Mutagenetix > Incidental Mutations

Incidental Mutation 'R8167:Cblb'

633875

Institutional Source

Beutler Lab

Gene Symbol

Cblb

Ensembl Gene

ENSMUSG00000022637

Gene Name

Casitas B-lineage lymphoma b

Synonyms

Cbl-b

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R8167 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52031225-52208048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52166002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 536 (M536K)

Ref Sequence

ENSEMBL: ENSMUSP00000110115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114471]

AlphaFold

Q3TTA7

Predicted Effect

probably benign
Transcript: ENSMUST00000114471
AA Change: M536K

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: M536K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	A	G	15: 98,588,667	H106R	probably benign	Het
4931406B18Rik	T	A	7: 43,497,864	I315F	possibly damaging	Het
A430078G23Rik	A	T	8: 3,353,636		probably benign	Het
Acin1	G	A	14: 54,664,880	T485I	probably benign	Het
Adamts2	A	T	11: 50,779,714	I552F	probably damaging	Het
Anapc11	T	A	11: 120,599,286	N9K	probably benign	Het
Atp9b	T	C	18: 80,847,183	T314A		Het
Birc6	T	A	17: 74,643,394	I3214N	probably damaging	Het
Catsperb	A	G	12: 101,591,455	I762V	probably benign	Het
Ccdc85c	C	A	12: 108,274,500	A212S	unknown	Het
Cdh23	T	A	10: 60,314,383	D2561V	probably benign	Het
Cdh23	T	A	10: 60,337,693	Y1672F	probably damaging	Het
Cep83	T	C	10: 94,728,717	S173P	possibly damaging	Het
Ctc1	C	T	11: 69,027,758	P530S	probably damaging	Het
D630045J12Rik	A	G	6: 38,190,549		probably null	Het
Dnah7b	A	T	1: 46,253,511	I3019F	possibly damaging	Het
Dsc1	T	C	18: 20,097,201	D349G	probably damaging	Het
Ehd2	C	G	7: 15,963,992	G107R	probably damaging	Het
Epha3	A	T	16: 63,568,441	W816R	probably damaging	Het
Fam135b	T	A	15: 71,532,991	S69C	probably null	Het
Fbxo43	A	G	15: 36,151,771	F600S	probably damaging	Het
Flnc	A	T	6: 29,455,922	D2117V	probably damaging	Het
Gas2l3	T	A	10: 89,426,480	T127S	probably damaging	Het
Gli3	T	G	13: 15,725,643	L1205R	probably benign	Het
Gm17093	A	T	14: 44,520,682	I107F		Het
Gm7298	T	A	6: 121,784,455	C1323*	probably null	Het
Gm8298	T	A	3: 59,877,211	D368E	probably benign	Het
H2-D1	A	G	17: 35,266,765	T89A		Het
Hira	T	G	16: 18,896,509	D52E	probably benign	Het
Ighv6-6	G	C	12: 114,434,905	Y80*	probably null	Het
Kat6b	C	T	14: 21,669,885	T1435I	probably damaging	Het
Kcna1	C	A	6: 126,643,480		probably benign	Het
Kif24	C	A	4: 41,392,957	R1284L	possibly damaging	Het
Kremen2	A	C	17: 23,743,340	C173G	probably damaging	Het
Krtap24-1	G	C	16: 88,611,819	Q140E	probably benign	Het
Lrrc66	C	A	5: 73,629,609	G133*	probably null	Het
Mast1	C	A	8: 84,921,358	R498L	probably damaging	Het
Myom3	T	C	4: 135,807,193	I1231T	possibly damaging	Het
Nid2	G	A	14: 19,810,063	V1350I	possibly damaging	Het
Olfr1062	A	G	2: 86,423,140	C179R	probably damaging	Het
Olfr1312	A	T	2: 112,042,444	V196D	possibly damaging	Het
Olfr823	T	C	10: 130,112,481	Q103R	probably damaging	Het
Pde4a	A	G	9: 21,206,173	D577G	possibly damaging	Het
Pde4d	T	A	13: 109,442,321	N36K	probably benign	Het
Plekhg1	A	T	10: 3,957,452	S845C		Het
Plekhg1	G	A	10: 3,957,453	S845N		Het
Plod1	C	T	4: 147,920,201	D481N	probably damaging	Het
Plxna4	T	A	6: 32,517,046	M212L	probably damaging	Het
Ppip5k1	C	A	2: 121,342,801	E464*	probably null	Het
Raph1	T	A	1: 60,490,111	M664L	unknown	Het
Rbm11	A	C	16: 75,598,785	M115L	probably benign	Het
Rerg	T	C	6: 137,057,871	H45R	possibly damaging	Het
Rnf43	A	G	11: 87,727,406	E47G	probably benign	Het
Rsph1	A	G	17: 31,277,286		probably benign	Het
Safb	A	G	17: 56,585,286	E42G	unknown	Het
Scn1a	A	T	2: 66,324,838	D592E	probably damaging	Het
Sdf4	T	G	4: 156,008,922	V237G	possibly damaging	Het
Slc44a2	C	A	9: 21,346,772	H439Q	possibly damaging	Het
Smg7	A	T	1: 152,844,372	N761K	possibly damaging	Het
Snrpb2	A	G	2: 143,068,364	E114G	probably benign	Het
Ssh1	T	C	5: 113,951,990	D346G	possibly damaging	Het
Svopl	T	A	6: 38,017,044	I351F	probably damaging	Het
Tgfb2	A	G	1: 186,690,745	S136P	possibly damaging	Het
Thsd7a	A	T	6: 12,317,401	L1636*	probably null	Het
Tmc2	A	G	2: 130,241,568	T482A	probably benign	Het
Tnk2	C	A	16: 32,680,262	P798T	probably damaging	Het
Trim5	T	C	7: 104,278,423	Y170C	probably damaging	Het
Ttll10	T	C	4: 156,044,756	M310V	probably null	Het
Unc13c	T	A	9: 73,736,703	T1160S	probably damaging	Het
Usp25	A	T	16: 77,107,931	D795V	probably damaging	Het
Usp28	T	A	9: 49,037,848	V914E	probably damaging	Het
Utrn	A	T	10: 12,671,814	C1627*	probably null	Het
Vmn1r28	C	A	6: 58,266,067	F298L	noncoding transcript	Het
Vps29	T	C	5: 122,362,814	S69P	possibly damaging	Het
Zfp703	T	A	8: 26,979,754	L482H	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTCTCTGGAATCACAGGAG -3'
(R):5'- CATCACCTGGTTAGTCCCGAAG -3'

Sequencing Primer
(F):5'- GTCTCTGGAATCACAGGAGTTTAC -3'
(R):5'- AAGGCATCCCGAGGGCAC -3'

Posted On

2020-07-13