Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02240:Cand2'

286041

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 #

IGL02240

Quality Score

Status

Chromosome

Chromosomal Location

115751518-115782516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115780623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1169 (E1169G)

Ref Sequence

ENSEMBL: ENSMUSP00000075377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075995] [ENSMUST00000081840] [ENSMUST00000203816]

AlphaFold

Q6ZQ73

Predicted Effect

probably damaging
Transcript: ENSMUST00000075995
AA Change: E1169G

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

SMART Domains

Protein: ENSMUSP00000075377
Gene: ENSMUSG00000030319
AA Change: E1169G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081840

SMART Domains

Protein: ENSMUSP00000080523
Gene: ENSMUSG00000057841

Domain	Start	End	E-Value	Type
Ribosomal_L32e	17	124	1.79e-82	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082629

Predicted Effect

probably benign
Transcript: ENSMUST00000203816

SMART Domains

Protein: ENSMUSP00000145350
Gene: ENSMUSG00000057841

Domain	Start	End	E-Value	Type
Ribosomal_L32e	17	124	1.79e-82	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc34	A	G	10: 79,523,823 (GRCm39)	D168G	possibly damaging	Het
Cwc27	A	T	13: 104,943,151 (GRCm39)	F130L	probably damaging	Het
Dglucy	T	A	12: 100,837,672 (GRCm39)	M635K	possibly damaging	Het
Eral1	G	A	11: 77,968,687 (GRCm39)	R149*	probably null	Het
Gad1-ps	A	G	10: 99,280,820 (GRCm39)		noncoding transcript	Het
Glis3	A	T	19: 28,508,925 (GRCm39)	L353Q	probably damaging	Het
Gsta2	T	A	9: 78,238,441 (GRCm39)	I213F	probably benign	Het
Ist1	A	T	8: 110,408,836 (GRCm39)		probably benign	Het
Kif1b	A	G	4: 149,330,871 (GRCm39)	V549A	probably damaging	Het
Lrp2	C	T	2: 69,365,390 (GRCm39)	R261H	probably benign	Het
Msh4	T	C	3: 153,579,311 (GRCm39)	N512S	probably damaging	Het
Nlrp2	A	T	7: 5,330,822 (GRCm39)	S525T	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or8b56	T	A	9: 38,739,602 (GRCm39)	V205D	probably benign	Het
Pcdhb10	A	T	18: 37,545,455 (GRCm39)	H177L	possibly damaging	Het
Plcb3	A	T	19: 6,935,448 (GRCm39)		probably benign	Het
Podxl	A	G	6: 31,501,933 (GRCm39)	L342P	probably damaging	Het
Psd4	T	G	2: 24,286,389 (GRCm39)	S330A	probably benign	Het
Sucla2	A	G	14: 73,828,287 (GRCm39)	D298G	probably damaging	Het
Tecr	T	C	8: 84,300,045 (GRCm39)	D107G	probably damaging	Het
Vamp4	T	A	1: 162,405,446 (GRCm39)	N24K	possibly damaging	Het
Zfp91	A	G	19: 12,753,770 (GRCm39)		probably benign	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
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
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