Mutagenetix > Incidental Mutation

Incidental Mutation 'R4577:Cand2'

342547

Institutional Source

Beutler Lab

Gene Symbol

Cand2

Ensembl Gene

ENSMUSG00000030319

Gene Name

cullin associated and neddylation dissociated 2 (putative)

Synonyms

Tp120b, 2210404G23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115751518-115782516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115768220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 455 (C455Y)

Ref Sequence

ENSEMBL: ENSMUSP00000075377 (fasta)

Gene Model

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

AlphaFold

Q6ZQ73

Predicted Effect

probably damaging
Transcript: ENSMUST00000075995
AA Change: C455Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075377
Gene: ENSMUSG00000030319
AA Change: C455Y

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: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,430,323 (GRCm39)	I222S	probably damaging	Het
Abca1	C	A	4: 53,062,568 (GRCm39)	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,364,892 (GRCm39)	E1524G	probably damaging	Het
Ankrd50	A	G	3: 38,510,090 (GRCm39)	V759A	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cacna1e	A	T	1: 154,277,773 (GRCm39)	S2060T	possibly damaging	Het
Cdh16	T	C	8: 105,345,191 (GRCm39)	D366G	probably damaging	Het
Cep170b	A	G	12: 112,711,152 (GRCm39)	R595G	probably damaging	Het
Chaf1a	G	A	17: 56,372,184 (GRCm39)	R784Q	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clca4a	C	A	3: 144,660,730 (GRCm39)	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,396 (GRCm39)	Y1195S	probably benign	Het
Dynlt4	A	G	4: 116,985,812 (GRCm39)	T212A	possibly damaging	Het
Dysf	T	C	6: 84,114,308 (GRCm39)	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
F3	A	G	3: 121,527,763 (GRCm39)	I254V	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397 (GRCm39)	F270S	probably damaging	Het
Galnt3	T	C	2: 65,928,203 (GRCm39)	Y231C	probably benign	Het
Gm10220	A	C	5: 26,322,869 (GRCm39)	I181S	probably benign	Het
Gnb5	G	A	9: 75,250,823 (GRCm39)	V316I	possibly damaging	Het
Gys2	A	G	6: 142,400,236 (GRCm39)	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,694,668 (GRCm39)		probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighg2b	T	C	12: 113,270,512 (GRCm39)	E206G	unknown	Het
Iqub	A	T	6: 24,501,290 (GRCm39)	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,158,063 (GRCm39)	K4R	unknown	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,570,486 (GRCm39)	E655K	probably benign	Het
Lrp1b	C	T	2: 40,711,731 (GRCm39)	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,750,550 (GRCm39)	R934*	probably null	Het
Map4	A	G	9: 109,910,489 (GRCm39)	T1061A	possibly damaging	Het
Mbnl1	G	A	3: 60,437,199 (GRCm39)	V50I	probably damaging	Het
Med15	G	A	16: 17,492,379 (GRCm39)	Q132*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mtmr3	G	C	11: 4,447,375 (GRCm39)	L361V	probably damaging	Het
Myo5a	A	G	9: 75,124,827 (GRCm39)	E1792G	probably damaging	Het
Nup88	C	A	11: 70,860,543 (GRCm39)	A55S	probably damaging	Het
Or1ab2	T	A	8: 72,864,167 (GRCm39)	Y252*	probably null	Het
Or4a79	T	C	2: 89,552,387 (GRCm39)	K23E	possibly damaging	Het
Pacs1	G	T	19: 5,193,861 (GRCm39)	S556*	probably null	Het
Parp4	A	G	14: 56,827,867 (GRCm39)	E206G	probably benign	Het
Paxbp1	T	G	16: 90,812,042 (GRCm39)	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,802,302 (GRCm39)	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,609,014 (GRCm39)	L292*	probably null	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Plec	C	A	15: 76,068,269 (GRCm39)	Q1142H	possibly damaging	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Prss28	T	C	17: 25,529,079 (GRCm39)	V140A	probably damaging	Het
Rad17	A	T	13: 100,769,786 (GRCm39)	S258T	probably damaging	Het
Rnf111	A	T	9: 70,336,866 (GRCm39)	C932*	probably null	Het
Sdc2	T	C	15: 33,017,278 (GRCm39)	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,500,675 (GRCm39)	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,310,451 (GRCm39)	V327G	possibly damaging	Het
Setd1b	A	G	5: 123,286,679 (GRCm39)	E575G	unknown	Het
Slco1a4	A	T	6: 141,765,266 (GRCm39)	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,648,787 (GRCm39)	V156L	possibly damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Speg	A	G	1: 75,392,039 (GRCm39)	D1607G	probably damaging	Het
Tmem101	T	A	11: 102,046,663 (GRCm39)	M69L	possibly damaging	Het
Treh	G	A	9: 44,597,208 (GRCm39)	M542I	probably benign	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,623,441 (GRCm39)	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,320,789 (GRCm39)	T106A	probably damaging	Het
Wdr27	T	C	17: 15,123,724 (GRCm39)	H583R	probably benign	Het
Xirp2	C	T	2: 67,344,241 (GRCm39)	P2161S	probably damaging	Het

Other mutations in Cand2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Cand2	APN	6	115,762,086 (GRCm39)	missense	probably benign
IGL01329:Cand2	APN	6	115,759,755 (GRCm39)	missense	probably benign	0.43
IGL01777:Cand2	APN	6	115,769,818 (GRCm39)	missense	probably damaging	0.99
IGL02008:Cand2	APN	6	115,780,599 (GRCm39)	missense	probably damaging	1.00
IGL02185:Cand2	APN	6	115,766,471 (GRCm39)	missense	probably benign	0.01
IGL02219:Cand2	APN	6	115,780,773 (GRCm39)	missense	probably damaging	1.00
IGL02240:Cand2	APN	6	115,780,623 (GRCm39)	missense	probably damaging	1.00
IGL02329:Cand2	APN	6	115,766,568 (GRCm39)	missense	probably damaging	1.00
IGL02396:Cand2	APN	6	115,768,149 (GRCm39)	splice site	probably benign
IGL02893:Cand2	APN	6	115,768,921 (GRCm39)	missense	probably damaging	1.00
IGL03161:Cand2	APN	6	115,769,698 (GRCm39)	missense	probably benign	0.45
IGL03170:Cand2	APN	6	115,774,861 (GRCm39)	missense	probably damaging	1.00
IGL03257:Cand2	APN	6	115,776,944 (GRCm39)	missense	possibly damaging	0.80
succor	UTSW	6	115,768,153 (GRCm39)	missense	probably damaging	1.00
R0196:Cand2	UTSW	6	115,766,463 (GRCm39)	missense	probably damaging	1.00
R0390:Cand2	UTSW	6	115,751,614 (GRCm39)	missense	possibly damaging	0.90
R0534:Cand2	UTSW	6	115,764,197 (GRCm39)	missense	probably damaging	0.96
R0630:Cand2	UTSW	6	115,780,766 (GRCm39)	missense	probably damaging	1.00
R0631:Cand2	UTSW	6	115,780,766 (GRCm39)	missense	probably damaging	1.00
R0662:Cand2	UTSW	6	115,764,171 (GRCm39)	missense	probably benign	0.00
R0671:Cand2	UTSW	6	115,780,766 (GRCm39)	missense	probably damaging	1.00
R0708:Cand2	UTSW	6	115,780,766 (GRCm39)	missense	probably damaging	1.00
R0849:Cand2	UTSW	6	115,769,352 (GRCm39)	missense	probably damaging	1.00
R1992:Cand2	UTSW	6	115,762,093 (GRCm39)	missense	possibly damaging	0.88
R3428:Cand2	UTSW	6	115,766,668 (GRCm39)	missense	probably benign
R3773:Cand2	UTSW	6	115,762,178 (GRCm39)	missense	probably damaging	0.96
R4329:Cand2	UTSW	6	115,776,949 (GRCm39)	missense	possibly damaging	0.64
R4489:Cand2	UTSW	6	115,766,427 (GRCm39)	missense	probably damaging	1.00
R4553:Cand2	UTSW	6	115,769,172 (GRCm39)	missense	probably damaging	1.00
R4634:Cand2	UTSW	6	115,774,948 (GRCm39)	missense	probably damaging	1.00
R4850:Cand2	UTSW	6	115,778,909 (GRCm39)	missense	probably benign	0.14
R5155:Cand2	UTSW	6	115,769,219 (GRCm39)	missense	probably benign	0.42
R5190:Cand2	UTSW	6	115,766,474 (GRCm39)	missense	probably damaging	1.00
R5378:Cand2	UTSW	6	115,778,912 (GRCm39)	missense	probably benign	0.00
R5407:Cand2	UTSW	6	115,762,161 (GRCm39)	missense	possibly damaging	0.76
R5698:Cand2	UTSW	6	115,768,704 (GRCm39)	missense	probably damaging	1.00
R5701:Cand2	UTSW	6	115,774,893 (GRCm39)	missense	probably damaging	0.99
R6172:Cand2	UTSW	6	115,768,271 (GRCm39)	missense	probably benign	0.00
R6763:Cand2	UTSW	6	115,776,930 (GRCm39)	missense	probably benign	0.00
R6920:Cand2	UTSW	6	115,768,250 (GRCm39)	missense	possibly damaging	0.93
R7229:Cand2	UTSW	6	115,768,153 (GRCm39)	missense	probably damaging	1.00
R7520:Cand2	UTSW	6	115,762,212 (GRCm39)	nonsense	probably null
R8183:Cand2	UTSW	6	115,768,879 (GRCm39)	missense	probably benign	0.14
R8698:Cand2	UTSW	6	115,763,852 (GRCm39)	missense	probably damaging	1.00
R8755:Cand2	UTSW	6	115,769,941 (GRCm39)	missense	probably damaging	1.00
R8795:Cand2	UTSW	6	115,763,889 (GRCm39)	missense	probably benign	0.01
R8900:Cand2	UTSW	6	115,757,894 (GRCm39)	missense	probably benign	0.00
R9072:Cand2	UTSW	6	115,769,490 (GRCm39)	missense	probably damaging	0.99
R9242:Cand2	UTSW	6	115,768,923 (GRCm39)	missense	probably benign	0.27
R9262:Cand2	UTSW	6	115,759,730 (GRCm39)	missense	probably benign	0.27
R9547:Cand2	UTSW	6	115,759,757 (GRCm39)	missense	probably benign	0.00
R9676:Cand2	UTSW	6	115,769,122 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CTGCAGAGTCTGAATCAGGTG -3'
(R):5'- ACCACCATGAGCCATCTTCG -3'

Sequencing Primer
(F):5'- CTGCAGAGTCTGAATCAGGTGACTAG -3'
(R):5'- ATGAGCCATCTTCGCACAGG -3'

Posted On

2015-09-24