Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Fam208a'

318067

Institutional Source

Beutler Lab

Gene Symbol

Fam208a

Ensembl Gene

ENSMUSG00000040651

Gene Name

family with sequence similarity 208, member A

Synonyms

D14Abb1e, 4933409E02Rik

MMRRC Submission

039974-MU

Accession Numbers

Ensembl: ENSMUST00000059031; MGI: 1921694

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27428834-27483555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27479789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 1419 (H1419Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022450] [ENSMUST00000050480] [ENSMUST00000223689]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022450
AA Change: H1419Y

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

SMART Domains

Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: H1419Y

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: ENSMUST00000050480

SMART Domains

Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753

Domain	Start	End	E-Value	Type
coiled coil region	252	284	N/A	INTRINSIC
Pfam:CCDC66	409	561	1e-49	PFAM
low complexity region	715	721	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224837

Predicted Effect

unknown
Transcript: ENSMUST00000225139
AA Change: H71Y

Meta Mutation Damage Score

0.3620

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,938,221	P55S	probably damaging	Het
Adgre4	T	C	17: 55,791,497	S136P	probably benign	Het
Als2cr12	A	T	1: 58,659,278	V327D	possibly damaging	Het
Arap1	C	A	7: 101,373,015	A8E	probably damaging	Het
Arid1a	A	T	4: 133,753,090	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,644,705	I358T	probably benign	Het
Camkk2	G	A	5: 122,737,512	R492*	probably null	Het
Capn3	T	C	2: 120,463,940	V23A	probably benign	Het
Carm1	T	G	9: 21,580,310	V225G	probably benign	Het
Ccdc113	T	A	8: 95,540,831	N141K	probably benign	Het
Ccdc60	C	A	5: 116,146,184	M298I	probably benign	Het
Celsr3	C	T	9: 108,845,817	P2801L	probably benign	Het
Clec4n	T	A	6: 123,230,546	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,221,750	L231V	probably damaging	Het
Csrnp3	T	G	2: 66,023,019	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,111	S318P	probably damaging	Het
Cubn	A	T	2: 13,340,017		probably null	Het
Dgkd	C	A	1: 87,929,827	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,684,983	S108P	probably benign	Het
Dnajc24	A	G	2: 106,001,923		probably benign	Het
Dner	A	T	1: 84,445,456	S475R	probably damaging	Het
Doxl2	C	T	6: 48,975,753	T204I	probably damaging	Het
Dtnb	T	C	12: 3,781,190	L630P	probably benign	Het
Dysf	T	C	6: 84,073,903	F411L	probably benign	Het
Fbxo18	G	A	2: 11,757,528	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,485,936	T186K	probably benign	Het
Gm4825	A	G	15: 85,511,044		noncoding transcript	Het
Grhl2	T	A	15: 37,336,314	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,675,991	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,677,376	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,262,984	V314A	probably benign	Het
Kif13a	G	A	13: 46,864,838		probably benign	Het
Kif21a	G	A	15: 90,970,848	A703V	probably damaging	Het
Kifc1	A	G	17: 33,884,587		probably null	Het
Klk13	T	A	7: 43,721,007	N31K	possibly damaging	Het
Klri1	T	A	6: 129,697,384	H221L	probably benign	Het
Ltbp4	G	A	7: 27,329,018	P273L	unknown	Het
Med16	T	C	10: 79,907,095	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,462,911	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,427,235	I92F	probably benign	Het
Muc5b	T	C	7: 141,862,637	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,147,857	F441I	probably damaging	Het
Ndst4	T	A	3: 125,438,682	L300*	probably null	Het
Nlgn2	G	T	11: 69,827,310	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,327,738	E553G	probably damaging	Het
Oas1f	G	A	5: 120,856,439	C341Y	possibly damaging	Het
Olfm5	A	T	7: 104,160,412	C111S	possibly damaging	Het
Olfr1176	T	C	2: 88,340,201	L212P	probably damaging	Het
Olfr523	A	T	7: 140,176,683	I188L	probably benign	Het
Olfr697	T	C	7: 106,741,394	E180G	probably damaging	Het
Olfr821	C	T	10: 130,034,318	Q231*	probably null	Het
Olfr876	A	G	9: 37,803,946	I12V	probably benign	Het
Olfr919	T	A	9: 38,698,204	H58L	probably benign	Het
Oplah	G	A	15: 76,297,464	T1119I	probably damaging	Het
Pde10a	T	C	17: 8,942,918	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,597,460	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,065,783	T338S	probably benign	Het
Pgghg	A	G	7: 140,943,347	M180V	probably benign	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Pot1b	A	T	17: 55,662,531	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,706,503	T463A	probably benign	Het
Rap1gds1	T	C	3: 139,050,556	I13V	probably null	Het
Rbak	A	T	5: 143,174,682	Y205*	probably null	Het
Reg3b	A	T	6: 78,371,814	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,115,534	Y12*	probably null	Het
Rnase6	A	G	14: 51,130,432	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,736,464	L273P	probably damaging	Het
Ryr3	A	C	2: 112,794,467	F2203V	probably damaging	Het
Sae1	A	T	7: 16,368,565	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,731	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,384,863	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,169,193	R415M	probably benign	Het
Slc25a25	C	T	2: 32,420,651		probably null	Het
Slco4c1	T	A	1: 96,867,929	M135L	probably benign	Het
Slfn1	A	G	11: 83,121,753	I232V	possibly damaging	Het
Slitrk1	T	A	14: 108,912,190	N363I	probably damaging	Het
Srr	A	G	11: 74,908,716	V311A	probably damaging	Het
Tenm1	T	C	X: 42,827,201	D402G	probably benign	Het
Topors	T	C	4: 40,261,044	R747G	unknown	Het
Trank1	A	T	9: 111,391,628	I2478F	probably damaging	Het
Trim69	A	G	2: 122,167,684	N46D	probably benign	Het
Trpm1	T	A	7: 64,230,230	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,480,224	F45V	probably damaging	Het
Ttn	T	C	2: 76,814,305	K4708R	probably damaging	Het
Unkl	A	G	17: 25,209,645		probably benign	Het
Uros	A	T	7: 133,687,006	N257K	probably benign	Het
Usp25	A	G	16: 77,076,371	Y439C	probably damaging	Het
Vgf	A	G	5: 137,032,175		probably benign	Het
Vmn2r8	A	T	5: 108,799,286	D533E	probably damaging	Het
Vps13a	A	T	19: 16,725,631	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,495,742	V135A	possibly 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
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
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
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'- CTGCTTACTCTCCCAGAATGAAC -3'
(R):5'- GTGATAGCCCACAAGACTTGTAAAG -3'

Sequencing Primer
(F):5'- ACACGAAAGCTCTGAGTCTGCTG -3'
(R):5'- GTCTTCAGTAGTTGCAACGAC -3'

Posted On

2015-05-19