Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00157:Cblb'

844

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cblb

Ensembl Gene

ENSMUSG00000022637

Gene Name

Casitas B-lineage lymphoma b

Synonyms

Cbl-b

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

IGL00157

Quality Score

Status

Chromosome

Chromosomal Location

52031225-52208048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 52183307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 716 (V716G)

Ref Sequence

ENSEMBL: ENSMUSP00000153787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114471] [ENSMUST00000226593] [ENSMUST00000227062] [ENSMUST00000227756] [ENSMUST00000227879]

AlphaFold

Q3TTA7

Predicted Effect

probably benign
Transcript: ENSMUST00000114471
AA Change: V716G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: V716G

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
Pfam:Cbl_N	41	167	1.5e-58	PFAM
Pfam:Cbl_N2	171	254	2.9e-43	PFAM
SH2	257	354	3.22e0	SMART
RING	373	411	1.04e-7	SMART
low complexity region	447	454	N/A	INTRINSIC
low complexity region	543	567	N/A	INTRINSIC
low complexity region	666	682	N/A	INTRINSIC
low complexity region	773	783	N/A	INTRINSIC
low complexity region	792	804	N/A	INTRINSIC
low complexity region	857	871	N/A	INTRINSIC
UBA	888	925	4.06e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226593
AA Change: V716G

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000227062
AA Change: V716G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000227756
AA Change: V564G

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000227879
AA Change: V716G

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	A	G	7: 44,253,451	V331A	possibly damaging	Het
Casr	C	A	16: 36,495,810	V633F	probably damaging	Het
Cbln2	C	T	18: 86,716,384	Q156*	probably null	Het
Cnn1	G	T	9: 22,099,397	L14F	possibly damaging	Het
D830013O20Rik	T	C	12: 73,364,247		noncoding transcript	Het
Drd1	A	G	13: 54,053,878	S99P	probably damaging	Het
Fam35a	A	G	14: 34,268,625	V108A	probably benign	Het
Fat1	T	C	8: 44,951,670	V486A	possibly damaging	Het
Galnt7	T	C	8: 57,540,039	N416S	probably damaging	Het
Gm10735	T	C	13: 113,041,484		probably benign	Het
Gm8909	A	T	17: 36,165,354		probably null	Het
Jag2	T	C	12: 112,912,718	T790A	probably benign	Het
Klhdc1	T	A	12: 69,242,008	Y31N	possibly damaging	Het
Lama1	A	T	17: 67,815,928	M2769L	probably benign	Het
Mms19	A	G	19: 41,945,457		probably null	Het
Msrb2	C	A	2: 19,394,341	P172T	probably damaging	Het
Olfr228	T	C	2: 86,483,218	S175G	probably benign	Het
Olfr955	A	G	9: 39,470,243	V161A	probably benign	Het
Pcdhb9	T	A	18: 37,403,279	D775E	possibly damaging	Het
Pkhd1	T	C	1: 20,566,874		probably null	Het
Preb	A	T	5: 30,955,964	D375E	probably damaging	Het
Prkdc	T	C	16: 15,697,226	I1010T	probably damaging	Het
Rbp2	A	G	9: 98,498,897		probably null	Het
Sept9	A	G	11: 117,352,184	T66A	probably damaging	Het
Serpinb9b	A	T	13: 33,035,625	E178D	probably benign	Het
Tg	A	G	15: 66,847,166	Y258C	probably damaging	Het
Tmprss7	T	C	16: 45,663,368	R548G	probably benign	Het
Uba7	G	A	9: 107,979,111	A536T	probably benign	Het
Vmn2r114	G	A	17: 23,291,665	P614S	probably damaging	Het
Xpc	A	G	6: 91,492,264		probably benign	Het
Yrdc	T	C	4: 124,853,961	S86P	probably damaging	Het
Zbed6	G	T	1: 133,657,376	A741D	probably damaging	Het

Other mutations in Cblb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Cblb	APN	16	52166098	missense	probably benign
IGL01108:Cblb	APN	16	52047451	critical splice donor site	probably null
IGL01336:Cblb	APN	16	52186229	missense	probably benign	0.00
IGL01943:Cblb	APN	16	52139633	splice site	probably null
IGL02273:Cblb	APN	16	52047294	missense	possibly damaging	0.95
IGL02405:Cblb	APN	16	52166253	missense	probably benign	0.32
IGL02445:Cblb	APN	16	52166305	missense	probably damaging	1.00
IGL02728:Cblb	APN	16	52183309	missense	probably benign	0.04
IGL03000:Cblb	APN	16	52204542	missense	probably damaging	1.00
PIT4362001:Cblb	UTSW	16	52139542	nonsense	probably null
R0053:Cblb	UTSW	16	52142801	missense	probably damaging	0.97
R0053:Cblb	UTSW	16	52142801	missense	probably damaging	0.97
R0294:Cblb	UTSW	16	52135824	missense	probably damaging	1.00
R0403:Cblb	UTSW	16	52152626	missense	probably benign	0.23
R0506:Cblb	UTSW	16	52204480	missense	probably benign	0.25
R1172:Cblb	UTSW	16	52186240	splice site	probably benign
R1245:Cblb	UTSW	16	52047187	splice site	probably benign
R1443:Cblb	UTSW	16	52139611	missense	possibly damaging	0.95
R1549:Cblb	UTSW	16	52033010	splice site	probably benign
R1568:Cblb	UTSW	16	52135829	missense	probably damaging	1.00
R1734:Cblb	UTSW	16	52186240	splice site	probably benign
R2107:Cblb	UTSW	16	52152716	critical splice donor site	probably null
R2231:Cblb	UTSW	16	52194272	missense	probably benign	0.00
R4419:Cblb	UTSW	16	52047258	missense	possibly damaging	0.80
R4913:Cblb	UTSW	16	52166029	missense	possibly damaging	0.78
R4940:Cblb	UTSW	16	52033103	missense	probably damaging	1.00
R5159:Cblb	UTSW	16	52112120	missense	probably damaging	0.97
R5318:Cblb	UTSW	16	52186198	missense	possibly damaging	0.88
R5367:Cblb	UTSW	16	52204653	missense	probably damaging	1.00
R5432:Cblb	UTSW	16	52142865	missense	probably damaging	1.00
R5490:Cblb	UTSW	16	52174370	missense	possibly damaging	0.52
R5618:Cblb	UTSW	16	52152668	missense	possibly damaging	0.89
R6047:Cblb	UTSW	16	52112248	critical splice donor site	probably null
R6152:Cblb	UTSW	16	52141056	missense	probably damaging	0.98
R6667:Cblb	UTSW	16	52152644	missense	possibly damaging	0.81
R6914:Cblb	UTSW	16	52047430	missense	probably damaging	1.00
R7681:Cblb	UTSW	16	52204638	missense	probably damaging	0.96
R7940:Cblb	UTSW	16	52152536	missense	probably damaging	1.00
R8167:Cblb	UTSW	16	52166002	missense	probably benign	0.13
R8236:Cblb	UTSW	16	52166029	missense	possibly damaging	0.85
R8494:Cblb	UTSW	16	52204640	missense	probably damaging	1.00
R8880:Cblb	UTSW	16	52166005	missense	probably benign
R9308:Cblb	UTSW	16	52189011	critical splice acceptor site	probably null
R9386:Cblb	UTSW	16	52166338	nonsense	probably null
R9387:Cblb	UTSW	16	52033152	missense	probably benign	0.12
X0011:Cblb	UTSW	16	52152629	missense	probably benign	0.03

Posted On

2011-07-12