Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Fam187a'

318928

Institutional Source

Beutler Lab

Gene Symbol

Fam187a

Ensembl Gene

ENSMUSG00000075510

Gene Name

family with sequence similarity 187, member A

Synonyms

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4206 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

102885169-102886731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102886212 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 281 (R281G)

Ref Sequence

ENSEMBL: ENSMUSP00000097938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021307] [ENSMUST00000067444] [ENSMUST00000077902] [ENSMUST00000100369] [ENSMUST00000159834]

AlphaFold

Q9D3R5

Predicted Effect

probably benign
Transcript: ENSMUST00000021307

SMART Domains

Protein: ENSMUSP00000021307
Gene: ENSMUSG00000020930

Domain	Start	End	E-Value	Type
Pfam:Dynein_attach_N	7	74	3.3e-32	PFAM
Pfam:RPAP3_C	98	188	1.2e-19	PFAM
low complexity region	219	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067444

SMART Domains

Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932

Domain	Start	End	E-Value	Type
Pfam:Filament_head	2	64	1.7e-8	PFAM
Filament	65	373	2.34e-136	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077902

SMART Domains

Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932

Domain	Start	End	E-Value	Type
Pfam:Filament_head	1	64	1.6e-7	PFAM
Pfam:Filament	65	373	1e-112	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100369
AA Change: R281G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510
AA Change: R281G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	39	142	3.73e0	SMART
IG_like	275	361	1.61e1	SMART
transmembrane domain	377	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159834

SMART Domains

Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930

Domain	Start	End	E-Value	Type
coiled coil region	8	33	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181125

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,473,515	K81R	probably benign	Het
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Ell2	A	G	13: 75,761,948	D139G	probably damaging	Het
Gin1	A	G	1: 97,792,420	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Ntsr1	A	G	2: 180,500,752	D112G	probably damaging	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Parg	A	G	14: 32,254,536	K178R	probably benign	Het
Pde8b	C	A	13: 95,222,545	C90F	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Rufy2	C	T	10: 63,004,772	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Tmem2	G	T	19: 21,842,115	R1090L	probably damaging	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably damaging	Het

Other mutations in Fam187a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02569:Fam187a	APN	11	102886159	missense	probably benign	0.04
IGL02886:Fam187a	APN	11	102886554	missense	probably benign	0.00
R1735:Fam187a	UTSW	11	102885780	missense	probably damaging	1.00
R1864:Fam187a	UTSW	11	102886011	missense	probably damaging	1.00
R2258:Fam187a	UTSW	11	102885298	unclassified	probably benign
R2259:Fam187a	UTSW	11	102885298	unclassified	probably benign
R2424:Fam187a	UTSW	11	102885954	missense	probably damaging	1.00
R3753:Fam187a	UTSW	11	102885849	missense	probably benign	0.00
R5176:Fam187a	UTSW	11	102886464	missense	probably damaging	0.99
R6011:Fam187a	UTSW	11	102885441	missense	probably damaging	1.00
R6520:Fam187a	UTSW	11	102885875	missense	possibly damaging	0.52
R6683:Fam187a	UTSW	11	102886189	missense	probably damaging	1.00
R7309:Fam187a	UTSW	11	102886006	missense	probably damaging	1.00
R7605:Fam187a	UTSW	11	102886048	missense	possibly damaging	0.58
R8352:Fam187a	UTSW	11	102886574	nonsense	probably null
R8452:Fam187a	UTSW	11	102886574	nonsense	probably null
R9043:Fam187a	UTSW	11	102885859	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACATTAAGACTCGGTCCGCC -3'
(R):5'- AATAGATGCCCCGGTCACTCAG -3'

Sequencing Primer
(F):5'- TGCCGTGGAAACTGCATCTC -3'
(R):5'- TCACTCAGCTGGGTGAAGC -3'

Posted On

2015-06-10