Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02732:Fam208b'

305499

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam208b

Ensembl Gene

ENSMUSG00000033799

Gene Name

family with sequence similarity 208, member B

Synonyms

BC016423

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL02732

Quality Score

Status

Chromosome

Chromosomal Location

3566035-3611108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3573626 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2108 (V2108A)

Ref Sequence

ENSEMBL: ENSMUSP00000093774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096069]

Predicted Effect

probably benign
Transcript: ENSMUST00000096069
AA Change: V2108A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093774
Gene: ENSMUSG00000033799
AA Change: V2108A

Domain	Start	End	E-Value	Type
Pfam:DUF3699	91	167	1.4e-24	PFAM
low complexity region	272	282	N/A	INTRINSIC
low complexity region	447	459	N/A	INTRINSIC
Pfam:DUF3715	533	695	2.3e-25	PFAM
low complexity region	1156	1168	N/A	INTRINSIC
low complexity region	1196	1207	N/A	INTRINSIC
low complexity region	1312	1330	N/A	INTRINSIC
low complexity region	2012	2021	N/A	INTRINSIC
low complexity region	2250	2263	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222615

Predicted Effect

unknown
Transcript: ENSMUST00000222909
AA Change: V1426A

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	T	C	2: 28,465,180	N91S	probably damaging	Het
2410089E03Rik	A	G	15: 8,179,891	T271A	probably benign	Het
9230110F15Rik	C	T	9: 35,839,049	G109D	probably damaging	Het
Apoo-ps	C	A	13: 107,414,623		noncoding transcript	Het
Ash1l	T	A	3: 88,966,228	V106E	probably damaging	Het
Baz2a	A	G	10: 128,125,175	T1618A	possibly damaging	Het
Brca1	A	G	11: 101,492,219	S1732P	probably benign	Het
Cdh1	T	A	8: 106,666,323	I813N	probably damaging	Het
Cdk5rap2	G	A	4: 70,266,665	R1183*	probably null	Het
Cep170	C	T	1: 176,736,874	E1479K	probably damaging	Het
Cep68	A	T	11: 20,236,109		probably benign	Het
Cog7	C	T	7: 121,923,367	V750I	probably benign	Het
Cyb5d1	A	C	11: 69,393,809		probably null	Het
Dlgap4	A	G	2: 156,749,323	K120E	probably benign	Het
Dmtf1	T	C	5: 9,136,098	I75V	possibly damaging	Het
Fam103a1	T	C	7: 81,767,725		probably null	Het
Fnip2	T	C	3: 79,465,697	T995A	probably damaging	Het
Hecw2	G	A	1: 53,926,688		probably benign	Het
Il17rd	T	A	14: 27,087,419	F111I	probably damaging	Het
Itgb8	A	C	12: 119,163,353	M722R	probably benign	Het
Maip1	A	G	1: 57,409,955	D165G	probably damaging	Het
Mcm6	A	T	1: 128,359,490	C26S	probably benign	Het
Mdp1	T	C	14: 55,659,221	I128V	possibly damaging	Het
Myof	A	T	19: 37,977,716	F385L	possibly damaging	Het
Nebl	C	T	2: 17,452,484		probably benign	Het
Nusap1	A	G	2: 119,635,580	E227G	probably damaging	Het
Olfr142	A	G	2: 90,252,308	S227P	probably damaging	Het
Olfr594	A	C	7: 103,220,240	N174T	probably benign	Het
Olfr631	T	G	7: 103,929,129	M102R	probably damaging	Het
Pamr1	A	T	2: 102,642,141	H595L	probably benign	Het
Pdgfc	G	A	3: 81,037,557		probably benign	Het
Ptpn22	A	T	3: 103,886,033	E500V	probably damaging	Het
Ptprg	G	T	14: 12,225,617		probably null	Het
R3hdm2	T	C	10: 127,484,060	F513L	probably benign	Het
Rhobtb3	C	A	13: 75,910,937	L247F	probably damaging	Het
Scfd1	T	C	12: 51,422,973	S434P	probably benign	Het
Serpinb3d	T	A	1: 107,082,796		probably null	Het
Sin3b	T	C	8: 72,733,453	F223L	possibly damaging	Het
Slc9c1	T	C	16: 45,550,185	V263A	possibly damaging	Het
Sntb1	A	G	15: 55,792,200	S207P	possibly damaging	Het
Sqor	A	T	2: 122,799,762	T1S	possibly damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Ssh2	A	G	11: 77,437,776		probably null	Het
Tmod2	A	G	9: 75,586,172	V167A	possibly damaging	Het
Trak2	G	A	1: 58,910,063	T526M	probably benign	Het
Trdn	G	A	10: 33,468,199		probably null	Het
Trim5	T	A	7: 104,278,465	E156V	probably benign	Het
Twf1	A	G	15: 94,581,009	S273P	probably damaging	Het
Xylt1	T	C	7: 117,591,937	V320A	possibly damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Fam208b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Fam208b	APN	13	3574832	missense	probably benign
IGL00670:Fam208b	APN	13	3585241	missense	probably benign	0.14
IGL00957:Fam208b	APN	13	3577101	missense	possibly damaging	0.86
IGL01311:Fam208b	APN	13	3575885	missense	possibly damaging	0.85
IGL01318:Fam208b	APN	13	3575067	missense	possibly damaging	0.66
IGL01767:Fam208b	APN	13	3576633	missense	probably benign	0.00
IGL02073:Fam208b	APN	13	3574721	missense	probably benign	0.01
IGL02152:Fam208b	APN	13	3585371	missense	probably benign
IGL02431:Fam208b	APN	13	3574736	missense	possibly damaging	0.85
IGL02478:Fam208b	APN	13	3574661	missense	probably benign	0.12
IGL02745:Fam208b	APN	13	3585140	missense	probably benign	0.23
IGL02800:Fam208b	APN	13	3585154	missense	probably benign
IGL02989:Fam208b	APN	13	3584820	missense	probably benign	0.01
IGL03124:Fam208b	APN	13	3574704	missense	probably benign	0.41
IGL03154:Fam208b	APN	13	3575255	missense	possibly damaging	0.56
IGL03216:Fam208b	APN	13	3574553	missense	probably damaging	0.98
H8562:Fam208b	UTSW	13	3577000	missense	probably damaging	0.98
PIT4585001:Fam208b	UTSW	13	3574979	missense	possibly damaging	0.55
R0016:Fam208b	UTSW	13	3585170	unclassified	probably null
R0016:Fam208b	UTSW	13	3585170	unclassified	probably null
R0157:Fam208b	UTSW	13	3575550	missense	probably benign	0.06
R0375:Fam208b	UTSW	13	3596842	missense	possibly damaging	0.85
R0403:Fam208b	UTSW	13	3582052	nonsense	probably null
R0472:Fam208b	UTSW	13	3588364	missense	possibly damaging	0.93
R0517:Fam208b	UTSW	13	3566964	missense	possibly damaging	0.94
R0586:Fam208b	UTSW	13	3590321	missense	probably damaging	0.99
R0600:Fam208b	UTSW	13	3576054	missense	probably benign
R0659:Fam208b	UTSW	13	3574448	missense	probably damaging	0.99
R1257:Fam208b	UTSW	13	3575049	missense	probably benign	0.25
R1375:Fam208b	UTSW	13	3576029	missense	probably benign	0.06
R1443:Fam208b	UTSW	13	3575543	missense	probably benign	0.00
R1497:Fam208b	UTSW	13	3570409	missense	probably damaging	0.96
R1544:Fam208b	UTSW	13	3590413	missense	possibly damaging	0.68
R1554:Fam208b	UTSW	13	3576374	missense	possibly damaging	0.85
R1629:Fam208b	UTSW	13	3574121	missense	possibly damaging	0.84
R1633:Fam208b	UTSW	13	3581771	missense	possibly damaging	0.53
R1661:Fam208b	UTSW	13	3573860	missense	possibly damaging	0.63
R1673:Fam208b	UTSW	13	3584498	critical splice donor site	probably null
R1675:Fam208b	UTSW	13	3569507	missense	possibly damaging	0.65
R1781:Fam208b	UTSW	13	3584759	missense	possibly damaging	0.95
R1792:Fam208b	UTSW	13	3590559	missense	possibly damaging	0.91
R1826:Fam208b	UTSW	13	3581759	missense	probably damaging	0.98
R1920:Fam208b	UTSW	13	3576612	missense	possibly damaging	0.63
R1983:Fam208b	UTSW	13	3574853	missense	possibly damaging	0.92
R2016:Fam208b	UTSW	13	3576770	missense	probably benign	0.41
R2017:Fam208b	UTSW	13	3576770	missense	probably benign	0.41
R2220:Fam208b	UTSW	13	3581872	missense	probably benign	0.00
R2513:Fam208b	UTSW	13	3582150	missense	possibly damaging	0.53
R2898:Fam208b	UTSW	13	3585122	missense	possibly damaging	0.82
R2904:Fam208b	UTSW	13	3582185	missense	possibly damaging	0.53
R3149:Fam208b	UTSW	13	3574359	missense	probably damaging	0.98
R3623:Fam208b	UTSW	13	3595556	missense	probably benign
R3624:Fam208b	UTSW	13	3595556	missense	probably benign
R3725:Fam208b	UTSW	13	3590538	missense	probably benign	0.33
R3835:Fam208b	UTSW	13	3575292	missense	probably benign	0.01
R3890:Fam208b	UTSW	13	3596785	missense	probably damaging	0.96
R4023:Fam208b	UTSW	13	3584554	missense	probably damaging	0.99
R4024:Fam208b	UTSW	13	3584554	missense	probably damaging	0.99
R4025:Fam208b	UTSW	13	3584554	missense	probably damaging	0.99
R4050:Fam208b	UTSW	13	3573507	missense	probably benign	0.09
R4308:Fam208b	UTSW	13	3569498	missense	probably damaging	0.97
R4484:Fam208b	UTSW	13	3581831	missense	probably benign	0.12
R4674:Fam208b	UTSW	13	3573686	missense	possibly damaging	0.69
R4718:Fam208b	UTSW	13	3574495	missense	probably benign	0.00
R4745:Fam208b	UTSW	13	3590069	missense	probably benign	0.26
R4776:Fam208b	UTSW	13	3570391	missense	probably damaging	1.00
R4839:Fam208b	UTSW	13	3584807	missense	probably damaging	0.96
R4855:Fam208b	UTSW	13	3566680	splice site	probably null
R5049:Fam208b	UTSW	13	3574000	missense	probably benign	0.00
R5076:Fam208b	UTSW	13	3576357	missense	probably benign	0.41
R5287:Fam208b	UTSW	13	3575744	missense	probably benign	0.41
R5298:Fam208b	UTSW	13	3595613	splice site	probably null
R5379:Fam208b	UTSW	13	3588496	missense	probably benign	0.41
R5512:Fam208b	UTSW	13	3595517	missense	probably damaging	0.99
R5624:Fam208b	UTSW	13	3584996	missense	possibly damaging	0.66
R5750:Fam208b	UTSW	13	3573642	nonsense	probably null
R6114:Fam208b	UTSW	13	3590081	missense	probably damaging	1.00
R6118:Fam208b	UTSW	13	3581891	missense	possibly damaging	0.76
R6119:Fam208b	UTSW	13	3581891	missense	possibly damaging	0.76
R6269:Fam208b	UTSW	13	3581891	missense	possibly damaging	0.76
R6270:Fam208b	UTSW	13	3581891	missense	possibly damaging	0.76
R6271:Fam208b	UTSW	13	3581891	missense	possibly damaging	0.76
R6272:Fam208b	UTSW	13	3581891	missense	possibly damaging	0.76
R6525:Fam208b	UTSW	13	3576540	nonsense	probably null
R6550:Fam208b	UTSW	13	3590519	missense	possibly damaging	0.85
R6714:Fam208b	UTSW	13	3594189	missense	probably benign	0.00
R6797:Fam208b	UTSW	13	3576769	missense	probably benign	0.26
R6967:Fam208b	UTSW	13	3574819	missense	probably benign	0.22
R7016:Fam208b	UTSW	13	3576857	missense	possibly damaging	0.92
R7219:Fam208b	UTSW	13	3590521	missense	probably damaging	0.99
R7454:Fam208b	UTSW	13	3585332	missense	probably benign	0.21
R7570:Fam208b	UTSW	13	3573621	missense	probably damaging	0.99
R7571:Fam208b	UTSW	13	3575292	missense	probably benign	0.01
R7580:Fam208b	UTSW	13	3574752	missense	probably damaging	0.99
R7587:Fam208b	UTSW	13	3568849	missense	possibly damaging	0.83
R7657:Fam208b	UTSW	13	3573777	missense	probably damaging	0.98
R7810:Fam208b	UTSW	13	3575714	missense	possibly damaging	0.61
X0024:Fam208b	UTSW	13	3599837	missense	probably null	0.99
X0025:Fam208b	UTSW	13	3576827	missense	probably benign	0.15
X0066:Fam208b	UTSW	13	3588441	missense	probably benign	0.04

Posted On

2015-04-16