Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02490:Cul1'

295577

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 #

IGL02490

Quality Score

Status

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47514886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 392 (V392A)

Ref Sequence

ENSEMBL: ENSMUSP00000122702 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031697
AA Change: V392A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: V392A

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

noncoding transcript
Transcript: ENSMUST00000126877

Predicted Effect

probably damaging
Transcript: ENSMUST00000146200
AA Change: V392A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: V392A

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

noncoding transcript
Transcript: ENSMUST00000151934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154201

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D06Rik	A	G	6: 89,101,577		noncoding transcript	Het
Adam5	A	T	8: 24,781,704	Y562*	probably null	Het
Akr1d1	T	C	6: 37,558,488	V269A	probably damaging	Het
Anks4b	A	G	7: 120,174,018	T34A	probably damaging	Het
Arhgef40	A	G	14: 51,989,195	N232S	probably damaging	Het
Cdc40	C	T	10: 40,841,771	V379I	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdh13	A	G	8: 119,095,323	D307G	probably damaging	Het
Ces1h	A	G	8: 93,356,999		probably null	Het
Chchd6	T	A	6: 89,384,674	H249L	possibly damaging	Het
Cwc15	A	T	9: 14,502,024	D34V	probably damaging	Het
Cyp2c39	T	C	19: 39,539,002	I264T	probably damaging	Het
Dapk1	A	G	13: 60,749,334	D789G	probably damaging	Het
Dcdc2a	T	A	13: 25,107,652	Y207N	probably damaging	Het
Efcab1	T	A	16: 14,916,946	V60E	probably benign	Het
Flt3	T	A	5: 147,331,296	N960Y	probably damaging	Het
Fmn1	C	T	2: 113,529,472		probably benign	Het
Foxm1	T	A	6: 128,373,351	C400*	probably null	Het
Ftmt	A	C	18: 52,331,688	R25S	probably benign	Het
Guca1b	T	C	17: 47,389,265		probably benign	Het
Hectd4	A	T	5: 121,318,613	K680N	possibly damaging	Het
Hephl1	C	A	9: 15,053,685	R1138L	probably benign	Het
Il1rl2	T	A	1: 40,356,812		probably benign	Het
Ints2	A	T	11: 86,233,183	I593K	possibly damaging	Het
Iqcg	T	A	16: 33,035,567	K213*	probably null	Het
Kif1b	T	A	4: 149,204,208	S1259C	probably benign	Het
Klc1	C	T	12: 111,781,776	T371M	possibly damaging	Het
Loxl4	T	C	19: 42,604,830	T301A	probably benign	Het
Lrrc40	T	C	3: 158,062,699	L497P	probably damaging	Het
Masp2	C	T	4: 148,607,943	R298W	possibly damaging	Het
Myo5a	A	T	9: 75,136,455	Y242F	probably damaging	Het
Nup98	A	G	7: 102,152,366	V784A	probably damaging	Het
Olfr1138	T	C	2: 87,737,955	Y123C	probably damaging	Het
Osbpl1a	G	T	18: 12,882,284		probably benign	Het
Pcdh10	A	G	3: 45,380,487	Y412C	probably damaging	Het
Pfkfb2	T	A	1: 130,700,852	Y339F	probably damaging	Het
Plcb2	T	C	2: 118,719,760	N172D	probably damaging	Het
Plec	T	C	15: 76,189,263	Y517C	probably damaging	Het
Plod2	G	T	9: 92,586,842	A207S	probably benign	Het
Plxdc1	A	T	11: 97,954,778	D229E	probably benign	Het
Ppp3cb	A	G	14: 20,531,658		probably null	Het
Procr	T	C	2: 155,753,432	L52P	probably damaging	Het
Psme2b	G	T	11: 48,946,119		probably benign	Het
Rgs22	G	A	15: 36,054,847	A727V	probably damaging	Het
Rock2	T	A	12: 16,948,563	W277R	probably damaging	Het
Rpl26	A	G	11: 68,904,390	D112G	probably damaging	Het
Rxfp1	C	A	3: 79,652,167		probably null	Het
Sdr39u1	G	A	14: 55,898,341	P98L	probably damaging	Het
Sgms1	T	C	19: 32,160,143	K8E	probably damaging	Het
Stk31	T	C	6: 49,417,535	V277A	probably benign	Het
Trav15-1-dv6-1	A	C	14: 53,560,131	E79A	probably benign	Het
Ttll6	A	T	11: 96,156,720	D715V	possibly damaging	Het
Ush2a	T	C	1: 188,810,364	S3376P	probably damaging	Het
Vmn2r109	T	A	17: 20,540,984	T704S	possibly damaging	Het
Zfp27	T	A	7: 29,894,935	H535L	possibly damaging	Het
Zfp609	A	T	9: 65,703,968	V571D	possibly damaging	Het
Zfp874a	A	T	13: 67,442,700	Y288*	probably null	Het
Zfp993	T	C	4: 146,657,617	S133P	probably 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
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