Mutagenetix > Incidental Mutation

Incidental Mutation 'R1016:Cul7'

96360

Institutional Source

Beutler Lab

Gene Symbol

Cul7

Ensembl Gene

ENSMUSG00000038545

Gene Name

cullin 7

Synonyms

p185, p193, C230011P08Rik, 2510004L20Rik

MMRRC Submission

039120-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1016 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

46961264-46975290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46974116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1467 (L1467H)

Ref Sequence

ENSEMBL: ENSMUSP00000049128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024766] [ENSMUST00000043464] [ENSMUST00000133393] [ENSMUST00000145567]

AlphaFold

Q8VE73

Predicted Effect

probably benign
Transcript: ENSMUST00000024766

SMART Domains

Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971

Domain	Start	End	E-Value	Type
Pfam:DUF947	55	219	7.6e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000043464
AA Change: L1467H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: L1467H

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

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 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: ENSMUST00000181301

Meta Mutation Damage Score

0.4846

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.3%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ceacam20	T	A	7: 19,710,227 (GRCm39)	H6Q	probably null	Het
Clstn1	T	C	4: 149,731,286 (GRCm39)	I866T	probably benign	Het
Cntnap1	T	C	11: 101,068,333 (GRCm39)	V86A	probably damaging	Het
Crtc1	A	T	8: 70,844,769 (GRCm39)	Y351*	probably null	Het
Cyp2j12	C	T	4: 96,001,102 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,652,938 (GRCm39)	K183N	probably damaging	Het
Fancl	G	T	11: 26,337,195 (GRCm39)		probably benign	Het
Fbxo40	G	A	16: 36,789,539 (GRCm39)	Q524*	probably null	Het
Flcn	T	C	11: 59,686,691 (GRCm39)		probably null	Het
Gm19965	T	A	1: 116,749,031 (GRCm39)	C237*	probably null	Het
Hpf1	A	G	8: 61,348,678 (GRCm39)	Y131C	possibly damaging	Het
Mdh1	A	G	11: 21,509,769 (GRCm39)	L202P	probably benign	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Mtus1	A	G	8: 41,503,063 (GRCm39)	V784A	probably benign	Het
Myg1	T	C	15: 102,242,786 (GRCm39)	I159T	possibly damaging	Het
Nans	T	C	4: 46,500,716 (GRCm39)	Y203H	probably benign	Het
Ncapg2	G	A	12: 116,402,295 (GRCm39)	C709Y	probably damaging	Het
Or8b36	T	C	9: 37,937,987 (GRCm39)	V295A	probably damaging	Het
Parp12	T	C	6: 39,088,660 (GRCm39)	Y192C	probably damaging	Het
Plekha6	A	G	1: 133,187,832 (GRCm39)	N118D	probably benign	Het
Prg4	T	C	1: 150,330,442 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,378,135 (GRCm39)	T454A	possibly damaging	Het
Ptprz1	T	C	6: 23,000,973 (GRCm39)	L1021P	probably damaging	Het
Pvr	T	C	7: 19,643,142 (GRCm39)	I364V	probably benign	Het
Serpina5	A	G	12: 104,071,582 (GRCm39)	I396M	probably damaging	Het
Sgcb	A	C	5: 73,797,183 (GRCm39)	H192Q	probably benign	Het
Slc4a9	C	A	18: 36,664,478 (GRCm39)	H379N	probably benign	Het
Tet1	T	C	10: 62,715,729 (GRCm39)	D22G	probably benign	Het
Trim34a	T	C	7: 103,897,167 (GRCm39)	V77A	probably benign	Het
Ttc7b	T	C	12: 100,369,617 (GRCm39)	E384G	probably null	Het
Vmn2r16	G	A	5: 109,487,754 (GRCm39)	G209D	probably damaging	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
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
R2930: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'- ATCAGAAGCCATCGTGCCCAGAAG -3'
(R):5'- ATTCCTGACTCAGAGCAGTCTGCC -3'

Sequencing Primer
(F):5'- ATCGTGCCCAGAAGTCCTG -3'
(R):5'- CAAAGAGTTTAGATCCTCGGGG -3'

Posted On

2014-01-05