Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01669:Cul7'

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103424

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cul7

Ensembl Gene

ENSMUSG00000038545

Gene Name

cullin 7

Synonyms

p185, 2510004L20Rik, C230011P08Rik, p193

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

46650337-46664364 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46658715 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 969 (M969I)

Ref Sequence

ENSEMBL: ENSMUSP00000049128 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043464
AA Change: M969I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: M969I

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

noncoding transcript
Transcript: ENSMUST00000125949

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

SMART Domains

Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545

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

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	G	T	X: 142,343,188	D313E	probably damaging	Het
Aifm3	A	C	16: 17,503,541	K453T	probably benign	Het
Anks1b	T	C	10: 90,897,238		probably benign	Het
Arfgef1	T	C	1: 10,159,615	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,812,491	Q140*	probably null	Het
Bnipl	T	G	3: 95,242,734	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,391,757	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,681,195	A749V	probably damaging	Het
Ceacam18	G	A	7: 43,645,515	G333E	probably damaging	Het
Cylc2	A	G	4: 51,228,360	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,098,051	H294L	probably damaging	Het
D430041D05Rik	T	C	2: 104,254,961	K1081R	probably damaging	Het
D930020B18Rik	A	G	10: 121,683,961	K456R	probably benign	Het
Drd2	A	G	9: 49,402,089	N186S	possibly damaging	Het
Fanci	A	T	7: 79,449,177	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,527,709		probably benign	Het
Galk2	T	A	2: 125,887,887	Y63N	probably damaging	Het
Git2	T	C	5: 114,767,105	D97G	probably damaging	Het
Gm8258	T	A	5: 104,776,074		noncoding transcript	Het
Irf4	G	T	13: 30,757,471	S270I	probably damaging	Het
Itgb3	C	A	11: 104,633,390		probably benign	Het
Itpr2	A	C	6: 146,180,229	I2299R	probably damaging	Het
Lig4	T	C	8: 9,973,673	I36V	probably benign	Het
Nedd9	A	G	13: 41,338,635	V133A	probably damaging	Het
Nup133	A	C	8: 123,939,130	Y185*	probably null	Het
Olfr1162	T	C	2: 88,049,784	Y280C	possibly damaging	Het
Olfr623	A	T	7: 103,660,987	F88I	probably benign	Het
Olfr788	A	G	10: 129,473,211	H173R	probably damaging	Het
Pgbd5	T	A	8: 124,374,399	T373S	possibly damaging	Het
Ppp1r8	T	C	4: 132,828,169	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,627,900	V89M	probably damaging	Het
Rnf123	T	C	9: 108,058,356	I969V	probably damaging	Het
Ror2	A	G	13: 53,111,088	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,263,490	E503G	probably benign	Het
Smgc	T	A	15: 91,860,684	S381T	possibly damaging	Het
Tlr4	T	G	4: 66,841,267	F766V	possibly damaging	Het
Tnc	T	C	4: 64,000,701	T1162A	probably damaging	Het
Usp39	A	G	6: 72,338,493	V156A	probably damaging	Het
Zdhhc5	A	G	2: 84,691,194	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,878,965	T105A	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
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
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

Posted On

2014-01-21