Mutagenetix > Incidental Mutation

Incidental Mutation 'R2107:Cblb'

232207

Institutional Source

Beutler Lab

Gene Symbol

Cblb

Ensembl Gene

ENSMUSG00000022637

Gene Name

Casitas B-lineage lymphoma b

Synonyms

Cbl-b

MMRRC Submission

040111-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R2107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51851593-52028410 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 51973079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153787 (fasta)

Gene Model

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

AlphaFold

Q3TTA7

Predicted Effect

probably null
Transcript: ENSMUST00000114471

SMART Domains

Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637

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 null
Transcript: ENSMUST00000226593

Predicted Effect

probably null
Transcript: ENSMUST00000227062

Predicted Effect

probably null
Transcript: ENSMUST00000227756

Predicted Effect

probably null
Transcript: ENSMUST00000227879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228247

Meta Mutation Damage Score

0.9590

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,685,744 (GRCm39)	L364Q	probably damaging	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Acp2	G	A	2: 91,033,940 (GRCm39)		probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Ccdc88c	G	T	12: 100,887,808 (GRCm39)	D1557E	probably benign	Het
Cdc20	T	C	4: 118,290,710 (GRCm39)	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,195,166 (GRCm39)	D350N	probably benign	Het
Cgrrf1	T	A	14: 47,090,833 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,036,156 (GRCm39)	Y185*	probably null	Het
Cmtm8	A	T	9: 114,625,176 (GRCm39)	V85D	possibly damaging	Het
Cplx4	A	G	18: 66,089,964 (GRCm39)	S152P	probably benign	Het
Crmp1	G	T	5: 37,399,838 (GRCm39)	R117L	probably benign	Het
Csad	G	C	15: 102,087,469 (GRCm39)	L365V	probably null	Het
Dyrk1a	C	T	16: 94,487,386 (GRCm39)	T532M	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fan1	T	G	7: 64,016,536 (GRCm39)	R529S	probably damaging	Het
Fbln5	A	G	12: 101,737,528 (GRCm39)	W173R	probably damaging	Het
Gm9611	A	T	14: 42,116,611 (GRCm39)	N42K	possibly damaging	Het
Gnal	T	A	18: 67,346,649 (GRCm39)	L257Q	probably damaging	Het
Hint3	A	T	10: 30,494,252 (GRCm39)	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,840,501 (GRCm39)	S403P	probably benign	Het
Kmt2c	T	C	5: 25,514,822 (GRCm39)	N3007S	probably benign	Het
Kpna3	T	C	14: 61,607,933 (GRCm39)	D424G	possibly damaging	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lamc2	A	G	1: 153,030,132 (GRCm39)		probably benign	Het
Lmtk3	G	T	7: 45,443,393 (GRCm39)	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,039,296 (GRCm39)	M269T	probably benign	Het
Lrrc19	T	A	4: 94,527,531 (GRCm39)	T227S	probably benign	Het
Lrrk1	C	A	7: 65,929,030 (GRCm39)	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,905 (GRCm39)	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310 (GRCm39)	W346R	probably damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nedd9	A	T	13: 41,492,455 (GRCm39)	C12*	probably null	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nisch	C	T	14: 30,894,097 (GRCm39)	V172I	probably damaging	Het
Npy2r	A	T	3: 82,448,436 (GRCm39)		probably null	Het
Ogg1	C	A	6: 113,306,254 (GRCm39)	N150K	probably damaging	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or1p1	T	C	11: 74,180,216 (GRCm39)	V248A	probably damaging	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Pck1	G	C	2: 172,995,861 (GRCm39)	E120Q	probably benign	Het
Pde11a	A	G	2: 76,168,266 (GRCm39)	V229A	probably damaging	Het
Pias2	T	C	18: 77,185,167 (GRCm39)	F83L	probably benign	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Plin3	A	T	17: 56,591,391 (GRCm39)	S130T	probably benign	Het
Rcc2	A	G	4: 140,448,496 (GRCm39)	Y515C	probably damaging	Het
Rgs12	A	G	5: 35,124,079 (GRCm39)	K621E	possibly damaging	Het
Rnf6	G	A	5: 146,148,091 (GRCm39)	T309I	probably damaging	Het
Rpusd3	G	T	6: 113,392,523 (GRCm39)	T335N	probably damaging	Het
Scn8a	A	T	15: 100,916,244 (GRCm39)	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,758,879 (GRCm39)	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,120,999 (GRCm39)	V363D	probably damaging	Het
Smap1	A	T	1: 23,887,535 (GRCm39)	M248K	possibly damaging	Het
Sp1	A	G	15: 102,318,113 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,744 (GRCm39)		probably null	Het
Tbc1d1	T	G	5: 64,442,048 (GRCm39)	N689K	probably benign	Het
Tff2	T	C	17: 31,361,256 (GRCm39)	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,116,378 (GRCm39)	N239D	possibly damaging	Het
Trim37	G	A	11: 87,050,651 (GRCm39)	R230Q	probably benign	Het
Ubr5	A	G	15: 37,989,546 (GRCm39)	M2090T	probably benign	Het
Unc13a	T	C	8: 72,108,895 (GRCm39)		probably null	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vav2	T	C	2: 27,157,315 (GRCm39)	E829G	probably damaging	Het
Vps35l	T	C	7: 118,393,762 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,353,533 (GRCm39)	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	Het

Other mutations in Cblb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Cblb	APN	16	52,003,670 (GRCm39)	missense	probably benign	0.28
IGL00927:Cblb	APN	16	51,986,461 (GRCm39)	missense	probably benign
IGL01108:Cblb	APN	16	51,867,814 (GRCm39)	critical splice donor site	probably null
IGL01336:Cblb	APN	16	52,006,592 (GRCm39)	missense	probably benign	0.00
IGL01943:Cblb	APN	16	51,959,996 (GRCm39)	splice site	probably null
IGL02273:Cblb	APN	16	51,867,657 (GRCm39)	missense	possibly damaging	0.95
IGL02405:Cblb	APN	16	51,986,616 (GRCm39)	missense	probably benign	0.32
IGL02445:Cblb	APN	16	51,986,668 (GRCm39)	missense	probably damaging	1.00
IGL02728:Cblb	APN	16	52,003,672 (GRCm39)	missense	probably benign	0.04
IGL03000:Cblb	APN	16	52,024,905 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Cblb	UTSW	16	51,959,905 (GRCm39)	nonsense	probably null
R0053:Cblb	UTSW	16	51,963,164 (GRCm39)	missense	probably damaging	0.97
R0053:Cblb	UTSW	16	51,963,164 (GRCm39)	missense	probably damaging	0.97
R0294:Cblb	UTSW	16	51,956,187 (GRCm39)	missense	probably damaging	1.00
R0403:Cblb	UTSW	16	51,972,989 (GRCm39)	missense	probably benign	0.23
R0506:Cblb	UTSW	16	52,024,843 (GRCm39)	missense	probably benign	0.25
R1172:Cblb	UTSW	16	52,006,603 (GRCm39)	splice site	probably benign
R1245:Cblb	UTSW	16	51,867,550 (GRCm39)	splice site	probably benign
R1443:Cblb	UTSW	16	51,959,974 (GRCm39)	missense	possibly damaging	0.95
R1549:Cblb	UTSW	16	51,853,373 (GRCm39)	splice site	probably benign
R1568:Cblb	UTSW	16	51,956,192 (GRCm39)	missense	probably damaging	1.00
R1734:Cblb	UTSW	16	52,006,603 (GRCm39)	splice site	probably benign
R2231:Cblb	UTSW	16	52,014,635 (GRCm39)	missense	probably benign	0.00
R4419:Cblb	UTSW	16	51,867,621 (GRCm39)	missense	possibly damaging	0.80
R4913:Cblb	UTSW	16	51,986,392 (GRCm39)	missense	possibly damaging	0.78
R4940:Cblb	UTSW	16	51,853,466 (GRCm39)	missense	probably damaging	1.00
R5159:Cblb	UTSW	16	51,932,483 (GRCm39)	missense	probably damaging	0.97
R5318:Cblb	UTSW	16	52,006,561 (GRCm39)	missense	possibly damaging	0.88
R5367:Cblb	UTSW	16	52,025,016 (GRCm39)	missense	probably damaging	1.00
R5432:Cblb	UTSW	16	51,963,228 (GRCm39)	missense	probably damaging	1.00
R5490:Cblb	UTSW	16	51,994,733 (GRCm39)	missense	possibly damaging	0.52
R5618:Cblb	UTSW	16	51,973,031 (GRCm39)	missense	possibly damaging	0.89
R6047:Cblb	UTSW	16	51,932,611 (GRCm39)	critical splice donor site	probably null
R6152:Cblb	UTSW	16	51,961,419 (GRCm39)	missense	probably damaging	0.98
R6667:Cblb	UTSW	16	51,973,007 (GRCm39)	missense	possibly damaging	0.81
R6914:Cblb	UTSW	16	51,867,793 (GRCm39)	missense	probably damaging	1.00
R7681:Cblb	UTSW	16	52,025,001 (GRCm39)	missense	probably damaging	0.96
R7940:Cblb	UTSW	16	51,972,899 (GRCm39)	missense	probably damaging	1.00
R8167:Cblb	UTSW	16	51,986,365 (GRCm39)	missense	probably benign	0.13
R8236:Cblb	UTSW	16	51,986,392 (GRCm39)	missense	possibly damaging	0.85
R8494:Cblb	UTSW	16	52,025,003 (GRCm39)	missense	probably damaging	1.00
R8880:Cblb	UTSW	16	51,986,368 (GRCm39)	missense	probably benign
R9308:Cblb	UTSW	16	52,009,374 (GRCm39)	critical splice acceptor site	probably null
R9386:Cblb	UTSW	16	51,986,701 (GRCm39)	nonsense	probably null
R9387:Cblb	UTSW	16	51,853,515 (GRCm39)	missense	probably benign	0.12
R9500:Cblb	UTSW	16	51,959,993 (GRCm39)	critical splice donor site	probably null
R9741:Cblb	UTSW	16	51,932,490 (GRCm39)	missense	probably damaging	1.00
X0011:Cblb	UTSW	16	51,972,992 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCTAGATTGGTTTGAGCCAGTC -3'
(R):5'- ATTTCCATGATGGGGAATGAGG -3'

Sequencing Primer
(F):5'- CCCTTCTGTCGCTGTGAGATAAAAG -3'
(R):5'- CCATGATGGGGAATGAGGGCTATAC -3'

Posted On

2014-09-18