Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02342:Fam208a'

289145

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam208a

Ensembl Gene

ENSMUSG00000040651

Gene Name

family with sequence similarity 208, member A

Synonyms

D14Abb1e, 4933409E02Rik

Accession Numbers

Ensembl: ENSMUST00000059031; MGI: 1921694

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02342

Quality Score

Status

Chromosome

Chromosomal Location

27428834-27483555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27476667 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1319 (S1319T)

Ref Sequence

ENSEMBL: ENSMUSP00000022450 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022450
AA Change: S1319T

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: S1319T

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	C	A	10: 43,175,001	P97Q	probably damaging	Het
Abcb10	A	T	8: 123,962,034	V501E	probably damaging	Het
Acsf3	T	C	8: 122,817,498	Y572H	probably benign	Het
Adamts3	A	T	5: 89,691,473		probably null	Het
Alox8	A	G	11: 69,186,227	L480P	probably damaging	Het
Arhgap35	G	A	7: 16,562,380	T920I	probably benign	Het
Brca2	C	A	5: 150,542,824	L2018M	possibly damaging	Het
Brdt	C	A	5: 107,342,203	H45N	probably damaging	Het
C1s2	A	G	6: 124,632,116	F155L	probably damaging	Het
Ccser2	A	G	14: 36,918,605		probably benign	Het
Cd8a	T	A	6: 71,373,739	C63S	probably damaging	Het
Clk2	A	T	3: 89,175,691	T424S	probably benign	Het
Cntn1	A	G	15: 92,246,017	E287G	probably benign	Het
Cobl	A	C	11: 12,253,672	V928G	possibly damaging	Het
Col12a1	A	G	9: 79,649,896		probably null	Het
Crnkl1	A	T	2: 145,924,713		probably null	Het
Defb26	T	C	2: 152,508,201	N53S	possibly damaging	Het
Duox1	A	T	2: 122,347,312	T1526S	probably damaging	Het
Dync2h1	A	G	9: 7,142,246	L1233P	probably damaging	Het
Eif5a2	A	G	3: 28,793,761	E116G	possibly damaging	Het
Fam71f1	A	G	6: 29,323,830	T185A	possibly damaging	Het
Gdap2	G	A	3: 100,178,316	A185T	probably damaging	Het
Grm8	T	C	6: 27,363,804	R571G	probably benign	Het
Hfe2	G	A	3: 96,528,172	D249N	possibly damaging	Het
Hsp90b1	T	C	10: 86,695,739		probably null	Het
Ighv1-75	T	G	12: 115,834,258		probably benign	Het
Ikzf1	A	G	11: 11,700,216		probably benign	Het
Kdm4d	A	G	9: 14,463,564	W333R	probably damaging	Het
Lama3	A	T	18: 12,491,476	N1426I	probably damaging	Het
Lmbrd1	A	G	1: 24,704,878	Y119C	probably damaging	Het
Mctp1	A	G	13: 77,024,857	Y884C	probably damaging	Het
Naip6	G	T	13: 100,303,240	P340T	possibly damaging	Het
Nfkbib	G	T	7: 28,762,103	H70N	probably damaging	Het
Nol4	A	T	18: 22,770,869		probably benign	Het
Obscn	C	T	11: 59,001,088	A6873T	probably benign	Het
Olfr66	T	A	7: 103,881,380	I288F	probably benign	Het
Olfr705	A	G	7: 106,714,025	S219P	probably benign	Het
Olfr986	T	A	9: 40,187,527	N137K	probably benign	Het
Paqr6	A	G	3: 88,366,184	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,756,044	D274V	probably damaging	Het
Phip	A	G	9: 82,886,692	Y1196H	probably damaging	Het
Prc1	T	C	7: 80,309,442	L345S	probably damaging	Het
Smpdl3a	A	G	10: 57,809,180		probably benign	Het
Ssfa2	A	G	2: 79,660,285	N943S	probably benign	Het
Tac1	G	T	6: 7,559,119		probably null	Het
Tg	A	G	15: 66,764,291	T576A	probably benign	Het
Thbs2	A	T	17: 14,676,316	D770E	probably damaging	Het
Tmem117	T	C	15: 95,011,450	V248A	possibly damaging	Het
Trpm8	T	C	1: 88,328,250	I209T	possibly damaging	Het
Ttc30a1	G	T	2: 75,980,632	T369K	probably benign	Het
Wrap53	A	G	11: 69,563,591	F244L	probably damaging	Het
Wrap73	A	T	4: 154,148,780	Q137L	probably benign	Het
Zfhx4	A	T	3: 5,402,374	T2531S	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
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
R3979:Fam208a	UTSW	14	27477130	missense	possibly damaging	0.95
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

Posted On

2015-04-16