Mutagenetix > Incidental Mutations

Incidental Mutation 'R5190:Cand2'

398044

Institutional Source

Beutler Lab

Gene Symbol

Cand2

Ensembl Gene

ENSMUSG00000030319

Gene Name

cullin-associated and neddylation-dissociated 2 (putative)

Synonyms

2210404G23Rik, Tp120b

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5190 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

115774538-115805557 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115789513 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 360 (A360S)

Ref Sequence

ENSEMBL: ENSMUSP00000075377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075995]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075995
AA Change: A360S

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

SMART Domains

Protein: ENSMUSP00000075377
Gene: ENSMUSG00000030319
AA Change: A360S

Domain	Start	End	E-Value	Type
low complexity region	325	347	N/A	INTRINSIC
low complexity region	536	548	N/A	INTRINSIC
low complexity region	553	562	N/A	INTRINSIC
low complexity region	665	686	N/A	INTRINSIC
low complexity region	736	748	N/A	INTRINSIC
Pfam:HEAT	861	890	4.4e-5	PFAM
Pfam:TIP120	1044	1209	6e-64	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Abca7	T	C	10: 79,999,593		probably null	Het
Abca8a	C	T	11: 110,089,909		probably null	Het
Ablim3	A	G	18: 61,819,911	Y361H	probably benign	Het
Acan	C	T	7: 79,098,541	T1020I	probably benign	Het
Baat	A	G	4: 49,499,652	L218P	probably damaging	Het
Bcl11b	C	A	12: 107,989,716	C58F	probably damaging	Het
Cdh2	A	G	18: 16,650,315	V62A	possibly damaging	Het
Cep44	C	T	8: 56,532,796	V354I	probably benign	Het
Col3a1	G	A	1: 45,329,084	R309Q	unknown	Het
Col3a1	G	A	1: 45,344,807		probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crtac1	A	G	19: 42,333,908	I131T	possibly damaging	Het
Decr1	C	T	4: 15,924,270	V217M	probably damaging	Het
Dnajc13	A	G	9: 104,174,525	V1706A	probably benign	Het
Dopey1	A	G	9: 86,487,304	I63M	probably damaging	Het
F830045P16Rik	T	C	2: 129,472,715	D214G	probably benign	Het
Fam216a	T	A	5: 122,367,521		probably null	Het
Fdxacb1	A	C	9: 50,772,087	H248P	possibly damaging	Het
Gnai1	A	T	5: 18,291,598	V109E	probably benign	Het
Helz2	A	T	2: 181,230,757		probably null	Het
Itgam	T	C	7: 128,116,317		probably null	Het
Kcnh1	A	G	1: 192,505,528	S766G	probably benign	Het
Klra1	C	A	6: 130,375,278	C167F	probably damaging	Het
Krtap9-3	T	A	11: 99,597,982	T25S	probably benign	Het
Mapk6	T	C	9: 75,388,344	Y624C	probably damaging	Het
Olfr1123	A	G	2: 87,418,843	Y263C	probably damaging	Het
Olfr1158	T	A	2: 87,990,763	Y217*	probably null	Het
Olfr1393	T	C	11: 49,280,382	V78A	probably damaging	Het
Olfr51	T	G	11: 51,007,554	I194S	probably damaging	Het
Olfr677	C	T	7: 105,056,453	S69L	probably damaging	Het
P3h2	A	G	16: 25,984,949	S356P	possibly damaging	Het
Pde12	C	T	14: 26,666,377		probably null	Het
Rln3	T	G	8: 84,043,237	K94N	probably damaging	Het
Skint5	T	C	4: 113,763,514	I668V	unknown	Het
Slitrk5	C	A	14: 111,679,420	Q159K	probably damaging	Het
Trim3	G	T	7: 105,619,509	N79K	probably damaging	Het
Tyw1	T	A	5: 130,267,915	C101*	probably null	Het
Ulk2	T	C	11: 61,781,711	T934A	probably benign	Het
Unc5b	T	C	10: 60,772,293	Y687C	probably benign	Het
Vmn1r195	C	T	13: 22,278,386	R9*	probably null	Het
Zfc3h1	T	G	10: 115,418,692	L1397R	probably damaging	Het
Zfp296	T	C	7: 19,577,407	V9A	probably benign	Het
Zfp423	T	A	8: 87,782,463	S397C	probably damaging	Het

Other mutations in Cand2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Cand2	APN	6	115785125	missense	probably benign
IGL01329:Cand2	APN	6	115782794	missense	probably benign	0.43
IGL01777:Cand2	APN	6	115792857	missense	probably damaging	0.99
IGL02008:Cand2	APN	6	115803638	missense	probably damaging	1.00
IGL02185:Cand2	APN	6	115789510	missense	probably benign	0.01
IGL02219:Cand2	APN	6	115803812	missense	probably damaging	1.00
IGL02240:Cand2	APN	6	115803662	missense	probably damaging	1.00
IGL02329:Cand2	APN	6	115789607	missense	probably damaging	1.00
IGL02396:Cand2	APN	6	115791188	splice site	probably benign
IGL02893:Cand2	APN	6	115791960	missense	probably damaging	1.00
IGL03161:Cand2	APN	6	115792737	missense	probably benign	0.45
IGL03170:Cand2	APN	6	115797900	missense	probably damaging	1.00
IGL03257:Cand2	APN	6	115799983	missense	possibly damaging	0.80
succor	UTSW	6	115791192	missense	probably damaging	1.00
R0196:Cand2	UTSW	6	115789502	missense	probably damaging	1.00
R0390:Cand2	UTSW	6	115774653	missense	possibly damaging	0.90
R0534:Cand2	UTSW	6	115787236	missense	probably damaging	0.96
R0630:Cand2	UTSW	6	115803805	missense	probably damaging	1.00
R0631:Cand2	UTSW	6	115803805	missense	probably damaging	1.00
R0662:Cand2	UTSW	6	115787210	missense	probably benign	0.00
R0671:Cand2	UTSW	6	115803805	missense	probably damaging	1.00
R0708:Cand2	UTSW	6	115803805	missense	probably damaging	1.00
R0849:Cand2	UTSW	6	115792391	missense	probably damaging	1.00
R1992:Cand2	UTSW	6	115785132	missense	possibly damaging	0.88
R3428:Cand2	UTSW	6	115789707	missense	probably benign
R3773:Cand2	UTSW	6	115785217	missense	probably damaging	0.96
R4329:Cand2	UTSW	6	115799988	missense	possibly damaging	0.64
R4489:Cand2	UTSW	6	115789466	missense	probably damaging	1.00
R4553:Cand2	UTSW	6	115792211	missense	probably damaging	1.00
R4577:Cand2	UTSW	6	115791259	missense	probably damaging	1.00
R4634:Cand2	UTSW	6	115797987	missense	probably damaging	1.00
R4850:Cand2	UTSW	6	115801948	missense	probably benign	0.14
R5155:Cand2	UTSW	6	115792258	missense	probably benign	0.42
R5378:Cand2	UTSW	6	115801951	missense	probably benign	0.00
R5407:Cand2	UTSW	6	115785200	missense	possibly damaging	0.76
R5698:Cand2	UTSW	6	115791743	missense	probably damaging	1.00
R5701:Cand2	UTSW	6	115797932	missense	probably damaging	0.99
R6172:Cand2	UTSW	6	115791310	missense	probably benign	0.00
R6763:Cand2	UTSW	6	115799969	missense	probably benign	0.00
R6920:Cand2	UTSW	6	115791289	missense	possibly damaging	0.93
R7229:Cand2	UTSW	6	115791192	missense	probably damaging	1.00
R7520:Cand2	UTSW	6	115785251	nonsense	probably null
R8183:Cand2	UTSW	6	115791918	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CACAGGTGTTCACTAGGGTG -3'
(R):5'- CATATTGAGGTTTCTGCCAGTCTG -3'

Sequencing Primer
(F):5'- CCAGTGGGCTGAATACTGATCATC -3'
(R):5'- AGTCTGGGTGGGCTCCTC -3'

Posted On

2016-07-06