Incidental Mutation 'IGL02012:AF529169'
ID183383
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? Possibly non essential (E-score: 0.270) question?
Stock #IGL02012
Quality Score
Status
Chromosome9
Chromosomal Location89587216-89623125 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89601438 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 635 (I635M)
Ref Sequence ENSEMBL: ENSMUSP00000046111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044491] [ENSMUST00000191465]
Predicted Effect probably benign
Transcript: ENSMUST00000044491
AA Change: I635M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000046111
Gene: ENSMUSG00000039313
AA Change: I635M

DomainStartEndE-ValueType
low complexity region 508 522 N/A INTRINSIC
Pfam:UPF0258 760 915 8.7e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191465
AA Change: I635M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140942
Gene: ENSMUSG00000039313
AA Change: I635M

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,674,861 N1296S probably damaging Het
Adprh A T 16: 38,445,852 D309E possibly damaging Het
Armc1 A T 3: 19,157,537 C40S possibly damaging Het
BC100530 T G 16: 36,367,440 D21A possibly damaging Het
Cops8 T C 1: 90,612,234 V204A probably damaging Het
Dchs1 T G 7: 105,764,297 T1104P probably damaging Het
Ddi2 A T 4: 141,708,218 probably null Het
Ehbp1 G A 11: 22,101,218 P420S probably damaging Het
Eif1ad T G 19: 5,368,659 V80G probably damaging Het
Fat1 T C 8: 45,027,540 Y3004H possibly damaging Het
Fbxo11 C T 17: 88,012,651 R211Q probably benign Het
Foxf2 A G 13: 31,626,516 N146S probably damaging Het
Fsd2 A T 7: 81,549,914 N334K probably benign Het
Gm45234 C A 6: 124,746,048 probably benign Het
Itpr3 T A 17: 27,104,095 F1157I probably benign Het
Jph1 C A 1: 17,097,414 W64L probably benign Het
Lmo7 T C 14: 101,888,716 probably benign Het
Man2a1 T C 17: 64,666,899 I390T probably damaging Het
Marveld3 C T 8: 109,948,132 V351M probably damaging Het
Mycn A G 12: 12,937,103 L431P probably damaging Het
Naip5 T C 13: 100,223,339 N463S probably benign Het
Npnt A G 3: 132,908,397 C182R probably damaging Het
Obscn A G 11: 59,076,507 V3068A probably benign Het
Pggt1b A T 18: 46,262,955 S88T probably benign Het
Prx A G 7: 27,517,901 E748G probably damaging Het
Scrn3 T C 2: 73,318,429 probably null Het
Trmt10b G A 4: 45,315,045 R292H probably benign Het
Tuft1 A G 3: 94,622,155 probably benign Het
Wfdc8 T C 2: 164,603,150 probably benign 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
IGL02259:AF529169 APN 9 89602359 missense possibly damaging 0.93
IGL02894:AF529169 APN 9 89603102 missense probably damaging 0.99
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
U24488:AF529169 UTSW 9 89603047 missense probably damaging 1.00
Posted On2014-05-07