Mutagenetix > Incidental Mutation

Incidental Mutation 'R2059:Cul5'

228478

Institutional Source

Beutler Lab

Gene Symbol

Cul5

Ensembl Gene

ENSMUSG00000032030

Gene Name

cullin 5

Synonyms

VACM-1, C030032G03Rik, 4921514I20Rik, C330021I08Rik, 8430423K24Rik

MMRRC Submission

040064-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2059 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

53525881-53578807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53578456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 44 (L44Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034529] [ENSMUST00000120122] [ENSMUST00000166367]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034529
AA Change: L44Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: L44Q

Domain	Start	End	E-Value	Type
PDB:2WZK\|A	76	461	N/A	PDB
SCOP:d1ldja2	91	459	1e-109	SMART
CULLIN	510	661	1.12e-80	SMART
Cullin_Nedd8	782	849	5.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120122

SMART Domains

Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030

Domain	Start	End	E-Value	Type
PDB:4JGH\|D	1	258	N/A	PDB
SCOP:d1ldja2	5	255	2e-75	SMART
CULLIN	306	457	1.12e-80	SMART
Cullin_Nedd8	578	645	5.12e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123499

Predicted Effect

probably benign
Transcript: ENSMUST00000133872

SMART Domains

Protein: ENSMUSP00000121734
Gene: ENSMUSG00000032030

Domain	Start	End	E-Value	Type
PDB:2WZK\|A	5	49	4e-25	PDB
SCOP:d1ldja2	20	49	1e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146938

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166367
AA Change: L44Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: L44Q

Domain	Start	End	E-Value	Type
PDB:2WZK\|A	76	434	N/A	PDB
SCOP:d1ldja2	91	432	9e-99	SMART
CULLIN	483	634	1.12e-80	SMART
Cullin_Nedd8	755	822	5.12e-17	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (99/100)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality. Mice heterozygous for a null allele exhibit decreased susceptibility to LPS-induced lung injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	G	A	5: 30,404,489 (GRCm39)	H316Y	possibly damaging	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ak5	T	A	3: 152,366,274 (GRCm39)	L42F	probably damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,714,506 (GRCm39)	V118A	probably benign	Het
Ano1	G	C	7: 144,165,127 (GRCm39)	L641V	probably damaging	Het
Arfgef1	C	T	1: 10,258,977 (GRCm39)		probably null	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atf7ip	T	G	6: 136,586,346 (GRCm39)		probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Baz2a	T	A	10: 127,949,447 (GRCm39)	S347R	probably damaging	Het
C2cd3	T	C	7: 100,104,700 (GRCm39)		probably benign	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Cdh12	T	A	15: 21,583,826 (GRCm39)	N555K	probably benign	Het
Cenpj	G	A	14: 56,801,412 (GRCm39)	P187L	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,778,841 (GRCm39)		probably benign	Het
Cgref1	T	G	5: 31,090,989 (GRCm39)	D275A	possibly damaging	Het
Clgn	A	C	8: 84,126,607 (GRCm39)	N103H	probably benign	Het
Corin	A	G	5: 72,473,394 (GRCm39)	V905A	possibly damaging	Het
Csta1	A	C	16: 35,942,692 (GRCm39)	D72E	probably benign	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dync1i2	G	A	2: 71,080,197 (GRCm39)		probably null	Het
Enoph1	A	G	5: 100,207,078 (GRCm39)	D55G	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fhip2b	A	G	14: 70,822,489 (GRCm39)	V744A	possibly damaging	Het
Foxi2	G	T	7: 135,012,406 (GRCm39)	G98V	probably damaging	Het
Galr2	T	C	11: 116,173,765 (GRCm39)	S132P	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gm15446	C	T	5: 110,090,362 (GRCm39)	H205Y	probably damaging	Het
Gm21775	T	A	Y: 10,553,910 (GRCm39)	I153N	probably benign	Het
Grip1	A	G	10: 119,874,603 (GRCm39)	K789R	possibly damaging	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Herc2	T	A	7: 55,813,645 (GRCm39)	H2625Q	probably damaging	Het
Hoxc9	A	G	15: 102,892,555 (GRCm39)	D256G	probably benign	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Irf2	A	T	8: 47,260,380 (GRCm39)	N104I	probably damaging	Het
Kat6a	A	G	8: 23,429,321 (GRCm39)	N1559D	possibly damaging	Het
Kcnq4	G	T	4: 120,555,199 (GRCm39)	F661L	probably benign	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Khdrbs1	T	C	4: 129,619,514 (GRCm39)	E209G	probably damaging	Het
Lama3	A	T	18: 12,661,390 (GRCm39)	R2116S	probably damaging	Het
Mir124-2hg	C	A	3: 17,839,877 (GRCm39)	E65*	probably null	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msl3l2	T	A	10: 55,992,040 (GRCm39)	L255Q	probably damaging	Het
Mx1	T	A	16: 97,255,379 (GRCm39)	K225*	probably null	Het
Nf1	T	C	11: 79,447,549 (GRCm39)	V435A	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Nop2	T	A	6: 125,116,823 (GRCm39)	M359K	probably null	Het
Nox1	T	C	X: 132,995,993 (GRCm39)		probably benign	Het
Ogdhl	G	A	14: 32,054,841 (GRCm39)	R263K	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or2y16	T	A	11: 49,335,278 (GRCm39)	V200E	probably damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prl3a1	A	G	13: 27,454,127 (GRCm39)	D35G	probably benign	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptprk	T	A	10: 28,442,599 (GRCm39)	I893N	probably damaging	Het
Ptprz1	T	C	6: 22,986,322 (GRCm39)		probably benign	Het
Rab3c	A	G	13: 110,397,050 (GRCm39)	V72A	probably damaging	Het
Rbms2	A	G	10: 127,973,387 (GRCm39)	S251P	probably benign	Het
Rfwd3	A	G	8: 112,024,127 (GRCm39)	V65A	probably benign	Het
Rps6kl1	T	A	12: 85,186,397 (GRCm39)	Y211F	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Scg3	T	C	9: 75,572,998 (GRCm39)	D311G	probably damaging	Het
Sdk2	C	A	11: 113,745,158 (GRCm39)	M712I	probably damaging	Het
Serinc2	T	G	4: 130,154,578 (GRCm39)	Y158S	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Shroom3	A	T	5: 92,831,643 (GRCm39)	T40S	probably damaging	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc7a3	A	G	X: 100,124,373 (GRCm39)	V464A	probably benign	Het
Snd1	T	C	6: 28,745,206 (GRCm39)	F517S	probably damaging	Het
Spata13	A	C	14: 60,997,040 (GRCm39)	I1165L	possibly damaging	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Stat5b	A	T	11: 100,678,158 (GRCm39)	S652T	probably benign	Het
Stom	A	G	2: 35,206,037 (GRCm39)	S231P	probably damaging	Het
Sult1b1	A	G	5: 87,682,892 (GRCm39)	Y18H	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmem87a	A	T	2: 120,199,773 (GRCm39)	I457N	probably damaging	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,113,746 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Ust	A	G	10: 8,083,330 (GRCm39)	Y349H	probably damaging	Het
V1rd19	A	T	7: 23,703,259 (GRCm39)	M242L	probably benign	Het
Vmn1r33	T	A	6: 66,589,186 (GRCm39)	M123L	probably benign	Het
Vps13c	A	T	9: 67,768,115 (GRCm39)	K111N	probably damaging	Het
Vwa3a	A	G	7: 120,358,172 (GRCm39)	D81G	probably damaging	Het
Zfp318	G	A	17: 46,707,950 (GRCm39)	R336Q	probably damaging	Het
Zfp609	A	G	9: 65,611,716 (GRCm39)	S416P	possibly damaging	Het

Other mutations in Cul5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Cul5	APN	9	53,546,307 (GRCm39)	missense	probably damaging	1.00
IGL02043:Cul5	APN	9	53,569,973 (GRCm39)	missense	probably benign	0.26
IGL02145:Cul5	APN	9	53,546,375 (GRCm39)	splice site	probably benign
IGL02261:Cul5	APN	9	53,546,337 (GRCm39)	missense	probably damaging	1.00
IGL02281:Cul5	APN	9	53,546,349 (GRCm39)	missense	possibly damaging	0.87
IGL02639:Cul5	APN	9	53,566,642 (GRCm39)	missense	possibly damaging	0.89
IGL02697:Cul5	APN	9	53,566,631 (GRCm39)	missense	probably benign
IGL02752:Cul5	APN	9	53,546,278 (GRCm39)	missense	probably damaging	0.98
IGL03017:Cul5	APN	9	53,555,785 (GRCm39)	critical splice donor site	probably null
IGL03031:Cul5	APN	9	53,553,975 (GRCm39)	splice site	probably benign
IGL03196:Cul5	APN	9	53,537,180 (GRCm39)	missense	probably damaging	0.99
R0142:Cul5	UTSW	9	53,546,350 (GRCm39)	missense	probably damaging	0.98
R0415:Cul5	UTSW	9	53,578,370 (GRCm39)	missense	probably benign	0.00
R1619:Cul5	UTSW	9	53,569,893 (GRCm39)	missense	probably benign	0.00
R1675:Cul5	UTSW	9	53,557,983 (GRCm39)	missense	probably benign	0.00
R2031:Cul5	UTSW	9	53,578,480 (GRCm39)	missense	probably benign
R3401:Cul5	UTSW	9	53,532,512 (GRCm39)	missense	probably benign	0.02
R3427:Cul5	UTSW	9	53,529,190 (GRCm39)	missense	probably benign
R3701:Cul5	UTSW	9	53,540,516 (GRCm39)	missense	probably damaging	0.99
R3702:Cul5	UTSW	9	53,540,516 (GRCm39)	missense	probably damaging	0.99
R3815:Cul5	UTSW	9	53,534,243 (GRCm39)	missense	probably benign	0.31
R3848:Cul5	UTSW	9	53,529,286 (GRCm39)	missense	probably benign	0.34
R3849:Cul5	UTSW	9	53,529,286 (GRCm39)	missense	probably benign	0.34
R3850:Cul5	UTSW	9	53,529,286 (GRCm39)	missense	probably benign	0.34
R4592:Cul5	UTSW	9	53,545,027 (GRCm39)	splice site	probably benign
R4690:Cul5	UTSW	9	53,534,171 (GRCm39)	missense	probably damaging	1.00
R5154:Cul5	UTSW	9	53,537,167 (GRCm39)	missense	probably damaging	1.00
R5173:Cul5	UTSW	9	53,554,034 (GRCm39)	missense	probably benign
R5645:Cul5	UTSW	9	53,534,243 (GRCm39)	missense	probably benign	0.17
R5868:Cul5	UTSW	9	53,569,973 (GRCm39)	missense	probably benign	0.26
R5975:Cul5	UTSW	9	53,534,093 (GRCm39)	missense	probably damaging	1.00
R6251:Cul5	UTSW	9	53,558,094 (GRCm39)	missense	probably benign	0.40
R6284:Cul5	UTSW	9	53,535,035 (GRCm39)	missense	probably damaging	1.00
R6415:Cul5	UTSW	9	53,557,983 (GRCm39)	missense	probably benign	0.00
R7178:Cul5	UTSW	9	53,555,826 (GRCm39)	missense	probably benign	0.01
R7511:Cul5	UTSW	9	53,537,269 (GRCm39)	missense	probably damaging	1.00
R7923:Cul5	UTSW	9	53,535,466 (GRCm39)	missense	probably benign	0.00
R7940:Cul5	UTSW	9	53,535,069 (GRCm39)	missense	probably benign	0.21
R8481:Cul5	UTSW	9	53,558,123 (GRCm39)	missense	probably benign	0.00
R9483:Cul5	UTSW	9	53,532,474 (GRCm39)	missense	probably benign	0.10
X0018:Cul5	UTSW	9	53,534,229 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAATGATGGGTTGGTGCG -3'
(R):5'- AAGTGGCTACTACCTCTTCCCG -3'

Sequencing Primer
(F):5'- TGGTCCCTTGAAAGCATCG -3'
(R):5'- TCTTCCCGGTCTGGTCGG -3'

Posted On

2014-09-17