Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02410:Cul1'

292252

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 #

IGL02410

Quality Score

Status

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47485014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 37 (M37K)

Ref Sequence

ENSEMBL: ENSMUSP00000121608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031697] [ENSMUST00000143941] [ENSMUST00000146200] [ENSMUST00000146828] [ENSMUST00000152547]

AlphaFold

Q9WTX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031697
AA Change: M37K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: M37K

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

unknown
Transcript: ENSMUST00000143941
AA Change: M37K

SMART Domains

Protein: ENSMUSP00000144845
Gene: ENSMUSG00000029686
AA Change: M37K

Domain	Start	End	E-Value	Type
PDB:1U6G\|A	1	48	2e-26	PDB
SCOP:d1ldja2	17	47	3e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000146200
AA Change: M37K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: M37K

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 damaging
Transcript: ENSMUST00000146828
AA Change: M37K

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

SMART Domains

Protein: ENSMUSP00000121608
Gene: ENSMUSG00000029686
AA Change: M37K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152547

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	G	A	1: 165,510,408	C197Y	probably damaging	Het
Ano2	A	G	6: 125,815,533		probably null	Het
Aqr	A	G	2: 114,136,917	V539A	possibly damaging	Het
Bnip3	C	A	7: 138,898,799	G21C	probably damaging	Het
Dazl	T	C	17: 50,293,398		probably benign	Het
Dsg2	A	G	18: 20,602,132	T1056A	probably benign	Het
Ewsr1	A	G	11: 5,093,863		probably benign	Het
Fam167b	G	A	4: 129,578,218	A53V	probably benign	Het
Fat3	T	C	9: 15,997,845	Y2287C	probably damaging	Het
Gm597	A	G	1: 28,778,631	S107P	probably benign	Het
H2-M10.3	A	T	17: 36,366,536	H283Q	probably damaging	Het
Hectd2	C	T	19: 36,595,213	R39*	probably null	Het
Hnrnph3	A	G	10: 63,015,724		probably benign	Het
Hps4	T	C	5: 112,370,227	V362A	probably benign	Het
Igkv9-120	A	C	6: 68,050,043		probably benign	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Lamc3	A	G	2: 31,905,965	T417A	probably damaging	Het
Loxhd1	T	C	18: 77,402,952	V1307A	probably benign	Het
Mpdz	T	C	4: 81,297,493	E1511G	probably benign	Het
Nprl3	A	T	11: 32,267,539	M1K	probably null	Het
Olfr1501	A	G	19: 13,839,131	I14T	probably benign	Het
Ppp1r15a	A	G	7: 45,524,055	V443A	probably damaging	Het
Psmd1	T	G	1: 86,077,437	L198V	probably damaging	Het
Rapgef4	A	T	2: 72,226,594	I566F	possibly damaging	Het
Rbbp8	T	A	18: 11,732,212	D719E	probably damaging	Het
Siah2	T	C	3: 58,676,047	R273G	probably damaging	Het
Siglecg	C	T	7: 43,408,829	P47S	probably damaging	Het
Sox6	A	G	7: 115,486,744	S621P	probably damaging	Het
Ttn	C	A	2: 76,724,934	A30576S	probably benign	Het
Ttyh1	A	G	7: 4,133,899		probably benign	Het
Ush2a	C	T	1: 188,915,997	R4600C	probably damaging	Het
Usp36	C	T	11: 118,276,185	V289M	probably damaging	Het

Other mutations in Cul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Cul1	APN	6	47509044	missense	probably benign
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
IGL03387:Cul1	APN	6	47501209	missense	probably damaging	0.96
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

2015-04-16