Mutagenetix > Incidental Mutations

Incidental Mutation 'R0294:Cblb'

26317

Institutional Source

Beutler Lab

Gene Symbol

Cblb

Ensembl Gene

ENSMUSG00000022637

Gene Name

Casitas B-lineage lymphoma b

Synonyms

Cbl-b

MMRRC Submission

038511-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

R0294 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52031225-52208048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 52135824 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 263 (F263L)

Ref Sequence

ENSEMBL: ENSMUSP00000153787 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114471
AA Change: F263L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: F263L

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 damaging
Transcript: ENSMUST00000226593
AA Change: F263L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227062
AA Change: F263L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227756
AA Change: F111L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227879
AA Change: F263L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.4%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	ACCC	ACC	1: 178,276,503		noncoding transcript	Het
Aadat	A	G	8: 60,534,608	E319G	possibly damaging	Het
Abca13	A	G	11: 9,269,122		probably null	Het
Actl7b	A	T	4: 56,740,848	L170Q	possibly damaging	Het
Adam29	C	A	8: 55,873,276	V48L	probably benign	Het
Aknad1	A	G	3: 108,775,192	Y528C	probably damaging	Het
Alas1	T	A	9: 106,241,256	K222N	probably damaging	Het
Aplf	A	G	6: 87,646,245	V284A	probably benign	Het
Atp11a	G	A	8: 12,827,524	V317M	probably benign	Het
Bub3	A	G	7: 131,568,224	E206G	possibly damaging	Het
Ces2h	T	A	8: 105,016,604	M157K	probably benign	Het
Cfh	A	G	1: 140,183,261	F6L	probably benign	Het
Chst1	G	T	2: 92,613,642	R153L	probably damaging	Het
Cntnap5a	T	A	1: 115,915,316	N121K	probably benign	Het
Crybg1	A	T	10: 43,986,376	S1467R	probably damaging	Het
Cyp2d22	A	G	15: 82,374,445	F72L	possibly damaging	Het
Dmrt2	C	T	19: 25,678,071	P345S	probably damaging	Het
Dock8	T	C	19: 25,188,350	I1866T	probably damaging	Het
Egfem1	A	G	3: 29,690,121	N503S	probably damaging	Het
Ehbp1	T	C	11: 22,095,427	D774G	probably benign	Het
Foxp2	C	A	6: 15,376,774		probably benign	Het
Gins3	T	C	8: 95,637,919	V99A	possibly damaging	Het
Gm597	T	C	1: 28,778,663	Q96R	probably benign	Het
Grm1	A	T	10: 11,080,399	I47N	probably damaging	Het
H2afj	C	G	6: 136,808,604	R89G	probably damaging	Het
Hsdl2	T	A	4: 59,601,408	S127T	probably benign	Het
Il5ra	A	T	6: 106,712,401	M410K	probably benign	Het
Ints7	A	G	1: 191,611,891	S548G	possibly damaging	Het
Kcnt1	A	G	2: 25,888,110	E80G	probably damaging	Het
Lexm	T	C	4: 106,613,164	D232G	probably damaging	Het
Lgr6	A	G	1: 134,987,891	V373A	probably damaging	Het
Lgr6	T	A	1: 135,105,061	Q27L	unknown	Het
Map3k14	T	C	11: 103,227,137	I610V	possibly damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Metap1d	T	A	2: 71,522,545	H239Q	probably benign	Het
Mgst2	A	G	3: 51,681,830	Y88C	probably damaging	Het
Mroh4	T	C	15: 74,606,149	N903D	probably benign	Het
Nbeal2	T	G	9: 110,632,859	D1476A	probably damaging	Het
Nlgn1	C	A	3: 26,133,476	A87S	probably benign	Het
Nln	C	T	13: 104,052,579	G295S	probably damaging	Het
Nnt	T	A	13: 119,336,267	Y719F	probably benign	Het
Nnt	T	G	13: 119,338,417	I659L	possibly damaging	Het
Olfr1006	A	G	2: 85,674,716	V145A	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr506	A	T	7: 108,613,150	Y281F	probably damaging	Het
Olfr605	G	A	7: 103,443,084	T13I	possibly damaging	Het
Olfr64	A	T	7: 103,892,930	H268Q	probably benign	Het
Otogl	C	T	10: 107,777,228	C2041Y	probably damaging	Het
Patj	G	T	4: 98,497,048	D300Y	probably damaging	Het
Pkhd1l1	A	T	15: 44,560,435	E3124D	probably benign	Het
Plbd2	A	G	5: 120,487,449		probably null	Het
Pphln1	T	C	15: 93,420,290	Y57H	probably damaging	Het
Ppp1r16b	C	T	2: 158,746,603	T78M	probably damaging	Het
Prss40	T	G	1: 34,556,081	D224A	possibly damaging	Het
Senp6	A	G	9: 80,113,725		probably null	Het
Shank3	A	G	15: 89,532,098	E666G	probably damaging	Het
Slc13a1	T	A	6: 24,090,780	I547F	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc22a18	G	A	7: 143,492,841		probably null	Het
Slc5a4b	A	G	10: 76,081,327	C292R	probably damaging	Het
Sphkap	T	A	1: 83,278,245	E594D	possibly damaging	Het
Srpr	T	A	9: 35,215,515	M61K	probably damaging	Het
Trmt10c	A	T	16: 56,034,877	Y132N	possibly damaging	Het

Other mutations in Cblb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Cblb	APN	16	52183307	missense	probably benign	0.28
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
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
R8167:Cblb	UTSW	16	52166002	missense	probably benign	0.13
R8236:Cblb	UTSW	16	52166029	missense	possibly damaging	0.85
X0011:Cblb	UTSW	16	52152629	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCCATTGGGGCTACACCAAGAAAAG -3'
(R):5'- GAGCAGGAACACTGTGTACCCAAC -3'

Sequencing Primer
(F):5'- GATCACAAATTCTCTATTGGCTGTC -3'
(R):5'- GGGCTCAATTAATATGCACCCTC -3'

Posted On

2013-04-16