Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01087:Cul1'

51280

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 #

IGL01087

Quality Score

Status

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47509044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 342 (T342A)

Ref Sequence

ENSEMBL: ENSMUSP00000122702 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably benign
Transcript: ENSMUST00000031697
AA Change: T342A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: T342A

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

probably benign
Transcript: ENSMUST00000146200
AA Change: T342A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: T342A

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,162,788		probably null	Het
Abca6	C	A	11: 110,191,650	A1166S	probably benign	Het
Arhgdib	C	A	6: 136,933,624	K46N	probably damaging	Het
Ash1l	T	A	3: 89,063,902	V2507D	probably damaging	Het
B4galnt1	A	T	10: 127,166,191	I63F	probably damaging	Het
Bclaf1	A	G	10: 20,325,310	D394G	probably damaging	Het
Btbd10	T	C	7: 113,316,556	D442G	probably damaging	Het
Cd44	A	T	2: 102,822,262	L492H	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Chsy1	T	G	7: 66,172,126	V703G	possibly damaging	Het
Clrn2	T	C	5: 45,463,969		probably benign	Het
Crtc3	T	C	7: 80,598,739		probably benign	Het
Dgki	T	C	6: 37,012,911	D631G	probably damaging	Het
Eif3b	T	C	5: 140,441,107	I706T	probably damaging	Het
Fam120a	A	G	13: 48,902,073	L713P	probably damaging	Het
I830077J02Rik	C	A	3: 105,928,733		probably null	Het
Jmjd8	A	C	17: 25,829,171		probably benign	Het
Kmt5a	T	C	5: 124,451,380		probably benign	Het
Krt87	C	A	15: 101,431,825	C486F	probably benign	Het
Lrp2	A	T	2: 69,524,073	N470K	probably damaging	Het
Med1	C	A	11: 98,180,285	D79Y	probably damaging	Het
Myo1d	A	G	11: 80,682,435	S189P	probably damaging	Het
Myo9a	T	A	9: 59,790,078	Y381N	possibly damaging	Het
Nipbl	C	A	15: 8,350,497	S937I	possibly damaging	Het
Nlrp4g	A	G	9: 124,353,858		noncoding transcript	Het
Nutm2	A	G	13: 50,469,629	T121A	probably damaging	Het
Olfr93	C	T	17: 37,151,441	C177Y	probably damaging	Het
Opa1	C	T	16: 29,586,997	P127S	probably damaging	Het
Pcdh15	A	T	10: 74,342,632	I574F	possibly damaging	Het
Pcnx	G	A	12: 81,995,339		probably benign	Het
Prex2	A	G	1: 11,068,104	T136A	probably benign	Het
Prph2	A	G	17: 46,911,159	T155A	probably damaging	Het
Rsl1d1	T	C	16: 11,194,675	K296E	possibly damaging	Het
Syne1	A	T	10: 5,425,708	I128N	probably damaging	Het
Tlk1	A	T	2: 70,752,316	N156K	possibly damaging	Het
Trem2	C	T	17: 48,351,928	T222I	probably damaging	Het
Trip12	A	T	1: 84,757,859	F872L	probably damaging	Het
Trrap	T	A	5: 144,846,539	S3393T	probably damaging	Het
Vwa8	T	A	14: 78,935,229	S304T	probably benign	Het
Zc3h7a	T	C	16: 11,153,182	T328A	probably benign	Het

Other mutations in Cul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21