Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02405:Cblb'

292038

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

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

IGL02405

Quality Score

Status

Chromosome

Chromosomal Location

52031225-52208048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52166253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 620 (A620T)

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: A620T

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

SMART Domains

Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: A620T

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: A620T

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000227062
AA Change: A620T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227756
AA Change: A468T

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000227879
AA Change: A620T

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

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
Abca17	A	G	17: 24,279,062	S1434P	possibly damaging	Het
Abcc12	G	T	8: 86,558,153	Q278K	probably damaging	Het
Adk	A	G	14: 21,103,831	K48R	probably benign	Het
Atp8b3	C	T	10: 80,530,628	G267D	probably damaging	Het
Bpifa6	T	A	2: 153,990,862	L299*	probably null	Het
Cep128	C	T	12: 91,266,986	R436H	probably benign	Het
Chd4	A	G	6: 125,097,227	D21G	probably benign	Het
Cnksr1	T	C	4: 134,236,281	D30G	possibly damaging	Het
Crybb2	A	G	5: 113,058,508	Y154H	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhx57	A	T	17: 80,255,550		probably null	Het
Eri2	T	C	7: 119,785,482	R599G	probably damaging	Het
Fcrl1	A	C	3: 87,385,767	K244Q	probably damaging	Het
Gm11992	A	G	11: 9,059,939	N179S	probably benign	Het
Hgfac	A	G	5: 35,044,480	D319G	probably benign	Het
Irf5	G	A	6: 29,535,761	R258H	probably damaging	Het
Mecr	G	A	4: 131,862,992		probably null	Het
Obscn	T	G	11: 59,132,602	K650Q	probably damaging	Het
Olfr1450	A	G	19: 12,954,459	Y290C	probably damaging	Het
Pde4d	T	C	13: 108,860,209		probably null	Het
Ppp1r32	G	A	19: 10,474,566	T406I	probably damaging	Het
Serpinh1	A	G	7: 99,347,334	M217T	possibly damaging	Het
Setbp1	A	T	18: 78,857,299	M1051K	probably damaging	Het
Slc43a3	A	G	2: 84,938,241	E68G	probably damaging	Het
Supt5	T	C	7: 28,315,824	N969D	probably benign	Het
Taf2	A	T	15: 55,034,155		probably benign	Het
Tlr2	A	G	3: 83,836,674	F701L	probably damaging	Het
Trim46	T	C	3: 89,242,485	T222A	probably benign	Het
Tshz3	A	T	7: 36,769,650	N355Y	possibly damaging	Het
Vmn2r3	A	G	3: 64,271,199		probably benign	Het
Xkr9	A	T	1: 13,672,773		probably benign	Het
Zfhx3	C	T	8: 108,955,742	A3271V	unknown	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
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
R9500:Cblb	UTSW	16	52139630	critical splice donor site	probably null
R9741:Cblb	UTSW	16	52112127	missense	probably damaging	1.00
X0011:Cblb	UTSW	16	52152629	missense	probably benign	0.03

Posted On

2015-04-16