Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00924:Mybbp1a'

28528

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mybbp1a

Ensembl Gene

ENSMUSG00000040463

Gene Name

MYB binding protein (P160) 1a

Synonyms

p160MBP, p67MBP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00924

Quality Score

Status

Chromosome

Chromosomal Location

72441355-72451768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72443567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 216 (F216Y)

Ref Sequence

ENSEMBL: ENSMUSP00000044827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045633]

AlphaFold

Q7TPV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000045633
AA Change: F216Y

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

SMART Domains

Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: F216Y

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:DNA_pol_phi	70	835	1.2e-194	PFAM
low complexity region	839	852	N/A	INTRINSIC
low complexity region	1080	1090	N/A	INTRINSIC
low complexity region	1109	1122	N/A	INTRINSIC
low complexity region	1259	1269	N/A	INTRINSIC
low complexity region	1314	1329	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162048

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality before blastocyst formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,215,862	V112A	probably benign	Het
Atp1a4	T	A	1: 172,246,772	I305F	probably damaging	Het
AW209491	A	G	13: 14,637,075	N171S	probably damaging	Het
Bank1	G	T	3: 136,247,634	A120E	probably damaging	Het
Bdp1	T	A	13: 100,097,579	E206D	possibly damaging	Het
Brd1	T	C	15: 88,729,409	K428E	possibly damaging	Het
C530008M17Rik	A	G	5: 76,858,986	T1065A	unknown	Het
Ccdc42	A	G	11: 68,594,621	I191V	probably benign	Het
Coa7	G	T	4: 108,338,308	G145C	possibly damaging	Het
Cpm	T	G	10: 117,676,066	I305S	probably damaging	Het
Dlc1	A	T	8: 36,938,214	S140R	probably benign	Het
Dnajc14	A	G	10: 128,817,319	T674A	probably benign	Het
Dnajc7	A	G	11: 100,584,285	I437T	possibly damaging	Het
Entpd5	A	T	12: 84,387,054	V147E	probably damaging	Het
Gpr139	A	G	7: 119,184,287	C30R	probably benign	Het
Habp4	A	G	13: 64,174,071	D174G	probably damaging	Het
Has3	T	C	8: 106,878,599	F479S	probably benign	Het
Helb	T	A	10: 120,110,984	K141N	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kdm1b	G	A	13: 47,068,480	R465H	probably benign	Het
Lrrc57	A	T	2: 120,606,051	M86K	possibly damaging	Het
Map7d1	A	G	4: 126,238,605	V258A	probably damaging	Het
Ncan	T	A	8: 70,108,389	M643L	possibly damaging	Het
Ngdn	T	C	14: 55,023,169	I278T	probably damaging	Het
Olfr1199	T	C	2: 88,756,156	D173G	possibly damaging	Het
Olfr460	C	T	6: 40,571,454	R23C	probably benign	Het
P4hb	G	T	11: 120,563,818	Q245K	probably benign	Het
Pcx	G	A	19: 4,620,937	V1089I	probably benign	Het
Phc3	A	T	3: 30,936,475	M498K	probably damaging	Het
Pkd1	T	A	17: 24,571,627	L1025*	probably null	Het
Sdhaf2	G	A	19: 10,517,016	P110S	probably damaging	Het
Slc22a20	T	C	19: 5,970,516	K538E	probably benign	Het
Soga1	T	G	2: 157,040,705	M476L	probably damaging	Het
Spag11b	T	A	8: 19,142,640	V78D	probably damaging	Het
Tgm3	T	C	2: 130,038,374	C367R	probably damaging	Het
Unc5a	G	A	13: 55,004,514	E741K	probably damaging	Het
Vmn2r58	A	T	7: 41,837,467	L668H	probably damaging	Het
Wdr62	G	A	7: 30,242,806	P603S	probably damaging	Het
Wdr62	G	A	7: 30,265,218	T367I	probably damaging	Het
Xab2	G	A	8: 3,611,723	R577W	probably damaging	Het

Other mutations in Mybbp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03240:Mybbp1a	APN	11	72445666	missense	possibly damaging	0.95
IGL03271:Mybbp1a	APN	11	72443918	splice site	probably benign
IGL03344:Mybbp1a	APN	11	72445202	missense	probably damaging	1.00
fratelli	UTSW	11	72445712	missense	probably benign	0.02
primi	UTSW	11	72442901	splice site	probably null
sorelli	UTSW	11	72447759	missense	possibly damaging	0.94
R0276:Mybbp1a	UTSW	11	72450107	splice site	probably null
R0437:Mybbp1a	UTSW	11	72448848	missense	possibly damaging	0.75
R0551:Mybbp1a	UTSW	11	72448376	missense	probably benign	0.06
R1394:Mybbp1a	UTSW	11	72443648	missense	probably damaging	1.00
R1667:Mybbp1a	UTSW	11	72445217	missense	probably benign	0.00
R1888:Mybbp1a	UTSW	11	72446037	missense	probably benign	0.18
R1888:Mybbp1a	UTSW	11	72446037	missense	probably benign	0.18
R1891:Mybbp1a	UTSW	11	72446037	missense	probably benign	0.18
R1894:Mybbp1a	UTSW	11	72446037	missense	probably benign	0.18
R2074:Mybbp1a	UTSW	11	72441445	missense	probably benign	0.01
R2257:Mybbp1a	UTSW	11	72446195	missense	probably benign	0.10
R3739:Mybbp1a	UTSW	11	72448737	missense	possibly damaging	0.77
R3983:Mybbp1a	UTSW	11	72447170	missense	probably damaging	1.00
R4191:Mybbp1a	UTSW	11	72451287	missense	probably damaging	0.97
R4660:Mybbp1a	UTSW	11	72445712	missense	probably benign	0.02
R4667:Mybbp1a	UTSW	11	72447971	missense	possibly damaging	0.94
R4769:Mybbp1a	UTSW	11	72445640	missense	probably damaging	1.00
R4982:Mybbp1a	UTSW	11	72445214	missense	probably damaging	0.99
R5451:Mybbp1a	UTSW	11	72448113	missense	probably damaging	0.99
R5514:Mybbp1a	UTSW	11	72450636	missense	possibly damaging	0.61
R5548:Mybbp1a	UTSW	11	72446172	missense	probably damaging	1.00
R5673:Mybbp1a	UTSW	11	72444925	missense	probably benign	0.30
R5947:Mybbp1a	UTSW	11	72442431	missense	probably damaging	1.00
R6161:Mybbp1a	UTSW	11	72446012	missense	probably damaging	1.00
R6785:Mybbp1a	UTSW	11	72447566	missense	probably benign	0.00
R7154:Mybbp1a	UTSW	11	72447642	splice site	probably null
R7227:Mybbp1a	UTSW	11	72447759	missense	possibly damaging	0.94
R7238:Mybbp1a	UTSW	11	72443512	missense	probably damaging	1.00
R7441:Mybbp1a	UTSW	11	72451275	missense	probably benign	0.01
R7833:Mybbp1a	UTSW	11	72442901	splice site	probably null
R8213:Mybbp1a	UTSW	11	72444721	missense	probably damaging	1.00
R8324:Mybbp1a	UTSW	11	72445288	critical splice donor site	probably null
R8474:Mybbp1a	UTSW	11	72447737	missense	probably benign	0.01
R8972:Mybbp1a	UTSW	11	72446250	missense	probably benign	0.35
R9018:Mybbp1a	UTSW	11	72443594	missense	probably benign	0.09
R9380:Mybbp1a	UTSW	11	72442842	missense	probably benign	0.24
R9505:Mybbp1a	UTSW	11	72449071	missense	probably benign	0.26
X0050:Mybbp1a	UTSW	11	72441677	critical splice acceptor site	probably null

Posted On

2013-04-17