Mutagenetix > Incidental Mutations

Incidental Mutation 'R3979:Fam208a'

311206

Institutional Source

Beutler Lab

Gene Symbol

Fam208a

Ensembl Gene

ENSMUSG00000040651

Gene Name

family with sequence similarity 208, member A

Synonyms

D14Abb1e, 4933409E02Rik

MMRRC Submission

040942-MU

Accession Numbers

Ensembl: ENSMUST00000059031; MGI: 1921694

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3979 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27428834-27483555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27477130 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 1335 (L1335S)

Ref Sequence

ENSEMBL: ENSMUSP00000022450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022450] [ENSMUST00000223689]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022450
AA Change: L1335S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: L1335S

Domain	Start	End	E-Value	Type
low complexity region	20	27	N/A	INTRINSIC
low complexity region	42	61	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
Pfam:DUF3715	153	314	1.5e-55	PFAM
low complexity region	442	457	N/A	INTRINSIC
low complexity region	1087	1102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223689

Predicted Effect

probably benign
Transcript: ENSMUST00000225139

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for ENU mutations are not viable past gastrulation. [provided by MGI curators]

Allele List at MGI

All alleles(26) : Gene trapped(26)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,323,976	V82A	probably benign	Het
Adam28	A	G	14: 68,610,994	V671A	probably benign	Het
Ak3	T	A	19: 29,047,718	S38C	probably damaging	Het
Arfgef1	A	G	1: 10,209,634	V236A	probably benign	Het
Arhgap10	T	C	8: 77,420,725	N170S	probably benign	Het
B020004C17Rik	G	T	14: 57,017,188	M156I	possibly damaging	Het
Bicral	T	A	17: 46,830,991	M1L	unknown	Het
Bop1	A	G	15: 76,453,876	L598P	probably damaging	Het
Cachd1	A	T	4: 100,970,888	D611V	probably damaging	Het
Cfap70	T	A	14: 20,439,719	E246D	probably benign	Het
Chl1	T	A	6: 103,715,284	Y294*	probably null	Het
Chrna2	T	A	14: 66,148,953	Y183N	probably damaging	Het
Dab2	A	G	15: 6,435,163		probably null	Het
Dnajb6	T	C	5: 29,751,008	F46L	possibly damaging	Het
Exoc7	T	C	11: 116,296,762	E275G	probably benign	Het
Frem2	A	G	3: 53,652,070	I1672T	probably benign	Het
Gm12166	T	A	11: 46,052,026	K90M	probably damaging	Het
Gprc6a	C	A	10: 51,621,101	V449L	probably benign	Het
H2-M10.4	A	G	17: 36,461,985	V35A	probably benign	Het
Hr	A	G	14: 70,563,584	T699A	probably benign	Het
Iffo1	A	G	6: 125,160,589		probably benign	Het
Iqgap1	G	A	7: 80,759,934	H218Y	probably damaging	Het
Itpr3	A	C	17: 27,085,131	K109Q	probably benign	Het
Itpr3	A	G	17: 27,091,572	D443G	probably damaging	Het
Katna1	T	C	10: 7,752,754	M249T	probably damaging	Het
Klk1b4	G	A	7: 44,211,593	G220D	probably damaging	Het
Krt24	A	G	11: 99,282,770	C242R	probably benign	Het
Madd	G	A	2: 91,176,828	T313I	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Micalcl	A	G	7: 112,407,678		probably null	Het
Neil3	T	C	8: 53,623,664	T79A	probably damaging	Het
Nras	A	G	3: 103,060,225	I46V	probably benign	Het
Olfr1196	T	C	2: 88,700,448	S294G	probably benign	Het
Olfr1369-ps1	T	A	13: 21,115,861	H56Q	probably benign	Het
Ppfia2	A	G	10: 106,830,629	T399A	possibly damaging	Het
Rarres1	A	G	3: 67,495,810	V86A	probably benign	Het
Rdh19	A	T	10: 127,850,075	R19W	possibly damaging	Het
Rock2	A	G	12: 16,972,736	K1059E	probably damaging	Het
Sparcl1	T	C	5: 104,092,781	H259R	probably benign	Het
Spata31d1c	A	G	13: 65,035,160	D172G	possibly damaging	Het
Stab2	T	C	10: 86,863,456	D515G	possibly damaging	Het
Sycp2l	A	G	13: 41,141,964	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,036,317	L262P	probably benign	Het
Tcaf2	A	G	6: 42,642,547	V182A	probably damaging	Het
Tcof1	C	T	18: 60,831,533	E674K	possibly damaging	Het
Trp63	A	G	16: 25,820,740		probably benign	Het
Ttn	A	T	2: 76,745,394	W25052R	probably damaging	Het
Ubr1	T	A	2: 120,862,687	N1746I	probably benign	Het
Vax2	T	C	6: 83,737,547	V148A	probably damaging	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r96	T	A	17: 18,597,679	I698N	probably damaging	Het
Wdr90	A	G	17: 25,859,278	V372A	probably benign	Het
Zfp335	C	T	2: 164,910,638	G62D	probably benign	Het
Zfp563	G	A	17: 33,105,727	R432H	probably benign	Het
Zhx1	T	C	15: 58,053,240	T537A	probably benign	Het

Other mutations in Fam208a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Fam208a	APN	14	27448206	missense	probably damaging	1.00
IGL00467:Fam208a	APN	14	27448164	missense	probably benign	0.02
IGL01071:Fam208a	APN	14	27442622	critical splice donor site	probably null
IGL01351:Fam208a	APN	14	27464301	missense	probably benign	0.02
IGL01375:Fam208a	APN	14	27440163	missense	probably damaging	1.00
IGL01509:Fam208a	APN	14	27459774	splice site	probably benign
IGL02342:Fam208a	APN	14	27476667	missense	possibly damaging	0.83
IGL03105:Fam208a	APN	14	27442552	missense	probably damaging	0.98
IGL03131:Fam208a	APN	14	27461179	nonsense	probably null
IGL03248:Fam208a	APN	14	27476692	missense	probably damaging	1.00
IGL03383:Fam208a	APN	14	27441961	missense	possibly damaging	0.93
balsam	UTSW	14	27461150	missense	probably benign	0.01
santa_rosa	UTSW	14	27476701	splice site	probably null
D4043:Fam208a	UTSW	14	27471992	missense	probably benign	0.07
R0147:Fam208a	UTSW	14	27471768	missense	probably benign	0.23
R0512:Fam208a	UTSW	14	27446406	missense	probably damaging	1.00
R0589:Fam208a	UTSW	14	27461150	missense	probably benign	0.01
R0609:Fam208a	UTSW	14	27461750	missense	probably benign	0.09
R0798:Fam208a	UTSW	14	27476636	missense	probably damaging	1.00
R1107:Fam208a	UTSW	14	27479723	nonsense	probably null
R1205:Fam208a	UTSW	14	27461318	missense	probably damaging	1.00
R1376:Fam208a	UTSW	14	27429381	missense	probably benign	0.00
R1376:Fam208a	UTSW	14	27429381	missense	probably benign	0.00
R1441:Fam208a	UTSW	14	27464260	nonsense	probably null
R1493:Fam208a	UTSW	14	27449969	missense	probably damaging	1.00
R1527:Fam208a	UTSW	14	27480093	critical splice donor site	probably null
R1729:Fam208a	UTSW	14	27479633	missense	probably damaging	1.00
R1752:Fam208a	UTSW	14	27471928	nonsense	probably null
R1960:Fam208a	UTSW	14	27438664	missense	probably damaging	1.00
R1960:Fam208a	UTSW	14	27479789	missense	possibly damaging	0.95
R1965:Fam208a	UTSW	14	27442554	missense	probably damaging	1.00
R2074:Fam208a	UTSW	14	27461213	missense	probably benign	0.03
R2107:Fam208a	UTSW	14	27461787	critical splice donor site	probably null
R2130:Fam208a	UTSW	14	27446388	missense	probably damaging	1.00
R2130:Fam208a	UTSW	14	27476614	missense	possibly damaging	0.74
R2131:Fam208a	UTSW	14	27476614	missense	possibly damaging	0.74
R2133:Fam208a	UTSW	14	27476614	missense	possibly damaging	0.74
R2140:Fam208a	UTSW	14	27480035	missense	probably damaging	1.00
R2184:Fam208a	UTSW	14	27466184	missense	possibly damaging	0.83
R2279:Fam208a	UTSW	14	27442495	missense	probably damaging	1.00
R4113:Fam208a	UTSW	14	27459961	nonsense	probably null
R4434:Fam208a	UTSW	14	27449861	critical splice donor site	probably null
R4562:Fam208a	UTSW	14	27466308	missense	possibly damaging	0.67
R4568:Fam208a	UTSW	14	27476701	splice site	probably null
R4754:Fam208a	UTSW	14	27461095	missense	probably benign
R4980:Fam208a	UTSW	14	27461425	missense	probably benign	0.39
R4993:Fam208a	UTSW	14	27429114	missense	possibly damaging	0.88
R5200:Fam208a	UTSW	14	27429226	missense	probably benign	0.41
R5316:Fam208a	UTSW	14	27472035	missense	possibly damaging	0.52
R5599:Fam208a	UTSW	14	27479929	missense	probably benign	0.01
R5678:Fam208a	UTSW	14	27429123	small insertion	probably benign
R5680:Fam208a	UTSW	14	27429123	small insertion	probably benign
R5887:Fam208a	UTSW	14	27466297	nonsense	probably null
R6181:Fam208a	UTSW	14	27472278	missense	probably benign	0.01
R6556:Fam208a	UTSW	14	27429258	missense	probably benign
R6603:Fam208a	UTSW	14	27446386	missense	probably damaging	1.00
R6829:Fam208a	UTSW	14	27442481	missense	possibly damaging	0.90
R6864:Fam208a	UTSW	14	27461158	missense	probably damaging	0.96
R6919:Fam208a	UTSW	14	27449801	nonsense	probably null
R7046:Fam208a	UTSW	14	27472435	missense	probably damaging	1.00
R7057:Fam208a	UTSW	14	27461651	missense	probably damaging	0.97
R7064:Fam208a	UTSW	14	27472331	missense	probably benign	0.09
R7290:Fam208a	UTSW	14	27438653	missense	probably damaging	1.00
R7303:Fam208a	UTSW	14	27471852	missense	probably damaging	1.00
R7439:Fam208a	UTSW	14	27471645	missense	probably damaging	1.00
R7524:Fam208a	UTSW	14	27466203	missense	probably damaging	0.99
R7580:Fam208a	UTSW	14	27466286	missense	probably benign	0.29
R7726:Fam208a	UTSW	14	27447497	missense	probably damaging	0.99
R7771:Fam208a	UTSW	14	27467559	missense	probably damaging	1.00
R7782:Fam208a	UTSW	14	27471944	missense	probably benign	0.07
R7795:Fam208a	UTSW	14	27481383	missense
X0002:Fam208a	UTSW	14	27472106	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CACTTGGCTTCCTCTGGTAG -3'
(R):5'- GAGGACTTCACCAAATTGTTTGTC -3'

Sequencing Primer
(F):5'- CTTCCTCTGGTAGTGGTATTGATAC -3'
(R):5'- TTGTCAACAAGAATACCACTTCTTCC -3'

Posted On

2015-04-29