Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Cbll1'

392437

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

042690-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31534828-31549615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31537912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 280 (T280N)

Ref Sequence

ENSEMBL: ENSMUSP00000141007 (fasta)

Gene Model

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

AlphaFold

Q9JIY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064240
AA Change: T278N

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000063266
Gene: ENSMUSG00000020659
AA Change: T278N

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: T281N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082616
Gene: ENSMUSG00000020659
AA Change: T281N

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

possibly damaging
Transcript: ENSMUST00000101499
AA Change: T281N

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099038
Gene: ENSMUSG00000020659
AA Change: T281N

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

probably damaging
Transcript: ENSMUST00000185739
AA Change: T280N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141007
Gene: ENSMUSG00000020659
AA Change: T280N

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

noncoding transcript
Transcript: ENSMUST00000186876

Predicted Effect

probably benign
Transcript: ENSMUST00000188326

SMART Domains

Protein: ENSMUSP00000139809
Gene: ENSMUSG00000020659

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	T	1: 58,279,937 (GRCm39)	R518C	probably damaging	Het
Apbb2	A	T	5: 66,469,592 (GRCm39)		probably null	Het
Arhgap45	C	T	10: 79,857,262 (GRCm39)	P254S	probably benign	Het
Arl4c	T	C	1: 88,629,322 (GRCm39)	D22G	probably damaging	Het
Asxl1	A	G	2: 153,242,875 (GRCm39)	T1142A	probably benign	Het
BC035044	T	C	6: 128,861,949 (GRCm39)		probably benign	Het
Bmp4	T	C	14: 46,621,458 (GRCm39)	N362S	probably damaging	Het
Cdh10	A	T	15: 18,986,971 (GRCm39)	T401S	probably benign	Het
Cmklr2	A	G	1: 63,222,326 (GRCm39)	V303A	probably damaging	Het
Cps1	A	T	1: 67,245,952 (GRCm39)	M1148L	probably benign	Het
Crybg1	T	C	10: 43,873,832 (GRCm39)	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,460,126 (GRCm39)	S173P	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,793 (GRCm39)	I319F	unknown	Het
Dchs1	A	T	7: 105,421,384 (GRCm39)	H345Q	probably benign	Het
Ddx50	A	T	10: 62,476,640 (GRCm39)	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Dnajb5	G	A	4: 42,956,639 (GRCm39)	D109N	possibly damaging	Het
Dner	A	T	1: 84,383,691 (GRCm39)	N564K	probably damaging	Het
Fam234b	T	C	6: 135,186,282 (GRCm39)	S97P	probably benign	Het
Fam53b	G	A	7: 132,317,684 (GRCm39)	R60*	probably null	Het
Fmo3	T	G	1: 162,791,546 (GRCm39)	K244Q	probably benign	Het
Golim4	A	G	3: 75,810,579 (GRCm39)	I192T	possibly damaging	Het
Gprin1	T	C	13: 54,887,576 (GRCm39)	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,310,626 (GRCm39)	V443D	probably damaging	Het
Hmgcs2	T	C	3: 98,187,786 (GRCm39)		probably benign	Het
Ide	T	A	19: 37,292,383 (GRCm39)	I271L	unknown	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif14	A	G	1: 136,444,141 (GRCm39)	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Lhx6	T	C	2: 35,984,222 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,319,502 (GRCm39)	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,709,304 (GRCm39)	K142R	probably damaging	Het
Macroh2a1	C	G	13: 56,243,936 (GRCm39)		probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Mtrfr	A	G	5: 124,476,954 (GRCm39)	N83D	probably damaging	Het
Nacad	T	A	11: 6,548,528 (GRCm39)	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,535,539 (GRCm39)	I275T	possibly damaging	Het
Neb	A	C	2: 52,116,582 (GRCm39)	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,712,934 (GRCm39)	A83V	probably damaging	Het
Nos3	A	G	5: 24,576,625 (GRCm39)	D418G	probably damaging	Het
Or12e7	A	T	2: 87,288,138 (GRCm39)	M210L	probably benign	Het
Or1n1b	T	A	2: 36,780,056 (GRCm39)	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,604,313 (GRCm39)	T764A	probably damaging	Het
Plppr3	G	T	10: 79,701,220 (GRCm39)	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,637,771 (GRCm39)	I191T	possibly damaging	Het
Pramel18	T	C	4: 101,766,436 (GRCm39)	F40S	probably damaging	Het
Rab11fip1	T	C	8: 27,646,402 (GRCm39)	K225E	probably damaging	Het
Rara	A	T	11: 98,857,185 (GRCm39)	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,126,754 (GRCm39)	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,070,408 (GRCm39)	F399V	probably benign	Het
Slc7a4	T	C	16: 17,393,482 (GRCm39)	T106A	probably damaging	Het
Srcap	G	A	7: 127,129,795 (GRCm39)	G539D	probably damaging	Het
Stab1	C	T	14: 30,869,974 (GRCm39)		probably null	Het
Zfp267	G	A	3: 36,216,814 (GRCm39)	C55Y	possibly 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
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
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'- AGCTTGGCTATATACCAAGTGAGG -3'
(R):5'- ATCGGTTCATAATGCCACCAG -3'

Sequencing Primer
(F):5'- TTGGCTATATACCAAGTGAGGAGTAC -3'
(R):5'- GACAAGCATCATATGAGCCATATTC -3'

Posted On

2016-06-15