Mutagenetix > Incidental Mutation

Incidental Mutation 'R2257:Mybbp1a'

243473

Institutional Source

Beutler Lab

Gene Symbol

Mybbp1a

Ensembl Gene

ENSMUSG00000040463

Gene Name

MYB binding protein (P160) 1a

Synonyms

p160MBP, p67MBP

MMRRC Submission

040257-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72441355-72451768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72446195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 586 (S586T)

Ref Sequence

ENSEMBL: ENSMUSP00000044827 (fasta)

Gene Model

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

AlphaFold

Q7TPV4

Predicted Effect

probably benign
Transcript: ENSMUST00000045633
AA Change: S586T

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: S586T

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: ENSMUST00000144923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162048

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
4930567H17Rik	A	T	X: 70,394,406	W94R	probably damaging	Het
4931409K22Rik	C	T	5: 24,552,040		probably benign	Het
Abcc3	C	T	11: 94,363,594	V693M	probably damaging	Het
Acp7	A	C	7: 28,614,413	W399G	probably damaging	Het
Ap1s1	T	C	5: 137,041,779	Y94C	possibly damaging	Het
Arhgap32	T	C	9: 32,247,497	I186T	probably damaging	Het
Atg4a	A	G	X: 140,990,235	I91V	probably benign	Het
Atp7b	T	G	8: 21,998,266	T1102P	probably damaging	Het
Cabs1	T	C	5: 87,980,215	S242P	probably damaging	Het
Cass4	T	C	2: 172,427,470	F493L	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Cdk14	T	A	5: 4,888,924	M433L	probably benign	Het
Cep162	C	A	9: 87,206,914	D972Y	probably damaging	Het
Cfap100	C	G	6: 90,413,820	R184P	possibly damaging	Het
Clasrp	A	G	7: 19,586,585		probably benign	Het
Copb1	T	A	7: 114,253,875	D29V	possibly damaging	Het
Cyp2b9	G	A	7: 26,173,605		probably null	Het
Dhx36	C	T	3: 62,477,643	G683S	probably damaging	Het
Dnah10	T	A	5: 124,761,237	I1110N	probably damaging	Het
Dnajc3	C	G	14: 118,972,702	P322A	probably benign	Het
Eml4	A	G	17: 83,477,760	T785A	probably damaging	Het
Fam228a	T	C	12: 4,737,775		probably benign	Het
Fam83e	A	T	7: 45,728,769	K406*	probably null	Het
Fam83e	A	T	7: 45,728,770	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 21,963,517	L296Q	possibly damaging	Het
Fat1	A	G	8: 44,950,371	Y53C	probably damaging	Het
Fcrls	T	C	3: 87,259,621	I22V	probably damaging	Het
Fryl	T	A	5: 73,072,844	N1657Y	possibly damaging	Het
Greb1l	A	G	18: 10,503,307	M453V	possibly damaging	Het
Grm8	A	T	6: 27,760,225	C369S	probably damaging	Het
Hdc	G	A	2: 126,616,080		probably null	Het
Hsf3	A	T	X: 96,320,322	L191*	probably null	Het
Kif4	A	T	X: 100,726,131	N1126Y	probably benign	Het
Lat2	T	C	5: 134,602,627	D191G	probably damaging	Het
Lipt2	C	T	7: 100,159,394	T38I	probably benign	Het
Lmo7	T	C	14: 101,900,130	L634P	probably damaging	Het
Lrrc6	T	A	15: 66,437,587		probably benign	Het
Magea2	A	T	X: 155,027,859	L243Q	probably damaging	Het
Mctp2	A	G	7: 72,185,820	L543P	probably damaging	Het
Mgat4a	T	C	1: 37,490,313	N24D	probably benign	Het
Mical3	A	T	6: 121,033,735	S429T	possibly damaging	Het
Mrps35	A	G	6: 147,070,627	E256G	possibly damaging	Het
Myo1e	G	A	9: 70,378,373		probably null	Het
Nob1	A	G	8: 107,417,097		probably benign	Het
Nom1	T	A	5: 29,437,752	V417D	probably damaging	Het
Nphs1	A	T	7: 30,467,992	I782F	possibly damaging	Het
Numa1	A	G	7: 102,000,791	E1243G	probably damaging	Het
Olfr676	A	G	7: 105,035,819	Y207C	probably benign	Het
Olfr845	A	G	9: 19,338,493	E11G	probably benign	Het
Padi4	G	A	4: 140,759,940	T217I	possibly damaging	Het
Pias3	C	T	3: 96,699,646	T75I	probably benign	Het
Ppp1r37	G	T	7: 19,562,018		probably benign	Het
Prrc2a	G	A	17: 35,161,068	P185L	unknown	Het
Prss57	C	T	10: 79,787,370	C81Y	probably damaging	Het
Psen1	C	T	12: 83,714,820	S132L	probably damaging	Het
Ranbp6	A	G	19: 29,811,549	S468P	possibly damaging	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Slc2a9	T	C	5: 38,453,199	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,091,016	M555K	probably benign	Het
Thoc1	C	A	18: 9,993,466	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,492,069	Y562*	probably null	Het
Tmem121b	A	G	6: 120,492,071	Y562H	probably damaging	Het
Tmprss7	A	T	16: 45,686,333	M122K	possibly damaging	Het
Tmub1	C	A	5: 24,446,924	G14V	possibly damaging	Het
Uap1	A	T	1: 170,158,743		probably benign	Het
Ugdh	A	T	5: 65,417,115		probably benign	Het
Vmn2r59	A	T	7: 42,012,245	C715*	probably null	Het
Vps13a	G	A	19: 16,682,174	T1663I	possibly damaging	Het
Vps13c	A	C	9: 67,952,946	I2815L	possibly damaging	Het
Zc3h3	G	T	15: 75,839,566	Q349K	possibly damaging	Het

Other mutations in Mybbp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Mybbp1a	APN	11	72443567	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTGTGACATCCTTGACAACAC -3'
(R):5'- ACTCACACAGATGGAGCAGG -3'

Sequencing Primer
(F):5'- TTGACAACACAGCAGCGTCAG -3'
(R):5'- GCAACTTTCATGCAGGACTG -3'

Posted On

2014-10-16