Incidental Mutation 'IGL01998:Ncapd2'
ID 182978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncapd2
Ensembl Gene ENSMUSG00000038252
Gene Name non-SMC condensin I complex, subunit D2
Synonyms 2810406C15Rik, CAP-D2, CNAP1, 2810465G24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL01998
Quality Score
Status
Chromosome 6
Chromosomal Location 125144970-125168664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125146896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 1230 (L1230H)
Ref Sequence ENSEMBL: ENSMUSP00000042260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043848] [ENSMUST00000073605] [ENSMUST00000117757] [ENSMUST00000118875] [ENSMUST00000182052] [ENSMUST00000182277] [ENSMUST00000183272]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043848
AA Change: L1230H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: L1230H

DomainStartEndE-ValueType
Pfam:Cnd1_N 75 240 1.4e-41 PFAM
low complexity region 461 472 N/A INTRINSIC
low complexity region 936 949 N/A INTRINSIC
Pfam:Cnd1 1058 1224 2.5e-65 PFAM
low complexity region 1329 1345 N/A INTRINSIC
low complexity region 1357 1369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073605
SMART Domains Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 143 4.2e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117757
SMART Domains Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 150 7.33e-109 SMART
Pfam:Gp_dh_C 155 312 5.2e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118875
SMART Domains Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 150 7.33e-109 SMART
Pfam:Gp_dh_C 155 312 7.4e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144588
Predicted Effect probably benign
Transcript: ENSMUST00000182052
SMART Domains Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 1 55 2.96e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182115
Predicted Effect probably benign
Transcript: ENSMUST00000182277
SMART Domains Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 57 2.75e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186667
Predicted Effect probably benign
Transcript: ENSMUST00000183272
SMART Domains Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 107 7.93e-64 SMART
Pfam:Gp_dh_C 112 269 3e-76 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc3 T C 5: 122,541,470 (GRCm39) C78R probably damaging Het
Atp6v0b A G 4: 117,743,263 (GRCm39) probably null Het
B3gnt8 A G 7: 25,328,203 (GRCm39) Y211C probably damaging Het
Birc6 T C 17: 74,886,880 (GRCm39) I736T probably benign Het
Bltp1 T C 3: 37,011,165 (GRCm39) S1788P possibly damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
C3ar1 A T 6: 122,827,899 (GRCm39) M106K probably damaging Het
C9orf72 A T 4: 35,194,179 (GRCm39) D205E probably benign Het
Cab39l T A 14: 59,734,344 (GRCm39) L21Q probably damaging Het
Casp1 A T 9: 5,303,043 (GRCm39) I166F probably damaging Het
Cd180 A G 13: 102,841,722 (GRCm39) E256G probably damaging Het
Clca4a T C 3: 144,663,887 (GRCm39) T519A probably damaging Het
Clstn3 A T 6: 124,435,622 (GRCm39) L233Q probably damaging Het
Crlf3 G A 11: 79,948,845 (GRCm39) probably benign Het
Depdc5 T C 5: 33,102,495 (GRCm39) probably benign Het
Drc7 T A 8: 95,785,821 (GRCm39) C226S probably damaging Het
Epha5 T A 5: 84,232,593 (GRCm39) D807V probably damaging Het
Fat2 A G 11: 55,187,021 (GRCm39) L1275P probably benign Het
Fv1 T C 4: 147,953,784 (GRCm39) C117R possibly damaging Het
Ighg2b C A 12: 113,270,709 (GRCm39) M140I unknown Het
Klra5 A T 6: 129,883,676 (GRCm39) Y60* probably null Het
Lmtk2 C T 5: 144,112,883 (GRCm39) T1201I probably damaging Het
Nfx1 T A 4: 41,004,353 (GRCm39) I708N probably damaging Het
Notch2 A T 3: 98,050,422 (GRCm39) D1899V probably damaging Het
Npepl1 T A 2: 173,957,993 (GRCm39) probably benign Het
Nps T A 7: 134,870,481 (GRCm39) probably benign Het
Nrg1 T C 8: 32,408,162 (GRCm39) S24G probably damaging Het
Or1j20 A G 2: 36,759,658 (GRCm39) N27D probably benign Het
Or2ag16 G A 7: 106,351,758 (GRCm39) T279M possibly damaging Het
Or2t48 A T 11: 58,420,403 (GRCm39) Y136* probably null Het
Or4k2 C A 14: 50,424,105 (GRCm39) V190L probably benign Het
Pigx G T 16: 31,903,428 (GRCm39) T211K probably benign Het
Pink1 A G 4: 138,048,053 (GRCm39) I223T probably damaging Het
Plat G A 8: 23,257,163 (GRCm39) A15T probably benign Het
Ptges2 G A 2: 32,291,542 (GRCm39) A310T possibly damaging Het
Rsl1d1 A G 16: 11,012,509 (GRCm39) S306P possibly damaging Het
Rxfp1 T C 3: 79,567,403 (GRCm39) K316E probably benign Het
Scn10a A G 9: 119,438,742 (GRCm39) I1708T probably damaging Het
Sdk2 A T 11: 113,729,358 (GRCm39) F1073Y probably damaging Het
Sp100 A G 1: 85,594,650 (GRCm39) D170G probably benign Het
Spock1 A T 13: 57,583,994 (GRCm39) probably benign Het
Strbp A G 2: 37,515,297 (GRCm39) L243P probably damaging Het
Tex55 A T 16: 38,648,586 (GRCm39) D174E probably benign Het
Tgm5 T A 2: 120,882,920 (GRCm39) T446S probably damaging Het
Tmem59l C T 8: 70,937,431 (GRCm39) V239I probably benign Het
Trav8-1 A T 14: 53,707,662 (GRCm39) T101S probably benign Het
Triml1 T C 8: 43,594,350 (GRCm39) D27G probably damaging Het
Vmn2r54 T C 7: 12,349,227 (GRCm39) E785G probably benign Het
Vps13c A G 9: 67,862,350 (GRCm39) probably null Het
Wwp2 C T 8: 108,276,153 (GRCm39) R64C probably damaging Het
Zfp608 T C 18: 55,024,890 (GRCm39) H1460R probably damaging Het
Other mutations in Ncapd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Ncapd2 APN 6 125,150,388 (GRCm39) missense probably benign 0.05
IGL00960:Ncapd2 APN 6 125,150,811 (GRCm39) missense probably benign
IGL01307:Ncapd2 APN 6 125,145,582 (GRCm39) missense possibly damaging 0.56
IGL01612:Ncapd2 APN 6 125,154,835 (GRCm39) missense probably benign 0.01
IGL01903:Ncapd2 APN 6 125,154,423 (GRCm39) missense probably benign
IGL01987:Ncapd2 APN 6 125,162,804 (GRCm39) splice site probably benign
IGL01998:Ncapd2 APN 6 125,150,078 (GRCm39) missense probably benign 0.18
IGL02329:Ncapd2 APN 6 125,166,781 (GRCm39) missense probably damaging 0.99
IGL02550:Ncapd2 APN 6 125,154,410 (GRCm39) missense probably benign
IGL02662:Ncapd2 APN 6 125,153,694 (GRCm39) missense probably damaging 1.00
IGL02817:Ncapd2 APN 6 125,147,877 (GRCm39) critical splice donor site probably null
IGL03121:Ncapd2 APN 6 125,150,575 (GRCm39) missense probably benign 0.00
IGL03206:Ncapd2 APN 6 125,148,660 (GRCm39) missense possibly damaging 0.85
FR4548:Ncapd2 UTSW 6 125,150,559 (GRCm39) critical splice donor site probably benign
PIT4305001:Ncapd2 UTSW 6 125,160,990 (GRCm39) nonsense probably null
R0486:Ncapd2 UTSW 6 125,160,990 (GRCm39) nonsense probably null
R0635:Ncapd2 UTSW 6 125,149,999 (GRCm39) missense probably benign 0.00
R0699:Ncapd2 UTSW 6 125,146,843 (GRCm39) missense probably benign
R0746:Ncapd2 UTSW 6 125,151,227 (GRCm39) missense possibly damaging 0.50
R0893:Ncapd2 UTSW 6 125,150,445 (GRCm39) missense probably benign
R1385:Ncapd2 UTSW 6 125,150,078 (GRCm39) missense probably benign 0.18
R1513:Ncapd2 UTSW 6 125,147,955 (GRCm39) missense probably damaging 1.00
R1601:Ncapd2 UTSW 6 125,162,735 (GRCm39) missense probably damaging 1.00
R1698:Ncapd2 UTSW 6 125,145,553 (GRCm39) missense probably null 0.39
R2030:Ncapd2 UTSW 6 125,153,678 (GRCm39) missense possibly damaging 0.95
R2035:Ncapd2 UTSW 6 125,161,491 (GRCm39) missense probably benign 0.17
R2359:Ncapd2 UTSW 6 125,156,379 (GRCm39) unclassified probably benign
R3951:Ncapd2 UTSW 6 125,163,747 (GRCm39) missense probably damaging 0.98
R3952:Ncapd2 UTSW 6 125,163,747 (GRCm39) missense probably damaging 0.98
R3953:Ncapd2 UTSW 6 125,147,697 (GRCm39) missense probably damaging 0.96
R4623:Ncapd2 UTSW 6 125,150,572 (GRCm39) missense probably benign 0.04
R4630:Ncapd2 UTSW 6 125,156,196 (GRCm39) splice site probably null
R4667:Ncapd2 UTSW 6 125,161,481 (GRCm39) missense possibly damaging 0.69
R4769:Ncapd2 UTSW 6 125,162,708 (GRCm39) missense probably damaging 1.00
R4936:Ncapd2 UTSW 6 125,146,803 (GRCm39) missense probably benign 0.18
R5130:Ncapd2 UTSW 6 125,146,887 (GRCm39) missense possibly damaging 0.90
R5465:Ncapd2 UTSW 6 125,153,746 (GRCm39) missense probably damaging 0.98
R5806:Ncapd2 UTSW 6 125,158,117 (GRCm39) missense probably damaging 0.98
R5823:Ncapd2 UTSW 6 125,145,663 (GRCm39) missense probably benign 0.00
R5888:Ncapd2 UTSW 6 125,164,052 (GRCm39) missense probably damaging 1.00
R5940:Ncapd2 UTSW 6 125,145,832 (GRCm39) missense probably benign
R6198:Ncapd2 UTSW 6 125,156,286 (GRCm39) nonsense probably null
R6406:Ncapd2 UTSW 6 125,150,841 (GRCm39) missense probably benign
R6652:Ncapd2 UTSW 6 125,163,233 (GRCm39) missense probably benign 0.13
R6959:Ncapd2 UTSW 6 125,145,883 (GRCm39) missense probably benign
R6977:Ncapd2 UTSW 6 125,148,472 (GRCm39) missense probably damaging 1.00
R6982:Ncapd2 UTSW 6 125,153,699 (GRCm39) missense probably damaging 0.96
R7143:Ncapd2 UTSW 6 125,156,524 (GRCm39) missense probably benign
R7144:Ncapd2 UTSW 6 125,153,633 (GRCm39) missense probably benign 0.11
R7186:Ncapd2 UTSW 6 125,163,119 (GRCm39) missense possibly damaging 0.89
R7203:Ncapd2 UTSW 6 125,161,291 (GRCm39) missense possibly damaging 0.58
R7384:Ncapd2 UTSW 6 125,150,364 (GRCm39) missense probably benign
R8039:Ncapd2 UTSW 6 125,157,989 (GRCm39) missense probably damaging 0.98
R8047:Ncapd2 UTSW 6 125,166,762 (GRCm39) missense probably damaging 0.98
R8048:Ncapd2 UTSW 6 125,156,661 (GRCm39) nonsense probably null
R8056:Ncapd2 UTSW 6 125,148,006 (GRCm39) missense probably damaging 1.00
R8097:Ncapd2 UTSW 6 125,145,945 (GRCm39) missense possibly damaging 0.78
R8489:Ncapd2 UTSW 6 125,150,745 (GRCm39) missense probably damaging 0.98
R8496:Ncapd2 UTSW 6 125,147,127 (GRCm39) missense probably damaging 0.99
R8755:Ncapd2 UTSW 6 125,148,817 (GRCm39) missense possibly damaging 0.69
R8776:Ncapd2 UTSW 6 125,154,476 (GRCm39) missense probably benign
R8776-TAIL:Ncapd2 UTSW 6 125,154,476 (GRCm39) missense probably benign
R9015:Ncapd2 UTSW 6 125,145,285 (GRCm39) unclassified probably benign
R9042:Ncapd2 UTSW 6 125,156,301 (GRCm39) missense probably benign
R9358:Ncapd2 UTSW 6 125,163,106 (GRCm39) missense probably benign 0.00
R9437:Ncapd2 UTSW 6 125,153,655 (GRCm39) missense probably damaging 0.99
RF045:Ncapd2 UTSW 6 125,156,199 (GRCm39) frame shift probably null
Posted On 2014-05-07