Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00753:Bcl9l'

12494

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bcl9l

Ensembl Gene

ENSMUSG00000063382

Gene Name

B cell CLL/lymphoma 9-like

Synonyms

DLNB11

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00753

Quality Score

Status

Chromosome

Chromosomal Location

44394122-44423193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44416924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 254 (T254K)

Ref Sequence

ENSEMBL: ENSMUSP00000151342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074989] [ENSMUST00000218183] [ENSMUST00000218913] [ENSMUST00000220303]

AlphaFold

Q67FY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074989
AA Change: T291K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: T291K

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

noncoding transcript
Transcript: ENSMUST00000217898

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218183
AA Change: T291K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000218913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220292

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220303
AA Change: T254K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad5	C	A	11: 80,023,684 (GRCm39)	Q1596K	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Csmd3	A	G	15: 47,507,631 (GRCm39)	Y2961H	probably damaging	Het
Dop1b	A	G	16: 93,566,512 (GRCm39)	T980A	probably benign	Het
Gdpd3	C	A	7: 126,366,598 (GRCm39)	Y118*	probably null	Het
Ift140	T	A	17: 25,274,618 (GRCm39)	F763L	probably damaging	Het
Igfn1	G	T	1: 135,894,464 (GRCm39)	P2034H	probably damaging	Het
Msantd2	T	C	9: 37,434,845 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,715,977 (GRCm39)	S864P	probably damaging	Het
Plbd1	A	C	6: 136,611,468 (GRCm39)	Y270D	probably benign	Het
Plcl1	T	C	1: 55,735,897 (GRCm39)	S413P	probably damaging	Het
Scn2a	A	G	2: 65,514,207 (GRCm39)	N297S	possibly damaging	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Thsd7a	C	T	6: 12,327,528 (GRCm39)	C1448Y	probably damaging	Het
Tnpo3	T	A	6: 29,565,786 (GRCm39)	I523F	probably benign	Het
Vps13b	C	T	15: 35,372,177 (GRCm39)	S24L	probably damaging	Het
Wdr37	G	A	13: 8,911,210 (GRCm39)	R18C	probably damaging	Het
Zfyve16	T	A	13: 92,657,626 (GRCm39)	K762*	probably null	Het
Zmym2	T	A	14: 57,194,517 (GRCm39)	C1258*	probably null	Het
Zswim5	T	C	4: 116,842,933 (GRCm39)	W893R	possibly damaging	Het

Other mutations in Bcl9l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4880:Bcl9l	UTSW	9	44,420,007 (GRCm39)	missense	probably benign	0.01
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

Posted On

2012-12-06