Mutagenetix > Incidental Mutation

Incidental Mutation 'R8235:Cbll1'

637323

Institutional Source

Beutler Lab

Gene Symbol

Cbll1

Ensembl Gene

ENSMUSG00000020659

Gene Name

Casitas B-lineage lymphoma-like 1

Synonyms

c-Cbl-like, Hakai

MMRRC Submission

067667-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R8235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31534828-31549615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31541570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 103 (D103N)

Ref Sequence

ENSEMBL: ENSMUSP00000099038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064240] [ENSMUST00000085487] [ENSMUST00000101499] [ENSMUST00000185739] [ENSMUST00000188326]

AlphaFold

Q9JIY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064240
AA Change: D99N

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063266
Gene: ENSMUSG00000020659
AA Change: D99N

Domain	Start	End	E-Value	Type
RING	105	144	1.08e-1	SMART
ZnF_C2H2	160	186	5.92e0	SMART
low complexity region	203	214	N/A	INTRINSIC
low complexity region	227	240	N/A	INTRINSIC
low complexity region	258	270	N/A	INTRINSIC
low complexity region	292	315	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085487
AA Change: D103N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082616
Gene: ENSMUSG00000020659
AA Change: D103N

Domain	Start	End	E-Value	Type
RING	109	148	1.08e-1	SMART
ZnF_C2H2	164	190	5.92e0	SMART
low complexity region	207	218	N/A	INTRINSIC
low complexity region	231	244	N/A	INTRINSIC
low complexity region	262	274	N/A	INTRINSIC
low complexity region	308	325	N/A	INTRINSIC
low complexity region	376	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101499
AA Change: D103N

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099038
Gene: ENSMUSG00000020659
AA Change: D103N

Domain	Start	End	E-Value	Type
RING	109	148	5.3e-4	SMART
ZnF_C2H2	164	190	2.5e-2	SMART
low complexity region	207	218	N/A	INTRINSIC
low complexity region	231	244	N/A	INTRINSIC
low complexity region	262	274	N/A	INTRINSIC
low complexity region	308	320	N/A	INTRINSIC
low complexity region	336	360	N/A	INTRINSIC
low complexity region	372	388	N/A	INTRINSIC
low complexity region	393	426	N/A	INTRINSIC
low complexity region	451	474	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000141007
Gene: ENSMUSG00000020659
AA Change: D102N

Domain	Start	End	E-Value	Type
RING	108	147	5.2e-4	SMART
ZnF_C2H2	163	189	2.5e-2	SMART
low complexity region	206	217	N/A	INTRINSIC
low complexity region	230	243	N/A	INTRINSIC
low complexity region	261	273	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000139809
Gene: ENSMUSG00000020659
AA Change: D100N

Domain	Start	End	E-Value	Type
RING	106	145	5.2e-4	SMART
ZnF_C2H2	161	187	2.5e-2	SMART
low complexity region	204	215	N/A	INTRINSIC
low complexity region	228	241	N/A	INTRINSIC
low complexity region	259	271	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,212,077 (GRCm39)	Q279H	probably damaging	Het
Abhd13	G	A	8: 10,037,394 (GRCm39)		probably benign	Het
Atp8b3	T	C	10: 80,365,650 (GRCm39)	N368S	probably damaging	Het
Bptf	A	G	11: 106,967,458 (GRCm39)	M1089T	probably benign	Het
Ccnd2	T	C	6: 127,107,305 (GRCm39)	D288G	probably benign	Het
Chek1	T	A	9: 36,630,870 (GRCm39)	R181S	probably benign	Het
Chrna7	T	C	7: 62,861,972 (GRCm39)	R27G	probably damaging	Het
Crybb1	A	G	5: 112,405,266 (GRCm39)	K6R	probably damaging	Het
Ehbp1	G	A	11: 22,189,153 (GRCm39)	T83M	probably damaging	Het
Entpd7	G	A	19: 43,705,984 (GRCm39)	E269K	probably damaging	Het
Eps8	A	G	6: 137,460,576 (GRCm39)	V729A	possibly damaging	Het
Farsa	A	G	8: 85,595,545 (GRCm39)	H480R	probably damaging	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Hpn	T	C	7: 30,802,208 (GRCm39)	T228A	possibly damaging	Het
Lyst	T	A	13: 13,935,323 (GRCm39)	H3597Q	possibly damaging	Het
Map3k4	A	T	17: 12,458,968 (GRCm39)		probably null	Het
Msto1	A	T	3: 88,820,228 (GRCm39)	L89Q	probably damaging	Het
Mycbp2	T	C	14: 103,436,110 (GRCm39)	E2185G	probably damaging	Het
Myh2	A	G	11: 67,083,824 (GRCm39)	E1534G	probably damaging	Het
Nfkbia	T	C	12: 55,537,608 (GRCm39)	Y195C	probably damaging	Het
Npr2	T	A	4: 43,641,603 (GRCm39)	M469K	probably benign	Het
Nwd1	TCATCC	TCATCCATCC	8: 73,438,314 (GRCm39)		probably null	Het
Or8i2	T	C	2: 86,852,226 (GRCm39)	I221V	probably benign	Het
Potefam3e	C	A	8: 19,799,476 (GRCm39)	T308N	probably benign	Het
Prdm2	G	A	4: 142,859,037 (GRCm39)	Q1418*	probably null	Het
Ptk2	T	C	15: 73,215,140 (GRCm39)	T13A	probably benign	Het
Ptprk	T	A	10: 28,465,037 (GRCm39)	N1292K	possibly damaging	Het
Ptprq	A	C	10: 107,418,402 (GRCm39)	V1658G	probably damaging	Het
Ptprq	A	T	10: 107,541,351 (GRCm39)	F392I	probably benign	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rsf1	T	C	7: 97,325,461 (GRCm39)		probably benign	Het
Samd4b	C	T	7: 28,106,031 (GRCm39)	V396I	probably benign	Het
Spta1	T	A	1: 174,029,952 (GRCm39)	L906Q	probably damaging	Het
Sytl1	T	C	4: 132,988,257 (GRCm39)	D33G	probably damaging	Het
Trmt10c	T	C	16: 55,854,939 (GRCm39)	N232S	probably benign	Het
Trpc4	G	A	3: 54,209,669 (GRCm39)	C678Y	probably benign	Het
Tulp3	T	C	6: 128,304,640 (GRCm39)	N205D	probably benign	Het
Ufl1	T	C	4: 25,278,656 (GRCm39)	I100V	probably benign	Het
Unc45b	A	G	11: 82,810,681 (GRCm39)	I314V	probably benign	Het
Vegfa	A	T	17: 46,342,236 (GRCm39)	L194Q	possibly damaging	Het
Vps13c	T	C	9: 67,834,678 (GRCm39)	F1669S	probably damaging	Het
Vps13c	T	A	9: 67,863,063 (GRCm39)	H3026Q	probably benign	Het
Zfp184	T	G	13: 22,144,053 (GRCm39)	I586M	probably damaging	Het

Other mutations in Cbll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Cbll1	APN	12	31,537,832 (GRCm39)	missense	probably damaging	0.99
IGL00540:Cbll1	APN	12	31,537,940 (GRCm39)	missense	probably damaging	1.00
IGL02988:Cbll1	UTSW	12	31,542,171 (GRCm39)	missense	possibly damaging	0.86
R0398:Cbll1	UTSW	12	31,542,091 (GRCm39)	missense	probably damaging	0.99
R0573:Cbll1	UTSW	12	31,540,539 (GRCm39)	missense	probably damaging	1.00
R1536:Cbll1	UTSW	12	31,537,855 (GRCm39)	missense	probably damaging	1.00
R5102:Cbll1	UTSW	12	31,537,912 (GRCm39)	missense	probably damaging	1.00
R6267:Cbll1	UTSW	12	31,537,507 (GRCm39)	missense	probably benign	0.00
R6296:Cbll1	UTSW	12	31,537,507 (GRCm39)	missense	probably benign	0.00
R6304:Cbll1	UTSW	12	31,544,588 (GRCm39)	critical splice donor site	probably null
R6882:Cbll1	UTSW	12	31,537,484 (GRCm39)	missense	probably damaging	1.00
R7751:Cbll1	UTSW	12	31,537,579 (GRCm39)	missense	probably damaging	0.99
R8963:Cbll1	UTSW	12	31,538,199 (GRCm39)	missense	probably damaging	1.00
R9388:Cbll1	UTSW	12	31,541,567 (GRCm39)	missense	probably benign	0.09
R9508:Cbll1	UTSW	12	31,544,685 (GRCm39)	missense	probably damaging	0.99
X0028:Cbll1	UTSW	12	31,538,308 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAATGCTAAAATAGTCCCTGCAAG -3'
(R):5'- CACACATAAGTCCACTTGCTTG -3'

Sequencing Primer
(F):5'- TAGTCCCTGCAAGTAAAAAGCTCCTG -3'
(R):5'- ATTTCTGAGTTCCAGGACAGCCAG -3'

Posted On

2020-07-13