584,065		probably benign	Het

Other mutations in Fam186b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Fam186b	APN	15	99280318	missense	probably benign	0.00
IGL01729:Fam186b	APN	15	99280251	missense	probably benign	0.02
IGL01948:Fam186b	APN	15	99280446	missense	probably benign	0.00
IGL02133:Fam186b	APN	15	99273703	missense	probably damaging	0.96
IGL03010:Fam186b	APN	15	99280627	missense	possibly damaging	0.80
IGL03371:Fam186b	APN	15	99280377	missense	probably benign	0.00
R0457:Fam186b	UTSW	15	99271285	missense	probably benign	0.02
R0522:Fam186b	UTSW	15	99280519	missense	probably benign	0.00
R0571:Fam186b	UTSW	15	99286953	missense	probably benign	0.02
R0620:Fam186b	UTSW	15	99280128	missense	probably benign	0.34
R1575:Fam186b	UTSW	15	99286971	missense	probably benign	0.00
R1883:Fam186b	UTSW	15	99278798	missense	probably damaging	0.96
R2144:Fam186b	UTSW	15	99280657	missense	probably benign	0.00
R2267:Fam186b	UTSW	15	99285643	missense	probably damaging	0.99
R2332:Fam186b	UTSW	15	99280428	missense	probably benign	0.42
R2394:Fam186b	UTSW	15	99280177	missense	probably benign	0.01
R3624:Fam186b	UTSW	15	99280515	missense	probably benign	0.01
R4681:Fam186b	UTSW	15	99280890	missense	probably benign	0.00
R4811:Fam186b	UTSW	15	99280237	missense	probably benign	0.01
R4906:Fam186b	UTSW	15	99271321	missense	probably damaging	0.99
R5028:Fam186b	UTSW	15	99280801	missense	probably damaging	0.99
R5047:Fam186b	UTSW	15	99280686	missense	probably damaging	1.00
R5295:Fam186b	UTSW	15	99283874	missense	probably damaging	1.00
R5440:Fam186b	UTSW	15	99273853	missense	possibly damaging	0.75
R5468:Fam186b	UTSW	15	99278870	missense	possibly damaging	0.93
R5596:Fam186b	UTSW	15	99271289	missense	possibly damaging	0.90
R5759:Fam186b	UTSW	15	99279717	missense	probably benign	0.09
R6239:Fam186b	UTSW	15	99280434	missense	probably benign
R7117:Fam186b	UTSW	15	99285590	missense	probably damaging	0.98
R7141:Fam186b	UTSW	15	99283892	missense	probably benign	0.03
R7223:Fam186b	UTSW	15	99279837	missense	possibly damaging	0.77
R7301:Fam186b	UTSW	15	99278748	missense	probably benign	0.00
R7441:Fam186b	UTSW	15	99280089	missense	probably benign	0.00
R7614:Fam186b	UTSW	15	99286986	missense	probably damaging	1.00
R7825:Fam186b	UTSW	15	99283847	missense	not run
R7853:Fam186b	UTSW	15	99280747	missense	probably damaging	1.00
R8340:Fam186b	UTSW	15	99279714	missense	probably benign	0.02
R8523:Fam186b	UTSW	15	99279732	missense	probably benign	0.00
R8821:Fam186b	UTSW	15	99280852	missense	possibly damaging	0.69
R8939:Fam186b	UTSW	15	99279342	missense	probably benign	0.00
R9016:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9305:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9341:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9343:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9343:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9345:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9346:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9450:Fam186b	UTSW	15	99285544	missense	probably damaging	0.97
R9464:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9517:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9521:Fam186b	UTSW	15	99280538	missense	probably benign	0.00
R9563:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9565:Fam186b	UTSW	15	99278804	missense	probably damaging	1.00
R9565:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9568:Fam186b	UTSW	15	99278690	missense	probably damaging	1.00
R9652:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9653:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9727:Fam186b	UTSW	15	99273788	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAGACCTTGTCCTTAGGTGTCCC -3'
(R):5'- CTTCAGCGGCAGAAGAAGTG -3'

Sequencing Primer
(F):5'- TTGCTGCAGAGAGACCTGG -3'
(R):5'- AAGAAGTGGGCCCTGCTG -3'

Posted On

2021-10-11