Mutagenetix > Incidental Mutation

Incidental Mutation 'R1542:Cul7'

171873

Institutional Source

Beutler Lab

Gene Symbol

Cul7

Ensembl Gene

ENSMUSG00000038545

Gene Name

cullin 7

Synonyms

p185, 2510004L20Rik, C230011P08Rik, p193

MMRRC Submission

039581-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1542 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

46650337-46664364 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46663190 bp (GRCm38)

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: 99.1%
3x: 98.3%
10x: 96.3%
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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,414,406 (GRCm38)	M208T	possibly damaging	Het
Acsbg2	T	A	17: 56,849,791 (GRCm38)	I416F	probably damaging	Het
Adam6b	G	A	12: 113,490,939 (GRCm38)	D459N	possibly damaging	Het
Adprh	A	T	16: 38,445,924 (GRCm38)	D285E	probably damaging	Het
Aggf1	A	T	13: 95,370,942 (GRCm38)	C112S	probably benign	Het
Als2cl	T	C	9: 110,894,034 (GRCm38)	V602A	probably benign	Het
Angptl2	G	T	2: 33,228,885 (GRCm38)	V224F	probably benign	Het
Ap3b2	A	T	7: 81,478,077 (GRCm38)		probably null	Het
Aqp2	A	C	15: 99,583,842 (GRCm38)	I206L	probably benign	Het
Asap2	A	G	12: 21,265,997 (GRCm38)	D930G	probably damaging	Het
Cacna1e	T	A	1: 154,477,779 (GRCm38)	M682L	probably benign	Het
Ccdc18	A	G	5: 108,212,188 (GRCm38)	N1146S	probably benign	Het
Ccr4	G	A	9: 114,492,005 (GRCm38)	H331Y	probably benign	Het
Cd33	A	G	7: 43,532,106 (GRCm38)	L210P	probably damaging	Het
Cep85l	T	C	10: 53,301,584 (GRCm38)	E351G	probably damaging	Het
Cntn6	C	A	6: 104,848,100 (GRCm38)	T867K	probably damaging	Het
Cpeb2	C	T	5: 43,285,875 (GRCm38)	R970C	probably damaging	Het
Dscaml1	T	A	9: 45,749,440 (GRCm38)	I1693K	possibly damaging	Het
Ebf4	A	T	2: 130,365,498 (GRCm38)	M621L	probably benign	Het
Elp4	G	T	2: 105,794,609 (GRCm38)	T313N	probably benign	Het
Epas1	T	A	17: 86,824,490 (GRCm38)	I373N	possibly damaging	Het
Etnk1	A	T	6: 143,180,641 (GRCm38)	M71L	probably benign	Het
Fry	C	T	5: 150,404,966 (GRCm38)	T1257I	probably benign	Het
Gm21834	A	G	17: 57,741,951 (GRCm38)	F90S	possibly damaging	Het
Gm8674	T	A	13: 49,900,003 (GRCm38)		noncoding transcript	Het
Gna11	T	C	10: 81,533,328 (GRCm38)	T134A	probably benign	Het
Golga5	C	T	12: 102,474,720 (GRCm38)	S238F	probably damaging	Het
Grin2a	T	A	16: 9,579,203 (GRCm38)	N1007Y	probably damaging	Het
Hist1h3e	A	G	13: 23,562,164 (GRCm38)	F68L	probably damaging	Het
Ifnar2	G	A	16: 91,399,265 (GRCm38)	V253M	possibly damaging	Het
Insl5	A	T	4: 103,018,185 (GRCm38)	S123T	probably damaging	Het
Itgb2	T	C	10: 77,559,486 (GRCm38)	S474P	probably benign	Het
Kcnb2	A	G	1: 15,710,788 (GRCm38)	H628R	probably benign	Het
L3mbtl2	G	A	15: 81,682,151 (GRCm38)	D392N	probably null	Het
Lrp1b	G	T	2: 41,123,712 (GRCm38)	T1813K	probably damaging	Het
Map3k4	A	G	17: 12,235,906 (GRCm38)	L1399P	probably damaging	Het
Mbtps1	A	C	8: 119,546,247 (GRCm38)		probably null	Het
Mettl25	A	T	10: 105,826,120 (GRCm38)	S330T	probably benign	Het
Mical2	T	C	7: 112,309,468 (GRCm38)	L211P	probably damaging	Het
Mmrn1	T	A	6: 60,945,118 (GRCm38)	S186R	probably damaging	Het
Mob3b	C	A	4: 35,084,046 (GRCm38)	V48L	possibly damaging	Het
Mpp6	A	G	6: 50,198,326 (GRCm38)	Y539C	probably damaging	Het
Napsa	A	T	7: 44,581,689 (GRCm38)	H114L	probably damaging	Het
Nsmce4a	A	T	7: 130,545,893 (GRCm38)		probably null	Het
Nup62	A	G	7: 44,829,929 (GRCm38)	K456R	possibly damaging	Het
Nwd2	T	A	5: 63,806,975 (GRCm38)	W1301R	probably damaging	Het
Olfr1141	A	G	2: 87,753,318 (GRCm38)	V225A	probably damaging	Het
Olfr118	A	T	17: 37,672,251 (GRCm38)	E76V	probably damaging	Het
Olfr15	T	A	16: 3,839,832 (GRCm38)	N286K	probably damaging	Het
Olfr364-ps1	T	A	2: 37,146,966 (GRCm38)	S251R	probably damaging	Het
Oprm1	G	T	10: 6,788,960 (GRCm38)	W29L	probably damaging	Het
Pcnt	T	G	10: 76,389,387 (GRCm38)	N1761T	probably benign	Het
Pcnt	C	T	10: 76,401,386 (GRCm38)	M1355I	probably benign	Het
Pde11a	A	T	2: 76,046,855 (GRCm38)	S757T	probably benign	Het
Pde6a	T	A	18: 61,257,045 (GRCm38)	I490N	possibly damaging	Het
Pgap1	A	G	1: 54,492,090 (GRCm38)	V742A	probably benign	Het
Pik3c2b	T	C	1: 133,090,034 (GRCm38)	L915P	probably damaging	Het
Pkd1l1	A	G	11: 8,874,179 (GRCm38)	C1129R	possibly damaging	Het
Pkhd1l1	A	T	15: 44,528,191 (GRCm38)	H1551L	probably benign	Het
Plxnb2	C	T	15: 89,165,921 (GRCm38)	C491Y	probably damaging	Het
Ppt1	C	A	4: 122,857,609 (GRCm38)	H300N	probably benign	Het
Prpf3	T	A	3: 95,836,470 (GRCm38)	Q457L	probably benign	Het
Ranbp17	C	T	11: 33,264,672 (GRCm38)	V914I	probably benign	Het
Rasal2	T	C	1: 157,175,851 (GRCm38)	I413V	possibly damaging	Het
Rb1cc1	G	A	1: 6,244,249 (GRCm38)	V382I	possibly damaging	Het
Rere	T	A	4: 150,615,942 (GRCm38)	F1125I	probably damaging	Het
Rprd2	A	T	3: 95,765,676 (GRCm38)	V805E	possibly damaging	Het
Sept10	T	G	10: 59,166,606 (GRCm38)	E162A	probably damaging	Het
Sept12	G	T	16: 4,992,295 (GRCm38)	D125E	probably benign	Het
Serpina6	A	G	12: 103,654,473 (GRCm38)	Y6H	probably benign	Het
Serpinb3c	T	C	1: 107,272,787 (GRCm38)	M209V	probably damaging	Het
Slc2a7	A	T	4: 150,168,471 (GRCm38)	T523S	probably damaging	Het
Smdt1	T	C	15: 82,346,175 (GRCm38)	V31A	possibly damaging	Het
Snrnp48	T	C	13: 38,220,704 (GRCm38)	I245T	probably damaging	Het
Spink2	G	A	5: 77,206,965 (GRCm38)	T33I	probably damaging	Het
Sptan1	A	G	2: 30,027,127 (GRCm38)	T2204A	probably damaging	Het
Synj2	A	G	17: 6,025,017 (GRCm38)	D306G	probably benign	Het
Tas2r109	A	G	6: 132,980,910 (GRCm38)	I19T	possibly damaging	Het
Tbk1	C	T	10: 121,559,935 (GRCm38)	V418M	probably benign	Het
Tcerg1	A	G	18: 42,553,430 (GRCm38)	E684G	probably damaging	Het
Tenm2	T	C	11: 36,300,220 (GRCm38)	N308S	probably damaging	Het
Tfb2m	A	T	1: 179,537,861 (GRCm38)		probably null	Het
Tmc1	T	A	19: 20,816,122 (GRCm38)	L558F	probably damaging	Het
Tmprss5	T	A	9: 49,109,134 (GRCm38)	I80N	possibly damaging	Het
Trappc2l	G	A	8: 122,615,407 (GRCm38)	V131M	probably damaging	Het
Trpm7	A	C	2: 126,822,599 (GRCm38)	Y953*	probably null	Het
Ttn	T	C	2: 76,753,515 (GRCm38)	R22383G	probably damaging	Het
Ugt1a6b	G	A	1: 88,107,261 (GRCm38)	G107D	probably benign	Het
Vmn1r197	A	T	13: 22,328,350 (GRCm38)	Y147F	probably benign	Het
Zfp507	A	T	7: 35,794,801 (GRCm38)	N272K	possibly damaging	Het
Zfp526	G	A	7: 25,226,262 (GRCm38)	E649K	probably benign	Het
Zswim6	G	A	13: 107,727,234 (GRCm38)		noncoding transcript	Het

Other mutations in Cul7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Cul7	APN	17	46,652,508 (GRCm38)	missense	probably damaging	1.00
IGL01288:Cul7	APN	17	46,657,807 (GRCm38)	splice site	probably benign
IGL01669:Cul7	APN	17	46,658,715 (GRCm38)	missense	possibly damaging	0.94
P0019:Cul7	UTSW	17	46,660,247 (GRCm38)	splice site	probably benign
PIT4453001:Cul7	UTSW	17	46,651,820 (GRCm38)	missense	probably damaging	0.99
R0083:Cul7	UTSW	17	46,655,556 (GRCm38)	missense	probably benign	0.00
R0121:Cul7	UTSW	17	46,663,373 (GRCm38)	missense	probably damaging	1.00
R0157:Cul7	UTSW	17	46,653,835 (GRCm38)	missense	possibly damaging	0.93
R0266:Cul7	UTSW	17	46,654,595 (GRCm38)	missense	probably benign	0.00
R0358:Cul7	UTSW	17	46,663,744 (GRCm38)	critical splice donor site	probably null
R0544:Cul7	UTSW	17	46,663,544 (GRCm38)	missense	possibly damaging	0.94
R0565:Cul7	UTSW	17	46,652,003 (GRCm38)	missense	probably damaging	0.98
R0677:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R0696:Cul7	UTSW	17	46,659,608 (GRCm38)	missense	probably damaging	1.00
R0702:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R0735:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R0893:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R0900:Cul7	UTSW	17	46,658,337 (GRCm38)	missense	probably benign	0.36
R0975:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R0976:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R1014:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R1016:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R1104:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R1162:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R1378:Cul7	UTSW	17	46,662,126 (GRCm38)	missense	probably damaging	0.99
R1479:Cul7	UTSW	17	46,651,747 (GRCm38)	missense	probably damaging	1.00
R1498:Cul7	UTSW	17	46,655,710 (GRCm38)	missense	probably benign	0.01
R1521:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R1545:Cul7	UTSW	17	46,651,553 (GRCm38)	missense	probably damaging	1.00
R1598:Cul7	UTSW	17	46,663,091 (GRCm38)	missense	probably benign	0.10
R1600:Cul7	UTSW	17	46,651,822 (GRCm38)	nonsense	probably null
R1618:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R1752:Cul7	UTSW	17	46,653,167 (GRCm38)	missense	probably benign	0.10
R1881:Cul7	UTSW	17	46,651,962 (GRCm38)	missense	probably damaging	1.00
R1901:Cul7	UTSW	17	46,655,740 (GRCm38)	missense	probably damaging	1.00
R1902:Cul7	UTSW	17	46,655,740 (GRCm38)	missense	probably damaging	1.00
R1913:Cul7	UTSW	17	46,663,190 (GRCm38)	missense	probably damaging	0.99
R2213:Cul7	UTSW	17	46,651,472 (GRCm38)	missense	probably damaging	0.99
R2370:Cul7	UTSW	17	46,661,641 (GRCm38)	missense	probably damaging	1.00
R2929:Cul7	UTSW	17	46,651,600 (GRCm38)	missense	probably benign	0.00
R2930:Cul7	UTSW	17	46,651,600 (GRCm38)	missense	probably benign	0.00
R2990:Cul7	UTSW	17	46,651,600 (GRCm38)	missense	probably benign	0.00
R2992:Cul7	UTSW	17	46,651,600 (GRCm38)	missense	probably benign	0.00
R4201:Cul7	UTSW	17	46,661,312 (GRCm38)	missense	probably damaging	1.00
R4792:Cul7	UTSW	17	46,657,050 (GRCm38)	nonsense	probably null
R4971:Cul7	UTSW	17	46,659,119 (GRCm38)	missense	probably benign	0.00
R5014:Cul7	UTSW	17	46,655,942 (GRCm38)	makesense	probably null
R5384:Cul7	UTSW	17	46,654,477 (GRCm38)	missense	probably benign	0.44
R5957:Cul7	UTSW	17	46,657,757 (GRCm38)	missense	probably damaging	1.00
R6128:Cul7	UTSW	17	46,651,662 (GRCm38)	missense	probably damaging	1.00
R6294:Cul7	UTSW	17	46,663,148 (GRCm38)	missense	probably benign
R6812:Cul7	UTSW	17	46,661,409 (GRCm38)	missense	probably benign	0.00
R7073:Cul7	UTSW	17	46,658,731 (GRCm38)	missense	probably damaging	1.00
R7112:Cul7	UTSW	17	46,651,698 (GRCm38)	missense	probably damaging	1.00
R7246:Cul7	UTSW	17	46,662,067 (GRCm38)	missense	probably benign	0.04
R7361:Cul7	UTSW	17	46,657,007 (GRCm38)	missense	probably damaging	1.00
R7567:Cul7	UTSW	17	46,654,595 (GRCm38)	missense	probably benign	0.00
R7682:Cul7	UTSW	17	46,655,595 (GRCm38)	missense	probably benign
R7689:Cul7	UTSW	17	46,652,821 (GRCm38)	nonsense	probably null
R7797:Cul7	UTSW	17	46,658,642 (GRCm38)	missense	possibly damaging	0.65
R7897:Cul7	UTSW	17	46,658,005 (GRCm38)	missense	probably benign
R8783:Cul7	UTSW	17	46,655,649 (GRCm38)	missense	probably benign
R9047:Cul7	UTSW	17	46,654,522 (GRCm38)	missense	probably benign	0.01
R9167:Cul7	UTSW	17	46,655,697 (GRCm38)	missense	probably benign	0.14
R9614:Cul7	UTSW	17	46,664,286 (GRCm38)	missense	probably damaging	1.00
Z1177:Cul7	UTSW	17	46,659,569 (GRCm38)	missense	probably damaging	0.99
Z1177:Cul7	UTSW	17	46,658,738 (GRCm38)	missense	probably damaging	0.99
Z1177:Cul7	UTSW	17	46,652,805 (GRCm38)	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

2014-04-13