Incidental Mutation 'IGL02008:Cand2'
ID 183283
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 # IGL02008
Quality Score
Status
Chromosome 6
Chromosomal Location 115751518-115782516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115780599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1161 (V1161A)
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: V1161A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075377
Gene: ENSMUSG00000030319
AA Change: V1161A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Ribosomal_L32e 17 124 1.79e-82 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,969,750 (GRCm39) T2252A probably benign Het
Abcc2 C T 19: 43,810,189 (GRCm39) probably benign Het
Abcf1 T C 17: 36,272,954 (GRCm39) E231G probably benign Het
Astn2 T C 4: 65,977,390 (GRCm39) Y379C probably damaging Het
Atp8b1 G T 18: 64,671,766 (GRCm39) probably benign Het
Atr T A 9: 95,763,473 (GRCm39) probably benign Het
Bdp1 A G 13: 100,160,335 (GRCm39) S2349P possibly damaging Het
Bmp2 T C 2: 133,402,886 (GRCm39) S146P probably damaging Het
Cacna1c T C 6: 118,692,885 (GRCm39) S218G probably null Het
Clec16a T C 16: 10,398,824 (GRCm39) V330A probably damaging Het
Cpsf1 A T 15: 76,487,291 (GRCm39) V161D probably damaging Het
Ctsh A G 9: 89,943,600 (GRCm39) Y75C probably damaging Het
Cyp26c1 C A 19: 37,677,371 (GRCm39) L267M probably damaging Het
Cyp26c1 T A 19: 37,677,372 (GRCm39) L267Q probably damaging Het
Cyp2c50 G A 19: 40,079,543 (GRCm39) W212* probably null Het
Dnah5 T A 15: 28,343,698 (GRCm39) M2366K probably damaging Het
Ermp1 A G 19: 29,590,320 (GRCm39) M794T probably damaging Het
F11 G T 8: 45,703,132 (GRCm39) S186Y probably damaging Het
Fam184b A T 5: 45,690,165 (GRCm39) F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 (GRCm38) I347V probably benign Het
Fip1l1 C T 5: 74,706,084 (GRCm39) T114I possibly damaging Het
Gbp7 A C 3: 142,252,211 (GRCm39) D598A probably benign Het
Gm1110 T A 9: 26,794,526 (GRCm39) D500V probably benign Het
Gm3248 T A 14: 5,943,928 (GRCm38) M99L probably benign Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Hspa9 G A 18: 35,081,028 (GRCm39) R218* probably null Het
Ikbip G A 10: 90,929,119 (GRCm39) probably null Het
Kcnb2 C T 1: 15,781,033 (GRCm39) T635M probably benign Het
Krtap29-1 T A 11: 99,869,105 (GRCm39) I259F possibly damaging Het
Lnpep T C 17: 17,791,219 (GRCm39) T442A probably benign Het
Mgat1 T A 11: 49,151,562 (GRCm39) I15N probably damaging Het
Nlrp9c A T 7: 26,084,576 (GRCm39) S334R probably benign Het
Notch2 A T 3: 98,054,612 (GRCm39) D2425V probably damaging Het
Ntn1 C T 11: 68,104,089 (GRCm39) V520M probably damaging Het
Or10d1b A G 9: 39,613,549 (GRCm39) V172A probably damaging Het
Or4p18 T A 2: 88,232,421 (GRCm39) T286S possibly damaging Het
Or5d39 A T 2: 87,979,922 (GRCm39) V147E probably damaging Het
Or6c3b T A 10: 129,527,887 (GRCm39) T8S probably benign Het
Or8g55 A T 9: 39,784,781 (GRCm39) D70V probably damaging Het
Or8k39 A C 2: 86,563,521 (GRCm39) I145R possibly damaging Het
Osr2 A G 15: 35,302,138 (GRCm39) H246R probably damaging Het
Papolg T C 11: 23,829,898 (GRCm39) R224G probably damaging Het
Pax6 T A 2: 105,522,623 (GRCm39) probably null Het
Pcyox1 A G 6: 86,369,250 (GRCm39) V192A probably benign Het
Phf1 C T 17: 27,154,260 (GRCm39) A159V possibly damaging Het
Ppfia4 G A 1: 134,260,129 (GRCm39) R45W probably damaging Het
Psmb9 T A 17: 34,402,653 (GRCm39) K109M probably damaging Het
Ptprt T A 2: 161,769,593 (GRCm39) Y424F probably benign Het
Ptrh2 A G 11: 86,580,592 (GRCm39) I70V probably benign Het
Rnf213 G A 11: 119,309,135 (GRCm39) probably benign Het
Rom1 T A 19: 8,905,368 (GRCm39) I271F probably benign Het
Satb2 T A 1: 56,835,952 (GRCm39) D731V possibly damaging Het
Serpinb7 G T 1: 107,375,859 (GRCm39) G159V possibly damaging Het
Slit1 T C 19: 41,634,579 (GRCm39) I393V probably damaging Het
Spata20 T A 11: 94,374,289 (GRCm39) D327V probably damaging Het
Spata31e3 G A 13: 50,400,721 (GRCm39) P535L probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Tbc1d32 G T 10: 56,027,871 (GRCm39) Q744K possibly damaging Het
Tmem108 G T 9: 103,366,439 (GRCm39) N517K possibly damaging Het
Trp63 T A 16: 25,681,211 (GRCm39) N160K probably damaging Het
Ttll5 T C 12: 85,980,385 (GRCm39) S119P probably damaging Het
Ubqln3 T A 7: 103,791,523 (GRCm39) Q189L probably damaging Het
Vwa5a G A 9: 38,649,072 (GRCm39) R638H probably benign Het
Wdr3 A G 3: 100,058,298 (GRCm39) S436P probably damaging Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfp976 A T 7: 42,263,656 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,657,303 (GRCm39) M860V probably damaging Het
Zscan4d T C 7: 10,896,296 (GRCm39) E358G probably benign Het
Other mutations in Cand2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2014-05-07