Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Cul7'

555362

Institutional Source

Beutler Lab

Gene Symbol

Cul7

Ensembl Gene

ENSMUSG00000038545

Gene Name

cullin 7

Synonyms

p185, 2510004L20Rik, C230011P08Rik, p193

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4453001 (G1)

Quality Score

91.0077

Status

Not validated

Chromosome

Chromosomal Location

46650337-46664364 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46651820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 126 (C126S)

Ref Sequence

ENSEMBL: ENSMUSP00000049128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002844] [ENSMUST00000043464] [ENSMUST00000113429] [ENSMUST00000113430] [ENSMUST00000133393] [ENSMUST00000145567]

AlphaFold

Q8VE73

Predicted Effect

probably benign
Transcript: ENSMUST00000002844

SMART Domains

Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Ribosomal_L2	84	166	3.44e-29	SMART
Ribosomal_L2_C	177	298	1.32e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000043464
AA Change: C126S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: C126S

Domain	Start	End	E-Value	Type
low complexity region	46	54	N/A	INTRINSIC
low complexity region	218	229	N/A	INTRINSIC
low complexity region	315	324	N/A	INTRINSIC
Pfam:Cul7	349	423	5.7e-34	PFAM
low complexity region	462	476	N/A	INTRINSIC
low complexity region	603	618	N/A	INTRINSIC
low complexity region	635	648	N/A	INTRINSIC
APC10	811	973	9.35e-49	SMART
low complexity region	983	993	N/A	INTRINSIC
low complexity region	1063	1074	N/A	INTRINSIC
low complexity region	1301	1318	N/A	INTRINSIC
low complexity region	1335	1370	N/A	INTRINSIC
Blast:Cullin_Nedd8	1550	1633	1e-41	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113429

SMART Domains

Protein: ENSMUSP00000109056
Gene: ENSMUSG00000002767

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Ribosomal_L2	84	166	1.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113430

SMART Domains

Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Ribosomal_L2	82	164	1.6e-31	PFAM
Pfam:Ribosomal_L2_C	175	279	5.6e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133393

SMART Domains

Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545

Domain	Start	End	E-Value	Type
low complexity region	17	26	N/A	INTRINSIC
Pfam:Cul7	51	126	8e-34	PFAM
low complexity region	164	178	N/A	INTRINSIC
low complexity region	305	320	N/A	INTRINSIC
low complexity region	337	350	N/A	INTRINSIC
SCOP:d1gqpa_	487	568	1e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000145567
AA Change: C126S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545
AA Change: C126S

Domain	Start	End	E-Value	Type
low complexity region	46	54	N/A	INTRINSIC
SCOP:d1jdha_	63	222	2e-4	SMART
low complexity region	315	324	N/A	INTRINSIC
Pfam:Cul7	349	424	9.5e-34	PFAM
low complexity region	462	476	N/A	INTRINSIC

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: During late gestation, homozygous null fetuses display reduced growth associated with abnormal placental development and hemorrhaging due to vascular defects. Mutant mice are born but die shortly after birth, succumbing to respiratory distress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	probably benign	Het

Other mutations in Cul7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Cul7	APN	17	46652508	missense	probably damaging	1.00
IGL01288:Cul7	APN	17	46657807	splice site	probably benign
IGL01669:Cul7	APN	17	46658715	missense	possibly damaging	0.94
P0019:Cul7	UTSW	17	46660247	splice site	probably benign
R0083:Cul7	UTSW	17	46655556	missense	probably benign	0.00
R0121:Cul7	UTSW	17	46663373	missense	probably damaging	1.00
R0157:Cul7	UTSW	17	46653835	missense	possibly damaging	0.93
R0266:Cul7	UTSW	17	46654595	missense	probably benign	0.00
R0358:Cul7	UTSW	17	46663744	critical splice donor site	probably null
R0544:Cul7	UTSW	17	46663544	missense	possibly damaging	0.94
R0565:Cul7	UTSW	17	46652003	missense	probably damaging	0.98
R0677:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R0696:Cul7	UTSW	17	46659608	missense	probably damaging	1.00
R0702:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R0735:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R0893:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R0900:Cul7	UTSW	17	46658337	missense	probably benign	0.36
R0975:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R0976:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R1014:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R1016:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R1104:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R1162:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R1378:Cul7	UTSW	17	46662126	missense	probably damaging	0.99
R1479:Cul7	UTSW	17	46651747	missense	probably damaging	1.00
R1498:Cul7	UTSW	17	46655710	missense	probably benign	0.01
R1521:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R1542:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R1545:Cul7	UTSW	17	46651553	missense	probably damaging	1.00
R1598:Cul7	UTSW	17	46663091	missense	probably benign	0.10
R1600:Cul7	UTSW	17	46651822	nonsense	probably null
R1618:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R1752:Cul7	UTSW	17	46653167	missense	probably benign	0.10
R1881:Cul7	UTSW	17	46651962	missense	probably damaging	1.00
R1901:Cul7	UTSW	17	46655740	missense	probably damaging	1.00
R1902:Cul7	UTSW	17	46655740	missense	probably damaging	1.00
R1913:Cul7	UTSW	17	46663190	missense	probably damaging	0.99
R2213:Cul7	UTSW	17	46651472	missense	probably damaging	0.99
R2370:Cul7	UTSW	17	46661641	missense	probably damaging	1.00
R2929:Cul7	UTSW	17	46651600	missense	probably benign	0.00
R2930:Cul7	UTSW	17	46651600	missense	probably benign	0.00
R2990:Cul7	UTSW	17	46651600	missense	probably benign	0.00
R2992:Cul7	UTSW	17	46651600	missense	probably benign	0.00
R4201:Cul7	UTSW	17	46661312	missense	probably damaging	1.00
R4792:Cul7	UTSW	17	46657050	nonsense	probably null
R4971:Cul7	UTSW	17	46659119	missense	probably benign	0.00
R5014:Cul7	UTSW	17	46655942	makesense	probably null
R5384:Cul7	UTSW	17	46654477	missense	probably benign	0.44
R5957:Cul7	UTSW	17	46657757	missense	probably damaging	1.00
R6128:Cul7	UTSW	17	46651662	missense	probably damaging	1.00
R6294:Cul7	UTSW	17	46663148	missense	probably benign
R6812:Cul7	UTSW	17	46661409	missense	probably benign	0.00
R7073:Cul7	UTSW	17	46658731	missense	probably damaging	1.00
R7112:Cul7	UTSW	17	46651698	missense	probably damaging	1.00
R7246:Cul7	UTSW	17	46662067	missense	probably benign	0.04
R7361:Cul7	UTSW	17	46657007	missense	probably damaging	1.00
R7567:Cul7	UTSW	17	46654595	missense	probably benign	0.00
R7682:Cul7	UTSW	17	46655595	missense	probably benign
R7689:Cul7	UTSW	17	46652821	nonsense	probably null
R7797:Cul7	UTSW	17	46658642	missense	possibly damaging	0.65
R7897:Cul7	UTSW	17	46658005	missense	probably benign
R8783:Cul7	UTSW	17	46655649	missense	probably benign
R9047:Cul7	UTSW	17	46654522	missense	probably benign	0.01
R9167:Cul7	UTSW	17	46655697	missense	probably benign	0.14
R9614:Cul7	UTSW	17	46664286	missense	probably damaging	1.00
Z1177:Cul7	UTSW	17	46652805	frame shift	probably null
Z1177:Cul7	UTSW	17	46658738	missense	probably damaging	0.99
Z1177:Cul7	UTSW	17	46659569	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAGCATATCCTGTTATGGATGTC -3'
(R):5'- AATGTCCCTCACCAGCATCG -3'

Sequencing Primer
(F):5'- GTCTGACGATGAGATCTATGCCAAC -3'
(R):5'- ACAGAGCTTGGATCATCCGG -3'

Posted On

2019-06-07