Mutagenetix > Incidental Mutation

Incidental Mutation 'R7835:Fam208a'

605937

Institutional Source

Beutler Lab

Gene Symbol

Fam208a

Ensembl Gene

ENSMUSG00000040651

Gene Name

family with sequence similarity 208, member A

Synonyms

D14Abb1e, 4933409E02Rik

MMRRC Submission

045889-MU

Accession Numbers

Ensembl: ENSMUST00000059031; MGI: 1921694

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27428834-27483555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 27476643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 1311 (G1311C)

Ref Sequence

ENSEMBL: ENSMUSP00000022450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022450
AA Change: G1311C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: G1311C

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (48/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 79,099,875	S1465T	probably benign	Het
Accsl	T	A	2: 93,865,984	K90*	probably null	Het
Adamts3	A	T	5: 89,700,440	D674E	possibly damaging	Het
Adap2	T	A	11: 80,160,231	V129D	probably benign	Het
Ank3	A	G	10: 69,987,727	D742G		Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C330021F23Rik	A	G	8: 3,580,452		probably benign	Het
Cachd1	G	T	4: 100,974,153		probably null	Het
Ccne1	G	T	7: 38,102,845	Q133K	probably benign	Het
Cers3	C	T	7: 66,773,639	H111Y	possibly damaging	Het
Chst5	A	T	8: 111,890,602	L129M	probably damaging	Het
Depdc7	A	G	2: 104,728,185	S164P	probably benign	Het
Dnah10	G	A	5: 124,777,234	A1966T	probably damaging	Het
Fcgbp	T	G	7: 28,117,207	S2365A	possibly damaging	Het
Ihh	A	G	1: 74,946,366	V320A	probably damaging	Het
Kdm5d	T	C	Y: 900,558	V201A	possibly damaging	Het
Kif13b	T	A	14: 64,767,452	H1117Q	probably benign	Het
Lcn8	C	A	2: 25,655,296		probably null	Het
Lrp4	T	C	2: 91,495,042	V1404A	possibly damaging	Het
Lrrc61	A	T	6: 48,568,572	T110S	probably benign	Het
Mrpl19	G	A	6: 81,962,126	R232C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Mzt1	T	C	14: 99,046,003	T21A	probably benign	Het
Naip6	G	T	13: 100,316,004	A183E	probably benign	Het
Neb	T	C	2: 52,150,577	D6624G	probably benign	Het
Nup85	A	G	11: 115,570,071	D183G	probably benign	Het
Olfm5	A	T	7: 104,154,445	Y195*	probably null	Het
Olfr828	T	A	9: 18,815,809	M162L	probably benign	Het
Piezo2	A	T	18: 63,082,945	F1216I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Polr1a	T	C	6: 71,915,142	V135A	probably benign	Het
Ppcdc	A	G	9: 57,420,276	S83P	probably benign	Het
Prss21	A	T	17: 23,869,451	Q130L	possibly damaging	Het
Rdx	T	A	9: 52,065,788	N112K	probably damaging	Het
Rgs22	A	G	15: 36,081,911		probably null	Het
Rps26	C	T	10: 128,626,126	V40I	probably benign	Het
Runx2	A	T	17: 44,608,236	M405K	probably damaging	Het
Serinc2	A	C	4: 130,275,487	C4G	unknown	Het
Sh3rf2	C	A	18: 42,111,170	R266S	probably benign	Het
Slc38a10	A	G	11: 120,116,996	I386T	possibly damaging	Het
Stab2	G	A	10: 86,872,619	P1694L	probably benign	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tmem102	A	G	11: 69,804,345	V267A	probably damaging	Het
Trim65	A	G	11: 116,130,929	L26P	probably damaging	Het
Vmn1r160	T	A	7: 22,871,954	M244K	possibly damaging	Het
Vmn1r57	A	T	7: 5,221,139	H221L	probably benign	Het
Wdr89	C	A	12: 75,632,899	V194F	probably damaging	Het
Wee1	C	A	7: 110,130,878	Y396*	probably null	Het
Zfp451	A	T	1: 33,772,979	V885D	probably damaging	Het
Zfp981	A	T	4: 146,537,876	Q419H	probably benign	Het
Znfx1	A	G	2: 167,039,827	Y1081H	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
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
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
R9513:Fam208a	UTSW	14	27464314	nonsense	probably null
R9562:Fam208a	UTSW	14	27479809	critical splice donor site	probably null
R9565:Fam208a	UTSW	14	27479809	critical splice donor site	probably null
R9627:Fam208a	UTSW	14	27472166	missense	probably benign
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'- AGTGTGTGATTTTCCAATACTGAGC -3'
(R):5'- TAAGCCAGTTCCCCATGAATG -3'

Sequencing Primer
(F):5'- TGTGATTTTCCAATACTGAGCAATAG -3'
(R):5'- CATGAAAATCTAGGGCAACC -3'

Posted On

2019-12-20