Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02329:Cand2'

288596

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 #

IGL02329

Quality Score

Status

Chromosome

Chromosomal Location

115751518-115782516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115766568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 391 (V391A)

Ref Sequence

ENSEMBL: ENSMUSP00000075377 (fasta)

Gene Model

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

AlphaFold

Q6ZQ73

Predicted Effect

probably damaging
Transcript: ENSMUST00000075995
AA Change: V391A

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

SMART Domains

Protein: ENSMUSP00000075377
Gene: ENSMUSG00000030319
AA Change: V391A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	T	C	19: 6,299,959 (GRCm39)		probably null	Het
Bfsp1	T	C	2: 143,704,566 (GRCm39)	T96A	probably benign	Het
Btnl1	A	G	17: 34,601,239 (GRCm39)	E322G	possibly damaging	Het
Ccdc169	A	G	3: 55,078,702 (GRCm39)	M188V	probably benign	Het
Cngb1	T	C	8: 95,968,987 (GRCm39)	I1174V	probably benign	Het
Cpeb4	T	C	11: 31,822,316 (GRCm39)	V10A	possibly damaging	Het
Cpt1b	T	C	15: 89,307,942 (GRCm39)	T206A	probably benign	Het
Dapk3	T	C	10: 81,025,999 (GRCm39)	S97P	probably benign	Het
Drc3	T	C	11: 60,261,404 (GRCm39)	L185P	probably damaging	Het
Efr3b	T	C	12: 4,042,923 (GRCm39)		probably null	Het
Erbb3	T	A	10: 128,409,088 (GRCm39)	I742F	probably damaging	Het
Fktn	A	G	4: 53,720,181 (GRCm39)	Y65C	probably benign	Het
Fstl5	G	A	3: 76,496,302 (GRCm39)	G355D	probably damaging	Het
Grm8	A	T	6: 27,363,115 (GRCm39)	I800N	probably damaging	Het
Gss	C	T	2: 155,409,773 (GRCm39)	R221H	probably benign	Het
H2-M10.4	A	T	17: 36,771,359 (GRCm39)	V273D	probably damaging	Het
Large1	C	A	8: 73,774,945 (GRCm39)	W255L	possibly damaging	Het
Meig1	T	C	2: 3,410,288 (GRCm39)	K71E	probably damaging	Het
Mtor	A	G	4: 148,619,396 (GRCm39)	N1760D	probably benign	Het
Ncapd2	A	T	6: 125,166,781 (GRCm39)	N24K	probably damaging	Het
Nphp3	A	C	9: 103,903,167 (GRCm39)	S715R	probably benign	Het
Papolg	T	G	11: 23,841,869 (GRCm39)	H18P	probably damaging	Het
Psd	T	C	19: 46,308,098 (GRCm39)	H667R	possibly damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rtp1	T	C	16: 23,249,943 (GRCm39)	S103P	probably damaging	Het
Snx21	T	C	2: 164,634,310 (GRCm39)		probably benign	Het
Spmip3	A	T	1: 177,570,867 (GRCm39)	Q67L	probably benign	Het
Tiam1	G	T	16: 89,596,924 (GRCm39)	H301N	probably benign	Het
Trcg1	A	T	9: 57,147,676 (GRCm39)	I11F	possibly damaging	Het
Trpm6	A	G	19: 18,831,581 (GRCm39)	K1482R	probably benign	Het
Tyw1	G	T	5: 130,295,921 (GRCm39)	G116V	probably benign	Het
Zfp341	T	C	2: 154,474,224 (GRCm39)	C343R	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
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
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

2015-04-16