Mutagenetix > Incidental Mutations

Incidental Mutation 'R4113:Fam208a'

314518

Institutional Source

Beutler Lab

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 #

R4113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27428834-27483555 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 27459961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 483 (R483*)

Ref Sequence

ENSEMBL: ENSMUSP00000022450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000022450
AA Change: R483*

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: R483*

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

noncoding transcript
Transcript: ENSMUST00000223688

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.6%
20x: 96.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bace2	A	G	16: 97,436,656	T436A	probably benign	Het
BC024139	A	G	15: 76,121,627	M458T	probably benign	Het
Casp2	G	A	6: 42,267,894	A76T	probably damaging	Het
Catsper3	A	G	13: 55,786,370	K35E	probably damaging	Het
Ccdc88c	A	G	12: 100,945,073	L34P	probably damaging	Het
Dcaf13	T	A	15: 39,130,220	I236N	probably damaging	Het
Dip2c	G	T	13: 9,637,101	G1254C	probably damaging	Het
Dnah12	T	C	14: 26,693,567	L41P	probably damaging	Het
Dnah17	T	C	11: 118,112,594	K514R	possibly damaging	Het
Dnajb12	T	A	10: 59,894,314	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Eya4	G	T	10: 23,155,951	S235Y	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gdf3	A	G	6: 122,607,057	I117T	probably damaging	Het
Gm5611	T	A	9: 17,030,693		noncoding transcript	Het
Gtf3c4	G	A	2: 28,827,555	T771I	probably damaging	Het
Hrh3	C	A	2: 180,102,850	R99L	possibly damaging	Het
Hyls1	T	A	9: 35,561,418	Y234F	probably damaging	Het
Irak1bp1	T	C	9: 82,846,675	S220P	probably benign	Het
Lama1	G	A	17: 67,764,703	V862I	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Olfr1271	A	T	2: 90,266,340	L30H	probably damaging	Het
Olfr304	G	A	7: 86,386,525	T45M	possibly damaging	Het
Pcdh8	T	C	14: 79,767,513	D927G	probably damaging	Het
Prelid3a	T	C	18: 67,472,897	Y25H	probably damaging	Het
Ptprm	T	C	17: 66,725,813	D1015G	probably damaging	Het
Rhox3f	G	T	X: 37,582,019	E140*	probably null	Het
Riox2	C	T	16: 59,491,894	L465F	probably benign	Het
Sec31b	G	T	19: 44,524,529	T507N	possibly damaging	Het
Stab1	C	T	14: 31,168,479	R5Q	probably damaging	Het
Stmn3	T	C	2: 181,307,296	K135E	possibly damaging	Het
Synj2	G	A	17: 6,007,965	G243S	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tshz2	C	A	2: 169,885,530	P213Q	probably benign	Het
Tssk4	A	G	14: 55,650,373	T9A	probably benign	Het
Ube4a	T	A	9: 44,948,949	I272F	probably damaging	Het
Unc79	T	C	12: 103,059,370	C339R	probably damaging	Het
Vmn2r87	T	C	10: 130,479,822	D125G	probably benign	Het
Yap1	A	T	9: 7,938,431	*358K	probably null	Het
Zfp992	C	T	4: 146,467,519	H566Y	probably damaging	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
R3979:Fam208a	UTSW	14	27477130	missense	possibly damaging	0.95
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
R7835:Fam208a	UTSW	14	27476643	missense	probably damaging	1.00
R7954:Fam208a	UTSW	14	27447524	critical splice donor site	probably null
R7981:Fam208a	UTSW	14	27446416	missense	possibly damaging	0.49
R8101:Fam208a	UTSW	14	27442481	missense	possibly damaging	0.90
R8160:Fam208a	UTSW	14	27449956	missense	probably damaging	1.00
R8307:Fam208a	UTSW	14	27471665	missense	probably damaging	1.00
R8913:Fam208a	UTSW	14	27466188	missense	probably damaging	1.00
R9070:Fam208a	UTSW	14	27472527	missense	probably benign	0.14
R9219:Fam208a	UTSW	14	27464387	missense	possibly damaging	0.50
R9420:Fam208a	UTSW	14	27441970	missense	probably damaging	0.99
X0002:Fam208a	UTSW	14	27472106	missense	possibly damaging	0.90
Z1176:Fam208a	UTSW	14	27429208	missense	probably damaging	0.97
Z1176:Fam208a	UTSW	14	27477148	missense	probably damaging	1.00
Z1177:Fam208a	UTSW	14	27448250	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCTTTAGGAGACCGAGGATAC -3'
(R):5'- TTCGAAACCAGGAGTAACAGCATAC -3'

Sequencing Primer
(F):5'- AGGAGACCGAGGATACCTTTTTC -3'
(R):5'- TACTGATTCCACAAAAATAATCCCAG -3'

Posted On

2015-05-14