Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Cul5'

471693

Institutional Source

Beutler Lab

Gene Symbol

Cul5

Ensembl Gene

ENSMUSG00000032030

Gene Name

cullin 5

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53614582-53670014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53622793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 680 (R680G)

Ref Sequence

ENSEMBL: ENSMUSP00000133144 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034529
AA Change: R707G

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: R707G

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: R503G

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

SMART Domains

Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030
AA Change: R503G

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: ENSMUST00000141803

Predicted Effect

probably damaging
Transcript: ENSMUST00000166367
AA Change: R680G

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

SMART Domains

Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: R680G

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

0.8610

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Dhx58	C	A	11: 100,702,209	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fbxw15	A	T	9: 109,555,252	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	possibly damaging	Het

Other mutations in Cul5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Cul5	APN	9	53,635,007 (GRCm38)	missense	probably damaging	1.00
IGL02043:Cul5	APN	9	53,658,673 (GRCm38)	missense	probably benign	0.26
IGL02145:Cul5	APN	9	53,635,075 (GRCm38)	splice site	probably benign
IGL02261:Cul5	APN	9	53,635,037 (GRCm38)	missense	probably damaging	1.00
IGL02281:Cul5	APN	9	53,635,049 (GRCm38)	missense	possibly damaging	0.87
IGL02639:Cul5	APN	9	53,655,342 (GRCm38)	missense	possibly damaging	0.89
IGL02697:Cul5	APN	9	53,655,331 (GRCm38)	missense	probably benign
IGL02752:Cul5	APN	9	53,634,978 (GRCm38)	missense	probably damaging	0.98
IGL03017:Cul5	APN	9	53,644,485 (GRCm38)	critical splice donor site	probably null
IGL03031:Cul5	APN	9	53,642,675 (GRCm38)	splice site	probably benign
IGL03196:Cul5	APN	9	53,625,880 (GRCm38)	missense	probably damaging	0.99
R0142:Cul5	UTSW	9	53,635,050 (GRCm38)	missense	probably damaging	0.98
R0415:Cul5	UTSW	9	53,667,070 (GRCm38)	missense	probably benign	0.00
R1619:Cul5	UTSW	9	53,658,593 (GRCm38)	missense	probably benign	0.00
R1675:Cul5	UTSW	9	53,646,683 (GRCm38)	missense	probably benign	0.00
R2031:Cul5	UTSW	9	53,667,180 (GRCm38)	missense	probably benign
R2059:Cul5	UTSW	9	53,667,156 (GRCm38)	missense	probably damaging	0.98
R3401:Cul5	UTSW	9	53,621,212 (GRCm38)	missense	probably benign	0.02
R3427:Cul5	UTSW	9	53,617,890 (GRCm38)	missense	probably benign
R3701:Cul5	UTSW	9	53,629,216 (GRCm38)	missense	probably damaging	0.99
R3702:Cul5	UTSW	9	53,629,216 (GRCm38)	missense	probably damaging	0.99
R3815:Cul5	UTSW	9	53,622,943 (GRCm38)	missense	probably benign	0.31
R3848:Cul5	UTSW	9	53,617,986 (GRCm38)	missense	probably benign	0.34
R3849:Cul5	UTSW	9	53,617,986 (GRCm38)	missense	probably benign	0.34
R3850:Cul5	UTSW	9	53,617,986 (GRCm38)	missense	probably benign	0.34
R4592:Cul5	UTSW	9	53,633,727 (GRCm38)	splice site	probably benign
R4690:Cul5	UTSW	9	53,622,871 (GRCm38)	missense	probably damaging	1.00
R5154:Cul5	UTSW	9	53,625,867 (GRCm38)	missense	probably damaging	1.00
R5173:Cul5	UTSW	9	53,642,734 (GRCm38)	missense	probably benign
R5645:Cul5	UTSW	9	53,622,943 (GRCm38)	missense	probably benign	0.17
R5868:Cul5	UTSW	9	53,658,673 (GRCm38)	missense	probably benign	0.26
R6251:Cul5	UTSW	9	53,646,794 (GRCm38)	missense	probably benign	0.40
R6284:Cul5	UTSW	9	53,623,735 (GRCm38)	missense	probably damaging	1.00
R6415:Cul5	UTSW	9	53,646,683 (GRCm38)	missense	probably benign	0.00
R7178:Cul5	UTSW	9	53,644,526 (GRCm38)	missense	probably benign	0.01
R7511:Cul5	UTSW	9	53,625,969 (GRCm38)	missense	probably damaging	1.00
R7923:Cul5	UTSW	9	53,624,166 (GRCm38)	missense	probably benign	0.00
R7940:Cul5	UTSW	9	53,623,769 (GRCm38)	missense	probably benign	0.21
R8481:Cul5	UTSW	9	53,646,823 (GRCm38)	missense	probably benign	0.00
R9483:Cul5	UTSW	9	53,621,174 (GRCm38)	missense	probably benign	0.10
X0018:Cul5	UTSW	9	53,622,929 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTTCCACTTTGGCAATTAGC -3'
(R):5'- AGGTATTGGAGTAAGCTTCATGAAG -3'

Sequencing Primer
(F):5'- TGTTGAAAGTCATATTTCGAGTGTC -3'
(R):5'- TTGGAGTAAGCTTCATGAAGAAATG -3'

Posted On

2017-03-31