Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03387:Cul1'

420885

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03387

Quality Score

Status

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47501209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 175 (L175F)

Ref Sequence

ENSEMBL: ENSMUSP00000031697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031697] [ENSMUST00000146200] [ENSMUST00000146828]

AlphaFold

Q9WTX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031697
AA Change: L175F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: L175F

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	17	410	1e-174	SMART
CULLIN	447	594	3.69e-81	SMART
low complexity region	638	651	N/A	INTRINSIC
Cullin_Nedd8	703	770	6.19e-34	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146200
AA Change: L175F

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: L175F

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	17	410	1e-176	SMART
CULLIN	447	594	3.69e-81	SMART
low complexity region	638	651	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146828

SMART Domains

Protein: ENSMUSP00000121608
Gene: ENSMUSG00000029686

Domain	Start	End	E-Value	Type
Pfam:Cullin	21	110	8.8e-13	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations accumulate cyclin E1 and exhibit arrested development and lethality around embryonic day 6.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	G	2: 130,717,280	Y822H	probably damaging	Het
Adcy2	A	C	13: 68,730,367	I384S	probably damaging	Het
Atxn7	T	C	14: 14,087,273		probably benign	Het
Blm	A	T	7: 80,494,147	V848D	probably damaging	Het
Cyp4a29	A	G	4: 115,251,171	H364R	possibly damaging	Het
Ddx60	A	G	8: 62,012,449	D1380G	probably damaging	Het
Det1	A	T	7: 78,843,624	C211S	possibly damaging	Het
F5	A	C	1: 164,193,232	Q1092P	probably damaging	Het
Fam117b	A	C	1: 59,952,960	Y256S	probably benign	Het
Fbxl13	A	G	5: 21,523,798		probably null	Het
Galnt7	A	G	8: 57,526,178	I637T	probably benign	Het
H2-T24	T	A	17: 36,006,779	K120N	unknown	Het
Hes2	A	G	4: 152,159,812	K18R	probably damaging	Het
Icam5	A	T	9: 21,033,801	Q220L	probably benign	Het
Kdm8	G	A	7: 125,455,106	A170T	probably benign	Het
Krt40	G	A	11: 99,539,885	A321V	probably damaging	Het
Mapkbp1	T	A	2: 119,998,498	V45D	probably damaging	Het
Mbip	A	G	12: 56,335,812	Y290H	probably damaging	Het
Mical1	A	G	10: 41,478,199	Y48C	probably damaging	Het
Mslnl	T	C	17: 25,744,077	S300P	probably benign	Het
Nanog	T	C	6: 122,711,772	L104P	probably damaging	Het
Olfr1218	A	T	2: 89,055,113	H104Q	probably damaging	Het
Olfr1313	T	A	2: 112,071,662	Y307F	probably benign	Het
Olfr1333	T	C	4: 118,830,041	Y132C	probably damaging	Het
Olfr668	A	T	7: 104,925,373	N130K	probably benign	Het
Oxgr1	C	A	14: 120,022,787	E3*	probably null	Het
Pam16	A	T	16: 4,616,807		probably benign	Het
Plcb1	A	T	2: 134,813,686		probably benign	Het
Slc25a32	A	T	15: 39,105,964	V58E	probably benign	Het
Slc2a12	G	T	10: 22,665,235	V330F	probably damaging	Het
Slit1	T	C	19: 41,603,442	E1247G	possibly damaging	Het
Supt5	A	T	7: 28,320,083	C519S	possibly damaging	Het
Szt2	A	G	4: 118,364,725		probably benign	Het
Tas2r118	A	G	6: 23,969,181	W294R	possibly damaging	Het
Tex21	A	T	12: 76,198,920	M534K	probably damaging	Het
Tmem132c	T	C	5: 127,563,720	I985T	probably benign	Het
Tmem87b	T	C	2: 128,823,099	V61A	probably benign	Het
Trhr2	G	A	8: 122,358,481		probably benign	Het
Ttc28	A	G	5: 111,233,342	D1209G	probably benign	Het
Uchl5	A	G	1: 143,802,202	E148G	probably benign	Het
Wdr62	T	C	7: 30,270,774	I203V	possibly damaging	Het
Wnk1	T	C	6: 119,954,187	I799V	possibly damaging	Het

Other mutations in Cul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Cul1	APN	6	47509044	missense	probably benign
IGL02410:Cul1	APN	6	47485014	missense	probably damaging	1.00
IGL02458:Cul1	APN	6	47525608	missense	possibly damaging	0.91
IGL02490:Cul1	APN	6	47514886	missense	probably damaging	0.98
IGL03065:Cul1	APN	6	47495081	missense	probably damaging	1.00
IGL02837:Cul1	UTSW	6	47523205	missense	probably benign	0.01
R0064:Cul1	UTSW	6	47502415	splice site	probably benign
R0064:Cul1	UTSW	6	47502415	splice site	probably benign
R0436:Cul1	UTSW	6	47523773	missense	probably benign	0.16
R0746:Cul1	UTSW	6	47518288	splice site	probably null
R1103:Cul1	UTSW	6	47517177	missense	probably benign	0.03
R1471:Cul1	UTSW	6	47514886	missense	probably damaging	0.98
R1746:Cul1	UTSW	6	47508245	missense	probably damaging	0.98
R1852:Cul1	UTSW	6	47520830	missense	probably damaging	0.99
R1858:Cul1	UTSW	6	47525524	splice site	probably null
R1937:Cul1	UTSW	6	47508355	missense	probably benign	0.19
R1964:Cul1	UTSW	6	47502571	missense	probably damaging	0.98
R2985:Cul1	UTSW	6	47502507	missense	probably damaging	1.00
R4452:Cul1	UTSW	6	47508989	nonsense	probably null
R4653:Cul1	UTSW	6	47484963	missense	probably damaging	1.00
R4860:Cul1	UTSW	6	47517146	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47517191	missense	probably damaging	0.99
R4860:Cul1	UTSW	6	47517146	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47517191	missense	probably damaging	0.99
R5141:Cul1	UTSW	6	47520839	missense	probably benign	0.04
R5328:Cul1	UTSW	6	47508317	missense	probably damaging	0.99
R5399:Cul1	UTSW	6	47485084	splice site	probably null
R5593:Cul1	UTSW	6	47485086	nonsense	probably null
R5593:Cul1	UTSW	6	47514991	missense	probably damaging	0.99
R5616:Cul1	UTSW	6	47523788	missense	probably damaging	1.00
R5855:Cul1	UTSW	6	47523213	missense	probably benign	0.00
R6382:Cul1	UTSW	6	47502439	missense	probably damaging	1.00
R6670:Cul1	UTSW	6	47517134	missense	probably damaging	1.00
R6964:Cul1	UTSW	6	47516509	missense	probably benign	0.01
R8146:Cul1	UTSW	6	47495093	missense	possibly damaging	0.50
R8373:Cul1	UTSW	6	47515063	missense	possibly damaging	0.78
R8842:Cul1	UTSW	6	47515076	missense	probably damaging	1.00
R8899:Cul1	UTSW	6	47497312	missense	possibly damaging	0.84
R9093:Cul1	UTSW	6	47518239	missense	probably damaging	1.00
R9352:Cul1	UTSW	6	47502492	missense	probably benign	0.00
RF001:Cul1	UTSW	6	47524581	missense	possibly damaging	0.50
RF055:Cul1	UTSW	6	47517133	missense	probably damaging	1.00

Posted On

2016-08-02