Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Cul7'

688153

Institutional Source

Beutler Lab

Gene Symbol

Cul7

Ensembl Gene

ENSMUSG00000038545

Gene Name

cullin 7

Synonyms

p185, 2510004L20Rik, C230011P08Rik, p193

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46650337-46664364 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46654522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 542 (E542G)

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 benign
Transcript: ENSMUST00000043464
AA Change: E542G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: E542G

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
AA Change: E244G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545
AA Change: E244G

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 benign
Transcript: ENSMUST00000145567
AA Change: E542G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545
AA Change: E542G

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

Validation Efficiency

100% (76/76)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adra1a	T	A	14: 66,638,185	M203K	probably damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Aplf	T	C	6: 87,663,797	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
Atp11b	A	G	3: 35,806,889	D375G	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr153	T	C	4: 152,280,207	L240P	probably damaging	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,300,279	V714L	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Sh3tc1	C	A	5: 35,706,483	A787S	probably benign	Het
Skint5	T	A	4: 113,655,722	N871I	unknown	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tiam1	A	C	16: 89,804,888		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	probably damaging	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
PIT4453001:Cul7	UTSW	17	46651820	missense	probably damaging	0.99
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
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'- TTCAGAGATGCAAGGGTCGG -3'
(R):5'- TTTCCCAAAGGCAGGTCTCTC -3'

Sequencing Primer
(F):5'- TGCCAGCCACAAGAGGTTCAG -3'
(R):5'- AGGTCTCTCTGCTGCTGTCTG -3'

Posted On

2021-11-19