Mutagenetix > Incidental Mutation

Incidental Mutation 'R9308:Cblb'

705369

Institutional Source

Beutler Lab

Gene Symbol

Cblb

Ensembl Gene

ENSMUSG00000022637

Gene Name

Casitas B-lineage lymphoma b

Synonyms

Cbl-b

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R9308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51851593-52028410 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 52009374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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 benign
Transcript: ENSMUST00000226593

Predicted Effect

probably benign
Transcript: ENSMUST00000227062

Predicted Effect

probably benign
Transcript: ENSMUST00000227756

Predicted Effect

probably benign
Transcript: ENSMUST00000227879

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,220,667 (GRCm39)	E389*	probably null	Het
2700049A03Rik	T	C	12: 71,231,233 (GRCm39)	V997A	probably benign	Het
9930012K11Rik	A	G	14: 70,393,863 (GRCm39)		probably null	Het
Acss3	C	G	10: 106,959,282 (GRCm39)	G55R	possibly damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Acy3	C	T	19: 4,038,451 (GRCm39)	R193W	probably damaging	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adamts9	T	C	6: 92,857,875 (GRCm39)	D833G	probably benign	Het
Apoa2	A	G	1: 171,053,300 (GRCm39)	S40G	probably benign	Het
Arhgap21	A	T	2: 20,854,061 (GRCm39)	M1777K	probably damaging	Het
BC004004	A	G	17: 29,513,089 (GRCm39)	E171G	probably benign	Het
Cdk5rap2	T	C	4: 70,328,504 (GRCm39)	M1V	probably null	Het
Clca4a	T	G	3: 144,676,183 (GRCm39)	E117A	probably damaging	Het
Cps1	T	C	1: 67,200,118 (GRCm39)		probably null	Het
Crygd	T	C	1: 65,101,220 (GRCm39)	N125S	probably benign	Het
Csf1	T	A	3: 107,655,585 (GRCm39)	H482L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Dgkg	C	A	16: 22,429,528 (GRCm39)		probably null	Het
Dnhd1	T	C	7: 105,353,484 (GRCm39)	V2879A	probably damaging	Het
Dock6	A	T	9: 21,728,744 (GRCm39)	C1307*	probably null	Het
Exoc1	T	A	5: 76,706,968 (GRCm39)	M505K	probably benign	Het
Fam131a	A	G	16: 20,520,582 (GRCm39)	D345G	probably damaging	Het
Fbxw17	G	T	13: 50,572,004 (GRCm39)	R24L	probably benign	Het
Gmcl1	A	C	6: 86,691,239 (GRCm39)	I252R	possibly damaging	Het
Gpr150	G	A	13: 76,203,701 (GRCm39)	R415C	probably damaging	Het
Gtf3c4	G	A	2: 28,724,982 (GRCm39)	S250L	probably damaging	Het
Irs3	G	A	5: 137,642,343 (GRCm39)	A365V	possibly damaging	Het
Jph4	C	A	14: 55,346,981 (GRCm39)	G522V	probably damaging	Het
Kcnn1	C	T	8: 71,305,434 (GRCm39)	G302R	probably damaging	Het
Ksr1	A	T	11: 78,918,291 (GRCm39)	L621H	probably damaging	Het
Lrrn3	T	C	12: 41,503,945 (GRCm39)	E124G	probably damaging	Het
Map3k6	T	C	4: 132,970,722 (GRCm39)	L203P	probably damaging	Het
Mapk15	T	A	15: 75,865,714 (GRCm39)	C2*	probably null	Het
Mga	T	A	2: 119,754,369 (GRCm39)	N959K	possibly damaging	Het
Mrgprb2	A	T	7: 48,202,655 (GRCm39)	N23K	possibly damaging	Het
Myo10	G	T	15: 25,781,862 (GRCm39)	S1119I	probably damaging	Het
Or12e13	G	A	2: 87,663,523 (GRCm39)	G47R	probably damaging	Het
Or14j4	A	G	17: 37,921,246 (GRCm39)	V132A	possibly damaging	Het
Or2a12	G	T	6: 42,904,749 (GRCm39)	V195F	probably benign	Het
Or2a25	A	T	6: 42,888,931 (GRCm39)	H158L	probably damaging	Het
Or6k6	A	G	1: 173,945,501 (GRCm39)	V27A	probably benign	Het
Ovch2	T	C	7: 107,389,560 (GRCm39)	E329G	probably benign	Het
Pkn2	C	T	3: 142,517,724 (GRCm39)	R458Q	probably benign	Het
Pnpt1	T	C	11: 29,097,535 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,556 (GRCm39)	V666A	probably benign	Het
Psmb10	T	C	8: 106,662,662 (GRCm39)	R226G	probably damaging	Het
Ptpn5	A	G	7: 46,740,569 (GRCm39)	V78A	probably benign	Het
Ptprk	A	G	10: 28,450,850 (GRCm39)	M1004V	probably benign	Het
Pygb	T	A	2: 150,668,297 (GRCm39)	S626T	probably benign	Het
Rad21l	T	C	2: 151,491,049 (GRCm39)	T473A	probably benign	Het
Rassf7	T	C	7: 140,798,063 (GRCm39)	S344P	probably benign	Het
Rbbp6	T	C	7: 122,596,221 (GRCm39)	S550P	probably damaging	Het
Rhpn2	T	C	7: 35,033,805 (GRCm39)	L13P	possibly damaging	Het
Rps11	C	T	7: 44,772,614 (GRCm39)	V66I	probably benign	Het
Slc22a18	T	C	7: 143,044,617 (GRCm39)	V190A	probably benign	Het
Smad1	T	C	8: 80,098,899 (GRCm39)		probably benign	Het
Spock2	A	G	10: 59,965,556 (GRCm39)	K327E	possibly damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traj22	T	C	14: 54,434,729 (GRCm39)	I8T		Het
Txnl1	T	C	18: 63,812,446 (GRCm39)	D116G	probably benign	Het
Ush1g	A	T	11: 115,209,534 (GRCm39)	L220Q	probably damaging	Het
Vmn2r10	C	A	5: 109,145,476 (GRCm39)	E544*	probably null	Het
Vmn2r17	T	C	5: 109,600,505 (GRCm39)	V601A	probably damaging	Het
Zc3h13	C	T	14: 75,565,418 (GRCm39)	R844W	unknown	Het
Zfpm1	A	C	8: 123,034,231 (GRCm39)	D55A	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
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
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
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'- GGTACATTCGCATGCATGTG -3'
(R):5'- TAAAAGAAAATGCTGCTTTTGCC -3'

Sequencing Primer
(F):5'- TTTTCTATCCTCACACCCACAAAG -3'
(R):5'- GAGCCTGGAGGTTTTGAAT -3'

Posted On

2022-03-25