Mutagenetix > Incidental Mutation

Incidental Mutation 'R7511:Cul5'

582101

Institutional Source

Beutler Lab

Gene Symbol

Cul5

Ensembl Gene

ENSMUSG00000032030

Gene Name

cullin 5

Synonyms

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

MMRRC Submission

045584-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53525881-53578807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53537269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 521 (N521I)

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: N521I

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

SMART Domains

Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: N521I

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 damaging
Transcript: ENSMUST00000120122
AA Change: N317I

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

SMART Domains

Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030
AA Change: N317I

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

probably damaging
Transcript: ENSMUST00000166367
AA Change: N494I

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

SMART Domains

Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: N494I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,189,954 (GRCm39)	K327E	probably damaging	Het
Adamts14	G	A	10: 61,054,307 (GRCm39)	A572V	possibly damaging	Het
Add2	A	G	6: 86,075,597 (GRCm39)	N249D	probably benign	Het
Adgrb2	A	T	4: 129,915,904 (GRCm39)	M1503L	probably benign	Het
Alms1	A	G	6: 85,586,407 (GRCm39)	K421E	unknown	Het
B3galt5	A	G	16: 96,116,916 (GRCm39)	K183R	possibly damaging	Het
Braf	T	C	6: 39,665,187 (GRCm39)	I94M	probably damaging	Het
Cacna1a	A	G	8: 85,294,311 (GRCm39)	E1158G	possibly damaging	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
Ccdc38	C	A	10: 93,398,662 (GRCm39)	L147I	possibly damaging	Het
Ccdc83	T	C	7: 89,886,130 (GRCm39)	N210D	possibly damaging	Het
Cdh20	T	C	1: 109,925,583 (GRCm39)		probably benign	Het
Coro1b	T	A	19: 4,202,525 (GRCm39)	Y338N	probably damaging	Het
Crlf3	A	C	11: 79,954,812 (GRCm39)		probably null	Het
Crnn	A	T	3: 93,056,723 (GRCm39)	K503M	probably damaging	Het
Cyp2c50	T	A	19: 40,080,634 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,337,042 (GRCm39)	H23R	possibly damaging	Het
Dock7	A	T	4: 98,949,519 (GRCm39)	L441H		Het
Dock7	C	A	4: 98,967,992 (GRCm39)	E162*	probably null	Het
Dpp9	A	T	17: 56,512,611 (GRCm39)	M174K	possibly damaging	Het
Dtd1	A	G	2: 144,459,147 (GRCm39)	D57G	probably benign	Het
F3	A	G	3: 121,525,206 (GRCm39)	E149G	probably damaging	Het
Glp2r	C	T	11: 67,648,417 (GRCm39)	R95K	probably damaging	Het
Gpr107	T	A	2: 31,068,358 (GRCm39)	F273L	probably benign	Het
Gria1	A	T	11: 57,174,451 (GRCm39)	I647F	probably damaging	Het
Heatr5a	A	C	12: 51,926,217 (GRCm39)	I1878S	possibly damaging	Het
Hsf2	G	T	10: 57,380,653 (GRCm39)	C230F	probably benign	Het
Igfbp2	T	G	1: 72,891,164 (GRCm39)	M254R	probably damaging	Het
Kifc2	C	A	15: 76,545,537 (GRCm39)	Q95K	possibly damaging	Het
Lnx1	T	G	5: 74,780,972 (GRCm39)	N183T	probably benign	Het
Ltn1	G	T	16: 87,205,716 (GRCm39)	T983K	possibly damaging	Het
Macf1	A	T	4: 123,367,093 (GRCm39)	V2556D	possibly damaging	Het
Map4k3	A	G	17: 80,905,077 (GRCm39)	V738A	possibly damaging	Het
Mtmr12	T	G	15: 12,265,681 (GRCm39)	Y466D	possibly damaging	Het
Musk	A	G	4: 58,333,672 (GRCm39)	I256V	probably benign	Het
Ociad1	T	C	5: 73,452,338 (GRCm39)	F43S	probably damaging	Het
Or10g9b	A	T	9: 39,918,229 (GRCm39)	S5R	possibly damaging	Het
Or4k5	A	G	14: 50,385,713 (GRCm39)	L206P	probably damaging	Het
Pah	G	A	10: 87,390,249 (GRCm39)	A132T	probably damaging	Het
Pak5	G	A	2: 135,925,244 (GRCm39)	S686F	possibly damaging	Het
Pi4kb	T	C	3: 94,896,623 (GRCm39)	S307P	probably benign	Het
Plxna1	T	C	6: 89,318,889 (GRCm39)	T645A	possibly damaging	Het
Pold1	C	T	7: 44,191,614 (GRCm39)	R124K	possibly damaging	Het
Pramel27	T	A	4: 143,573,116 (GRCm39)	I3N	possibly damaging	Het
Prdm10	T	C	9: 31,289,777 (GRCm39)	Y1153H	probably damaging	Het
Ptk2b	T	C	14: 66,391,693 (GRCm39)	N947S	possibly damaging	Het
Rad54b	A	G	4: 11,578,956 (GRCm39)		probably null	Het
S1pr4	A	G	10: 81,335,623 (GRCm39)		probably benign	Het
Sec23b	A	G	2: 144,432,269 (GRCm39)	K760E	probably benign	Het
Sergef	T	A	7: 46,264,170 (GRCm39)	N239I	probably damaging	Het
Serpinb9	C	A	13: 33,192,054 (GRCm39)	N78K	probably benign	Het
Sntb1	G	T	15: 55,511,347 (GRCm39)	F412L	possibly damaging	Het
Stradb	T	A	1: 59,032,108 (GRCm39)	F294L	probably damaging	Het
Ttll11	G	A	2: 35,793,046 (GRCm39)	R266C	probably damaging	Het
Ttn	A	T	2: 76,624,882 (GRCm39)	M15232K	possibly damaging	Het
Tubgcp2	T	C	7: 139,584,793 (GRCm39)	I547M	probably benign	Het
Vgf	C	A	5: 137,060,245 (GRCm39)	P136T	unknown	Het
Vmn1r36	T	A	6: 66,693,914 (GRCm39)		probably benign	Het
Vmn2r102	T	C	17: 19,901,405 (GRCm39)	S511P	probably damaging	Het
Wdr27	C	T	17: 15,103,965 (GRCm39)	V714I	probably benign	Het
Zbed6	T	A	1: 133,586,981 (GRCm39)	I119L	probably benign	Het
Zfp229	A	G	17: 21,964,045 (GRCm39)	S92G	probably benign	Het
Zfp710	C	T	7: 79,732,250 (GRCm39)	Q476*	probably null	Het
Zfp808	A	G	13: 62,320,637 (GRCm39)	N622S	probably benign	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
R2059:Cul5	UTSW	9	53,578,456 (GRCm39)	missense	probably damaging	0.98
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
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'- AGACACTTGCACCTCTCTAGC -3'
(R):5'- TTGCTGTCACAAAGGGAGGG -3'

Sequencing Primer
(F):5'- TGCACTAACATGTAGACAAAACAGTG -3'
(R):5'- TGTAGCTAGACATAGTGCTGCACC -3'

Posted On

2019-10-17