Incidental Mutation 'IGL02894:AF529169'
ID363328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AF529169
Ensembl Gene ENSMUSG00000039313
Gene NamecDNA sequence AF529169
SynonymsDD1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02894
Quality Score
Status
Chromosome9
Chromosomal Location89587216-89623125 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 89603102 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 81 (I81L)
Ref Sequence ENSEMBL: ENSMUSP00000140942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044491] [ENSMUST00000191465]
Predicted Effect probably benign
Transcript: ENSMUST00000044491
AA Change: I81L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000046111
Gene: ENSMUSG00000039313
AA Change: I81L

DomainStartEndE-ValueType
low complexity region 508 522 N/A INTRINSIC
Pfam:UPF0258 760 915 8.7e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191465
AA Change: I81L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140942
Gene: ENSMUSG00000039313
AA Change: I81L

DomainStartEndE-ValueType
low complexity region 508 522 N/A INTRINSIC
Pfam:UPF0258 759 854 6.1e-38 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A T 3: 91,088,393 F67L probably benign Het
A630023A22Rik T A 14: 34,054,860 probably benign Het
Aurka T A 2: 172,366,948 probably null Het
Cacna2d3 C T 14: 29,064,319 probably null Het
Cdh12 A G 15: 21,586,294 Y733C probably damaging Het
Cdon A T 9: 35,455,426 E199D probably benign Het
Celsr2 A T 3: 108,395,210 L558Q probably damaging Het
Clcnkb C A 4: 141,407,819 R536L probably benign Het
Cyp3a11 G A 5: 145,869,026 Q151* probably null Het
Dnah7a A T 1: 53,577,328 V1158E probably benign Het
Dnah8 G T 17: 30,721,110 E1677* probably null Het
Dock3 T C 9: 106,930,099 N1343S probably benign Het
Dock6 T A 9: 21,811,815 E1603D probably damaging Het
Fam91a1 C T 15: 58,443,231 T589M probably benign Het
Fat2 T A 11: 55,256,653 N3921I probably damaging Het
Gm10188 A G 1: 132,229,299 probably benign Het
Grid2ip A G 5: 143,391,108 E976G probably benign Het
Hapln3 G T 7: 79,121,773 Q123K probably benign Het
Hnrnpul1 G A 7: 25,750,904 P128S possibly damaging Het
Hsd3b1 T A 3: 98,852,929 I249F possibly damaging Het
Kbtbd3 A T 9: 4,331,444 H606L probably benign Het
Krt82 T C 15: 101,542,720 Y418C probably damaging Het
Mcm3ap C A 10: 76,477,767 A565E probably benign Het
Naip2 C T 13: 100,183,789 V240I probably benign Het
Naip2 A G 13: 100,160,997 S844P probably damaging Het
Notch2 T A 3: 98,102,432 C558* probably null Het
Npdc1 T A 2: 25,407,995 H185Q probably benign Het
Olfr1164 T C 2: 88,093,763 I58V possibly damaging Het
Olfr1183 T G 2: 88,461,726 Y148D probably damaging Het
Olfr447 A T 6: 42,911,517 probably benign Het
Osbpl3 A T 6: 50,346,332 I257N possibly damaging Het
Pkd1l2 T A 8: 117,013,891 T2156S probably damaging Het
Ppp1r13b A G 12: 111,831,454 probably benign Het
Ppp3ca C A 3: 136,797,812 H49N probably damaging Het
Prrc2c A T 1: 162,678,057 L1100I probably damaging Het
Ptpn21 A C 12: 98,689,632 probably benign Het
Ptpn7 A T 1: 135,143,168 M332L probably damaging Het
Ptprq T A 10: 107,667,424 Q791L probably benign Het
Ptprz1 G A 6: 23,035,149 R1966H probably damaging Het
Ralgapa1 T A 12: 55,717,069 Q1404L possibly damaging Het
Reln C A 5: 21,885,548 M3437I possibly damaging Het
Slc13a1 T C 6: 24,137,042 probably benign Het
Slc4a11 T C 2: 130,687,155 probably null Het
Slc9a2 A G 1: 40,763,602 E604G probably benign Het
Sod3 T G 5: 52,368,006 S16A possibly damaging Het
Taok3 A G 5: 117,263,613 I650V probably benign Het
Uggt2 T C 14: 119,081,799 I270M probably damaging Het
Ugt3a2 T A 15: 9,367,401 I410N probably damaging Het
Ush2a G A 1: 188,451,846 S1449N probably damaging Het
Usp29 A T 7: 6,961,634 M159L probably benign Het
Vmn1r122 A T 7: 21,133,724 F135L probably benign Het
Wdr11 T C 7: 129,631,166 probably benign Het
Zc3h14 T A 12: 98,758,943 probably null Het
Zfp955a A T 17: 33,242,452 C235* probably null Het
Other mutations in AF529169
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:AF529169 APN 9 89601800 missense probably benign 0.02
IGL00163:AF529169 APN 9 89591097 unclassified probably benign
IGL00336:AF529169 APN 9 89603143 missense probably damaging 1.00
IGL01608:AF529169 APN 9 89596498 missense probably benign 0.15
IGL01818:AF529169 APN 9 89601313 missense probably damaging 0.99
IGL02012:AF529169 APN 9 89601438 missense probably benign 0.01
IGL02259:AF529169 APN 9 89602359 missense possibly damaging 0.93
IGL03008:AF529169 APN 9 89596678 missense probably damaging 1.00
IGL02988:AF529169 UTSW 9 89602739 missense probably benign 0.02
R0410:AF529169 UTSW 9 89602203 missense probably damaging 0.97
R0825:AF529169 UTSW 9 89603279 nonsense probably null
R0883:AF529169 UTSW 9 89602417 missense probably benign 0.05
R0989:AF529169 UTSW 9 89602035 missense probably damaging 0.99
R1376:AF529169 UTSW 9 89591246 missense probably damaging 1.00
R1376:AF529169 UTSW 9 89591246 missense probably damaging 1.00
R1632:AF529169 UTSW 9 89602360 missense probably damaging 0.96
R1804:AF529169 UTSW 9 89603099 missense possibly damaging 0.91
R1974:AF529169 UTSW 9 89601203 missense probably damaging 1.00
R2151:AF529169 UTSW 9 89602168 missense possibly damaging 0.53
R2882:AF529169 UTSW 9 89602802 missense possibly damaging 0.86
R2909:AF529169 UTSW 9 89591278 missense probably damaging 1.00
R3961:AF529169 UTSW 9 89601910 missense probably damaging 1.00
R3962:AF529169 UTSW 9 89601910 missense probably damaging 1.00
R3963:AF529169 UTSW 9 89601910 missense probably damaging 1.00
R4676:AF529169 UTSW 9 89601553 missense probably damaging 1.00
R4778:AF529169 UTSW 9 89603102 missense probably damaging 1.00
R4931:AF529169 UTSW 9 89601652 missense probably benign 0.05
R5300:AF529169 UTSW 9 89603199 missense probably damaging 1.00
R5702:AF529169 UTSW 9 89591155 missense probably benign 0.22
R5759:AF529169 UTSW 9 89601072 missense probably benign 0.01
R6187:AF529169 UTSW 9 89591167 missense probably damaging 1.00
R7320:AF529169 UTSW 9 89601626 missense probably benign
R7542:AF529169 UTSW 9 89601911 missense probably damaging 1.00
R7552:AF529169 UTSW 9 89601835 missense probably benign 0.00
U24488:AF529169 UTSW 9 89603047 missense probably damaging 1.00
Posted On2015-12-18