Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Bcl9'

215337

Institutional Source

Beutler Lab

Gene Symbol

Bcl9

Ensembl Gene

ENSMUSG00000038256

Gene Name

B cell CLL/lymphoma 9

Synonyms

2610202E01Rik, A330041G23Rik, 8030475K17Rik

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R1931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97110978-97205233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97112460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1332 (M1332V)

Ref Sequence

ENSEMBL: ENSMUSP00000131692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046521] [ENSMUST00000166341]

AlphaFold

Q9D219

Predicted Effect

probably damaging
Transcript: ENSMUST00000046521
AA Change: M1332V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046152
Gene: ENSMUSG00000038256
AA Change: M1332V

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	86	98	N/A	INTRINSIC
low complexity region	144	157	N/A	INTRINSIC
PDB:2VP7\|B	174	205	4e-13	PDB
low complexity region	229	247	N/A	INTRINSIC
low complexity region	255	273	N/A	INTRINSIC
low complexity region	321	342	N/A	INTRINSIC
Pfam:BCL9	350	389	3.1e-24	PFAM
low complexity region	481	494	N/A	INTRINSIC
low complexity region	506	517	N/A	INTRINSIC
low complexity region	817	835	N/A	INTRINSIC
low complexity region	891	902	N/A	INTRINSIC
low complexity region	985	1001	N/A	INTRINSIC
low complexity region	1032	1044	N/A	INTRINSIC
low complexity region	1135	1153	N/A	INTRINSIC
low complexity region	1156	1177	N/A	INTRINSIC
low complexity region	1257	1268	N/A	INTRINSIC
low complexity region	1281	1299	N/A	INTRINSIC
low complexity region	1371	1391	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166341
AA Change: M1332V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131692
Gene: ENSMUSG00000038256
AA Change: M1332V

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	86	98	N/A	INTRINSIC
low complexity region	144	157	N/A	INTRINSIC
PDB:2VP7\|B	174	205	4e-13	PDB
low complexity region	229	247	N/A	INTRINSIC
low complexity region	255	273	N/A	INTRINSIC
low complexity region	321	342	N/A	INTRINSIC
Pfam:BCL9	350	388	5.2e-22	PFAM
low complexity region	481	494	N/A	INTRINSIC
low complexity region	506	517	N/A	INTRINSIC
low complexity region	817	835	N/A	INTRINSIC
low complexity region	891	902	N/A	INTRINSIC
low complexity region	985	1001	N/A	INTRINSIC
low complexity region	1032	1044	N/A	INTRINSIC
low complexity region	1135	1153	N/A	INTRINSIC
low complexity region	1156	1177	N/A	INTRINSIC
low complexity region	1257	1268	N/A	INTRINSIC
low complexity region	1281	1299	N/A	INTRINSIC
low complexity region	1371	1391	N/A	INTRINSIC

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice carrying homozygous floxed Bcl9 and Bcl9l alleles, inactivated in muscle cells, exhibit impaired muscle regeneration due to increased apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	G	6: 86,933,318 (GRCm39)	S430A	unknown	Het
Abhd16a	T	A	17: 35,319,991 (GRCm39)	F337L	probably benign	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,685 (GRCm39)	Q647K	probably benign	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,260,648 (GRCm39)	E961G	possibly damaging	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Birc6	T	C	17: 74,872,977 (GRCm39)	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Coro2a	A	T	4: 46,539,138 (GRCm39)	*544R	probably null	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,040,568 (GRCm39)	N278D	probably benign	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Dpp3	A	T	19: 4,967,888 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,797,881 (GRCm39)	R433H	possibly damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Eif4b	T	C	15: 101,997,411 (GRCm39)	S309P	unknown	Het
Eml3	G	A	19: 8,914,507 (GRCm39)	V507M	probably benign	Het
Ezhip	T	C	X: 5,994,817 (GRCm39)	E66G	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Fsip2	T	A	2: 82,817,077 (GRCm39)	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Gfm1	A	G	3: 67,363,918 (GRCm39)	K465E	probably benign	Het
Gpld1	A	T	13: 25,127,693 (GRCm39)	I32L	possibly damaging	Het
H4c12	A	T	13: 21,934,682 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,857 (GRCm39)	T143A	probably benign	Het
Hoxd12	A	G	2: 74,505,875 (GRCm39)	T149A	probably benign	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,677,756 (GRCm39)	N287I	probably damaging	Het
Itga4	G	A	2: 79,144,188 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,141,852 (GRCm39)	V1730A	probably benign	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Lcn10	A	G	2: 25,574,347 (GRCm39)	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nckap5l	A	G	15: 99,325,142 (GRCm39)	F454L	probably damaging	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Olfm1	G	A	2: 28,112,674 (GRCm39)		probably null	Het
Or2at4	G	T	7: 99,385,067 (GRCm39)	R239L	possibly damaging	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Or7g30	T	C	9: 19,352,647 (GRCm39)	L146P	possibly damaging	Het
Osbp2	T	C	11: 3,676,333 (GRCm39)		probably null	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Papss2	T	A	19: 32,616,368 (GRCm39)	C191*	probably null	Het
Pbxip1	A	T	3: 89,354,984 (GRCm39)		probably null	Het
Pdp1	A	G	4: 11,962,074 (GRCm39)	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612 (GRCm39)	T452A	probably benign	Het
Polr2a	A	T	11: 69,626,201 (GRCm39)	Y1612N	unknown	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Prr11	A	T	11: 86,996,868 (GRCm39)	L32*	probably null	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rps6kb1	A	G	11: 86,423,647 (GRCm39)	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,247,952 (GRCm39)	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
St8sia6	A	G	2: 13,797,623 (GRCm39)	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698 (GRCm39)	R470*	probably null	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Trim41	A	G	11: 48,698,319 (GRCm39)	V549A	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Unc5b	T	C	10: 60,608,348 (GRCm39)	T621A	probably benign	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Vmn1r214	C	A	13: 23,219,494 (GRCm39)	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,072 (GRCm39)	K428*	probably null	Het
Vmn2r81	A	C	10: 79,129,328 (GRCm39)	I740L	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp735	A	T	11: 73,602,677 (GRCm39)	K540N	possibly damaging	Het

Other mutations in Bcl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Bcl9	APN	3	97,114,518 (GRCm39)	missense	probably damaging	1.00
IGL00817:Bcl9	APN	3	97,112,460 (GRCm39)	missense	probably damaging	0.97
IGL01609:Bcl9	APN	3	97,116,291 (GRCm39)	missense	probably benign	0.23
IGL02245:Bcl9	APN	3	97,116,009 (GRCm39)	missense	probably damaging	1.00
IGL02385:Bcl9	APN	3	97,116,594 (GRCm39)	missense	probably benign	0.01
IGL02534:Bcl9	APN	3	97,122,545 (GRCm39)	missense	probably damaging	1.00
IGL02663:Bcl9	APN	3	97,112,648 (GRCm39)	missense	probably damaging	1.00
IGL02705:Bcl9	APN	3	97,112,181 (GRCm39)	missense	possibly damaging	0.94
IGL02884:Bcl9	APN	3	97,117,368 (GRCm39)	missense	probably damaging	1.00
IGL03345:Bcl9	APN	3	97,116,508 (GRCm39)	missense	probably benign
R0312:Bcl9	UTSW	3	97,116,727 (GRCm39)	missense	probably benign	0.27
R0602:Bcl9	UTSW	3	97,113,102 (GRCm39)	missense	probably benign	0.00
R0627:Bcl9	UTSW	3	97,112,789 (GRCm39)	missense	probably damaging	1.00
R0644:Bcl9	UTSW	3	97,117,813 (GRCm39)	missense	probably benign
R1342:Bcl9	UTSW	3	97,113,042 (GRCm39)	missense	possibly damaging	0.93
R1836:Bcl9	UTSW	3	97,113,186 (GRCm39)	missense	probably damaging	0.97
R1886:Bcl9	UTSW	3	97,122,713 (GRCm39)	missense	probably benign	0.04
R1972:Bcl9	UTSW	3	97,114,518 (GRCm39)	missense	probably damaging	1.00
R1984:Bcl9	UTSW	3	97,121,050 (GRCm39)	missense	probably damaging	0.98
R2119:Bcl9	UTSW	3	97,116,231 (GRCm39)	missense	probably benign	0.04
R2924:Bcl9	UTSW	3	97,117,069 (GRCm39)	missense	probably benign	0.00
R3081:Bcl9	UTSW	3	97,112,989 (GRCm39)	missense	possibly damaging	0.82
R3851:Bcl9	UTSW	3	97,116,969 (GRCm39)	missense	probably damaging	0.99
R4182:Bcl9	UTSW	3	97,120,999 (GRCm39)	critical splice donor site	probably null
R4196:Bcl9	UTSW	3	97,123,684 (GRCm39)	utr 5 prime	probably benign
R4209:Bcl9	UTSW	3	97,117,269 (GRCm39)	missense	probably damaging	1.00
R5082:Bcl9	UTSW	3	97,117,218 (GRCm39)	missense	probably damaging	0.97
R5440:Bcl9	UTSW	3	97,117,881 (GRCm39)	missense	probably benign
R5770:Bcl9	UTSW	3	97,122,491 (GRCm39)	missense	probably benign
R5863:Bcl9	UTSW	3	97,117,666 (GRCm39)	missense	probably benign
R5891:Bcl9	UTSW	3	97,116,204 (GRCm39)	missense	probably damaging	1.00
R6086:Bcl9	UTSW	3	97,112,840 (GRCm39)	missense	possibly damaging	0.73
R6305:Bcl9	UTSW	3	97,113,254 (GRCm39)	missense	possibly damaging	0.73
R6626:Bcl9	UTSW	3	97,122,712 (GRCm39)	missense	probably benign	0.00
R7198:Bcl9	UTSW	3	97,116,183 (GRCm39)	missense	probably damaging	0.99
R7198:Bcl9	UTSW	3	97,112,511 (GRCm39)	missense	possibly damaging	0.87
R7548:Bcl9	UTSW	3	97,113,209 (GRCm39)	missense	probably damaging	1.00
R7897:Bcl9	UTSW	3	97,112,567 (GRCm39)	missense	possibly damaging	0.92
R8299:Bcl9	UTSW	3	97,112,852 (GRCm39)	missense	probably damaging	0.97
R8332:Bcl9	UTSW	3	97,117,086 (GRCm39)	missense	possibly damaging	0.74
R8519:Bcl9	UTSW	3	97,116,334 (GRCm39)	missense	probably benign
R9057:Bcl9	UTSW	3	97,112,306 (GRCm39)	missense	possibly damaging	0.86
R9079:Bcl9	UTSW	3	97,112,816 (GRCm39)	missense	probably damaging	1.00
R9273:Bcl9	UTSW	3	97,115,959 (GRCm39)	missense	probably damaging	1.00
R9367:Bcl9	UTSW	3	97,117,861 (GRCm39)	missense	probably benign	0.22
R9399:Bcl9	UTSW	3	97,113,289 (GRCm39)	missense	probably benign	0.00
R9597:Bcl9	UTSW	3	97,117,323 (GRCm39)	missense	probably benign	0.01
R9643:Bcl9	UTSW	3	97,112,960 (GRCm39)	missense	possibly damaging	0.77
X0011:Bcl9	UTSW	3	97,113,290 (GRCm39)	missense	probably benign	0.05
Z1088:Bcl9	UTSW	3	97,117,957 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CTTGGCTAAACCCACCCATG -3'
(R):5'- ATGATGAGCGATCAAGCCCC -3'

Sequencing Primer
(F):5'- CCTCATTTGTGGGGGAATCATG -3'
(R):5'- CCAAGAATGGGGTTAGCATTACCTG -3'

Posted On

2014-07-14