Mutagenetix > Incidental Mutation

Incidental Mutation 'R4893:Cul3'

377369

Institutional Source

Beutler Lab

Gene Symbol

Cul3

Ensembl Gene

ENSMUSG00000004364

Gene Name

cullin 3

Synonyms

MMRRC Submission

042498-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80242640-80318197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80266567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 117 (I117T)

Ref Sequence

ENSEMBL: ENSMUSP00000131891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163119] [ENSMUST00000164108]

AlphaFold

Q9JLV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163119
AA Change: I183T

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364
AA Change: I183T

Domain	Start	End	E-Value	Type
PDB:4AP2\|B	1	389	N/A	PDB
SCOP:d1ldja2	30	382	1e-117	SMART
Blast:CULLIN	258	295	2e-15	BLAST
CULLIN	413	563	1.98e-90	SMART
Cullin_Nedd8	695	762	1.49e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164108
AA Change: I117T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364
AA Change: I117T

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	23	316	1e-101	SMART
PDB:4APF\|B	23	323	N/A	PDB
Blast:CULLIN	192	229	1e-15	BLAST
CULLIN	347	497	1.98e-90	SMART
Cullin_Nedd8	629	696	1.49e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167293

SMART Domains

Protein: ENSMUSP00000126630
Gene: ENSMUSG00000004364

Domain	Start	End	E-Value	Type
Pfam:Cullin	24	85	5.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170897

SMART Domains

Protein: ENSMUSP00000130010
Gene: ENSMUSG00000004364

Domain	Start	End	E-Value	Type
PDB:4AP2\|B	2	45	1e-24	PDB

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for a targeted null mutation accumulate cyclin E, exhibit abnormal cycling in cells of extraembryonic ectoderm and trophectoderm, reduced size, abnormal gastrulation and trophoblast cells, absence of an amnion, and death by embryonic day 7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,904 (GRCm39)	I401T	probably damaging	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Acss1	C	A	2: 150,471,786 (GRCm39)	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,405,476 (GRCm39)	D286A	probably benign	Het
Akap5	T	C	12: 76,376,743 (GRCm39)	V718A	probably damaging	Het
Ankk1	A	G	9: 49,326,983 (GRCm39)	V732A	probably benign	Het
Antxr2	T	A	5: 98,151,931 (GRCm39)	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,708,876 (GRCm39)	F1063V	probably benign	Het
Ascl5	A	T	1: 135,978,917 (GRCm39)	I126F	probably damaging	Het
Aspm	T	A	1: 139,417,577 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,867,586 (GRCm39)	S100P	probably damaging	Het
Baz2a	C	A	10: 127,959,284 (GRCm39)	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,489,212 (GRCm39)		probably benign	Het
Celsr3	C	G	9: 108,726,620 (GRCm39)	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,630,934 (GRCm39)	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,207,104 (GRCm39)	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,718,372 (GRCm39)		probably benign	Het
Cstf1	C	T	2: 172,222,444 (GRCm39)	R401C	probably damaging	Het
Dlgap3	A	G	4: 127,088,776 (GRCm39)	D124G	probably damaging	Het
Dnah12	A	G	14: 26,431,325 (GRCm39)	D381G	possibly damaging	Het
Dtna	T	C	18: 23,702,724 (GRCm39)	L85P	probably damaging	Het
Ephb2	A	G	4: 136,387,064 (GRCm39)	I722T	probably damaging	Het
Epn3	A	T	11: 94,382,822 (GRCm39)	F421I	probably damaging	Het
Fam83f	T	A	15: 80,576,156 (GRCm39)	L269H	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Gata4	G	A	14: 63,439,045 (GRCm39)	A139V	probably benign	Het
Glce	T	C	9: 61,975,777 (GRCm39)	D241G	probably benign	Het
Gm17728	A	T	17: 9,641,063 (GRCm39)	I58F	probably benign	Het
Inhba	A	T	13: 16,201,134 (GRCm39)	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,229,021 (GRCm39)	R394L	probably benign	Het
Klhl14	T	C	18: 21,690,992 (GRCm39)	Y486C	probably damaging	Het
Krt1	A	G	15: 101,758,555 (GRCm39)	I203T	probably damaging	Het
Lims2	T	C	18: 32,074,864 (GRCm39)		probably null	Het
Lrrc31	T	G	3: 30,733,446 (GRCm39)	I423L	probably benign	Het
Map7d1	C	T	4: 126,127,015 (GRCm39)	D732N	unknown	Het
Mau2	A	T	8: 70,483,290 (GRCm39)		probably null	Het
Mbtps1	G	A	8: 120,244,932 (GRCm39)	R840W	probably damaging	Het
Morn3	T	C	5: 123,175,745 (GRCm39)	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,755,582 (GRCm39)	K63E	probably damaging	Het
Muc20	T	C	16: 32,615,042 (GRCm39)	T112A	possibly damaging	Het
Myo6	T	A	9: 80,136,159 (GRCm39)	L94Q	probably damaging	Het
Nos1	C	A	5: 118,090,942 (GRCm39)	T1423K	possibly damaging	Het
Or2l13	A	G	16: 19,305,653 (GRCm39)	T22A	probably benign	Het
Or2t1	T	C	14: 14,328,852 (GRCm38)	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,429 (GRCm39)	T1114A	probably benign	Het
Pgm2	T	C	5: 64,263,283 (GRCm39)	V310A	probably benign	Het
Pi4ka	T	C	16: 17,194,900 (GRCm39)	E166G	probably benign	Het
Pign	A	T	1: 105,574,436 (GRCm39)	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,415,053 (GRCm39)	V149L	probably benign	Het
Pkd1l3	A	T	8: 110,365,026 (GRCm39)	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,142,210 (GRCm39)	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,759,853 (GRCm39)	Q355K	probably benign	Het
Pnpla7	T	A	2: 24,943,688 (GRCm39)	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,246,170 (GRCm39)	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,321,382 (GRCm39)	S544T	probably damaging	Het
Pusl1	G	A	4: 155,973,998 (GRCm39)	T252I	probably benign	Het
Rnf44	A	G	13: 54,829,745 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,145 (GRCm39)	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,285,697 (GRCm39)		probably null	Het
Sox8	T	C	17: 25,787,963 (GRCm39)	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,992 (GRCm39)		probably null	Het
Taar6	T	C	10: 23,861,298 (GRCm39)	I83V	probably benign	Het
Tes	T	A	6: 17,104,595 (GRCm39)	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,676 (GRCm39)	L435H	probably damaging	Het
Zfhx3	G	T	8: 109,683,639 (GRCm39)	D3693Y	unknown	Het
Zfp931	G	A	2: 177,709,996 (GRCm39)	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,628 (GRCm39)	V95G	unknown	Het
Zw10	A	G	9: 48,985,325 (GRCm39)	E587G	possibly damaging	Het

Other mutations in Cul3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00558:Cul3	APN	1	80,266,457 (GRCm39)	splice site	probably benign
IGL01454:Cul3	APN	1	80,281,900 (GRCm39)	missense	probably damaging	0.97
IGL01510:Cul3	APN	1	80,260,396 (GRCm39)	missense	probably damaging	1.00
IGL01701:Cul3	APN	1	80,255,140 (GRCm39)	missense	probably damaging	0.97
IGL02117:Cul3	APN	1	80,300,781 (GRCm39)	splice site	probably benign
IGL02194:Cul3	APN	1	80,300,754 (GRCm39)	missense	probably benign	0.03
IGL02217:Cul3	APN	1	80,261,484 (GRCm39)	missense	probably damaging	0.97
IGL02417:Cul3	APN	1	80,300,619 (GRCm39)	missense	probably damaging	1.00
IGL02445:Cul3	APN	1	80,281,886 (GRCm39)	missense	possibly damaging	0.74
IGL02601:Cul3	APN	1	80,249,432 (GRCm39)	intron	probably benign
IGL03201:Cul3	APN	1	80,259,144 (GRCm39)	missense	probably damaging	1.00
R0467:Cul3	UTSW	1	80,258,580 (GRCm39)	missense	probably benign	0.01
R0662:Cul3	UTSW	1	80,249,282 (GRCm39)	missense	probably damaging	1.00
R0688:Cul3	UTSW	1	80,249,281 (GRCm39)	missense	possibly damaging	0.63
R0761:Cul3	UTSW	1	80,255,203 (GRCm39)	unclassified	probably benign
R0924:Cul3	UTSW	1	80,267,835 (GRCm39)	missense	probably damaging	0.99
R0930:Cul3	UTSW	1	80,267,835 (GRCm39)	missense	probably damaging	0.99
R0940:Cul3	UTSW	1	80,300,564 (GRCm39)	intron	probably benign
R1117:Cul3	UTSW	1	80,258,641 (GRCm39)	missense	probably damaging	1.00
R1572:Cul3	UTSW	1	80,260,506 (GRCm39)	missense	possibly damaging	0.91
R2384:Cul3	UTSW	1	80,261,406 (GRCm39)	missense	probably damaging	0.99
R3894:Cul3	UTSW	1	80,261,407 (GRCm39)	missense	probably damaging	0.97
R4676:Cul3	UTSW	1	80,249,391 (GRCm39)	missense	probably damaging	1.00
R4908:Cul3	UTSW	1	80,258,632 (GRCm39)	missense	possibly damaging	0.91
R4910:Cul3	UTSW	1	80,267,806 (GRCm39)	missense	probably benign	0.09
R5173:Cul3	UTSW	1	80,259,133 (GRCm39)	missense	possibly damaging	0.94
R5787:Cul3	UTSW	1	80,260,438 (GRCm39)	missense	probably benign	0.13
R5887:Cul3	UTSW	1	80,254,139 (GRCm39)	missense	possibly damaging	0.94
R6057:Cul3	UTSW	1	80,249,249 (GRCm39)	missense	probably damaging	1.00
R6066:Cul3	UTSW	1	80,261,476 (GRCm39)	missense	probably benign	0.06
R6279:Cul3	UTSW	1	80,264,669 (GRCm39)	missense	probably damaging	0.98
R6300:Cul3	UTSW	1	80,264,669 (GRCm39)	missense	probably damaging	0.98
R6617:Cul3	UTSW	1	80,254,156 (GRCm39)	missense	probably damaging	1.00
R7059:Cul3	UTSW	1	80,254,141 (GRCm39)	missense	probably benign	0.00
R7223:Cul3	UTSW	1	80,264,717 (GRCm39)	missense	probably benign	0.14
R7774:Cul3	UTSW	1	80,247,011 (GRCm39)	missense	probably benign
R7958:Cul3	UTSW	1	80,249,274 (GRCm39)	missense	probably benign	0.11
R9494:Cul3	UTSW	1	80,255,169 (GRCm39)	missense	probably damaging	1.00
R9544:Cul3	UTSW	1	80,258,576 (GRCm39)	missense	probably damaging	0.97
Z1088:Cul3	UTSW	1	80,267,808 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGTATGCCCTCTCCAATGAGTTC -3'
(R):5'- AGCCGTTTATTGAAAAGTCTGG -3'

Sequencing Primer
(F):5'- ATGCCCTCTCCAATGAGTTCTAGTC -3'
(R):5'- GGAACTCACTTTATAGACCAGGCTG -3'

Posted On

2016-03-17