Mutagenetix > Incidental Mutation

Incidental Mutation 'R0403:Cblb'

35737

Institutional Source

Beutler Lab

Gene Symbol

Cblb

Ensembl Gene

ENSMUSG00000022637

Gene Name

Casitas B-lineage lymphoma b

Synonyms

Cbl-b

MMRRC Submission

038608-MU

Accession Numbers

Essential gene?

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

Stock #

R0403 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51851593-52028410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51972989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 440 (D440G)

Ref Sequence

ENSEMBL: ENSMUSP00000153787 (fasta)

Gene Model

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

AlphaFold

Q3TTA7

Predicted Effect

probably benign
Transcript: ENSMUST00000114471
AA Change: D440G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: D440G

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
AA Change: D440G

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000227062
AA Change: D440G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000227756
AA Change: D288G

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000227879
AA Change: D440G

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228247

Meta Mutation Damage Score

0.0779

Coding Region Coverage

1x: 98.0%
3x: 96.8%
10x: 93.2%
20x: 83.7%

Validation Efficiency

97% (110/113)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,864,706 (GRCm39)		probably null	Het
Adgrg3	C	T	8: 95,763,550 (GRCm39)	L284F	probably benign	Het
Alkbh8	T	A	9: 3,385,469 (GRCm39)	V587E	probably damaging	Het
Ap4b1	T	A	3: 103,728,712 (GRCm39)	M590K	probably benign	Het
Ap4b1	T	A	3: 103,726,155 (GRCm39)	C244S	probably damaging	Het
Arhgap15	C	T	2: 43,953,778 (GRCm39)	T168I	probably damaging	Het
Atp8b1	A	G	18: 64,673,381 (GRCm39)	V997A	probably damaging	Het
Atrn	G	A	2: 130,748,779 (GRCm39)	C100Y	probably damaging	Het
Baiap2l2	C	A	15: 79,155,416 (GRCm39)	A151S	probably benign	Het
Baz2b	A	T	2: 59,799,721 (GRCm39)	D199E	possibly damaging	Het
Bmal2	T	A	6: 146,724,153 (GRCm39)	H348Q	probably damaging	Het
Cdon	T	C	9: 35,384,796 (GRCm39)	V694A	probably benign	Het
Cep250	A	T	2: 155,834,269 (GRCm39)	R2065W	probably damaging	Het
Ces2b	G	T	8: 105,560,577 (GRCm39)	A131S	probably damaging	Het
Chrna9	A	T	5: 66,125,235 (GRCm39)	T59S	possibly damaging	Het
Cog3	T	A	14: 75,979,767 (GRCm39)		probably benign	Het
Cpa1	G	A	6: 30,641,856 (GRCm39)	V227I	probably benign	Het
Cyp3a25	A	T	5: 145,935,323 (GRCm39)	C98S	probably damaging	Het
D8Ertd738e	C	T	8: 84,976,230 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,447,575 (GRCm39)		probably benign	Het
Dhx16	T	C	17: 36,193,942 (GRCm39)		probably null	Het
Dnah9	T	A	11: 65,975,615 (GRCm39)	Q1478L	possibly damaging	Het
Dock10	T	C	1: 80,501,787 (GRCm39)	Y1434C	possibly damaging	Het
Enpp3	T	A	10: 24,680,334 (GRCm39)	D325V	probably damaging	Het
Entpd6	C	A	2: 150,602,090 (GRCm39)	T194K	possibly damaging	Het
Fat2	A	T	11: 55,161,175 (GRCm39)	V3185E	probably benign	Het
Flrt1	A	G	19: 7,073,284 (GRCm39)	L421P	probably benign	Het
Fmn2	A	T	1: 174,521,844 (GRCm39)	Q1292L	probably damaging	Het
Fndc1	T	C	17: 7,972,555 (GRCm39)	D1459G	probably damaging	Het
Fndc1	T	C	17: 7,994,420 (GRCm39)		probably null	Het
Fzr1	A	G	10: 81,205,202 (GRCm39)	S265P	possibly damaging	Het
Gpr142	G	A	11: 114,696,855 (GRCm39)	V134M	probably damaging	Het
Grid2ip	G	T	5: 143,343,375 (GRCm39)	V24L	possibly damaging	Het
Herc2	G	A	7: 55,809,165 (GRCm39)	R2555H	probably damaging	Het
Hpdl	A	T	4: 116,677,676 (GRCm39)	Y262N	possibly damaging	Het
Htr3a	A	G	9: 48,819,959 (GRCm39)	V57A	probably damaging	Het
Igfbp7	T	C	5: 77,503,438 (GRCm39)	I186V	probably benign	Het
Itga2b	C	T	11: 102,358,152 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,014,009 (GRCm39)	D736A	possibly damaging	Het
Itpkc	T	A	7: 26,907,770 (GRCm39)	M645L	probably benign	Het
Jchain	T	C	5: 88,669,237 (GRCm39)	R139G	probably benign	Het
Kif13a	A	G	13: 46,944,877 (GRCm39)	V908A	probably damaging	Het
Kif1b	T	A	4: 149,266,424 (GRCm39)	K389*	probably null	Het
Klhl12	T	C	1: 134,413,594 (GRCm39)	Y360H	possibly damaging	Het
Knop1	G	A	7: 118,452,276 (GRCm39)	R148W	probably damaging	Het
Lpar1	T	A	4: 58,487,191 (GRCm39)	N27Y	probably damaging	Het
Lpar2	T	A	8: 70,276,802 (GRCm39)	V197D	probably damaging	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Lum	G	T	10: 97,407,905 (GRCm39)	V337F	probably benign	Het
Mag	T	C	7: 30,606,405 (GRCm39)	D344G	probably damaging	Het
Maip1	G	A	1: 57,446,355 (GRCm39)	A142T	probably benign	Het
Mlh3	A	G	12: 85,315,742 (GRCm39)	V148A	possibly damaging	Het
Nav3	A	G	10: 109,602,964 (GRCm39)	V1195A	probably damaging	Het
Ncor2	A	G	5: 125,110,401 (GRCm39)	S868P	possibly damaging	Het
Nek1	A	G	8: 61,559,889 (GRCm39)	E907G	probably damaging	Het
Nfam1	G	A	15: 82,900,580 (GRCm39)	T134I	probably benign	Het
Nr0b2	T	C	4: 133,281,070 (GRCm39)	V112A	probably damaging	Het
Nrp1	A	G	8: 129,184,450 (GRCm39)	N365S	probably damaging	Het
Nrsn2	T	C	2: 152,211,710 (GRCm39)	Y107C	probably damaging	Het
Ntng1	G	A	3: 109,841,927 (GRCm39)	A282V	probably damaging	Het
Nxf1	T	C	19: 8,742,392 (GRCm39)	I337T	probably damaging	Het
Obscn	C	T	11: 58,967,366 (GRCm39)	G479D	probably damaging	Het
Oprd1	T	A	4: 131,841,079 (GRCm39)	D293V	probably benign	Het
Or13a17	T	C	7: 140,271,222 (GRCm39)	S135P	possibly damaging	Het
P3h2	T	G	16: 25,788,700 (GRCm39)	N586H	possibly damaging	Het
Pcid2	T	C	8: 13,135,367 (GRCm39)	Y214C	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Ppic	C	A	18: 53,544,143 (GRCm39)	G81W	probably damaging	Het
Ppp2r1a	C	A	17: 21,177,303 (GRCm39)	P246T	probably damaging	Het
Ppp4r4	T	G	12: 103,550,361 (GRCm39)	S46A	probably benign	Het
Pramel31	A	G	4: 144,089,216 (GRCm39)	N178S	probably benign	Het
Prkce	A	G	17: 86,476,081 (GRCm39)	T21A	probably damaging	Het
Prkg2	T	C	5: 99,142,504 (GRCm39)	E210G	possibly damaging	Het
Prss35	A	G	9: 86,638,090 (GRCm39)	M287V	probably damaging	Het
Psd	G	A	19: 46,309,411 (GRCm39)		probably benign	Het
Ptch2	A	T	4: 116,968,036 (GRCm39)	K843*	probably null	Het
Rab44	C	A	17: 29,364,235 (GRCm39)	T603K	probably damaging	Het
Rasal3	T	A	17: 32,611,764 (GRCm39)		probably null	Het
Rbbp6	A	G	7: 122,591,519 (GRCm39)	T526A	probably damaging	Het
Ros1	A	T	10: 52,019,534 (GRCm39)		probably benign	Het
Sec24b	T	A	3: 129,783,325 (GRCm39)	L1104F	possibly damaging	Het
Sec24b	A	G	3: 129,793,183 (GRCm39)	S685P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setmar	A	T	6: 108,052,923 (GRCm39)	H139L	probably benign	Het
Slc28a2b	T	C	2: 122,352,335 (GRCm39)	L364S	probably damaging	Het
Slc4a7	T	C	14: 14,766,808 (GRCm38)	V710A	probably benign	Het
Smarcc1	T	A	9: 110,066,876 (GRCm39)		probably null	Het
Smchd1	G	A	17: 71,701,897 (GRCm39)	L1032F	probably damaging	Het
Speg	T	C	1: 75,407,428 (GRCm39)		probably benign	Het
Tasor2	A	T	13: 3,632,052 (GRCm39)	Y816*	probably null	Het
Tcea1	C	G	1: 4,959,726 (GRCm39)	R134G	probably benign	Het
Tchhl1	C	T	3: 93,378,336 (GRCm39)	Q347*	probably null	Het
Tecrl	A	T	5: 83,502,605 (GRCm39)		probably benign	Het
Tepsin	T	C	11: 119,984,508 (GRCm39)		probably benign	Het
Tmem40	G	A	6: 115,710,946 (GRCm39)		probably benign	Het
Tpr	G	A	1: 150,283,165 (GRCm39)		probably benign	Het
Ttll12	A	T	15: 83,464,859 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,739,952 (GRCm39)	D3529V	probably benign	Het
Usp34	T	A	11: 23,283,838 (GRCm39)	H177Q	possibly damaging	Het
Vsig10	T	A	5: 117,476,526 (GRCm39)	S327T	probably benign	Het
Zbtb4	T	A	11: 69,668,465 (GRCm39)	M396K	probably damaging	Het
Zfp352	C	T	4: 90,113,246 (GRCm39)	T462I	possibly damaging	Het
Zfp385b	T	C	2: 77,307,189 (GRCm39)	M145V	probably damaging	Het
Zfp780b	C	A	7: 27,671,114 (GRCm39)	V65F	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
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'- CCCATCATTGATCCACAGACTTGTGAA -3'
(R):5'- GCTTTCTCAGCCAAGGACACACAT -3'

Sequencing Primer
(F):5'- TTATAAACGTCCAACCTTCAGACTTC -3'
(R):5'- GCCAAGGACACACATAGAGAC -3'

Posted On

2013-05-09