Mutagenetix > Incidental Mutation

Incidental Mutation 'R6882:Cbll1'

536741

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

044977-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R6882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31534828-31549615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31537484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 424 (Y424H)

Ref Sequence

ENSEMBL: ENSMUSP00000099038 (fasta)

Gene Model

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

AlphaFold

Q9JIY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000064240
AA Change: Y421H

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

SMART Domains

Protein: ENSMUSP00000063266
Gene: ENSMUSG00000020659
AA Change: Y421H

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 benign
Transcript: ENSMUST00000085487
AA Change: Y349H

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000082616
Gene: ENSMUSG00000020659
AA Change: Y349H

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 damaging
Transcript: ENSMUST00000101499
AA Change: Y424H

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

SMART Domains

Protein: ENSMUSP00000099038
Gene: ENSMUSG00000020659
AA Change: Y424H

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

possibly damaging
Transcript: ENSMUST00000185739
AA Change: Y423H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141007
Gene: ENSMUSG00000020659
AA Change: Y423H

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

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 71,003,125 (GRCm39)	E238G	probably benign	Het
Adgrf5	T	A	17: 43,761,271 (GRCm39)	C989S	probably damaging	Het
Ank2	T	G	3: 126,739,406 (GRCm39)		probably benign	Het
C2cd6	T	C	1: 59,105,318 (GRCm39)	D320G	probably damaging	Het
Cacnb2	T	A	2: 14,829,110 (GRCm39)	I15N	probably benign	Het
Cage1	T	A	13: 38,206,534 (GRCm39)	Q437L	probably damaging	Het
Capn15	G	T	17: 26,179,153 (GRCm39)		probably null	Het
Ccdc166	T	C	15: 75,853,466 (GRCm39)	H167R	possibly damaging	Het
Ccdc7a	T	C	8: 129,523,809 (GRCm39)		probably benign	Het
Cdkl4	T	A	17: 80,851,175 (GRCm39)	T176S	probably damaging	Het
Cnot1	T	C	8: 96,447,054 (GRCm39)	E2321G	possibly damaging	Het
Col6a5	G	A	9: 105,817,469 (GRCm39)	Q281*	probably null	Het
Csmd2	A	G	4: 128,343,062 (GRCm39)	T1485A	probably benign	Het
Dmxl1	A	G	18: 49,976,851 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,570,407 (GRCm39)	I2271T	possibly damaging	Het
Elavl2	A	G	4: 91,196,952 (GRCm39)	I42T	probably damaging	Het
Epn3	C	T	11: 94,382,186 (GRCm39)	A568T	probably benign	Het
Etv3	T	C	3: 87,436,577 (GRCm39)	F111L	probably damaging	Het
Fnip1	A	G	11: 54,400,724 (GRCm39)	E1041G	probably damaging	Het
Fosl2	T	C	5: 32,310,208 (GRCm39)	V219A	possibly damaging	Het
Foxj2	T	A	6: 122,805,464 (GRCm39)		probably null	Het
Gm8947	G	A	1: 151,068,880 (GRCm39)	A238T	possibly damaging	Het
Golgb1	C	A	16: 36,734,352 (GRCm39)	Q1200K	probably benign	Het
Igkv4-55	A	G	6: 69,584,289 (GRCm39)	Y108H	probably damaging	Het
Iglc1	G	A	16: 18,880,599 (GRCm39)		probably benign	Het
Ints13	G	T	6: 146,464,939 (GRCm39)	R221S	probably null	Het
Ipo11	T	C	13: 107,037,190 (GRCm39)		probably null	Het
Kcnn2	A	T	18: 45,692,505 (GRCm39)	H27L	possibly damaging	Het
Kcns3	C	T	12: 11,142,049 (GRCm39)	V217M	probably benign	Het
Klra9	A	T	6: 130,155,985 (GRCm39)	C257S	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lmbr1l	A	G	15: 98,805,467 (GRCm39)	F345L	probably damaging	Het
Lrrc18	A	C	14: 32,730,646 (GRCm39)	I62L	probably benign	Het
Mr1	A	G	1: 155,008,199 (GRCm39)	W259R	possibly damaging	Het
Myo15a	G	A	11: 60,414,832 (GRCm39)	R3325H	probably damaging	Het
Nid2	A	G	14: 19,839,775 (GRCm39)	D788G	probably damaging	Het
Or2y1c	A	T	11: 49,361,290 (GRCm39)	Y104F	probably benign	Het
Or5an10	C	A	19: 12,275,934 (GRCm39)	Q187H	probably damaging	Het
Or5h24	A	T	16: 58,918,990 (GRCm39)	C122S	unknown	Het
Or6d12	T	C	6: 116,493,395 (GRCm39)	V219A	probably benign	Het
Pbld1	T	C	10: 62,897,241 (GRCm39)	L11P	probably benign	Het
Pcnt	T	C	10: 76,263,662 (GRCm39)	E434G	probably benign	Het
Prg4	G	A	1: 150,329,246 (GRCm39)	T174M	probably damaging	Het
Prkdc	G	A	16: 15,601,127 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,626,020 (GRCm39)	S3349T	probably benign	Het
Prpf38a	C	A	4: 108,427,365 (GRCm39)	E199D	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Rhbg	T	A	3: 88,152,527 (GRCm39)	H339L	probably damaging	Het
Rnf183	A	G	4: 62,346,261 (GRCm39)	I179T	probably benign	Het
Sh3bp5l	G	T	11: 58,222,525 (GRCm39)	A7S	probably benign	Het
Slc12a3	T	A	8: 95,092,546 (GRCm39)	I989N	possibly damaging	Het
Sycp3	C	T	10: 88,308,791 (GRCm39)	R246*	probably null	Het
Tmprss11b	T	A	5: 86,819,530 (GRCm39)		probably null	Het
Tmx4	T	C	2: 134,485,922 (GRCm39)	T2A	possibly damaging	Het
Tnfsf10	T	C	3: 27,380,182 (GRCm39)	L82S	possibly damaging	Het
Tnni3k	T	A	3: 154,663,357 (GRCm39)	I332F	possibly damaging	Het
Ttn	T	A	2: 76,644,539 (GRCm39)	T13072S	probably benign	Het
Vmn2r1	A	T	3: 63,997,529 (GRCm39)	Y395F	possibly damaging	Het
Zbbx	A	G	3: 74,979,019 (GRCm39)	V476A	probably benign	Het
Zfp341	T	C	2: 154,479,943 (GRCm39)	C465R	probably damaging	Het
Zfp398	A	G	6: 47,843,016 (GRCm39)	D224G	probably damaging	Het
Zfp407	G	T	18: 84,361,194 (GRCm39)		probably null	Het
Zfp52	T	C	17: 21,775,309 (GRCm39)	M1T	probably null	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
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'- CACTATGATCACTGGTAATACGGTC -3'
(R):5'- TGCAGGTACTCCTCACTTGG -3'

Sequencing Primer
(F):5'- GATCACTGGTAATACGGTCTGTATC -3'
(R):5'- GCAGGTACTCCTCACTTGGTATATAG -3'

Posted On

2018-10-18