Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02445:Cblb'

293565

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?

Probably non essential (E-score: 0.211) question?

Stock #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

52031225-52208048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52166305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 485 (L485P)

Ref Sequence

ENSEMBL: ENSMUSP00000153753 (fasta)

Gene Model

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

AlphaFold

Q3TTA7

Predicted Effect

probably benign
Transcript: ENSMUST00000114471
AA Change: L637P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: L637P

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: L637P

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000227062
AA Change: L637P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227756
AA Change: L485P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227879
AA Change: L637P

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; 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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	T	A	8: 84,159,508	M31K	probably benign	Het
Acacb	C	T	5: 114,245,137	T2127M	probably damaging	Het
Acp2	A	G	2: 91,206,261	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,712	L801P	probably damaging	Het
Adcy10	T	G	1: 165,570,744	V1470G	possibly damaging	Het
Ankar	T	G	1: 72,666,365	K829Q	probably benign	Het
Arhgef10l	T	C	4: 140,547,007	Y531C	probably benign	Het
Atm	T	C	9: 53,454,330	I2590V	probably benign	Het
Col4a1	T	C	8: 11,233,911		probably benign	Het
Coprs	T	C	8: 13,885,797	K74R	possibly damaging	Het
Cul3	A	T	1: 80,304,169	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,096,653	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,008,824	V402L	probably damaging	Het
Disc1	T	A	8: 125,148,403		probably benign	Het
Dsg4	C	T	18: 20,446,250		probably benign	Het
Dspp	A	C	5: 104,177,097	Y442S	probably damaging	Het
Dtl	C	T	1: 191,558,060		probably null	Het
Ezh1	A	C	11: 101,210,687	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481	G100D	probably damaging	Het
Herc1	T	A	9: 66,433,482	H1704Q	possibly damaging	Het
Kif26a	T	C	12: 112,173,743	S469P	probably damaging	Het
Lefty1	T	C	1: 180,937,677	M270T	probably benign	Het
Nap1l3	A	T	X: 122,396,055	V322D	probably damaging	Het
Ndufv2	A	G	17: 66,080,894		probably benign	Het
Olfr1179	G	A	2: 88,402,112	T274I	possibly damaging	Het
Olfr126	A	T	17: 37,851,117	H175L	probably damaging	Het
Olfr922	T	C	9: 38,815,605	I34T	possibly damaging	Het
Otol1	A	T	3: 70,028,034	D453V	probably damaging	Het
Papolb	G	A	5: 142,528,725	H388Y	probably benign	Het
Ppp1r10	A	G	17: 35,926,202	E128G	probably damaging	Het
Prss12	T	A	3: 123,487,020	D451E	probably damaging	Het
Psmc1	T	C	12: 100,114,828		probably benign	Het
Pygo1	T	A	9: 72,925,940	I10N	probably benign	Het
Rab31	C	T	17: 65,722,003		probably null	Het
Ret	G	A	6: 118,181,899	T184I	probably damaging	Het
Rhd	A	T	4: 134,884,170	M214L	possibly damaging	Het
Ripor3	C	A	2: 167,992,762		probably benign	Het
Sec16a	A	G	2: 26,422,040	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,457,052	D335E	possibly damaging	Het
Ssfa2	G	A	2: 79,657,498	E642K	probably damaging	Het
Taf6	A	G	5: 138,184,494		probably benign	Het
Tnk2	T	C	16: 32,675,590	V442A	probably benign	Het
Virma	A	G	4: 11,527,029	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,803,640	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,008,419		noncoding transcript	Het
Zfp473	A	G	7: 44,733,683	C408R	probably 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
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