Mutagenetix > Incidental Mutation

Incidental Mutation 'R2930:Cul7'

264525

Institutional Source

Beutler Lab

Gene Symbol

Cul7

Ensembl Gene

ENSMUSG00000038545

Gene Name

cullin 7

Synonyms

p185, p193, C230011P08Rik, 2510004L20Rik

MMRRC Submission

040512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46961264-46975290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 46962526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 52 (D52E)

Ref Sequence

ENSEMBL: ENSMUSP00000116133 (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 benign
Transcript: ENSMUST00000043464
AA Change: D52E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: D52E

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

noncoding transcript
Transcript: ENSMUST00000132790

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

noncoding transcript
Transcript: ENSMUST00000144966

Predicted Effect

probably benign
Transcript: ENSMUST00000145567
AA Change: D52E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545
AA Change: D52E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146183

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,087,702 (GRCm39)	V1021D	probably damaging	Het
Abcc3	T	C	11: 94,252,636 (GRCm39)	N749S	probably damaging	Het
Adap1	T	C	5: 139,293,621 (GRCm39)	D30G	probably benign	Het
Camk2d	C	A	3: 126,601,880 (GRCm39)	H356Q	possibly damaging	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Cfap74	G	A	4: 155,522,627 (GRCm39)	S671N	probably damaging	Het
Dsn1	T	C	2: 156,847,381 (GRCm39)	D19G	probably damaging	Het
Fndc3b	T	C	3: 27,524,435 (GRCm39)	T442A	probably benign	Het
Hsd3b5	C	T	3: 98,526,528 (GRCm39)	R306H	probably benign	Het
Ilf3	A	G	9: 21,310,886 (GRCm39)	K617E	possibly damaging	Het
Krt75	C	T	15: 101,476,466 (GRCm39)	R433Q	probably benign	Het
Myrfl	C	T	10: 116,653,652 (GRCm39)	V472I	probably damaging	Het
Plxna4	A	G	6: 32,142,715 (GRCm39)	L1580P	probably damaging	Het
Thop1	T	C	10: 80,909,148 (GRCm39)	S60P	probably damaging	Het
Tshz3	G	A	7: 36,471,017 (GRCm39)	R1002Q	possibly damaging	Het
Zbtb4	G	T	11: 69,667,342 (GRCm39)	G216*	probably null	Het
Zfp729b	A	G	13: 67,739,973 (GRCm39)	L764S	probably benign	Het
Zmym4	T	C	4: 126,819,316 (GRCm39)	S196G	probably benign	Het

Other mutations in Cul7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Cul7	APN	17	46,963,434 (GRCm39)	missense	probably damaging	1.00
IGL01288:Cul7	APN	17	46,968,733 (GRCm39)	splice site	probably benign
IGL01669:Cul7	APN	17	46,969,641 (GRCm39)	missense	possibly damaging	0.94
P0019:Cul7	UTSW	17	46,971,173 (GRCm39)	splice site	probably benign
PIT4453001:Cul7	UTSW	17	46,962,746 (GRCm39)	missense	probably damaging	0.99
R0083:Cul7	UTSW	17	46,966,482 (GRCm39)	missense	probably benign	0.00
R0121:Cul7	UTSW	17	46,974,299 (GRCm39)	missense	probably damaging	1.00
R0157:Cul7	UTSW	17	46,964,761 (GRCm39)	missense	possibly damaging	0.93
R0266:Cul7	UTSW	17	46,965,521 (GRCm39)	missense	probably benign	0.00
R0358:Cul7	UTSW	17	46,974,670 (GRCm39)	critical splice donor site	probably null
R0544:Cul7	UTSW	17	46,974,470 (GRCm39)	missense	possibly damaging	0.94
R0565:Cul7	UTSW	17	46,962,929 (GRCm39)	missense	probably damaging	0.98
R0677:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R0696:Cul7	UTSW	17	46,970,534 (GRCm39)	missense	probably damaging	1.00
R0702:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R0735:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R0893:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R0900:Cul7	UTSW	17	46,969,263 (GRCm39)	missense	probably benign	0.36
R0975:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R0976:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R1014:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R1016:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R1104:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R1162:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R1378:Cul7	UTSW	17	46,973,052 (GRCm39)	missense	probably damaging	0.99
R1479:Cul7	UTSW	17	46,962,673 (GRCm39)	missense	probably damaging	1.00
R1498:Cul7	UTSW	17	46,966,636 (GRCm39)	missense	probably benign	0.01
R1521:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R1542:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R1545:Cul7	UTSW	17	46,962,479 (GRCm39)	missense	probably damaging	1.00
R1598:Cul7	UTSW	17	46,974,017 (GRCm39)	missense	probably benign	0.10
R1600:Cul7	UTSW	17	46,962,748 (GRCm39)	nonsense	probably null
R1618:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R1752:Cul7	UTSW	17	46,964,093 (GRCm39)	missense	probably benign	0.10
R1881:Cul7	UTSW	17	46,962,888 (GRCm39)	missense	probably damaging	1.00
R1901:Cul7	UTSW	17	46,966,666 (GRCm39)	missense	probably damaging	1.00
R1902:Cul7	UTSW	17	46,966,666 (GRCm39)	missense	probably damaging	1.00
R1913:Cul7	UTSW	17	46,974,116 (GRCm39)	missense	probably damaging	0.99
R2213:Cul7	UTSW	17	46,962,398 (GRCm39)	missense	probably damaging	0.99
R2370:Cul7	UTSW	17	46,972,567 (GRCm39)	missense	probably damaging	1.00
R2929:Cul7	UTSW	17	46,962,526 (GRCm39)	missense	probably benign	0.00
R2990:Cul7	UTSW	17	46,962,526 (GRCm39)	missense	probably benign	0.00
R2992:Cul7	UTSW	17	46,962,526 (GRCm39)	missense	probably benign	0.00
R4201:Cul7	UTSW	17	46,972,238 (GRCm39)	missense	probably damaging	1.00
R4792:Cul7	UTSW	17	46,967,976 (GRCm39)	nonsense	probably null
R4971:Cul7	UTSW	17	46,970,045 (GRCm39)	missense	probably benign	0.00
R5014:Cul7	UTSW	17	46,966,868 (GRCm39)	makesense	probably null
R5384:Cul7	UTSW	17	46,965,403 (GRCm39)	missense	probably benign	0.44
R5957:Cul7	UTSW	17	46,968,683 (GRCm39)	missense	probably damaging	1.00
R6128:Cul7	UTSW	17	46,962,588 (GRCm39)	missense	probably damaging	1.00
R6294:Cul7	UTSW	17	46,974,074 (GRCm39)	missense	probably benign
R6812:Cul7	UTSW	17	46,972,335 (GRCm39)	missense	probably benign	0.00
R7073:Cul7	UTSW	17	46,969,657 (GRCm39)	missense	probably damaging	1.00
R7112:Cul7	UTSW	17	46,962,624 (GRCm39)	missense	probably damaging	1.00
R7246:Cul7	UTSW	17	46,972,993 (GRCm39)	missense	probably benign	0.04
R7361:Cul7	UTSW	17	46,967,933 (GRCm39)	missense	probably damaging	1.00
R7567:Cul7	UTSW	17	46,965,521 (GRCm39)	missense	probably benign	0.00
R7682:Cul7	UTSW	17	46,966,521 (GRCm39)	missense	probably benign
R7689:Cul7	UTSW	17	46,963,747 (GRCm39)	nonsense	probably null
R7797:Cul7	UTSW	17	46,969,568 (GRCm39)	missense	possibly damaging	0.65
R7897:Cul7	UTSW	17	46,968,931 (GRCm39)	missense	probably benign
R8783:Cul7	UTSW	17	46,966,575 (GRCm39)	missense	probably benign
R9047:Cul7	UTSW	17	46,965,448 (GRCm39)	missense	probably benign	0.01
R9167:Cul7	UTSW	17	46,966,623 (GRCm39)	missense	probably benign	0.14
R9614:Cul7	UTSW	17	46,975,212 (GRCm39)	missense	probably damaging	1.00
Z1177:Cul7	UTSW	17	46,970,495 (GRCm39)	missense	probably damaging	0.99
Z1177:Cul7	UTSW	17	46,969,664 (GRCm39)	missense	probably damaging	0.99
Z1177:Cul7	UTSW	17	46,963,731 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTGTGTGTCTCAGGTGCCAC -3'
(R):5'- AGGCACTGAGTACATGGACC -3'

Sequencing Primer
(F):5'- TCTCAGGTGCCACGATGGTAG -3'
(R):5'- GGCCCTCTGAATCAAGGACTTC -3'

Posted On

2015-02-05