Mutagenetix > Incidental Mutation

Incidental Mutation 'R6763:Cand2'

531776

Institutional Source

Beutler Lab

Gene Symbol

Cand2

Ensembl Gene

ENSMUSG00000030319

Gene Name

cullin associated and neddylation dissociated 2 (putative)

Synonyms

Tp120b, 2210404G23Rik

MMRRC Submission

044879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6763 (G1)

Quality Score

155.008

Status

Not validated

Chromosome

Chromosomal Location

115751518-115782516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115776930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1106 (M1106K)

Ref Sequence

ENSEMBL: ENSMUSP00000075377 (fasta)

Gene Model

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

AlphaFold

Q6ZQ73

Predicted Effect

probably benign
Transcript: ENSMUST00000075995
AA Change: M1106K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000075377
Gene: ENSMUSG00000030319
AA Change: M1106K

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	C	A	15: 102,248,457 (GRCm39)	R286L	probably null	Het
Actrt2	A	G	4: 154,751,836 (GRCm39)	V100A	probably damaging	Het
Adra1b	A	G	11: 43,666,833 (GRCm39)	L468P	possibly damaging	Het
Ankhd1	A	G	18: 36,776,022 (GRCm39)	E1457G	probably benign	Het
Aspm	A	T	1: 139,398,255 (GRCm39)	M974L	possibly damaging	Het
Atp8a2	T	A	14: 60,245,857 (GRCm39)	I612F	probably benign	Het
Cabin1	A	G	10: 75,582,564 (GRCm39)	L284P	probably damaging	Het
Ccbe1	A	T	18: 66,194,459 (GRCm39)	F376I	possibly damaging	Het
Ceacam14	A	G	7: 17,549,268 (GRCm39)	T220A	probably benign	Het
Celsr3	A	G	9: 108,704,549 (GRCm39)	D344G	probably damaging	Het
Chaf1b	A	G	16: 93,688,393 (GRCm39)	K163E	probably damaging	Het
Clec2d	C	A	6: 129,161,107 (GRCm39)	T68K	probably benign	Het
Cwc27	T	C	13: 104,947,809 (GRCm39)	T19A	probably damaging	Het
Dnah7c	A	T	1: 46,668,050 (GRCm39)	Y1519F	possibly damaging	Het
E130308A19Rik	A	T	4: 59,752,288 (GRCm39)	K467M	probably damaging	Het
Garnl3	T	C	2: 32,944,208 (GRCm39)	Y117C	probably damaging	Het
Gas2l3	T	C	10: 89,249,231 (GRCm39)	Y629C	probably benign	Het
Lama1	A	G	17: 68,053,868 (GRCm39)	N470D	unknown	Het
Lmtk2	T	A	5: 144,110,615 (GRCm39)	I445N	probably damaging	Het
Lrba	A	G	3: 86,261,570 (GRCm39)	D1508G	probably damaging	Het
Muc5b	A	G	7: 141,416,021 (GRCm39)	H2989R	probably benign	Het
Niban2	T	C	2: 32,801,460 (GRCm39)		probably null	Het
Nln	A	T	13: 104,172,163 (GRCm39)	W638R	probably damaging	Het
Nup133	T	C	8: 124,671,017 (GRCm39)	I127V	possibly damaging	Het
Nup155	C	T	15: 8,165,379 (GRCm39)	R672*	probably null	Het
Prkcb	A	G	7: 122,193,887 (GRCm39)	Y532C	probably damaging	Het
Ptpro	A	G	6: 137,395,279 (GRCm39)		probably null	Het
Rab11fip5	A	G	6: 85,319,152 (GRCm39)	L579S	probably benign	Het
Rtca	A	G	3: 116,301,398 (GRCm39)		probably null	Het
Sdccag8	A	G	1: 176,682,193 (GRCm39)		probably null	Het
Svil	G	T	18: 5,056,437 (GRCm39)	D524Y	probably damaging	Het
Unc80	A	G	1: 66,560,636 (GRCm39)	N788S	probably benign	Het
Wdfy4	G	T	14: 32,764,469 (GRCm39)	R2140S	probably damaging	Het
Zfp518a	A	G	19: 40,902,192 (GRCm39)	K707R	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
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
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'- ACCTGAGACTTGAGCGCATAG -3'
(R):5'- GGTTCCTTGTCCTTGACAGAAAG -3'

Sequencing Primer
(F):5'- CTTGAGCGCATAGAGTGTGAC -3'
(R):5'- TTGTCCTTGACAGAAAGCACAG -3'

Posted On

2018-08-29