Mutagenetix > Incidental Mutation

Incidental Mutation 'R7361:Cul7'

571384

Institutional Source

Beutler Lab

Gene Symbol

Cul7

Ensembl Gene

ENSMUSG00000038545

Gene Name

cullin 7

Synonyms

p185, p193, C230011P08Rik, 2510004L20Rik

MMRRC Submission

045447-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46961264-46975290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46967933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 707 (L707Q)

Ref Sequence

ENSEMBL: ENSMUSP00000049128 (fasta)

Gene Model

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

AlphaFold

Q8VE73

Predicted Effect

probably damaging
Transcript: ENSMUST00000043464
AA Change: L707Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: L707Q

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 damaging
Transcript: ENSMUST00000133393
AA Change: L409Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545
AA Change: L409Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	C	T	6: 132,604,434 (GRCm39)	V4I	unknown	Het
Actn1	A	T	12: 80,240,489 (GRCm39)	D199E	probably benign	Het
Adam17	T	C	12: 21,375,602 (GRCm39)	D739G	probably damaging	Het
Agmat	T	C	4: 141,474,163 (GRCm39)	S15P	probably benign	Het
Ahsa2	A	G	11: 23,441,099 (GRCm39)	S229P	probably damaging	Het
Arhgef3	A	G	14: 26,987,535 (GRCm39)	D36G	possibly damaging	Het
C6	C	A	15: 4,826,404 (GRCm39)	Y662*	probably null	Het
Ccs	T	C	19: 4,883,378 (GRCm39)	D140G	probably benign	Het
Cdc42bpb	A	G	12: 111,312,039 (GRCm39)	L65P	probably damaging	Het
Cdh24	A	T	14: 54,876,378 (GRCm39)	V149E	possibly damaging	Het
Cdk12	C	A	11: 98,101,294 (GRCm39)	S384*	probably null	Het
Cep350	G	A	1: 155,777,237 (GRCm39)	A1701V	probably damaging	Het
Ces1g	T	C	8: 94,060,307 (GRCm39)	Q104R	not run	Het
Chd5	A	G	4: 152,447,745 (GRCm39)	H537R	probably damaging	Het
Cln5	T	A	14: 103,313,339 (GRCm39)	V197D	probably damaging	Het
Coq7	A	G	7: 118,128,798 (GRCm39)	V79A	probably benign	Het
Cp	A	T	3: 20,018,470 (GRCm39)	N58I	probably benign	Het
Cplx2	A	T	13: 54,526,639 (GRCm39)	M16L	probably benign	Het
Crot	A	G	5: 9,027,534 (GRCm39)	L266S	probably damaging	Het
Ctbs	T	A	3: 146,164,509 (GRCm39)	Y221N	probably damaging	Het
D430041D05Rik	G	A	2: 104,085,363 (GRCm39)	T378I	possibly damaging	Het
Dixdc1	T	C	9: 50,599,953 (GRCm39)	I364V	probably damaging	Het
Dnah11	T	A	12: 117,982,477 (GRCm39)	H2564L	probably damaging	Het
Dnajc3	T	C	14: 119,175,576 (GRCm39)	Y26H	probably benign	Het
Dpysl2	G	A	14: 67,071,664 (GRCm39)	H159Y	possibly damaging	Het
Ehmt1	T	A	2: 24,746,713 (GRCm39)	K423I	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,170 (GRCm39)	N11D	unknown	Het
Enpp7	A	G	11: 118,882,985 (GRCm39)	N353S	probably benign	Het
Ext1	G	A	15: 53,208,119 (GRCm39)	A214V	probably damaging	Het
Fbh1	A	T	2: 11,751,887 (GRCm39)	I937N	probably damaging	Het
Fbxo39	T	C	11: 72,207,800 (GRCm39)	Y51H	possibly damaging	Het
Firrm	A	T	1: 163,813,602 (GRCm39)	D207E	possibly damaging	Het
Fry	A	G	5: 150,360,312 (GRCm39)	H1986R	possibly damaging	Het
Grem2	T	C	1: 174,664,514 (GRCm39)	K112E	probably benign	Het
Gucy1a1	A	G	3: 82,005,027 (GRCm39)	V586A	probably damaging	Het
Il12rb2	G	T	6: 67,280,450 (GRCm39)	L586I	possibly damaging	Het
Il18	T	C	9: 50,490,614 (GRCm39)	I83T	probably damaging	Het
Irs1	A	T	1: 82,266,835 (GRCm39)	Y460*	probably null	Het
Jak1	G	T	4: 101,041,536 (GRCm39)	Q161K	possibly damaging	Het
Jakmip1	T	A	5: 37,276,148 (GRCm39)	L486Q	probably damaging	Het
Jmjd1c	C	A	10: 67,054,143 (GRCm39)	Q16K	probably benign	Het
Kidins220	T	C	12: 25,106,999 (GRCm39)	L1393P	probably benign	Het
Klhl24	A	C	16: 19,936,750 (GRCm39)	I453L	probably benign	Het
Krtap2-4	C	T	11: 99,505,420 (GRCm39)	D64N	probably damaging	Het
Man1a	T	A	10: 53,784,105 (GRCm39)	D592V	probably damaging	Het
Mepe	T	A	5: 104,485,009 (GRCm39)	Y50N	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Muc4	T	A	16: 32,754,670 (GRCm38)	S1515T	probably benign	Het
Nalcn	T	C	14: 123,529,251 (GRCm39)	D1408G	probably benign	Het
Nav1	T	C	1: 135,380,591 (GRCm39)	M1443V	unknown	Het
Nckap1l	A	C	15: 103,379,709 (GRCm39)	N332T	possibly damaging	Het
Neurl4	T	A	11: 69,802,905 (GRCm39)	L1467Q	probably benign	Het
Notch2	A	G	3: 98,038,718 (GRCm39)	N1287S	probably benign	Het
Nr4a3	C	T	4: 48,083,203 (GRCm39)	P579S	probably benign	Het
Nrxn2	A	T	19: 6,567,112 (GRCm39)	H1329L	probably benign	Het
Nynrin	A	T	14: 56,107,857 (GRCm39)	H988L	possibly damaging	Het
Or1e34	T	A	11: 73,778,827 (GRCm39)	I124F	probably damaging	Het
Or4c31	A	G	2: 88,291,836 (GRCm39)	T70A	probably benign	Het
Or4c3d	A	G	2: 89,882,089 (GRCm39)	I193T	probably benign	Het
Or52e3	G	T	7: 102,869,830 (GRCm39)	D302Y	possibly damaging	Het
Or7g35	T	A	9: 19,495,856 (GRCm39)	F8I	probably benign	Het
Pclo	G	A	5: 14,843,882 (GRCm39)	S1534N	probably damaging	Het
Pign	A	G	1: 105,512,778 (GRCm39)	V635A	probably benign	Het
Pkhd1	T	C	1: 20,664,177 (GRCm39)	T134A	probably damaging	Het
Plcb4	A	T	2: 135,818,068 (GRCm39)	N790I	possibly damaging	Het
Plxna2	G	T	1: 194,482,087 (GRCm39)	C1453F	probably damaging	Het
Plxna4	A	G	6: 32,173,057 (GRCm39)		probably null	Het
Pnpla2	A	G	7: 141,037,344 (GRCm39)	I116V	possibly damaging	Het
Polq	A	G	16: 36,880,790 (GRCm39)	T985A	probably benign	Het
Pramel11	T	C	4: 143,622,456 (GRCm39)	T300A	possibly damaging	Het
Prex1	T	C	2: 166,555,490 (GRCm39)	N50S	probably benign	Het
Ptgfrn	G	A	3: 100,984,760 (GRCm39)	A144V	probably benign	Het
Rad54b	G	A	4: 11,599,782 (GRCm39)	G329S	probably damaging	Het
Rrbp1	A	G	2: 143,809,364 (GRCm39)	L931S	probably benign	Het
Saxo4	T	G	19: 10,456,943 (GRCm39)	D134A	probably damaging	Het
Sipa1l2	A	G	8: 126,180,071 (GRCm39)	S1109P	probably damaging	Het
Slc26a7	G	T	4: 14,546,305 (GRCm39)	N341K	probably damaging	Het
Smg1	A	C	7: 117,784,200 (GRCm39)	D958E	unknown	Het
Smg6	T	A	11: 74,820,979 (GRCm39)	S417T	probably benign	Het
Srgap3	A	G	6: 112,723,882 (GRCm39)	V550A	probably damaging	Het
Terb1	T	A	8: 105,195,431 (GRCm39)	D570V	probably damaging	Het
Tet3	A	G	6: 83,345,076 (GRCm39)	V1787A	probably benign	Het
Tor1a	A	T	2: 30,853,753 (GRCm39)	D192E	probably benign	Het
Tpr	T	C	1: 150,323,372 (GRCm39)	S2379P	possibly damaging	Het
Trip12	A	T	1: 84,728,163 (GRCm39)	F1138L	probably damaging	Het
Trpv1	T	C	11: 73,151,203 (GRCm39)	L797P	probably damaging	Het
Tut1	T	C	19: 8,942,698 (GRCm39)	L595P	probably damaging	Het
Ubl7	T	C	9: 57,821,905 (GRCm39)	S85P	probably damaging	Het
Urb1	C	A	16: 90,571,656 (GRCm39)	S1051I	probably damaging	Het
Usp17le	A	G	7: 104,418,084 (GRCm39)	W353R	probably damaging	Het
Usp44	T	C	10: 93,682,330 (GRCm39)	L260S	probably benign	Het
Wsb1	T	A	11: 79,131,623 (GRCm39)		probably null	Het
Xrcc2	A	T	5: 25,897,755 (GRCm39)	C65S	probably damaging	Het
Zfp316	T	A	5: 143,240,430 (GRCm39)	M530L	probably benign	Het
Zfp473	T	C	7: 44,382,563 (GRCm39)	H590R	probably damaging	Het
Zfp983	T	A	17: 21,880,850 (GRCm39)	H259Q	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
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
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
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'- ACCCTGCAACTGGTTCTTGG -3'
(R):5'- GGCATGCTTCTCACACTTGG -3'

Sequencing Primer
(F):5'- ACACTCGGTGGCTGAGAG -3'
(R):5'- TTGGACACCATATCCCGCAG -3'

Posted On

2019-09-13