Mutagenetix > Incidental Mutation

Incidental Mutation 'R4880:Bcl9l'

375224

Institutional Source

Beutler Lab

Gene Symbol

Bcl9l

Ensembl Gene

ENSMUSG00000063382

Gene Name

B cell CLL/lymphoma 9-like

Synonyms

DLNB11

MMRRC Submission

042489-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4880 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44394122-44423193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44420007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1101 (Q1101K)

Ref Sequence

ENSEMBL: ENSMUSP00000151342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062215] [ENSMUST00000074989] [ENSMUST00000179828] [ENSMUST00000215293] [ENSMUST00000218183] [ENSMUST00000220303]

AlphaFold

Q67FY2

Predicted Effect

probably benign
Transcript: ENSMUST00000062215

SMART Domains

Protein: ENSMUSP00000050444
Gene: ENSMUSG00000047880

Domain	Start	End	E-Value	Type
Pfam:7tm_1	70	324	8.9e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074989
AA Change: Q1138K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: Q1138K

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: ENSMUST00000179828

SMART Domains

Protein: ENSMUSP00000137518
Gene: ENSMUSG00000047880

Domain	Start	End	E-Value	Type
Pfam:7tm_1	70	324	1.7e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215293

Predicted Effect

probably benign
Transcript: ENSMUST00000218183
AA Change: Q1138K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000220303
AA Change: Q1101K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0728

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (89/91)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,276,529 (GRCm39)	I744T	possibly damaging	Het
Adgrb1	T	A	15: 74,458,871 (GRCm39)	F1324L	possibly damaging	Het
Adm	A	G	7: 110,228,326 (GRCm39)	H230R	probably benign	Het
Ank2	A	T	3: 126,840,475 (GRCm39)		probably null	Het
Arih1	A	T	9: 59,344,168 (GRCm39)	F156L	possibly damaging	Het
Atf6b	A	G	17: 34,873,529 (GRCm39)	H660R	probably damaging	Het
Ccdc174	G	A	6: 91,876,572 (GRCm39)		probably benign	Het
Ccdc65	A	C	15: 98,620,538 (GRCm39)		probably null	Het
Cela2a	T	C	4: 141,549,598 (GRCm39)	N59S	probably benign	Het
Cfap157	A	T	2: 32,668,261 (GRCm39)	V393E	probably damaging	Het
Chd1	T	C	17: 17,594,916 (GRCm39)	F17S	probably damaging	Het
Cpne3	T	C	4: 19,540,827 (GRCm39)	I183V	probably benign	Het
Cyp2d11	C	A	15: 82,276,306 (GRCm39)	V122L	probably benign	Het
Dcaf8	C	A	1: 172,015,056 (GRCm39)		probably benign	Het
Dchs1	T	A	7: 105,404,937 (GRCm39)	D2535V	probably benign	Het
Eif4a2	G	T	16: 22,927,650 (GRCm39)		probably benign	Het
Fzd4	T	A	7: 89,057,109 (GRCm39)	D385E	probably benign	Het
Galnt13	C	A	2: 54,950,584 (GRCm39)	Q422K	probably damaging	Het
Gnptab	C	T	10: 88,268,413 (GRCm39)	Q507*	probably null	Het
Hoxa7	A	G	6: 52,194,014 (GRCm39)		probably benign	Het
Htra1	T	A	7: 130,563,813 (GRCm39)	V228D	probably damaging	Het
Idi2l	A	T	13: 8,990,702 (GRCm39)		probably null	Het
Ifi203	T	A	1: 173,756,716 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,754,750 (GRCm39)	D340G	probably benign	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Itga2b	G	T	11: 102,348,548 (GRCm39)		probably benign	Het
Itgb1	G	T	8: 129,442,631 (GRCm39)	R272L	probably damaging	Het
Kif9	A	G	9: 110,330,703 (GRCm39)	E343G	probably damaging	Het
Klhl5	T	C	5: 65,316,244 (GRCm39)	V97A	probably damaging	Het
Lama5	C	A	2: 179,818,861 (GRCm39)		probably benign	Het
Lamb2	A	G	9: 108,361,226 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,660,931 (GRCm39)	Y59F	probably benign	Het
Mmrn1	A	G	6: 60,953,423 (GRCm39)	E568G	probably benign	Het
Mreg	A	G	1: 72,201,495 (GRCm39)	Y166H	probably damaging	Het
Myh7	C	A	14: 55,216,045 (GRCm39)	V1323F	probably benign	Het
Nr1i3	T	A	1: 171,043,951 (GRCm39)	I91K	probably damaging	Het
Nsfl1c	T	A	2: 151,348,230 (GRCm39)	D206E	probably damaging	Het
Or11g24	T	C	14: 50,662,758 (GRCm39)	Y261H	possibly damaging	Het
Or13c3	A	T	4: 52,856,411 (GRCm39)	M34K	probably damaging	Het
Or2ak5	G	A	11: 58,611,107 (GRCm39)	L256F	probably benign	Het
Or4k44	A	T	2: 111,367,698 (GRCm39)	L312*	probably null	Het
Or5k17	A	C	16: 58,746,463 (GRCm39)	L157W	probably damaging	Het
Or8b54	T	A	9: 38,686,843 (GRCm39)	C97*	probably null	Het
Pcdhb7	C	T	18: 37,475,284 (GRCm39)	T140I	probably benign	Het
Pcdhgb5	T	G	18: 37,865,641 (GRCm39)	S479A	probably benign	Het
Pcsk5	T	A	19: 17,425,054 (GRCm39)	Y1583F	probably damaging	Het
Pias1	T	C	9: 62,820,080 (GRCm39)	R296G	probably benign	Het
Plscr1l1	A	G	9: 92,236,665 (GRCm39)	E108G	probably damaging	Het
Polr1e	T	A	4: 45,022,280 (GRCm39)	C100S	probably damaging	Het
Rpap1	C	A	2: 119,614,346 (GRCm39)	R17L	probably damaging	Het
Rtn1	C	T	12: 72,264,232 (GRCm39)	V192I	possibly damaging	Het
Ryr2	G	A	13: 11,767,104 (GRCm39)	P1262L	probably damaging	Het
Slc4a7	G	T	14: 14,757,342 (GRCm38)	D396Y	probably damaging	Het
Slc5a8	T	C	10: 88,727,886 (GRCm39)	Y118H	probably damaging	Het
Slc7a6os	T	A	8: 106,937,247 (GRCm39)	Q71L	probably benign	Het
Sphkap	A	G	1: 83,266,538 (GRCm39)	V127A	probably damaging	Het
Srpk1	A	G	17: 28,810,199 (GRCm39)	S580P	probably damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	G	3: 93,351,130 (GRCm39)	D190G	possibly damaging	Het
Tenm4	T	A	7: 96,555,025 (GRCm39)		probably null	Het
Tex14	T	A	11: 87,377,121 (GRCm39)	I155N	possibly damaging	Het
Tm7sf3	A	T	6: 146,511,358 (GRCm39)	V377E	possibly damaging	Het
Tnfsf9	T	A	17: 57,412,433 (GRCm39)	M1K	probably null	Het
Tns2	C	T	15: 102,020,474 (GRCm39)	T780I	probably damaging	Het
Trdn	T	A	10: 33,347,575 (GRCm39)	D639E	probably benign	Het
Trmt10a	A	G	3: 137,857,972 (GRCm39)	E173G	possibly damaging	Het
Ttn	G	A	2: 76,649,119 (GRCm39)	P10984S	possibly damaging	Het
Tubb6	C	T	18: 67,534,386 (GRCm39)	T95M	possibly damaging	Het
Uroc1	G	T	6: 90,334,519 (GRCm39)	R577L	probably damaging	Het
Vmn2r86	T	A	10: 130,289,484 (GRCm39)	D137V	probably benign	Het
Xkr7	T	C	2: 152,896,873 (GRCm39)	Y576H	probably damaging	Het
Zfp410	A	G	12: 84,384,449 (GRCm39)	N355D	probably damaging	Het
Zfp59	C	A	7: 27,543,742 (GRCm39)	D22E	probably damaging	Het
Zfp64	C	T	2: 168,736,297 (GRCm39)	R460H	probably damaging	Het
Zfp655	T	C	5: 145,181,168 (GRCm39)	V342A	probably damaging	Het
Zfp990	G	A	4: 145,264,490 (GRCm39)	G496E	probably benign	Het

Other mutations in Bcl9l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Bcl9l	APN	9	44,416,924 (GRCm39)	missense	possibly damaging	0.86
IGL00969:Bcl9l	APN	9	44,419,539 (GRCm39)	missense	possibly damaging	0.79
IGL01011:Bcl9l	APN	9	44,416,476 (GRCm39)	missense	possibly damaging	0.85
IGL01396:Bcl9l	APN	9	44,418,121 (GRCm39)	missense	probably damaging	0.99
IGL02015:Bcl9l	APN	9	44,420,098 (GRCm39)	splice site	probably null
IGL02106:Bcl9l	APN	9	44,420,496 (GRCm39)	missense	probably benign	0.03
IGL02310:Bcl9l	APN	9	44,420,602 (GRCm39)	missense	probably damaging	1.00
IGL02447:Bcl9l	APN	9	44,418,631 (GRCm39)	missense	probably benign	0.09
IGL02534:Bcl9l	APN	9	44,417,036 (GRCm39)	missense	probably benign	0.00
IGL02541:Bcl9l	APN	9	44,419,066 (GRCm39)	missense	probably benign	0.02
IGL02688:Bcl9l	APN	9	44,416,560 (GRCm39)	missense	possibly damaging	0.86
IGL02931:Bcl9l	APN	9	44,412,047 (GRCm39)	missense	probably damaging	0.96
R0098:Bcl9l	UTSW	9	44,416,914 (GRCm39)	missense	probably benign
R0142:Bcl9l	UTSW	9	44,418,409 (GRCm39)	missense	probably benign	0.09
R0193:Bcl9l	UTSW	9	44,418,703 (GRCm39)	missense	probably damaging	1.00
R0227:Bcl9l	UTSW	9	44,416,533 (GRCm39)	missense	possibly damaging	0.96
R0481:Bcl9l	UTSW	9	44,417,979 (GRCm39)	missense	probably benign
R0496:Bcl9l	UTSW	9	44,420,815 (GRCm39)	missense	probably benign	0.00
R1741:Bcl9l	UTSW	9	44,420,986 (GRCm39)	missense	probably damaging	0.99
R1971:Bcl9l	UTSW	9	44,419,996 (GRCm39)	splice site	probably null
R1976:Bcl9l	UTSW	9	44,417,449 (GRCm39)	missense	possibly damaging	0.76
R4415:Bcl9l	UTSW	9	44,413,176 (GRCm39)	missense	possibly damaging	0.83
R4751:Bcl9l	UTSW	9	44,418,100 (GRCm39)	missense	probably damaging	0.99
R4810:Bcl9l	UTSW	9	44,419,650 (GRCm39)	missense	probably damaging	1.00
R4967:Bcl9l	UTSW	9	44,416,365 (GRCm39)	missense	possibly damaging	0.85
R5418:Bcl9l	UTSW	9	44,416,733 (GRCm39)	missense	possibly damaging	0.53
R5572:Bcl9l	UTSW	9	44,412,095 (GRCm39)	missense	possibly damaging	0.66
R5658:Bcl9l	UTSW	9	44,420,466 (GRCm39)	missense	probably damaging	1.00
R5812:Bcl9l	UTSW	9	44,417,941 (GRCm39)	missense	probably benign	0.01
R6515:Bcl9l	UTSW	9	44,419,171 (GRCm39)	splice site	probably null
R6670:Bcl9l	UTSW	9	44,418,369 (GRCm39)	small insertion	probably benign
R6682:Bcl9l	UTSW	9	44,412,400 (GRCm39)	missense	possibly damaging	0.91
R6966:Bcl9l	UTSW	9	44,420,685 (GRCm39)	nonsense	probably null
R7171:Bcl9l	UTSW	9	44,416,448 (GRCm39)	missense	probably benign	0.33
R7338:Bcl9l	UTSW	9	44,420,005 (GRCm39)	missense	probably benign
R7448:Bcl9l	UTSW	9	44,420,634 (GRCm39)	missense	probably benign	0.00
R7609:Bcl9l	UTSW	9	44,417,044 (GRCm39)	missense	probably damaging	0.99
R7793:Bcl9l	UTSW	9	44,420,994 (GRCm39)	missense	probably damaging	0.97
R7793:Bcl9l	UTSW	9	44,420,263 (GRCm39)	missense	probably benign	0.00
R8372:Bcl9l	UTSW	9	44,418,528 (GRCm39)	missense	probably benign
R8491:Bcl9l	UTSW	9	44,412,065 (GRCm39)	missense	probably benign	0.02
R8769:Bcl9l	UTSW	9	44,420,263 (GRCm39)	missense	probably benign	0.01
R8945:Bcl9l	UTSW	9	44,412,238 (GRCm39)	missense	possibly damaging	0.70
R9355:Bcl9l	UTSW	9	44,419,000 (GRCm39)	missense	probably benign	0.09
R9562:Bcl9l	UTSW	9	44,412,076 (GRCm39)	missense	possibly damaging	0.68
R9564:Bcl9l	UTSW	9	44,420,554 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTATAGTCTCTGCTCATGGGG -3'
(R):5'- ATTTAGGGAGTCTGGGCCTC -3'

Sequencing Primer
(F):5'- CTCTGCTCATGGGGGTGGTG -3'
(R):5'- CATTGAGTTTTGAGAAGAGCCCCC -3'

Posted On

2016-03-17