Mutagenetix > Incidental Mutation

Incidental Mutation 'R9352:Cul1'

708124

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47502492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 231 (S231T)

Ref Sequence

ENSEMBL: ENSMUSP00000031697 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably benign
Transcript: ENSMUST00000031697
AA Change: S231T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: S231T

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: S231T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: S231T

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,334,682	F1500S	probably damaging	Het
Adamtsl3	A	T	7: 82,442,448	Q123L	probably damaging	Het
Adarb2	T	A	13: 8,757,392	L743Q	probably damaging	Het
Alpk2	C	A	18: 65,306,712	D537Y	probably benign	Het
Anxa4	C	T	6: 86,765,793		probably benign	Het
Arfgap3	T	A	15: 83,306,926	I464L	possibly damaging	Het
Asb2	C	T	12: 103,330,439	V320I	probably damaging	Het
Axl	T	C	7: 25,763,327	T659A	possibly damaging	Het
Bbof1	A	G	12: 84,414,620	H139R	probably benign	Het
Birc6	G	A	17: 74,658,352		probably null	Het
Cdh23	G	A	10: 60,307,527	A3005V	possibly damaging	Het
Chil3	A	T	3: 106,160,471	F126Y	probably damaging	Het
Chrnb4	T	A	9: 55,043,883	D32V	probably benign	Het
Chst15	C	A	7: 132,270,528	C8F	probably damaging	Het
Cntnap5c	A	G	17: 58,092,468	I439V	probably benign	Het
Crisp2	T	A	17: 40,767,309	N194I	probably damaging	Het
Csrnp1	G	A	9: 119,972,931	T354M	probably benign	Het
Cyp27a1	C	T	1: 74,713,761	T44M	possibly damaging	Het
Dgkg	T	C	16: 22,579,831	D232G	probably damaging	Het
Dnah1	G	T	14: 31,316,663	Q154K	probably benign	Het
Dnmt1	A	G	9: 20,929,088	V304A	probably benign	Het
Dok6	T	C	18: 89,474,009	N148S	probably benign	Het
Fam71e2	T	A	7: 4,758,606	Y369F		Het
Fnta	A	T	8: 26,011,091	W134R	probably damaging	Het
Gm32742	T	G	9: 51,141,244	Q1441P	possibly damaging	Het
Gm3486	T	C	14: 41,486,361	Q131R	possibly damaging	Het
Gnptab	A	G	10: 88,432,488	N486D	probably benign	Het
H2-Q4	T	G	17: 35,382,933	F257C	probably damaging	Het
Hfe	A	G	13: 23,706,136	V218A	probably benign	Het
Htr2b	A	G	1: 86,099,572	V404A	probably benign	Het
Hyou1	T	A	9: 44,389,629		probably null	Het
Ikbkb	T	C	8: 22,660,428	D746G	probably benign	Het
Ikzf4	T	C	10: 128,636,754	N251S	probably benign	Het
Il23r	A	C	6: 67,426,608	N436K	probably damaging	Het
Impg2	A	T	16: 56,252,107	I301L	probably benign	Het
Irf4	A	T	13: 30,752,723	M146L	probably benign	Het
Iws1	G	A	18: 32,080,160	E214K	possibly damaging	Het
Kctd3	T	C	1: 188,972,580	S665G	probably damaging	Het
Kiz	T	C	2: 146,953,007	S596P	probably damaging	Het
Kpna2	T	C	11: 106,989,466	E452G	probably damaging	Het
Lclat1	A	G	17: 73,161,942	Y39C	probably damaging	Het
Lig3	A	G	11: 82,796,145	S705G	probably benign	Het
Lrp1b	T	C	2: 40,858,426	D3134G		Het
Map3k8	C	T	18: 4,349,170	M49I	probably benign	Het
Mep1b	A	G	18: 21,076,374	D54G	probably damaging	Het
Mgat5b	T	A	11: 116,966,707	S342R	probably benign	Het
Mthfd2l	G	T	5: 90,961,313	V201L	possibly damaging	Het
Naip6	G	T	13: 100,301,385	T371K	possibly damaging	Het
Naxd	T	C	8: 11,505,504	I104T	probably damaging	Het
Nbeal2	T	A	9: 110,627,848	I2361F	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr145	A	G	9: 37,897,416	E4G	probably benign	Het
Olfr23	A	G	11: 73,940,644	T133A	probably benign	Het
Olfr790	A	T	10: 129,501,495	M196L	probably benign	Het
Olfr894	T	G	9: 38,219,387	L185R	probably damaging	Het
Pga5	C	T	19: 10,669,533	G303S	probably damaging	Het
Polq	T	C	16: 37,041,890	F591L	probably damaging	Het
Ppp2r1a	A	T	17: 20,965,237		probably null	Het
Prrc1	A	G	18: 57,389,245	Y383C	probably damaging	Het
Ptgfr	A	T	3: 151,835,523	V116D	probably damaging	Het
Qpctl	C	T	7: 19,144,674	R292Q	possibly damaging	Het
Rasip1	G	A	7: 45,628,856	V194M	possibly damaging	Het
Rbbp4	A	T	4: 129,317,705	N385K	probably benign	Het
Rbbp8nl	A	G	2: 180,279,260	S444P	probably benign	Het
Sf3a1	G	A	11: 4,160,494	A3T	unknown	Het
Slc1a4	A	G	11: 20,332,025	S150P	probably damaging	Het
Slc28a2	T	C	2: 122,451,041		probably null	Het
Slc30a5	A	G	13: 100,803,872	I702T	probably benign	Het
Slc36a4	T	A	9: 15,722,023		probably null	Het
Slf2	A	G	19: 44,943,518	R671G	probably null	Het
Smarcc1	A	G	9: 110,206,152	K881R	probably null	Het
Srsf11	A	G	3: 158,012,199	V414A	unknown	Het
Tcn2	T	C	11: 3,923,446	N300S	probably damaging	Het
Tecta	T	C	9: 42,337,851	K1905R	probably damaging	Het
Tex30	T	G	1: 44,091,593		probably null	Het
Tktl2	A	T	8: 66,513,322	I511F	possibly damaging	Het
Tpp1	G	T	7: 105,749,674	Q183K	probably benign	Het
Trib2	A	C	12: 15,815,412	I30R	probably benign	Het
Tti1	A	G	2: 158,000,772	L779P	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unc13b	GAGCCA	GAGCCATAGCCA	4: 43,177,313		probably null	Het
Vmn2r112	A	G	17: 22,603,498	T386A	probably damaging	Het
Vps16	T	C	2: 130,441,903		probably null	Het
Zan	T	G	5: 137,436,483	N2186T	unknown	Het
Zdhhc11	C	T	13: 73,973,681	R104*	probably null	Het
Zfp318	T	G	17: 46,410,358	H1176Q	probably damaging	Het
Zfp335	G	A	2: 164,900,322	H581Y	probably damaging	Het
Zfp7	T	C	15: 76,891,474	I572T	probably damaging	Het
Zfp955a	T	C	17: 33,242,361	T266A	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
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
RF001:Cul1	UTSW	6	47524581	missense	possibly damaging	0.50
RF055:Cul1	UTSW	6	47517133	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCACAAGCATACTTCAATACTAG -3'
(R):5'- ACAGCAGTGACAAGCCTGAC -3'

Sequencing Primer
(F):5'- TTACAACCCACCATTTCACATTG -3'
(R):5'- CAGTGACAAGCCTGACTGGTG -3'

Posted On

2022-04-18