Mutagenetix > Incidental Mutations

Incidental Mutation 'R0481:Bcl9l'

43376

Institutional Source

Beutler Lab

Gene Symbol

Bcl9l

Ensembl Gene

ENSMUSG00000063382

Gene Name

B cell CLL/lymphoma 9-like

Synonyms

DLNB11

MMRRC Submission

038681-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44482825-44511896 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44506682 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 606 (I606V)

Ref Sequence

ENSEMBL: ENSMUSP00000151342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074989] [ENSMUST00000218183] [ENSMUST00000220303]

Predicted Effect

probably benign
Transcript: ENSMUST00000074989
AA Change: I643V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: I643V

Domain	Start	End	E-Value	Type
low complexity region	215	234	N/A	INTRINSIC
PDB:2XB1\|C	236	269	2e-14	PDB
low complexity region	278	292	N/A	INTRINSIC
low complexity region	297	325	N/A	INTRINSIC
low complexity region	337	376	N/A	INTRINSIC
Pfam:BCL9	395	432	2.4e-18	PFAM
low complexity region	490	507	N/A	INTRINSIC
low complexity region	521	534	N/A	INTRINSIC
low complexity region	546	560	N/A	INTRINSIC
low complexity region	590	602	N/A	INTRINSIC
low complexity region	766	783	N/A	INTRINSIC
low complexity region	835	852	N/A	INTRINSIC
low complexity region	1042	1059	N/A	INTRINSIC
low complexity region	1114	1127	N/A	INTRINSIC
low complexity region	1167	1178	N/A	INTRINSIC
low complexity region	1232	1245	N/A	INTRINSIC
low complexity region	1262	1273	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218183
AA Change: I643V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000220303
AA Change: I606V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

95% (89/94)

MGI Phenotype

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932429P05Rik	T	C	X: 89,752,693	S44P	probably damaging	Het
9530053A07Rik	A	T	7: 28,153,749	D1487V	probably damaging	Het
Abcg4	T	A	9: 44,279,369	N39Y	probably benign	Het
Adamts10	C	T	17: 33,549,373	Q840*	probably null	Het
Aff2	C	T	X: 69,834,642	T678I	probably damaging	Het
Ahctf1	A	G	1: 179,760,271	V1418A	probably benign	Het
Ankrd11	G	A	8: 122,900,036	R136C	probably damaging	Het
Arf5	A	G	6: 28,426,076	Y154C	probably damaging	Het
AW551984	A	G	9: 39,600,616	V33A	probably null	Het
B4galt5	A	G	2: 167,309,234	L118P	probably damaging	Het
Bdp1	A	G	13: 100,041,454	I1969T	probably benign	Het
Bicd1	A	T	6: 149,511,891	D260V	possibly damaging	Het
Cap1	A	T	4: 122,863,075	H272Q	possibly damaging	Het
Ccnk	A	G	12: 108,199,309		probably benign	Het
Cd209f	A	T	8: 4,105,558		probably null	Het
Cdk13	C	A	13: 17,719,494	A1123S	probably damaging	Het
Cdx1	C	T	18: 61,020,492	R158H	probably damaging	Het
Chd8	A	G	14: 52,237,206	S123P	probably benign	Het
Cwc22	G	A	2: 77,908,111	A497V	probably damaging	Het
Cwh43	T	C	5: 73,418,027	S296P	probably damaging	Het
Dhx38	A	T	8: 109,556,216		probably benign	Het
Dnah5	T	A	15: 28,383,599	M2989K	probably benign	Het
Dpy19l4	A	C	4: 11,272,993		probably benign	Het
F11r	A	T	1: 171,461,279	H155L	probably benign	Het
Fitm2	A	G	2: 163,469,714	V193A	probably benign	Het
Foxk1	T	A	5: 142,448,823	S281T	probably benign	Het
Furin	A	G	7: 80,393,549	C305R	probably damaging	Het
Fut8	T	A	12: 77,448,560	V308D	probably damaging	Het
Gjb3	T	A	4: 127,326,332	I136F	probably benign	Het
Glmn	A	T	5: 107,560,934	S385T	probably benign	Het
Glp1r	T	A	17: 30,931,217	M371K	probably benign	Het
Gm906	T	A	13: 50,246,964	Q442L	probably benign	Het
Gpr179	T	C	11: 97,349,718	H293R	probably damaging	Het
H2-M11	A	T	17: 36,548,954	R280*	probably null	Het
Hadhb	T	A	5: 30,168,545	H78Q	probably damaging	Het
Hectd4	A	G	5: 121,295,506		probably benign	Het
Hexa	A	G	9: 59,555,410		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Hyal6	G	A	6: 24,743,418	C371Y	probably damaging	Het
Il1rap	T	C	16: 26,692,835	Y210H	probably damaging	Het
Ino80	A	T	2: 119,431,016	H722Q	probably damaging	Het
Kcnt1	A	G	2: 25,892,496	N200S	probably damaging	Het
Kif27	T	A	13: 58,311,264		probably benign	Het
Lyst	T	C	13: 13,677,952	V2179A	probably benign	Het
Macf1	C	A	4: 123,484,022		probably null	Het
Mamdc4	A	G	2: 25,571,216	M1T	probably null	Het
Mansc4	A	G	6: 147,075,227	I297T	possibly damaging	Het
Mdn1	G	A	4: 32,767,182		probably benign	Het
Mib2	A	G	4: 155,656,062		probably benign	Het
Mon2	A	G	10: 123,013,396	V1333A	possibly damaging	Het
Ndst2	T	C	14: 20,724,468	D840G	possibly damaging	Het
Nell2	A	T	15: 95,432,682		probably null	Het
Olfr1189	A	T	2: 88,592,655	I284F	probably damaging	Het
Olfr1301	T	A	2: 111,754,585	M112K	probably damaging	Het
Olfr998	C	A	2: 85,591,104	A188E	possibly damaging	Het
Pde5a	C	T	3: 122,818,077		probably benign	Het
Phip	A	G	9: 82,876,716		probably benign	Het
Polr2b	A	G	5: 77,332,082	I561V	possibly damaging	Het
Prkg2	A	T	5: 98,994,655		probably null	Het
Prl8a6	T	C	13: 27,433,101	D201G	probably benign	Het
Ptk6	G	A	2: 181,202,527		probably benign	Het
Ptprn2	T	C	12: 117,211,846		probably benign	Het
Rdh1	G	T	10: 127,763,124	R158L	probably damaging	Het
Rhbdl3	T	C	11: 80,323,349		probably benign	Het
Rims4	A	T	2: 163,864,120	V198E	probably damaging	Het
Ripk1	T	C	13: 34,009,750	S32P	probably damaging	Het
Rnf13	T	A	3: 57,779,451	N88K	probably damaging	Het
Rnf13	C	A	3: 57,807,053	L178I	probably damaging	Het
Slc17a5	G	T	9: 78,538,302		probably null	Het
Sorcs1	A	G	19: 50,636,453		probably benign	Het
Srpk1	G	A	17: 28,590,244		probably benign	Het
Stk10	A	G	11: 32,614,708	K840E	probably damaging	Het
Suco	A	G	1: 161,862,313		probably benign	Het
T2	G	A	17: 8,417,175		probably null	Het
Tbc1d5	A	G	17: 50,919,051	S255P	probably damaging	Het
Tenm1	T	C	X: 42,536,181	Y2254C	probably damaging	Het
Tex9	T	A	9: 72,478,396	K11*	probably null	Het
Tlr4	A	G	4: 66,827,916	I29V	probably benign	Het
Tmem255a	A	T	X: 38,199,646	V278D	probably damaging	Het
Trpc3	T	C	3: 36,624,417	I840V	probably benign	Het
Trpm3	G	A	19: 22,901,071	R622Q	possibly damaging	Het
Vmn1r214	T	A	13: 23,035,294	Y319*	probably null	Het
Vmn1r53	A	T	6: 90,223,718	V208E	probably damaging	Het
Vmn2r89	T	C	14: 51,456,120	F309S	probably damaging	Het
Xirp2	T	A	2: 67,509,909	F831L	possibly damaging	Het
Yes1	G	T	5: 32,640,405	E23*	probably null	Het
Zfp292	A	T	4: 34,810,059	M995K	probably benign	Het

Other mutations in Bcl9l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Bcl9l	APN	9	44505627	missense	possibly damaging	0.86
IGL00969:Bcl9l	APN	9	44508242	missense	possibly damaging	0.79
IGL01011:Bcl9l	APN	9	44505179	missense	possibly damaging	0.85
IGL01396:Bcl9l	APN	9	44506824	missense	probably damaging	0.99
IGL02015:Bcl9l	APN	9	44508801	splice site	probably null
IGL02106:Bcl9l	APN	9	44509199	missense	probably benign	0.03
IGL02310:Bcl9l	APN	9	44509305	missense	probably damaging	1.00
IGL02447:Bcl9l	APN	9	44507334	missense	probably benign	0.09
IGL02534:Bcl9l	APN	9	44505739	missense	probably benign	0.00
IGL02541:Bcl9l	APN	9	44507769	missense	probably benign	0.02
IGL02688:Bcl9l	APN	9	44505263	missense	possibly damaging	0.86
IGL02931:Bcl9l	APN	9	44500750	missense	probably damaging	0.96
R0098:Bcl9l	UTSW	9	44505617	missense	probably benign
R0142:Bcl9l	UTSW	9	44507112	missense	probably benign	0.09
R0193:Bcl9l	UTSW	9	44507406	missense	probably damaging	1.00
R0227:Bcl9l	UTSW	9	44505236	missense	possibly damaging	0.96
R0496:Bcl9l	UTSW	9	44509518	missense	probably benign	0.00
R1741:Bcl9l	UTSW	9	44509689	missense	probably damaging	0.99
R1971:Bcl9l	UTSW	9	44508699	splice site	probably null
R1976:Bcl9l	UTSW	9	44506152	missense	possibly damaging	0.76
R4415:Bcl9l	UTSW	9	44501879	missense	possibly damaging	0.83
R4751:Bcl9l	UTSW	9	44506803	missense	probably damaging	0.99
R4810:Bcl9l	UTSW	9	44508353	missense	probably damaging	1.00
R4880:Bcl9l	UTSW	9	44508710	missense	probably benign	0.01
R4967:Bcl9l	UTSW	9	44505068	missense	possibly damaging	0.85
R5418:Bcl9l	UTSW	9	44505436	missense	possibly damaging	0.53
R5572:Bcl9l	UTSW	9	44500798	missense	possibly damaging	0.66
R5658:Bcl9l	UTSW	9	44509169	missense	probably damaging	1.00
R5812:Bcl9l	UTSW	9	44506644	missense	probably benign	0.01
R6515:Bcl9l	UTSW	9	44507874	splice site	probably null
R6670:Bcl9l	UTSW	9	44507072	small insertion	probably benign
R6682:Bcl9l	UTSW	9	44501103	missense	possibly damaging	0.91
R6966:Bcl9l	UTSW	9	44509388	nonsense	probably null
R7171:Bcl9l	UTSW	9	44505151	missense	probably benign	0.33
R7338:Bcl9l	UTSW	9	44508708	missense	probably benign
R7448:Bcl9l	UTSW	9	44509337	missense	probably benign	0.00
R7609:Bcl9l	UTSW	9	44505747	missense	probably damaging	0.99
R7793:Bcl9l	UTSW	9	44508966	missense	probably benign	0.00
R7793:Bcl9l	UTSW	9	44509697	missense	probably damaging	0.97
R8372:Bcl9l	UTSW	9	44507231	missense	probably benign
R8491:Bcl9l	UTSW	9	44500768	missense	probably benign	0.02
R8769:Bcl9l	UTSW	9	44508966	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATGTCCAAGATCCCATGCAGCTCC -3'
(R):5'- GGCGTCATCTGCACATTCAGGTTC -3'

Sequencing Primer
(F):5'- CATGCAGCTCCGACCTG -3'
(R):5'- catgttcatgttcatgttcacattc -3'

Posted On

2013-05-23