Mutagenetix > Incidental Mutation

Incidental Mutation 'R0437:Mybbp1a'

39093

Institutional Source

Beutler Lab

Gene Symbol

Mybbp1a

Ensembl Gene

ENSMUSG00000040463

Gene Name

MYB binding protein (P160) 1a

Synonyms

p67MBP, p160MBP

MMRRC Submission

038638-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0437 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

72332181-72342594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72339674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 919 (V919A)

Ref Sequence

ENSEMBL: ENSMUSP00000044827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045303] [ENSMUST00000045633]

AlphaFold

Q7TPV4

Predicted Effect

probably benign
Transcript: ENSMUST00000045303

SMART Domains

Protein: ENSMUSP00000044418
Gene: ENSMUSG00000040447

Domain	Start	End	E-Value	Type
low complexity region	5	53	N/A	INTRINSIC
Pfam:Sugar_tr	104	308	7.6e-16	PFAM
Pfam:OATP	106	427	7.2e-13	PFAM
Pfam:MFS_1	108	476	2.7e-37	PFAM
transmembrane domain	506	528	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045633
AA Change: V919A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: V919A

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: ENSMUST00000126452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150491

Predicted Effect

probably benign
Transcript: ENSMUST00000144940

SMART Domains

Protein: ENSMUSP00000120722
Gene: ENSMUSG00000040447

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (104/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,606,631 (GRCm39)	R291K	probably benign	Het
Abca2	T	C	2: 25,332,857 (GRCm39)	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,087,639 (GRCm39)	A1042V	probably damaging	Het
Abcc10	A	T	17: 46,623,845 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,623,846 (GRCm39)		probably benign	Het
Alkbh3	A	C	2: 93,811,914 (GRCm39)	L240V	probably damaging	Het
Apol10b	T	C	15: 77,469,608 (GRCm39)	S190G	probably benign	Het
Atp1a3	C	A	7: 24,698,392 (GRCm39)	C135F	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
Bicra	A	G	7: 15,722,687 (GRCm39)	S277P	possibly damaging	Het
Bltp1	A	T	3: 37,043,953 (GRCm39)	H2820L	possibly damaging	Het
Bmp8a	T	C	4: 123,210,690 (GRCm39)	E275G	probably benign	Het
Ccdc102a	T	C	8: 95,640,054 (GRCm39)	E80G	probably damaging	Het
Cdh23	T	C	10: 60,246,576 (GRCm39)	D954G	probably damaging	Het
Chrm4	A	G	2: 91,758,788 (GRCm39)	T399A	possibly damaging	Het
Clcn3	A	G	8: 61,387,571 (GRCm39)	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,952,164 (GRCm39)		probably null	Het
Crx	G	T	7: 15,605,071 (GRCm39)	S57*	probably null	Het
Cstpp1	A	G	2: 91,252,298 (GRCm39)	L21P	probably damaging	Het
Cyp4f16	A	G	17: 32,756,072 (GRCm39)	I34V	possibly damaging	Het
Daxx	T	C	17: 34,132,598 (GRCm39)	V576A	probably benign	Het
Ddx17	C	T	15: 79,421,672 (GRCm39)	R351H	probably damaging	Het
Dhx38	T	C	8: 110,285,261 (GRCm39)		probably benign	Het
Dnd1	T	C	18: 36,897,552 (GRCm39)		probably benign	Het
Dync1i2	A	T	2: 71,058,169 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,866,446 (GRCm39)	S52P	probably benign	Het
Epb41l4a	A	G	18: 34,013,326 (GRCm39)	F116S	probably damaging	Het
Ext1	T	C	15: 52,969,502 (GRCm39)	N362S	probably damaging	Het
Fam227a	C	A	15: 79,528,189 (GRCm39)	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,782,759 (GRCm39)	L111F	probably damaging	Het
Fat2	T	C	11: 55,173,625 (GRCm39)	T2363A	probably benign	Het
Fat3	A	T	9: 15,908,228 (GRCm39)	N2591K	probably damaging	Het
Frem2	A	G	3: 53,560,436 (GRCm39)	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,400,424 (GRCm39)	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,823,918 (GRCm39)		noncoding transcript	Het
Galnt3	A	G	2: 65,937,573 (GRCm39)	S46P	possibly damaging	Het
Gmeb2	A	G	2: 180,895,766 (GRCm39)	V468A	possibly damaging	Het
Herc2	C	T	7: 55,869,563 (GRCm39)	R4271*	probably null	Het
Il5	C	A	11: 53,614,733 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,818 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,556,453 (GRCm39)	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,670,126 (GRCm39)	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,690,922 (GRCm39)	V281M	probably benign	Het
Lcp2	T	C	11: 34,037,229 (GRCm39)	L391P	probably benign	Het
Lrrc66	T	C	5: 73,765,030 (GRCm39)	Y671C	probably benign	Het
Mettl23	T	C	11: 116,740,120 (GRCm39)	V197A	possibly damaging	Het
Mmp15	C	A	8: 96,097,400 (GRCm39)	D456E	probably benign	Het
Mospd4	T	C	18: 46,598,848 (GRCm39)		noncoding transcript	Het
Mov10l1	C	A	15: 88,889,515 (GRCm39)	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,453,631 (GRCm39)	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,233,933 (GRCm39)		probably null	Het
Mycbpap	A	T	11: 94,404,338 (GRCm39)		probably benign	Het
Naip6	G	A	13: 100,433,432 (GRCm39)	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,049,544 (GRCm39)	M50K	probably benign	Het
Npr2	T	C	4: 43,648,082 (GRCm39)	V842A	probably damaging	Het
Ntsr2	G	T	12: 16,703,696 (GRCm39)	G66W	probably damaging	Het
Obscn	T	C	11: 58,885,914 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or4c11	T	A	2: 88,695,229 (GRCm39)	N93K	probably benign	Het
Or4c114	T	A	2: 88,904,956 (GRCm39)	I160F	probably benign	Het
Or6c33	T	C	10: 129,853,965 (GRCm39)	V245A	probably damaging	Het
Or6k14	G	A	1: 173,927,965 (GRCm39)	G314R	probably benign	Het
Otud4	T	A	8: 80,396,626 (GRCm39)	H628Q	probably benign	Het
Padi6	T	C	4: 140,456,240 (GRCm39)	T585A	probably benign	Het
Pex16	G	T	2: 92,205,937 (GRCm39)	R10L	probably damaging	Het
Pitpnm2	A	G	5: 124,269,152 (GRCm39)		probably benign	Het
Pom121l2	A	G	13: 22,167,375 (GRCm39)	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,613,759 (GRCm39)	M470K	probably benign	Het
Prkag2	T	A	5: 25,233,503 (GRCm39)	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,383,447 (GRCm39)	M38V	probably benign	Het
Prpf18	T	A	2: 4,648,572 (GRCm39)	I85F	possibly damaging	Het
Psg27	A	G	7: 18,294,636 (GRCm39)		probably benign	Het
Relt	A	G	7: 100,497,991 (GRCm39)		probably benign	Het
Rskr	T	C	11: 78,182,362 (GRCm39)	L57P	probably benign	Het
Serpina3b	A	T	12: 104,096,929 (GRCm39)	N70I	probably damaging	Het
Slc19a3	T	C	1: 83,000,286 (GRCm39)	S244G	probably benign	Het
Slc39a5	T	C	10: 128,235,716 (GRCm39)	T81A	possibly damaging	Het
Slc7a2	G	A	8: 41,357,563 (GRCm39)	G277D	probably damaging	Het
Slc9c1	C	T	16: 45,420,250 (GRCm39)		probably benign	Het
Slx1b	A	G	7: 126,291,753 (GRCm39)	F104L	probably benign	Het
Smg6	G	A	11: 74,820,527 (GRCm39)	S266N	probably damaging	Het
Spata9	T	C	13: 76,146,614 (GRCm39)	V162A	possibly damaging	Het
Szrd1	T	C	4: 140,846,055 (GRCm39)	I47V	probably benign	Het
Tha1	G	T	11: 117,759,401 (GRCm39)	L363M	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Tmem132d	C	T	5: 127,866,849 (GRCm39)	G684R	probably damaging	Het
Trim55	G	A	3: 19,725,142 (GRCm39)	G220S	probably benign	Het
Ttn	A	G	2: 76,600,874 (GRCm39)	L18836P	probably damaging	Het
Ubn1	G	T	16: 4,890,048 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,643,228 (GRCm39)	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,286,231 (GRCm39)	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,990,526 (GRCm39)	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,282,412 (GRCm39)	C735S	probably damaging	Het
Vwf	A	T	6: 125,543,281 (GRCm39)	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910 (GRCm39)	N16S	probably damaging	Het
Zfp444	C	T	7: 6,192,408 (GRCm39)	T142I	probably benign	Het
Zfp804a	A	G	2: 81,884,135 (GRCm39)	M1V	probably null	Het
Zfp936	T	G	7: 42,838,734 (GRCm39)	I67S	probably benign	Het
Zfp948	A	T	17: 21,807,260 (GRCm39)	N151Y	unknown	Het

Other mutations in Mybbp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Mybbp1a	APN	11	72,334,393 (GRCm39)	missense	probably damaging	1.00
IGL03240:Mybbp1a	APN	11	72,336,492 (GRCm39)	missense	possibly damaging	0.95
IGL03271:Mybbp1a	APN	11	72,334,744 (GRCm39)	splice site	probably benign
IGL03344:Mybbp1a	APN	11	72,336,028 (GRCm39)	missense	probably damaging	1.00
fratelli	UTSW	11	72,336,538 (GRCm39)	missense	probably benign	0.02
primi	UTSW	11	72,333,727 (GRCm39)	splice site	probably null
sorelli	UTSW	11	72,338,585 (GRCm39)	missense	possibly damaging	0.94
R0276:Mybbp1a	UTSW	11	72,340,933 (GRCm39)	splice site	probably null
R0551:Mybbp1a	UTSW	11	72,339,202 (GRCm39)	missense	probably benign	0.06
R1394:Mybbp1a	UTSW	11	72,334,474 (GRCm39)	missense	probably damaging	1.00
R1667:Mybbp1a	UTSW	11	72,336,043 (GRCm39)	missense	probably benign	0.00
R1888:Mybbp1a	UTSW	11	72,336,863 (GRCm39)	missense	probably benign	0.18
R1888:Mybbp1a	UTSW	11	72,336,863 (GRCm39)	missense	probably benign	0.18
R1891:Mybbp1a	UTSW	11	72,336,863 (GRCm39)	missense	probably benign	0.18
R1894:Mybbp1a	UTSW	11	72,336,863 (GRCm39)	missense	probably benign	0.18
R2074:Mybbp1a	UTSW	11	72,332,271 (GRCm39)	missense	probably benign	0.01
R2257:Mybbp1a	UTSW	11	72,337,021 (GRCm39)	missense	probably benign	0.10
R3739:Mybbp1a	UTSW	11	72,339,563 (GRCm39)	missense	possibly damaging	0.77
R3983:Mybbp1a	UTSW	11	72,337,996 (GRCm39)	missense	probably damaging	1.00
R4191:Mybbp1a	UTSW	11	72,342,113 (GRCm39)	missense	probably damaging	0.97
R4660:Mybbp1a	UTSW	11	72,336,538 (GRCm39)	missense	probably benign	0.02
R4667:Mybbp1a	UTSW	11	72,338,797 (GRCm39)	missense	possibly damaging	0.94
R4769:Mybbp1a	UTSW	11	72,336,466 (GRCm39)	missense	probably damaging	1.00
R4982:Mybbp1a	UTSW	11	72,336,040 (GRCm39)	missense	probably damaging	0.99
R5451:Mybbp1a	UTSW	11	72,338,939 (GRCm39)	missense	probably damaging	0.99
R5514:Mybbp1a	UTSW	11	72,341,462 (GRCm39)	missense	possibly damaging	0.61
R5548:Mybbp1a	UTSW	11	72,336,998 (GRCm39)	missense	probably damaging	1.00
R5673:Mybbp1a	UTSW	11	72,335,751 (GRCm39)	missense	probably benign	0.30
R5947:Mybbp1a	UTSW	11	72,333,257 (GRCm39)	missense	probably damaging	1.00
R6161:Mybbp1a	UTSW	11	72,336,838 (GRCm39)	missense	probably damaging	1.00
R6785:Mybbp1a	UTSW	11	72,338,392 (GRCm39)	missense	probably benign	0.00
R7154:Mybbp1a	UTSW	11	72,338,468 (GRCm39)	splice site	probably null
R7227:Mybbp1a	UTSW	11	72,338,585 (GRCm39)	missense	possibly damaging	0.94
R7238:Mybbp1a	UTSW	11	72,334,338 (GRCm39)	missense	probably damaging	1.00
R7441:Mybbp1a	UTSW	11	72,342,101 (GRCm39)	missense	probably benign	0.01
R7833:Mybbp1a	UTSW	11	72,333,727 (GRCm39)	splice site	probably null
R8213:Mybbp1a	UTSW	11	72,335,547 (GRCm39)	missense	probably damaging	1.00
R8324:Mybbp1a	UTSW	11	72,336,114 (GRCm39)	critical splice donor site	probably null
R8474:Mybbp1a	UTSW	11	72,338,563 (GRCm39)	missense	probably benign	0.01
R8972:Mybbp1a	UTSW	11	72,337,076 (GRCm39)	missense	probably benign	0.35
R9018:Mybbp1a	UTSW	11	72,334,420 (GRCm39)	missense	probably benign	0.09
R9380:Mybbp1a	UTSW	11	72,333,668 (GRCm39)	missense	probably benign	0.24
R9505:Mybbp1a	UTSW	11	72,339,897 (GRCm39)	missense	probably benign	0.26
X0050:Mybbp1a	UTSW	11	72,332,503 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTACAGAGGCCAGAAGCCACTGTC -3'
(R):5'- CGGGTCACAAAGTCCAAGTCTAAGC -3'

Sequencing Primer
(F):5'- CCTAACTTAGCAACGTGACTTGG -3'
(R):5'- TCTAAGCAGTTAGCAGCCTG -3'

Posted On

2013-05-23