Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03065:Cul1'

409668

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 #

IGL03065

Quality Score

Status

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47495081 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 52 (Y52C)

Ref Sequence

ENSEMBL: ENSMUSP00000121608 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031697
AA Change: Y52C

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

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: Y52C

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 damaging
Transcript: ENSMUST00000146200
AA Change: Y52C

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

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: Y52C

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: Y52C

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

SMART Domains

Protein: ENSMUSP00000121608
Gene: ENSMUSG00000029686
AA Change: Y52C

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	G	8: 83,938,514	M1322V	possibly damaging	Het
Adprh	C	T	16: 38,446,034	V249I	probably benign	Het
Als2	T	C	1: 59,215,872	S109G	probably benign	Het
Bpifa1	T	A	2: 154,147,642	N250K	probably damaging	Het
Capn9	A	C	8: 124,605,559	Y423S	probably damaging	Het
Cd200r1	T	G	16: 44,794,282	V308G	probably benign	Het
Cic	T	C	7: 25,285,821		probably benign	Het
Col5a1	T	A	2: 28,032,745	I275N	possibly damaging	Het
Col6a4	C	A	9: 106,041,164		probably benign	Het
Cpeb1	T	C	7: 81,436,290	R35G	probably benign	Het
Dctn1	T	C	6: 83,192,493	F496L	probably damaging	Het
Dock11	G	T	X: 36,047,046		probably benign	Het
Eaf2	C	T	16: 36,828,122	R12H	probably benign	Het
Gcc1	T	A	6: 28,418,402	Q644L	possibly damaging	Het
Gm44865	C	T	7: 108,565,797		probably benign	Het
Gm6614	C	A	6: 141,992,502	L230F	probably damaging	Het
Golgb1	C	T	16: 36,912,866	S825L	probably benign	Het
Gstp3	C	T	19: 4,058,730		probably null	Het
Heph	T	A	X: 96,527,567	I669N	probably benign	Het
Il12rb1	A	T	8: 70,820,558	Y635F	possibly damaging	Het
Ing3	G	A	6: 21,971,222	A331T	probably benign	Het
Ipo8	T	A	6: 148,784,707	I762F	probably benign	Het
Itpr3	G	A	17: 27,091,933	R510Q	probably damaging	Het
Kif16b	A	G	2: 142,619,913	Y1273H	probably damaging	Het
Map3k14	T	C	11: 103,225,101	E784G	probably damaging	Het
Mpdz	A	T	4: 81,292,565	N1694K	probably damaging	Het
Myh13	T	C	11: 67,344,853	F648S	probably damaging	Het
Myh4	A	G	11: 67,259,156	H1847R	probably benign	Het
Ncoa7	T	A	10: 30,647,997	D840V	probably damaging	Het
Nxpe2	T	A	9: 48,319,692	N459I	possibly damaging	Het
Olfr1297	T	C	2: 111,621,190	K295E	probably damaging	Het
Olfr1426	C	A	19: 12,088,611	L60F	possibly damaging	Het
Olfr730	C	A	14: 50,187,008	D70Y	probably damaging	Het
Ovgp1	T	C	3: 105,986,366	F485S	probably benign	Het
Parp4	G	T	14: 56,637,869	A1182S	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Pla2g15	G	A	8: 106,160,219	R114H	probably benign	Het
Plppr3	T	A	10: 79,866,046	T321S	probably benign	Het
Rnf113a1	A	G	X: 37,192,095	D235G	probably benign	Het
Rsrp1	A	G	4: 134,924,389	T155A	possibly damaging	Het
Simc1	G	T	13: 54,537,212	C87F	probably damaging	Het
Slco1a5	A	G	6: 142,248,843		probably benign	Het
Smyd5	A	G	6: 85,442,164	D276G	possibly damaging	Het
Spata5	T	C	3: 37,432,179	V350A	possibly damaging	Het
Tmem132c	A	G	5: 127,563,624	Y953C	probably damaging	Het
Trank1	T	A	9: 111,390,293	S2033T	possibly damaging	Het
Trim69	A	G	2: 122,178,634	T392A	probably damaging	Het
Tsks	T	C	7: 44,943,300	V6A	probably damaging	Het
Yjefn3	A	G	8: 69,889,556		probably benign	Het
Zfp263	T	G	16: 3,746,480	D211E	probably benign	Het
Zfp994	A	T	17: 22,202,680	F51L	probably damaging	Het
Znfx1	A	T	2: 167,055,765	M413K	probably benign	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
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

2016-08-02