Mutagenetix > Incidental Mutation

Incidental Mutation 'R9508:Cbll1'

717957

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 #

R9508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31534828-31549615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31544685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 26 (I26N)

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: I26N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063266
Gene: ENSMUSG00000020659
AA Change: I26N

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: I26N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082616
Gene: ENSMUSG00000020659
AA Change: I26N

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: I26N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099038
Gene: ENSMUSG00000020659
AA Change: I26N

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: I26N

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: I26N

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

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,617,484 (GRCm39)	V536I		Het
Adam18	A	G	8: 25,143,778 (GRCm39)	I187T	possibly damaging	Het
Adam24	A	G	8: 41,132,941 (GRCm39)	I136M	probably benign	Het
B3galt2	A	T	1: 143,522,280 (GRCm39)	I139F	possibly damaging	Het
Cacna1i	C	T	15: 80,279,372 (GRCm39)	P2038S	probably benign	Het
Cldn1	A	T	16: 26,179,619 (GRCm39)	Y149*	probably null	Het
Cnot11	T	C	1: 39,581,575 (GRCm39)	V372A	probably damaging	Het
Cnot2	A	G	10: 116,329,616 (GRCm39)	L458P	probably damaging	Het
Cnot4	T	C	6: 35,045,554 (GRCm39)	E219G		Het
Col8a1	T	G	16: 57,448,947 (GRCm39)	I188L	unknown	Het
Daam2	T	C	17: 49,765,618 (GRCm39)	K1095R	probably damaging	Het
Dnah9	T	C	11: 65,725,089 (GRCm39)	T4355A	probably damaging	Het
Dsg4	A	G	18: 20,604,070 (GRCm39)	I846V	probably damaging	Het
Ehd4	C	T	2: 119,921,966 (GRCm39)	G430E	probably damaging	Het
Fanci	T	C	7: 79,083,033 (GRCm39)	Y670H	possibly damaging	Het
Galnt10	T	A	11: 57,673,040 (GRCm39)	N465K	possibly damaging	Het
Glipr1l1	A	G	10: 111,912,015 (GRCm39)	N183S	probably damaging	Het
Gnl1	T	C	17: 36,299,625 (GRCm39)	Y599H	possibly damaging	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Grk2	A	T	19: 4,341,636 (GRCm39)	N179K	probably damaging	Het
Igf2bp2	T	A	16: 21,898,845 (GRCm39)	M255L	probably benign	Het
Ighv2-6	T	C	12: 113,680,430 (GRCm39)	I70M	probably benign	Het
Igkv4-74	T	A	6: 69,161,942 (GRCm39)	N76Y	probably damaging	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank2	A	T	9: 21,687,076 (GRCm39)	L582Q	probably damaging	Het
Kmt2b	T	C	7: 30,269,259 (GRCm39)	T2554A	probably damaging	Het
Mecom	T	A	3: 30,010,621 (GRCm39)	Y619F	probably benign	Het
Mknk1	A	G	4: 115,732,579 (GRCm39)	N269S	probably benign	Het
Mpp2	T	A	11: 101,951,692 (GRCm39)	E435D	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or2f2	A	G	6: 42,767,928 (GRCm39)	*318W	probably null	Het
Or5g9	A	G	2: 85,552,165 (GRCm39)	R139G	possibly damaging	Het
Or7a41	A	T	10: 78,870,933 (GRCm39)	Q101L	probably damaging	Het
P3h3	A	G	6: 124,830,012 (GRCm39)		probably null	Het
Paqr5	C	T	9: 61,880,079 (GRCm39)	V72M	probably benign	Het
Pilrb2	G	A	5: 137,869,261 (GRCm39)	T113I	probably damaging	Het
Pitpnm3	T	C	11: 72,003,121 (GRCm39)	E63G	probably damaging	Het
Ppp4r4	G	A	12: 103,542,561 (GRCm39)	V108M	possibly damaging	Het
Ptprf	G	T	4: 118,126,776 (GRCm39)	S46*	probably null	Het
Rab2a	T	C	4: 8,582,447 (GRCm39)	L143P		Het
Rassf7	C	T	7: 140,796,924 (GRCm39)	R46*	probably null	Het
Sec23a	T	C	12: 59,036,185 (GRCm39)	D393G	probably benign	Het
Semp2l2b	A	G	10: 21,942,816 (GRCm39)	V388A	probably damaging	Het
Serpinb9f	T	A	13: 33,518,515 (GRCm39)	F338L	probably benign	Het
Spg7	T	C	8: 123,800,623 (GRCm39)	V66A	probably damaging	Het
Sult2a4	C	T	7: 13,723,437 (GRCm39)	R27H	probably benign	Het
Sumo2	A	C	11: 115,414,538 (GRCm39)	Y95D	possibly damaging	Het
Tbx18	G	A	9: 87,587,926 (GRCm39)	S397F	probably damaging	Het
Ticam2	G	C	18: 46,693,748 (GRCm39)	P113R	probably damaging	Het
Timeless	A	G	10: 128,076,096 (GRCm39)	S63G	probably benign	Het
Tinag	C	T	9: 76,912,981 (GRCm39)	C276Y	probably damaging	Het
Tmem143	A	T	7: 45,565,630 (GRCm39)	K364*	probably null	Het
Tmem160	A	G	7: 16,186,840 (GRCm39)		probably benign	Het
Tmod4	G	C	3: 95,034,713 (GRCm39)	E154Q	probably benign	Het
Trpv1	G	T	11: 73,145,090 (GRCm39)	K725N		Het
Ttn	G	T	2: 76,715,978 (GRCm39)	A7767D	unknown	Het
Tubd1	T	A	11: 86,448,640 (GRCm39)	Y318N	probably damaging	Het
Ufd1	T	A	16: 18,643,802 (GRCm39)	M187K	possibly damaging	Het
Unc5c	A	G	3: 141,494,736 (GRCm39)	N424D	possibly damaging	Het
Usp19	C	T	9: 108,371,608 (GRCm39)	S329L	probably damaging	Het
Vps16	T	A	2: 130,284,361 (GRCm39)	I704N	possibly damaging	Het
Vwf	A	T	6: 125,532,471 (GRCm39)	I72F		Het
Ypel4	T	C	2: 84,567,304 (GRCm39)	S46P	probably damaging	Het
Zcchc8	A	C	5: 123,842,584 (GRCm39)		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
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
X0028:Cbll1	UTSW	12	31,538,308 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGATGGATTACTTGATACACTCAG -3'
(R):5'- TAGCAGTTACACTTACCAGTCTAG -3'

Sequencing Primer
(F):5'- CCTGCATGTATGACTACGTGAG -3'
(R):5'- CAGAGCCAAGATCTTCAGTTTATTG -3'

Posted On

2022-07-18