Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Cblb'

554655

Institutional Source

Beutler Lab

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: 0.208) question?

Stock #

PIT4362001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51851593-52028410 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 51959905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 299 (Y299*)

Ref Sequence

ENSEMBL: ENSMUSP00000110115 (fasta)

Gene Model

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

AlphaFold

Q3TTA7

Predicted Effect

probably null
Transcript: ENSMUST00000114471
AA Change: Y299*

SMART Domains

Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: Y299*

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
AA Change: Y299*

Predicted Effect

probably null
Transcript: ENSMUST00000227062
AA Change: Y299*

Predicted Effect

probably null
Transcript: ENSMUST00000227756
AA Change: Y147*

Predicted Effect

probably null
Transcript: ENSMUST00000227879
AA Change: Y299*

Coding Region Coverage

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,283,398 (GRCm39)	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,129,100 (GRCm39)	V165A	probably damaging	Het
Aox1	A	T	1: 58,321,839 (GRCm39)	T44S	probably damaging	Het
Arhgap29	T	A	3: 121,796,861 (GRCm39)	N482K	probably benign	Het
Arhgef38	T	A	3: 132,866,591 (GRCm39)	D182V		Het
Atad5	C	T	11: 80,002,393 (GRCm39)	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,742,453 (GRCm39)	S147P	possibly damaging	Het
Ccdc28b	T	C	4: 129,514,818 (GRCm39)	N97S	probably benign	Het
Cdh23	A	G	10: 60,301,237 (GRCm39)	V479A	probably benign	Het
Chuk	A	G	19: 44,087,022 (GRCm39)		probably null	Het
Cmtr2	G	A	8: 110,948,968 (GRCm39)	G426D	probably damaging	Het
Cog4	G	A	8: 111,593,304 (GRCm39)	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472 (GRCm39)	L193*	probably null	Het
Cxcr6	A	T	9: 123,639,526 (GRCm39)	I183F	probably benign	Het
Dbf4	A	G	5: 8,453,664 (GRCm39)	F253L	probably benign	Het
Dcaf8	T	C	1: 172,000,364 (GRCm39)	V174A	probably damaging	Het
Ddhd2	T	C	8: 26,225,779 (GRCm39)	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,647,766 (GRCm39)	V33A	probably benign	Het
Egfl7	C	T	2: 26,481,052 (GRCm39)	P188L	probably benign	Het
Ephb3	A	G	16: 21,039,607 (GRCm39)	E707G	probably damaging	Het
Epn3	C	T	11: 94,387,349 (GRCm39)	R7H	probably damaging	Het
Fbp1	T	A	13: 63,015,194 (GRCm39)	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,896,088 (GRCm39)	R177*	probably null	Het
Gask1b	C	A	3: 79,794,246 (GRCm39)	S238Y	possibly damaging	Het
Gbp5	T	C	3: 142,206,471 (GRCm39)	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,685,277 (GRCm39)	S282T	probably benign	Het
Glg1	A	T	8: 111,985,431 (GRCm39)	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,423,949 (GRCm39)	L736F	probably benign	Het
Gm5565	A	T	5: 146,095,109 (GRCm39)	S212R	probably benign	Het
Grin2c	T	C	11: 115,140,459 (GRCm39)	T1220A	probably benign	Het
Grp	T	G	18: 66,019,297 (GRCm39)	S133A	probably benign	Het
Gstp2	C	A	19: 4,090,713 (GRCm39)	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,768,392 (GRCm39)	F84L	probably damaging	Het
Inppl1	T	C	7: 101,475,220 (GRCm39)	R944G	probably benign	Het
Lama2	A	T	10: 27,245,132 (GRCm39)	N216K	probably damaging	Het
Lrp2	T	A	2: 69,367,882 (GRCm39)	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,791,608 (GRCm39)	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 102,907,055 (GRCm39)	I1555T	probably benign	Het
Map2	G	A	1: 66,451,677 (GRCm39)	G189D	probably benign	Het
Mdc1	A	G	17: 36,155,361 (GRCm39)	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,844,542 (GRCm39)	D152G	possibly damaging	Het
Med23	A	G	10: 24,750,469 (GRCm39)	M99V	probably benign	Het
Mutyh	G	A	4: 116,674,267 (GRCm39)	V273M	probably damaging	Het
Neurod2	T	A	11: 98,218,708 (GRCm39)	Y152F	probably damaging	Het
Or5d3	C	T	2: 88,174,357 (GRCm39)	A247T	probably benign	Het
Or5g25	A	C	2: 85,478,068 (GRCm39)	L199R	probably damaging	Het
Or8c20	G	T	9: 38,260,494 (GRCm39)	L32F	probably benign	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pde6b	T	C	5: 108,571,451 (GRCm39)		probably null	Het
Pdzrn4	A	T	15: 92,667,762 (GRCm39)	D638V	possibly damaging	Het
Polr1b	A	G	2: 128,951,212 (GRCm39)	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,251,143 (GRCm39)	D127V	probably damaging	Het
Rspo4	T	A	2: 151,709,803 (GRCm39)	C69*	probably null	Het
Scara3	T	C	14: 66,173,851 (GRCm39)	T63A	probably benign	Het
Scn2a	G	A	2: 65,514,182 (GRCm39)	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,295,786 (GRCm39)	T163A	probably benign	Het
Slc2a10	T	A	2: 165,358,213 (GRCm39)	F446Y	probably damaging	Het
Snapc1	C	T	12: 74,029,269 (GRCm39)	R351C	probably damaging	Het
Snx6	A	G	12: 54,814,815 (GRCm39)	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,697,299 (GRCm39)	C1996*	probably null	Het
Steap4	A	G	5: 8,030,337 (GRCm39)	T398A	probably benign	Het
Tep1	A	T	14: 51,103,510 (GRCm39)	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,463 (GRCm39)	V70D	possibly damaging	Het
Ttn	G	A	2: 76,569,362 (GRCm39)	A27177V	probably damaging	Het
Ube3a	T	C	7: 58,925,870 (GRCm39)	V237A	possibly damaging	Het
Vil1	G	A	1: 74,460,542 (GRCm39)	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,433,088 (GRCm39)	T716A	probably benign	Het
Zbp1	A	G	2: 173,058,783 (GRCm39)	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524 (GRCm39)	V1845A	probably benign	Het
Zfp407	A	T	18: 84,579,393 (GRCm39)	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,767,735 (GRCm39)	T626A	probably benign	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
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
R2107:Cblb	UTSW	16	51,973,079 (GRCm39)	critical splice donor site	probably null
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'- AATCTCTTGGTAGTTTCCAGCC -3'
(R):5'- GCTCTATGCCCATGGTATGC -3'

Sequencing Primer
(F):5'- CACAGATTGATAACACTAAGGTACAG -3'
(R):5'- ATGGTATGCTCTATGCCCAGACAG -3'

Posted On

2019-06-07