Mutagenetix > Incidental Mutation

Incidental Mutation 'R1858:Cul1'

265973

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

039882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1858 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 47525524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031697] [ENSMUST00000081721] [ENSMUST00000114616] [ENSMUST00000114618] [ENSMUST00000146200]

AlphaFold

Q9WTX6

Predicted Effect

probably null
Transcript: ENSMUST00000031697

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686

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: ENSMUST00000081721

SMART Domains

Protein: ENSMUSP00000080419
Gene: ENSMUSG00000029687

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	6.1e-18	PFAM
SANT	159	250	9.7e-3	SMART
low complexity region	349	366	N/A	INTRINSIC
low complexity region	385	409	N/A	INTRINSIC
SANT	428	476	6.62e-1	SMART
CXC	555	592	1.05e-1	SMART
SET	612	733	4.15e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114616

SMART Domains

Protein: ENSMUSP00000110263
Gene: ENSMUSG00000029687

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	2.5e-20	PFAM
SANT	120	211	9.7e-3	SMART
low complexity region	310	327	N/A	INTRINSIC
low complexity region	346	370	N/A	INTRINSIC
SANT	389	437	6.62e-1	SMART
CXC	516	553	1.05e-1	SMART
SET	573	694	4.15e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114618

SMART Domains

Protein: ENSMUSP00000110265
Gene: ENSMUSG00000029687

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	7.4e-20	PFAM
SANT	150	241	9.7e-3	SMART
low complexity region	345	362	N/A	INTRINSIC
low complexity region	381	405	N/A	INTRINSIC
SANT	424	472	6.62e-1	SMART
CXC	551	588	1.05e-1	SMART
SET	608	729	4.15e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126877

Predicted Effect

probably benign
Transcript: ENSMUST00000146200

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686

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: ENSMUST00000149531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203857

Predicted Effect

probably benign
Transcript: ENSMUST00000204243

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.0%

Validation Efficiency

97% (112/116)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 11,974,953 (GRCm38)	A443E	unknown	Het
Acacb	A	T	5: 114,196,709 (GRCm38)	Y613F	probably benign	Het
Adam23	A	C	1: 63,557,456 (GRCm38)	I566L	probably benign	Het
Adar	G	T	3: 89,739,282 (GRCm38)	R338L	probably benign	Het
Akap14	C	T	X: 37,157,126 (GRCm38)	A476T	probably damaging	Het
Amotl1	T	A	9: 14,575,401 (GRCm38)	Q399L	probably benign	Het
Ankrd16	T	G	2: 11,778,596 (GRCm38)	L3R	probably benign	Het
Arfgap1	G	C	2: 180,974,088 (GRCm38)	G187R	probably damaging	Het
Arhgap19	A	T	19: 41,779,153 (GRCm38)	V399D	probably benign	Het
Arl4d	A	G	11: 101,666,752 (GRCm38)	T35A	probably damaging	Het
Atr	T	A	9: 95,865,097 (GRCm38)	I144N	probably damaging	Het
Bptf	A	G	11: 107,073,301 (GRCm38)	M1574T	probably benign	Het
Cacna1h	T	A	17: 25,380,807 (GRCm38)	D1684V	probably damaging	Het
Celsr1	C	A	15: 86,032,759 (GRCm38)	V338F	probably damaging	Het
Cep164	T	C	9: 45,823,640 (GRCm38)		probably benign	Het
Clock	C	A	5: 76,240,909 (GRCm38)	G390C	possibly damaging	Het
Col6a6	A	G	9: 105,781,102 (GRCm38)	F637S	probably damaging	Het
Crebrf	T	A	17: 26,742,963 (GRCm38)	Y345N	probably benign	Het
Cyb5r4	C	T	9: 87,041,279 (GRCm38)	S185L	probably benign	Het
Cyp3a57	T	C	5: 145,381,249 (GRCm38)	Y347H	probably damaging	Het
Dgkq	G	T	5: 108,653,731 (GRCm38)	T487K	probably benign	Het
Dmkn	T	C	7: 30,764,565 (GRCm38)	V143A	probably benign	Het
Dmp1	A	T	5: 104,207,630 (GRCm38)	E32V	possibly damaging	Het
Dsc3	T	C	18: 19,965,716 (GRCm38)	D802G	probably damaging	Het
Dse	T	C	10: 34,153,229 (GRCm38)	T622A	probably benign	Het
Dusp27	T	C	1: 166,100,846 (GRCm38)	Y399C	possibly damaging	Het
Dyrk1b	A	T	7: 28,182,646 (GRCm38)		probably null	Het
Ehd2	T	C	7: 15,952,188 (GRCm38)	T320A	probably benign	Het
Eif3a	A	C	19: 60,782,197 (GRCm38)	L71V	probably damaging	Het
Eif4e1b	A	G	13: 54,787,278 (GRCm38)		probably null	Het
Fam131b	A	G	6: 42,318,980 (GRCm38)	F161L	probably damaging	Het
Fam171b	A	T	2: 83,853,381 (GRCm38)	M81L	probably benign	Het
Gal3st4	T	C	5: 138,270,788 (GRCm38)		probably null	Het
Gdf11	A	T	10: 128,886,446 (GRCm38)	V180E	probably damaging	Het
Gm4758	A	T	16: 36,308,087 (GRCm38)	I15F	probably damaging	Het
Gm4981	A	G	10: 58,235,780 (GRCm38)	V204A	probably benign	Het
Grin3a	T	A	4: 49,792,437 (GRCm38)	Y432F	probably benign	Het
Hif1a	C	A	12: 73,944,155 (GRCm38)	H708N	probably benign	Het
Hmcn2	G	T	2: 31,415,283 (GRCm38)		probably null	Het
Hrasls	G	A	16: 29,217,718 (GRCm38)	G36D	probably damaging	Het
Hs3st6	T	A	17: 24,757,999 (GRCm38)	M151K	possibly damaging	Het
Hyal2	T	A	9: 107,572,338 (GRCm38)	L431Q	probably benign	Het
Hyal6	A	T	6: 24,740,858 (GRCm38)	T337S	probably benign	Het
Igsf5	A	T	16: 96,386,629 (GRCm38)		probably null	Het
Kif13a	G	A	13: 46,864,838 (GRCm38)		probably benign	Het
Krtap19-3	G	A	16: 88,877,990 (GRCm38)		probably benign	Het
Lgalsl	T	C	11: 20,829,420 (GRCm38)	D75G	probably benign	Het
Lrrc56	A	G	7: 141,207,508 (GRCm38)	M353V	probably benign	Het
Ltbp2	T	A	12: 84,830,781 (GRCm38)	K337*	probably null	Het
Mdn1	C	T	4: 32,730,881 (GRCm38)	H2917Y	probably benign	Het
Medag	A	G	5: 149,429,794 (GRCm38)	I151M	probably damaging	Het
Meiob	T	C	17: 24,823,570 (GRCm38)	V124A	probably damaging	Het
Mmp3	A	G	9: 7,451,799 (GRCm38)	H379R	probably benign	Het
Mpg	A	G	11: 32,231,957 (GRCm38)		probably null	Het
Ncoa6	G	T	2: 155,421,639 (GRCm38)	Q292K	probably benign	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm38)	H277Q	probably benign	Het
Nlrp4c	A	G	7: 6,084,656 (GRCm38)	I763V	probably benign	Het
Nlrp5	A	T	7: 23,418,161 (GRCm38)	I437F	probably damaging	Het
Noc2l	G	A	4: 156,245,270 (GRCm38)	R435Q	probably damaging	Het
Nova2	T	C	7: 18,958,401 (GRCm38)	I485T	probably damaging	Het
Nrxn2	G	A	19: 6,488,795 (GRCm38)	V794I	probably benign	Het
Nup210l	A	G	3: 90,154,499 (GRCm38)	T662A	probably damaging	Het
Olfr1014	T	C	2: 85,777,238 (GRCm38)	L218P	probably damaging	Het
Olfr1367	A	G	13: 21,347,176 (GRCm38)	M83V	possibly damaging	Het
Olfr1368	A	T	13: 21,142,394 (GRCm38)	I221N	probably damaging	Het
Olfr1370	A	T	13: 21,072,471 (GRCm38)	F277I	probably damaging	Het
Olfr606	G	A	7: 103,452,125 (GRCm38)	V263I	probably benign	Het
Olfr612	G	A	7: 103,538,652 (GRCm38)	T194I	probably damaging	Het
Olfr78	A	C	7: 102,742,364 (GRCm38)	I213S	probably damaging	Het
Pelp1	G	A	11: 70,394,742 (GRCm38)	P767S	probably damaging	Het
Pfdn1	C	A	18: 36,451,100 (GRCm38)	M60I	probably benign	Het
Plcxd3	T	A	15: 4,516,611 (GRCm38)		probably benign	Het
Plekhg1	C	A	10: 3,945,917 (GRCm38)	D436E	possibly damaging	Het
Ppfibp1	G	A	6: 146,990,592 (GRCm38)	V117I	probably benign	Het
Prss44	A	G	9: 110,814,109 (GRCm38)	K24R	probably benign	Het
Ptger1	G	T	8: 83,668,478 (GRCm38)	G195W	probably benign	Het
Ptgs1	A	C	2: 36,242,770 (GRCm38)	D260A	probably benign	Het
Ptprd	T	A	4: 75,947,147 (GRCm38)	T1198S	probably damaging	Het
Qsox2	A	G	2: 26,214,062 (GRCm38)	S319P	probably damaging	Het
Rab35	A	G	5: 115,640,088 (GRCm38)	I38V	probably damaging	Het
Rapgef4	A	G	2: 72,031,064 (GRCm38)	I33V	possibly damaging	Het
Rbbp8nl	C	T	2: 180,282,213 (GRCm38)		probably benign	Het
Riok1	A	T	13: 38,058,718 (GRCm38)	K473*	probably null	Het
Rtca	C	T	3: 116,494,115 (GRCm38)	G288S	probably benign	Het
Sag	A	T	1: 87,814,848 (GRCm38)	D114V	probably benign	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Sec61g	A	G	11: 16,506,371 (GRCm38)		probably null	Het
Sf3a3	A	T	4: 124,729,495 (GRCm38)	I440F	probably damaging	Het
Sgta	T	C	10: 81,048,861 (GRCm38)	K205E	possibly damaging	Het
Slc36a4	A	G	9: 15,720,710 (GRCm38)	T61A	probably damaging	Het
Slc5a4a	T	C	10: 76,166,735 (GRCm38)	S242P	probably benign	Het
Srgap3	A	T	6: 112,771,518 (GRCm38)	L391Q	probably damaging	Het
Stard13	T	C	5: 151,095,438 (GRCm38)	Y60C	probably damaging	Het
Syt12	G	T	19: 4,447,797 (GRCm38)	H386N	probably damaging	Het
Thyn1	T	A	9: 27,003,774 (GRCm38)	M74K	probably benign	Het
Tmem130	C	A	5: 144,752,283 (GRCm38)		probably null	Het
Trim71	A	G	9: 114,562,948 (GRCm38)	V57A	possibly damaging	Het
Twf1	T	C	15: 94,585,547 (GRCm38)		probably benign	Het
Tyro3	T	A	2: 119,801,695 (GRCm38)	I81N	possibly damaging	Het
Unc13a	A	T	8: 71,652,399 (GRCm38)	C740S	probably damaging	Het
Vmn1r15	A	T	6: 57,258,631 (GRCm38)	K161N	probably benign	Het
Vmn1r16	A	T	6: 57,322,899 (GRCm38)	I246N	probably damaging	Het
Vmn1r42	A	G	6: 89,844,615 (GRCm38)	I324T	probably benign	Het
Vmn2r35	T	C	7: 7,816,806 (GRCm38)	Y155C	possibly damaging	Het
Wif1	T	A	10: 121,083,883 (GRCm38)		probably null	Het
Wscd2	G	A	5: 113,551,170 (GRCm38)	R79Q	possibly damaging	Het
Zan	G	T	5: 137,405,877 (GRCm38)		probably benign	Het
Zfp9	G	T	6: 118,465,060 (GRCm38)	H214N	probably benign	Het
Zfp985	A	T	4: 147,582,858 (GRCm38)	Y61F	probably benign	Het
Zscan30	A	G	18: 23,971,467 (GRCm38)		noncoding transcript	Het

Other mutations in Cul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Cul1	APN	6	47,509,044 (GRCm38)	missense	probably benign
IGL02410:Cul1	APN	6	47,485,014 (GRCm38)	missense	probably damaging	1.00
IGL02458:Cul1	APN	6	47,525,608 (GRCm38)	missense	possibly damaging	0.91
IGL02490:Cul1	APN	6	47,514,886 (GRCm38)	missense	probably damaging	0.98
IGL03065:Cul1	APN	6	47,495,081 (GRCm38)	missense	probably damaging	1.00
IGL03387:Cul1	APN	6	47,501,209 (GRCm38)	missense	probably damaging	0.96
IGL02837:Cul1	UTSW	6	47,523,205 (GRCm38)	missense	probably benign	0.01
R0064:Cul1	UTSW	6	47,502,415 (GRCm38)	splice site	probably benign
R0064:Cul1	UTSW	6	47,502,415 (GRCm38)	splice site	probably benign
R0436:Cul1	UTSW	6	47,523,773 (GRCm38)	missense	probably benign	0.16
R0746:Cul1	UTSW	6	47,518,288 (GRCm38)	splice site	probably null
R1103:Cul1	UTSW	6	47,517,177 (GRCm38)	missense	probably benign	0.03
R1471:Cul1	UTSW	6	47,514,886 (GRCm38)	missense	probably damaging	0.98
R1746:Cul1	UTSW	6	47,508,245 (GRCm38)	missense	probably damaging	0.98
R1852:Cul1	UTSW	6	47,520,830 (GRCm38)	missense	probably damaging	0.99
R1937:Cul1	UTSW	6	47,508,355 (GRCm38)	missense	probably benign	0.19
R1964:Cul1	UTSW	6	47,502,571 (GRCm38)	missense	probably damaging	0.98
R2985:Cul1	UTSW	6	47,502,507 (GRCm38)	missense	probably damaging	1.00
R4452:Cul1	UTSW	6	47,508,989 (GRCm38)	nonsense	probably null
R4653:Cul1	UTSW	6	47,484,963 (GRCm38)	missense	probably damaging	1.00
R4860:Cul1	UTSW	6	47,517,146 (GRCm38)	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47,517,146 (GRCm38)	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47,517,191 (GRCm38)	missense	probably damaging	0.99
R4860:Cul1	UTSW	6	47,517,191 (GRCm38)	missense	probably damaging	0.99
R5141:Cul1	UTSW	6	47,520,839 (GRCm38)	missense	probably benign	0.04
R5328:Cul1	UTSW	6	47,508,317 (GRCm38)	missense	probably damaging	0.99
R5399:Cul1	UTSW	6	47,485,084 (GRCm38)	splice site	probably null
R5593:Cul1	UTSW	6	47,514,991 (GRCm38)	missense	probably damaging	0.99
R5593:Cul1	UTSW	6	47,485,086 (GRCm38)	nonsense	probably null
R5616:Cul1	UTSW	6	47,523,788 (GRCm38)	missense	probably damaging	1.00
R5855:Cul1	UTSW	6	47,523,213 (GRCm38)	missense	probably benign	0.00
R6382:Cul1	UTSW	6	47,502,439 (GRCm38)	missense	probably damaging	1.00
R6670:Cul1	UTSW	6	47,517,134 (GRCm38)	missense	probably damaging	1.00
R6964:Cul1	UTSW	6	47,516,509 (GRCm38)	missense	probably benign	0.01
R8146:Cul1	UTSW	6	47,495,093 (GRCm38)	missense	possibly damaging	0.50
R8373:Cul1	UTSW	6	47,515,063 (GRCm38)	missense	possibly damaging	0.78
R8842:Cul1	UTSW	6	47,515,076 (GRCm38)	missense	probably damaging	1.00
R8899:Cul1	UTSW	6	47,497,312 (GRCm38)	missense	possibly damaging	0.84
R9093:Cul1	UTSW	6	47,518,239 (GRCm38)	missense	probably damaging	1.00
R9352:Cul1	UTSW	6	47,502,492 (GRCm38)	missense	probably benign	0.00
RF001:Cul1	UTSW	6	47,524,581 (GRCm38)	missense	possibly damaging	0.50
RF055:Cul1	UTSW	6	47,517,133 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-05