Mutagenetix > Incidental Mutation

Incidental Mutation 'R9388:Cbll1'

710447

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R9388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31534828-31549615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31541567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 104 (T104A)

Ref Sequence

ENSEMBL: ENSMUSP00000099038 (fasta)

Gene Model

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

AlphaFold

Q9JIY2

Predicted Effect

probably benign
Transcript: ENSMUST00000064240
AA Change: T101A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000063266
Gene: ENSMUSG00000020659
AA Change: T101A

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

possibly damaging
Transcript: ENSMUST00000085487
AA Change: T104A

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082616
Gene: ENSMUSG00000020659
AA Change: T104A

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: T104A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099038
Gene: ENSMUSG00000020659
AA Change: T104A

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: T103A

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: T100A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,338,714 (GRCm39)	T433S	probably benign	Het
Abca14	A	G	7: 119,882,261 (GRCm39)	D1141G	probably benign	Het
Abca17	A	G	17: 24,483,273 (GRCm39)	S1728P	unknown	Het
Adam29	A	C	8: 56,325,285 (GRCm39)	C390G	probably damaging	Het
Angptl4	G	A	17: 33,996,158 (GRCm39)	R273*	probably null	Het
Arfgef3	T	C	10: 18,505,877 (GRCm39)	N929S	probably benign	Het
Baiap3	A	G	17: 25,466,109 (GRCm39)		probably null	Het
Btla	T	C	16: 45,059,454 (GRCm39)	S53P	probably damaging	Het
Cand1	A	G	10: 119,047,213 (GRCm39)	F759S	possibly damaging	Het
Chd7	A	G	4: 8,865,756 (GRCm39)	M2688V	possibly damaging	Het
Cnot3	C	A	7: 3,661,367 (GRCm39)	H625Q	possibly damaging	Het
Dbn1	T	C	13: 55,624,088 (GRCm39)	I381V	probably benign	Het
Dennd2d	T	A	3: 106,395,915 (GRCm39)	N135K	possibly damaging	Het
Dnah7c	T	C	1: 46,779,886 (GRCm39)	I3196T	probably damaging	Het
Dock2	C	A	11: 34,212,460 (GRCm39)	R1227L	possibly damaging	Het
Esr1	A	G	10: 4,919,179 (GRCm39)	E423G	probably benign	Het
Ganab	A	G	19: 8,892,302 (GRCm39)	Q826R	probably damaging	Het
Herc4	T	A	10: 63,143,522 (GRCm39)	M684K	probably benign	Het
Hipk2	A	G	6: 38,707,956 (GRCm39)	L613P	probably damaging	Het
Hpf1	A	T	8: 61,353,182 (GRCm39)	I188L	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Kif1a	C	A	1: 93,000,029 (GRCm39)		probably null	Het
Kng1	A	T	16: 22,898,388 (GRCm39)	Y596F	possibly damaging	Het
Lrrc8d	T	A	5: 105,961,862 (GRCm39)	H757Q	probably damaging	Het
Med24	A	T	11: 98,600,893 (GRCm39)	I600N	possibly damaging	Het
Mmp10	G	A	9: 7,504,170 (GRCm39)	W203*	probably null	Het
Mnt	C	T	11: 74,727,450 (GRCm39)	A112V	probably benign	Het
Myh7b	A	T	2: 155,472,983 (GRCm39)	N1415Y	probably benign	Het
Nipal1	T	A	5: 72,825,557 (GRCm39)	*417R	probably null	Het
Nlrp4c	C	T	7: 6,069,874 (GRCm39)	Q592*	probably null	Het
Obscn	T	C	11: 58,943,489 (GRCm39)	E4220G	probably damaging	Het
Or10al7	C	T	17: 38,366,148 (GRCm39)	C103Y	probably damaging	Het
Or13a23-ps1	G	T	7: 140,118,928 (GRCm39)	C166F	unknown	Het
Or2w1b	T	C	13: 21,300,774 (GRCm39)	L304P	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,853 (GRCm39)	I460F	probably benign	Het
Prb1b	T	C	6: 132,289,437 (GRCm39)	Q129R	unknown	Het
Primpol	G	A	8: 47,034,605 (GRCm39)	T441I	possibly damaging	Het
Ptprc	A	G	1: 138,011,380 (GRCm39)	V583A	possibly damaging	Het
Rfx6	T	C	10: 51,554,117 (GRCm39)	V71A	possibly damaging	Het
Rgsl1	T	C	1: 153,693,355 (GRCm39)	I574V	probably benign	Het
Rims3	A	G	4: 120,748,552 (GRCm39)	I258V	possibly damaging	Het
Sec16b	T	C	1: 157,388,393 (GRCm39)	Y776H	probably benign	Het
Skint6	C	T	4: 113,049,838 (GRCm39)	D276N	possibly damaging	Het
Slc45a1	T	C	4: 150,727,067 (GRCm39)	D184G	probably damaging	Het
St6galnac4	A	T	2: 32,479,625 (GRCm39)	S61C	probably damaging	Het
Stab1	C	T	14: 30,876,312 (GRCm39)	V926M	probably damaging	Het
Stat1	A	T	1: 52,193,037 (GRCm39)	K642N	possibly damaging	Het
Tmprss3	A	G	17: 31,410,041 (GRCm39)	F191S	probably damaging	Het
Ube2o	T	C	11: 116,430,210 (GRCm39)	D1176G	possibly damaging	Het
Usp17ld	G	T	7: 102,900,145 (GRCm39)	N262K	probably benign	Het
Xpnpep1	T	C	19: 52,993,233 (GRCm39)	K365E	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
R8235:Cbll1	UTSW	12	31,541,570 (GRCm39)	missense	probably benign	0.33
R8963:Cbll1	UTSW	12	31,538,199 (GRCm39)	missense	probably damaging	1.00
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'- GCACACATAAGTCCACTTGCTTG -3'

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

Posted On

2022-04-18