Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Cul7'

212271

Institutional Source

Beutler Lab

Gene Symbol

Cul7

Ensembl Gene

ENSMUSG00000038545

Gene Name

cullin 7

Synonyms

p185, p193, C230011P08Rik, 2510004L20Rik

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46961264-46975290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46966666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 365 (L365P)

Ref Sequence

ENSEMBL: ENSMUSP00000119393 (fasta)

Gene Model

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

AlphaFold

Q8VE73

Predicted Effect

probably damaging
Transcript: ENSMUST00000043464
AA Change: L663P

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

SMART Domains

Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: L663P

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: ENSMUST00000132790

Predicted Effect

probably damaging
Transcript: ENSMUST00000133393
AA Change: L365P

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

SMART Domains

Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545
AA Change: L365P

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

silent
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

1x: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,945,322 (GRCm39)	E466G	probably damaging	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Acta1	A	T	8: 124,619,900 (GRCm39)	S147T	probably benign	Het
Adh1	G	A	3: 137,994,558 (GRCm39)	V293I	probably benign	Het
Aldh3b3	T	C	19: 4,015,130 (GRCm39)	Y170H	probably damaging	Het
Ank3	A	T	10: 69,658,167 (GRCm39)	T198S	probably damaging	Het
Ankrd12	A	T	17: 66,293,698 (GRCm39)	N578K	possibly damaging	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,576,078 (GRCm39)	I88K	unknown	Het
Col1a1	G	A	11: 94,837,458 (GRCm39)		probably null	Het
Col5a1	A	G	2: 27,850,456 (GRCm39)	T518A	unknown	Het
Dlec1	T	C	9: 118,931,712 (GRCm39)	S44P	probably damaging	Het
Dock9	T	C	14: 121,862,565 (GRCm39)		probably null	Het
Fbxl9	T	C	8: 106,039,707 (GRCm39)	N556S	probably damaging	Het
Flrt2	C	A	12: 95,745,904 (GRCm39)	P81T	probably damaging	Het
Flrt2	C	T	12: 95,745,905 (GRCm39)	P81L	probably damaging	Het
Ginm1	A	G	10: 7,650,980 (GRCm39)		probably null	Het
Glis3	T	C	19: 28,508,985 (GRCm39)	N333S	probably damaging	Het
Glo1	T	G	17: 30,815,382 (GRCm39)	E144D	probably benign	Het
Golga1	A	T	2: 38,937,792 (GRCm39)		probably null	Het
H2-Aa	A	G	17: 34,502,207 (GRCm39)	I155T	possibly damaging	Het
Haus5	A	G	7: 30,356,670 (GRCm39)	S479P	probably damaging	Het
Il10ra	A	T	9: 45,167,654 (GRCm39)	V299D	probably benign	Het
Il17re	T	C	6: 113,446,665 (GRCm39)	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Inppl1	T	C	7: 101,472,584 (GRCm39)	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,119,427 (GRCm39)	L304P	probably damaging	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Med15	G	T	16: 17,491,018 (GRCm39)		probably benign	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Mroh1	A	G	15: 76,320,249 (GRCm39)	T1008A	probably benign	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Mug2	C	A	6: 122,048,801 (GRCm39)	H856N	probably benign	Het
Naca	T	A	10: 127,879,590 (GRCm39)		probably benign	Het
Nagk	G	T	6: 83,776,336 (GRCm39)	V184F	probably damaging	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncor2	T	A	5: 125,102,489 (GRCm39)	H2089L	probably benign	Het
Nek6	A	G	2: 38,472,458 (GRCm39)	I261V	probably damaging	Het
Neurod2	G	A	11: 98,218,558 (GRCm39)	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,716,726 (GRCm39)	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,123,335 (GRCm39)	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,189,667 (GRCm39)	V340D	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10x1	A	T	1: 174,196,734 (GRCm39)	I84L	probably benign	Het
Or52l1	A	G	7: 104,830,079 (GRCm39)	I162T	possibly damaging	Het
Or52z15	T	C	7: 103,332,750 (GRCm39)	I265T	probably damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,683 (GRCm39)	W610R	possibly damaging	Het
Pias2	T	A	18: 77,185,139 (GRCm39)	C66*	probably null	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Prpf8	T	G	11: 75,395,570 (GRCm39)	V1899G	probably damaging	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
R3hdm2	T	C	10: 127,334,337 (GRCm39)	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,247,350 (GRCm39)	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 179,925,106 (GRCm39)	R33Q	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Rptn	A	T	3: 93,304,017 (GRCm39)	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,608,102 (GRCm39)	K1010*	probably null	Het
Slc16a10	G	A	10: 39,932,602 (GRCm39)	Q33*	probably null	Het
Slc31a1	C	T	4: 62,303,842 (GRCm39)		probably benign	Het
Slc34a1	A	T	13: 55,548,963 (GRCm39)	K138*	probably null	Het
Slc6a18	T	A	13: 73,818,162 (GRCm39)	E285V	probably benign	Het
Slco6c1	T	A	1: 97,000,707 (GRCm39)	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,279,768 (GRCm39)	S295T	probably damaging	Het
Snx4	A	T	16: 33,104,808 (GRCm39)	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,828,482 (GRCm39)	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tcp10b	A	G	17: 13,300,513 (GRCm39)	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,779,260 (GRCm39)	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,613,831 (GRCm39)	K823R	probably damaging	Het
Trim31	A	G	17: 37,212,692 (GRCm39)	E221G	probably benign	Het
Trim47	T	A	11: 115,998,605 (GRCm39)	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vldlr	T	C	19: 27,218,709 (GRCm39)	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,578,198 (GRCm39)	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,508,218 (GRCm39)	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,201,268 (GRCm39)	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,684,069 (GRCm39)	P13T	probably damaging	Het
Zfp825	A	G	13: 74,629,064 (GRCm39)	C151R	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
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'- TTCCTTCAGCCAAAGATCCC -3'
(R):5'- TTACCTCTCGGTCAGTATTGGG -3'

Sequencing Primer
(F):5'- ACTTCAGAGTGCCAGCCCTG -3'
(R):5'- CAGGTCACGCAGGCATC -3'

Posted On

2014-06-30