Mutagenetix > Incidental Mutation

Incidental Mutation 'R6057:Cul3'

482940

Institutional Source

Beutler Lab

Gene Symbol

Cul3

Ensembl Gene

ENSMUSG00000004364

Gene Name

cullin 3

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6057 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80242640-80318197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80249249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 674 (I674N)

Ref Sequence

ENSEMBL: ENSMUSP00000130738 (fasta)

Gene Model

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

AlphaFold

Q9JLV5

PDB Structure

Solution structure of the cullin-3 homologue [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000163119
AA Change: I674N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364
AA Change: I674N

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: I608N

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

SMART Domains

Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364
AA Change: I608N

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

noncoding transcript
Transcript: ENSMUST00000167794

Predicted Effect

probably benign
Transcript: ENSMUST00000168372

SMART Domains

Protein: ENSMUSP00000132485
Gene: ENSMUSG00000004364

Domain	Start	End	E-Value	Type
Cullin_Nedd8	38	105	3.28e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192839

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	G	6: 52,156,500 (GRCm39)		probably benign	Het
Acan	A	G	7: 78,749,530 (GRCm39)	S11G	probably null	Het
Ankrd13d	A	C	19: 4,332,256 (GRCm39)	V56G	probably damaging	Het
Arl15	A	G	13: 114,104,151 (GRCm39)	Y76C	probably damaging	Het
Aspg	G	A	12: 112,087,432 (GRCm39)	C296Y	probably damaging	Het
Astl	T	A	2: 127,187,889 (GRCm39)	D101E	probably benign	Het
Bmpr2	A	G	1: 59,881,977 (GRCm39)	N202S	probably benign	Het
Borcs7	T	C	19: 46,690,003 (GRCm39)	*106Q	probably null	Het
Brip1	A	G	11: 85,955,865 (GRCm39)	S883P	possibly damaging	Het
Cacng2	A	T	15: 78,002,991 (GRCm39)	L34Q	probably damaging	Het
Catip	A	C	1: 74,402,077 (GRCm39)	D84A	probably damaging	Het
Ccdc162	A	G	10: 41,510,037 (GRCm39)	L856S	possibly damaging	Het
Ccdc38	A	G	10: 93,417,608 (GRCm39)	K500E	probably damaging	Het
Ccser2	T	C	14: 36,663,122 (GRCm39)	K21E	probably damaging	Het
Cd93	A	T	2: 148,283,439 (GRCm39)	Y636N	probably damaging	Het
Cep128	A	T	12: 91,262,998 (GRCm39)	N300K	possibly damaging	Het
Cfap44	A	G	16: 44,269,460 (GRCm39)	T1155A	probably benign	Het
Clec16a	T	C	16: 10,447,951 (GRCm39)	L550P	probably damaging	Het
Csmd3	T	C	15: 47,618,787 (GRCm39)	Y1867C	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2d34	T	C	15: 82,500,552 (GRCm39)	H429R	probably benign	Het
Dab2ip	T	A	2: 35,582,267 (GRCm39)	C4*	probably null	Het
Dcaf1	A	G	9: 106,731,446 (GRCm39)	E641G	probably damaging	Het
Dda1	T	A	8: 71,927,276 (GRCm39)		probably benign	Het
Dmgdh	C	T	13: 93,888,960 (GRCm39)	T866I	probably benign	Het
Ect2l	T	C	10: 18,037,250 (GRCm39)	T383A	probably benign	Het
Ets2	A	G	16: 95,515,416 (GRCm39)	N181D	probably benign	Het
Ezh2	A	G	6: 47,529,357 (GRCm39)	F222L	probably damaging	Het
Frem3	T	C	8: 81,342,216 (GRCm39)	L1503P	probably damaging	Het
Fsip2	C	A	2: 82,809,777 (GRCm39)	A2032E	probably damaging	Het
Gm1818	C	T	12: 48,602,346 (GRCm39)		noncoding transcript	Het
Gm9493	A	G	19: 23,597,106 (GRCm39)	S1G	probably damaging	Het
Grin2b	A	G	6: 135,710,942 (GRCm39)	I868T	possibly damaging	Het
Ift22	A	T	5: 136,939,987 (GRCm39)	T17S	possibly damaging	Het
Il4ra	T	C	7: 125,170,735 (GRCm39)	W216R	probably damaging	Het
Kcnj6	A	T	16: 94,633,236 (GRCm39)	W274R	probably damaging	Het
Kctd19	G	A	8: 106,123,082 (GRCm39)	H111Y	probably damaging	Het
Kremen2	A	G	17: 23,961,679 (GRCm39)	V276A	probably benign	Het
Lig1	C	A	7: 13,022,598 (GRCm39)	Q143K	probably damaging	Het
Lrp1	A	T	10: 127,403,359 (GRCm39)	D2071E	probably damaging	Het
Macf1	C	T	4: 123,404,536 (GRCm39)	M475I	probably damaging	Het
Mbtd1	G	A	11: 93,820,485 (GRCm39)	A427T	probably damaging	Het
Myof	A	G	19: 37,915,429 (GRCm39)		probably null	Het
Nbeal2	T	C	9: 110,470,945 (GRCm39)	D308G	possibly damaging	Het
Ncdn	T	C	4: 126,638,824 (GRCm39)	Q665R	probably benign	Het
Nkd1	T	C	8: 89,316,442 (GRCm39)		probably null	Het
Nktr	G	A	9: 121,577,455 (GRCm39)		probably benign	Het
Npc1l1	A	T	11: 6,167,806 (GRCm39)	M995K	possibly damaging	Het
Or10ag59	C	A	2: 87,406,363 (GRCm39)	R312S	probably benign	Het
Or11g7	A	T	14: 50,691,201 (GRCm39)	R231*	probably null	Het
Or14n1-ps1	T	A	7: 86,092,397 (GRCm39)	C69*	probably null	Het
Padi4	T	C	4: 140,487,351 (GRCm39)	T184A	probably damaging	Het
Pgm2l1	C	T	7: 99,915,881 (GRCm39)	P409S	probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pgr	T	C	9: 8,902,006 (GRCm39)	L513P	probably damaging	Het
Pikfyve	T	A	1: 65,311,730 (GRCm39)	I1989N	probably damaging	Het
Prrc2a	T	C	17: 35,371,716 (GRCm39)	T1806A	probably benign	Het
Psd	T	C	19: 46,311,753 (GRCm39)	E309G	possibly damaging	Het
Qtrt1	C	T	9: 21,323,299 (GRCm39)	T50I	probably damaging	Het
Rims2	A	C	15: 39,538,416 (GRCm39)	T1320P	probably damaging	Het
Scn11a	T	G	9: 119,594,514 (GRCm39)	N1293T	probably damaging	Het
Scn8a	T	C	15: 100,872,548 (GRCm39)	F529S	possibly damaging	Het
Sec14l4	A	T	11: 3,985,142 (GRCm39)	D25V	possibly damaging	Het
Sema3a	C	T	5: 13,615,832 (GRCm39)	R419C	probably damaging	Het
Slc12a1	T	C	2: 125,032,133 (GRCm39)	Y595H	probably damaging	Het
Slc25a28	A	T	19: 43,655,364 (GRCm39)	H170Q	possibly damaging	Het
Slc26a1	T	A	5: 108,821,631 (GRCm39)	Q86L	probably damaging	Het
Slc48a1	T	A	15: 97,687,798 (GRCm39)	W51R	probably damaging	Het
Sptlc3	T	A	2: 139,423,533 (GRCm39)	V309D	probably damaging	Het
Srcap	G	A	7: 127,140,528 (GRCm39)	S1375N	probably damaging	Het
Tanc1	C	A	2: 59,647,837 (GRCm39)	H986Q	possibly damaging	Het
Tbc1d4	A	G	14: 101,727,353 (GRCm39)	V486A	probably damaging	Het
Tceanc2	T	C	4: 107,004,776 (GRCm39)	D124G	probably damaging	Het
Tdrd9	A	G	12: 111,979,720 (GRCm39)	M402V	possibly damaging	Het
Tmem132d	T	C	5: 127,861,934 (GRCm39)	D729G	probably damaging	Het
Tmem62	T	A	2: 120,807,943 (GRCm39)	I55N	probably damaging	Het
Tnfrsf21	A	T	17: 43,350,606 (GRCm39)	N257Y	possibly damaging	Het
Trappc3	T	C	4: 126,167,834 (GRCm39)	L131P	probably damaging	Het
Vmn2r25	A	T	6: 123,799,900 (GRCm39)	M814K	possibly damaging	Het
Vmn2r87	T	C	10: 130,308,226 (GRCm39)	I671V	probably benign	Het
Vwa8	A	T	14: 79,320,313 (GRCm39)	D1108V	probably benign	Het
Xrcc4	C	G	13: 90,139,198 (GRCm39)	A241P	possibly damaging	Het
Xylt1	T	A	7: 117,191,135 (GRCm39)	D310E	probably benign	Het
Zfp27	T	G	7: 29,594,444 (GRCm39)	H507P	possibly damaging	Het
Zfp341	C	T	2: 154,466,954 (GRCm39)	P108S	probably benign	Het
Zfp641	T	C	15: 98,190,816 (GRCm39)	N76S	probably benign	Het
Zfp936	T	C	7: 42,839,787 (GRCm39)	V418A	probably benign	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
R4893:Cul3	UTSW	1	80,266,567 (GRCm39)	missense	probably damaging	0.98
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
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'- TTTTGCCATCAACATGACAGGC -3'
(R):5'- ATTCAACAAGAGACAGATATCCCTG -3'

Posted On

2017-07-14