Mutagenetix > Incidental Mutation

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

067593-MU

Accession Numbers

Essential gene?

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

Stock #

R8167 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51851593-52028410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51986365 bp (GRCm39)

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
4931406B18Rik	T	A	7: 43,147,288 (GRCm39)	I315F	possibly damaging	Het
Aadacl2fm3	T	A	3: 59,784,632 (GRCm39)	D368E	probably benign	Het
Acin1	G	A	14: 54,902,337 (GRCm39)	T485I	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Anapc11	T	A	11: 120,490,112 (GRCm39)	N9K	probably benign	Het
Arhgef18	A	T	8: 3,403,636 (GRCm39)		probably benign	Het
Atp9b	T	C	18: 80,890,398 (GRCm39)	T314A		Het
Birc6	T	A	17: 74,950,389 (GRCm39)	I3214N	probably damaging	Het
Catsperb	A	G	12: 101,557,714 (GRCm39)	I762V	probably benign	Het
Ccdc85c	C	A	12: 108,240,759 (GRCm39)	A212S	unknown	Het
Cdh23	T	A	10: 60,150,162 (GRCm39)	D2561V	probably benign	Het
Cdh23	T	A	10: 60,173,472 (GRCm39)	Y1672F	probably damaging	Het
Cep83	T	C	10: 94,564,579 (GRCm39)	S173P	possibly damaging	Het
Ctc1	C	T	11: 68,918,584 (GRCm39)	P530S	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,484 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,292,671 (GRCm39)	I3019F	possibly damaging	Het
Dsc1	T	C	18: 20,230,258 (GRCm39)	D349G	probably damaging	Het
Ehd2	C	G	7: 15,697,917 (GRCm39)	G107R	probably damaging	Het
Epha3	A	T	16: 63,388,804 (GRCm39)	W816R	probably damaging	Het
Fam135b	T	A	15: 71,404,840 (GRCm39)	S69C	probably null	Het
Fbxo43	A	G	15: 36,151,917 (GRCm39)	F600S	probably damaging	Het
Flnc	A	T	6: 29,455,921 (GRCm39)	D2117V	probably damaging	Het
Gas2l3	T	A	10: 89,262,342 (GRCm39)	T127S	probably damaging	Het
Gli3	T	G	13: 15,900,228 (GRCm39)	L1205R	probably benign	Het
Gm17093	A	T	14: 44,758,139 (GRCm39)	I107F		Het
Gm7298	T	A	6: 121,761,414 (GRCm39)	C1323*	probably null	Het
H2-D1	A	G	17: 35,485,741 (GRCm39)	T89A		Het
Hira	T	G	16: 18,715,259 (GRCm39)	D52E	probably benign	Het
Ighv6-6	G	C	12: 114,398,525 (GRCm39)	Y80*	probably null	Het
Kat6b	C	T	14: 21,719,953 (GRCm39)	T1435I	probably damaging	Het
Kcna1	C	A	6: 126,620,443 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,392,957 (GRCm39)	R1284L	possibly damaging	Het
Kremen2	A	C	17: 23,962,314 (GRCm39)	C173G	probably damaging	Het
Krtap24-1	G	C	16: 88,408,707 (GRCm39)	Q140E	probably benign	Het
Lrrc66	C	A	5: 73,786,952 (GRCm39)	G133*	probably null	Het
Mast1	C	A	8: 85,647,987 (GRCm39)	R498L	probably damaging	Het
Myom3	T	C	4: 135,534,504 (GRCm39)	I1231T	possibly damaging	Het
Nid2	G	A	14: 19,860,131 (GRCm39)	V1350I	possibly damaging	Het
Or4f59	A	T	2: 111,872,789 (GRCm39)	V196D	possibly damaging	Het
Or8j3c	A	G	2: 86,253,484 (GRCm39)	C179R	probably damaging	Het
Or9r3	T	C	10: 129,948,350 (GRCm39)	Q103R	probably damaging	Het
Pde4a	A	G	9: 21,117,469 (GRCm39)	D577G	possibly damaging	Het
Pde4d	T	A	13: 109,578,855 (GRCm39)	N36K	probably benign	Het
Plekhg1	A	T	10: 3,907,452 (GRCm39)	S845C		Het
Plekhg1	G	A	10: 3,907,453 (GRCm39)	S845N		Het
Plod1	C	T	4: 148,004,658 (GRCm39)	D481N	probably damaging	Het
Plxna4	T	A	6: 32,493,981 (GRCm39)	M212L	probably damaging	Het
Ppip5k1	C	A	2: 121,173,282 (GRCm39)	E464*	probably null	Het
Raph1	T	A	1: 60,529,270 (GRCm39)	M664L	unknown	Het
Rbm11	A	C	16: 75,395,673 (GRCm39)	M115L	probably benign	Het
Rerg	T	C	6: 137,034,869 (GRCm39)	H45R	possibly damaging	Het
Rnf43	A	G	11: 87,618,232 (GRCm39)	E47G	probably benign	Het
Rsph1	A	G	17: 31,496,260 (GRCm39)		probably benign	Het
Safb	A	G	17: 56,892,286 (GRCm39)	E42G	unknown	Het
Scn1a	A	T	2: 66,155,182 (GRCm39)	D592E	probably damaging	Het
Sdf4	T	G	4: 156,093,379 (GRCm39)	V237G	possibly damaging	Het
Slc44a2	C	A	9: 21,258,068 (GRCm39)	H439Q	possibly damaging	Het
Smg7	A	T	1: 152,720,123 (GRCm39)	N761K	possibly damaging	Het
Snrpb2	A	G	2: 142,910,284 (GRCm39)	E114G	probably benign	Het
Spmip11	A	G	15: 98,486,548 (GRCm39)	H106R	probably benign	Het
Ssh1	T	C	5: 114,090,051 (GRCm39)	D346G	possibly damaging	Het
Svopl	T	A	6: 37,993,979 (GRCm39)	I351F	probably damaging	Het
Tgfb2	A	G	1: 186,422,942 (GRCm39)	S136P	possibly damaging	Het
Thsd7a	A	T	6: 12,317,400 (GRCm39)	L1636*	probably null	Het
Tmc2	A	G	2: 130,083,488 (GRCm39)	T482A	probably benign	Het
Tnk2	C	A	16: 32,499,080 (GRCm39)	P798T	probably damaging	Het
Trim5	T	C	7: 103,927,630 (GRCm39)	Y170C	probably damaging	Het
Ttll10	T	C	4: 156,129,213 (GRCm39)	M310V	probably null	Het
Unc13c	T	A	9: 73,643,985 (GRCm39)	T1160S	probably damaging	Het
Usp25	A	T	16: 76,904,819 (GRCm39)	D795V	probably damaging	Het
Usp28	T	A	9: 48,949,148 (GRCm39)	V914E	probably damaging	Het
Utrn	A	T	10: 12,547,558 (GRCm39)	C1627*	probably null	Het
Vmn1r28	C	A	6: 58,243,052 (GRCm39)	F298L	noncoding transcript	Het
Vps29	T	C	5: 122,500,877 (GRCm39)	S69P	possibly damaging	Het
Zfp703	T	A	8: 27,469,782 (GRCm39)	L482H	probably 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
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
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'- GTGTCTCTGGAATCACAGGAG -3'
(R):5'- CATCACCTGGTTAGTCCCGAAG -3'

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

Posted On

2020-07-13