Mutagenetix > Incidental Mutation

Incidental Mutation 'R9018:Mybbp1a'

686156

Institutional Source

Beutler Lab

Gene Symbol

Mybbp1a

Ensembl Gene

ENSMUSG00000040463

Gene Name

MYB binding protein (P160) 1a

Synonyms

p67MBP, p160MBP

MMRRC Submission

068848-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72332181-72342594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72334420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 225 (T225I)

Ref Sequence

ENSEMBL: ENSMUSP00000044827 (fasta)

Gene Model

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

AlphaFold

Q7TPV4

Predicted Effect

probably benign
Transcript: ENSMUST00000045633
AA Change: T225I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: T225I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,918,532 (GRCm39)	E1552G	probably damaging	Het
Abca14	A	T	7: 119,888,763 (GRCm39)	K1236N	probably benign	Het
Adam3	A	T	8: 25,184,292 (GRCm39)	Y569*	probably null	Het
Adgrb2	A	G	4: 129,907,659 (GRCm39)	T998A	probably benign	Het
Adgre4	T	A	17: 56,098,993 (GRCm39)	H166Q	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Ankrd11	A	G	8: 123,622,251 (GRCm39)	S534P	probably damaging	Het
Atn1	C	T	6: 124,722,661 (GRCm39)	E805K	unknown	Het
Bsn	T	C	9: 107,994,488 (GRCm39)	T596A	probably benign	Het
Cacnb4	C	T	2: 52,324,706 (GRCm39)	R452Q	probably benign	Het
Cdc123	C	A	2: 5,849,683 (GRCm39)	A13S	probably benign	Het
Chd7	G	A	4: 8,847,083 (GRCm39)	G1609S	possibly damaging	Het
Cp	T	A	3: 20,043,316 (GRCm39)	C1035S	probably damaging	Het
Dcaf1	T	A	9: 106,742,836 (GRCm39)	C1383S	probably damaging	Het
Derl3	G	A	10: 75,729,604 (GRCm39)	V54I	probably benign	Het
Dgcr6	T	C	16: 17,884,607 (GRCm39)	L25P	probably damaging	Het
Dmrt2	A	G	19: 25,650,985 (GRCm39)	E57G	probably benign	Het
Dnaaf11	A	T	15: 66,321,479 (GRCm39)	S221T	probably benign	Het
Dst	A	G	1: 34,235,140 (GRCm39)	K3562E	probably damaging	Het
Dyrk2	T	C	10: 118,696,014 (GRCm39)	T415A	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbln1	T	C	15: 85,126,215 (GRCm39)	I484T	probably damaging	Het
Greb1l	T	A	18: 10,542,004 (GRCm39)	D1250E	possibly damaging	Het
Ift88	A	C	14: 57,675,702 (GRCm39)	K72Q	probably benign	Het
Impg1	T	A	9: 80,301,474 (GRCm39)	I228F	probably benign	Het
Itsn2	A	G	12: 4,708,091 (GRCm39)	N799S	possibly damaging	Het
Jade1	T	A	3: 41,564,292 (GRCm39)	C521S	probably benign	Het
Katna1	T	G	10: 7,637,040 (GRCm39)	L397R	probably damaging	Het
Kcnj15	A	C	16: 95,097,129 (GRCm39)	K250N	probably damaging	Het
Macc1	A	G	12: 119,409,941 (GRCm39)	I236M	possibly damaging	Het
Mapk13	C	T	17: 28,996,760 (GRCm39)	R276C	probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mindy4	C	T	6: 55,278,072 (GRCm39)	H639Y	possibly damaging	Het
Mphosph9	A	G	5: 124,436,713 (GRCm39)	S544P	probably benign	Het
Muc4	T	C	16: 32,582,910 (GRCm39)	Y492H		Het
Myo6	A	T	9: 80,159,086 (GRCm39)	K285I	unknown	Het
Nmd3	G	A	3: 69,647,328 (GRCm39)	V277I	probably benign	Het
Nol9	G	C	4: 152,123,918 (GRCm39)	R36P	probably damaging	Het
Nom1	A	G	5: 29,639,712 (GRCm39)	R13G	possibly damaging	Het
Nudt14	G	A	12: 112,902,906 (GRCm39)	H40Y	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or5b118	A	T	19: 13,448,721 (GRCm39)	H87L	possibly damaging	Het
Or8d1b	T	A	9: 38,887,687 (GRCm39)	F238L	probably benign	Het
Pcnx4	T	A	12: 72,603,437 (GRCm39)	F492I	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pgghg	A	G	7: 140,524,579 (GRCm39)	I309V	probably benign	Het
Phf12	C	T	11: 77,914,510 (GRCm39)	P651S	possibly damaging	Het
Pltp	A	G	2: 164,694,410 (GRCm39)	L199P	probably damaging	Het
Pole	T	A	5: 110,437,675 (GRCm39)	L78I	probably benign	Het
Ppm1d	C	A	11: 85,227,961 (GRCm39)	H292Q	probably damaging	Het
Ppp2cb	A	C	8: 34,105,787 (GRCm39)	I224L	probably benign	Het
Rabggta	A	T	14: 55,957,880 (GRCm39)	I171N	probably damaging	Het
Rapgef5	A	G	12: 117,712,132 (GRCm39)	I740V	probably damaging	Het
Rb1cc1	G	A	1: 6,319,490 (GRCm39)	E970K	probably benign	Het
Rnh1	A	T	7: 140,748,544 (GRCm39)	V11D	probably benign	Het
Robo4	C	T	9: 37,315,520 (GRCm39)	T288I	probably benign	Het
Scmh1	A	G	4: 120,362,514 (GRCm39)	D250G	probably benign	Het
Sele	T	A	1: 163,881,248 (GRCm39)	C483S	probably damaging	Het
Slc12a6	A	G	2: 112,174,585 (GRCm39)		probably benign	Het
Slc5a4a	A	G	10: 76,002,546 (GRCm39)	E234G	possibly damaging	Het
Smarca5	A	G	8: 81,431,355 (GRCm39)	L954P	probably damaging	Het
St7	T	A	6: 17,906,494 (GRCm39)	N413K	probably damaging	Het
Stam2	C	T	2: 52,606,463 (GRCm39)	V141I	probably benign	Het
Stim1	C	T	7: 102,060,482 (GRCm39)	T175I	probably benign	Het
Strap	A	G	6: 137,716,811 (GRCm39)	N130S	probably benign	Het
Stxbp2	A	G	8: 3,692,627 (GRCm39)		probably benign	Het
Sult3a2	T	A	10: 33,655,689 (GRCm39)	I97F	probably benign	Het
Tbc1d32	A	T	10: 55,948,693 (GRCm39)	N965K	probably benign	Het
Tle3	T	A	9: 61,319,750 (GRCm39)	I506N	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tvp23a	A	G	16: 10,264,846 (GRCm39)	S22P	probably damaging	Het
Vmn2r82	A	G	10: 79,232,539 (GRCm39)	N846S	probably damaging	Het
Vmn2r83	A	G	10: 79,316,020 (GRCm39)	N472S	probably damaging	Het
Xpo7	G	A	14: 70,944,864 (GRCm39)	Q10*	probably null	Het
Zfp423	G	C	8: 88,508,381 (GRCm39)	S654R	probably benign	Het
Zfp646	A	T	7: 127,478,243 (GRCm39)	H140L	probably benign	Het
Zfp719	C	A	7: 43,233,489 (GRCm39)		probably benign	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
R0437:Mybbp1a	UTSW	11	72,339,674 (GRCm39)	missense	possibly damaging	0.75
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
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'- TGTATCCGAAGCCCATGGGTAG -3'
(R):5'- CAGGTCCAGAGCCACATTAG -3'

Sequencing Primer
(F):5'- GCCCATGGGTAGAACAAGACC -3'
(R):5'- CTCCTTCTTGACAGAGTTGGCG -3'

Posted On

2021-10-11