Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03161:Cand2'

411425

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03161

Quality Score

Status

Chromosome

Chromosomal Location

115751518-115782516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115769698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 836 (T836K)

Ref Sequence

ENSEMBL: ENSMUSP00000075377 (fasta)

Gene Model

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

AlphaFold

Q6ZQ73

Predicted Effect

probably benign
Transcript: ENSMUST00000075995
AA Change: T836K

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075377
Gene: ENSMUSG00000030319
AA Change: T836K

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	C	3: 79,536,493 (GRCm39)		probably benign	Het
Abtb2	G	T	2: 103,397,799 (GRCm39)	R243L	probably benign	Het
Adamts12	A	G	15: 11,292,168 (GRCm39)	E871G	possibly damaging	Het
Ascc3	A	T	10: 50,494,168 (GRCm39)	N201I	probably damaging	Het
Aste1	A	T	9: 105,273,871 (GRCm39)	H37L	probably damaging	Het
Atp1a2	T	A	1: 172,106,429 (GRCm39)		probably benign	Het
Dnah7c	G	A	1: 46,506,456 (GRCm39)	A178T	probably benign	Het
Dnm2	A	G	9: 21,397,020 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,900,987 (GRCm39)	D326G	probably damaging	Het
Fignl1	A	C	11: 11,752,680 (GRCm39)	M125R	probably benign	Het
Gabarapl2	T	A	8: 112,669,168 (GRCm39)	V42D	probably benign	Het
Hivep2	T	C	10: 14,019,100 (GRCm39)	V1957A	probably damaging	Het
Hps1	T	C	19: 42,755,710 (GRCm39)	E172G	probably damaging	Het
Il16	T	C	7: 83,371,707 (GRCm39)	D33G	probably damaging	Het
Lamb1	A	G	12: 31,376,255 (GRCm39)	N1542D	probably benign	Het
Mllt6	T	C	11: 97,557,977 (GRCm39)	Y179H	probably benign	Het
Muc4	T	C	16: 32,570,766 (GRCm39)	S609P	possibly damaging	Het
Nacad	G	A	11: 6,550,378 (GRCm39)	Q938*	probably null	Het
Odad3	A	G	9: 21,913,611 (GRCm39)	S54P	probably benign	Het
Or4k45	T	C	2: 111,395,676 (GRCm39)	I38V	possibly damaging	Het
Or4p22	G	A	2: 88,317,792 (GRCm39)	A239T	probably benign	Het
Pik3c3	C	T	18: 30,426,760 (GRCm39)	T292I	probably benign	Het
Prss3b	A	T	6: 41,011,240 (GRCm39)	H47Q	probably damaging	Het
Slit3	T	C	11: 35,591,241 (GRCm39)	V1351A	probably benign	Het
Spg7	T	C	8: 123,814,070 (GRCm39)	M443T	probably damaging	Het
Spmip9	T	C	6: 70,890,519 (GRCm39)	E91G	probably benign	Het
Tcof1	A	G	18: 60,966,560 (GRCm39)	S344P	possibly damaging	Het
Tm4sf5	T	A	11: 70,401,098 (GRCm39)	S105T	probably benign	Het
Tmem119	A	G	5: 113,932,961 (GRCm39)	V280A	possibly damaging	Het
Trbv20	A	T	6: 41,165,757 (GRCm39)	I61L	probably benign	Het
Trip12	T	C	1: 84,738,853 (GRCm39)		probably benign	Het
Vmn1r32	T	A	6: 66,530,204 (GRCm39)	M191L	possibly damaging	Het
Vta1	A	T	10: 14,543,716 (GRCm39)	H219Q	possibly 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
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
R4577:Cand2	UTSW	6	115,768,220 (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

Posted On

2016-08-02