Incidental Mutation 'IGL03018:Dnai7'
ID 407972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnai7
Ensembl Gene ENSMUSG00000043541
Gene Name dynein axonemal intermediate chain 7
Synonyms Las1, A230084G12Rik, Casc1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03018
Quality Score
Status
Chromosome 6
Chromosomal Location 145120560-145156731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145129031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 394 (F394S)
Ref Sequence ENSEMBL: ENSMUSP00000144783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060797] [ENSMUST00000111728] [ENSMUST00000204105]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000060797
AA Change: F394S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: F394S

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 5.5e-61 PFAM
Pfam:Casc1 241 469 3.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111727
Predicted Effect probably damaging
Transcript: ENSMUST00000111728
AA Change: F381S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: F381S

DomainStartEndE-ValueType
coiled coil region 1 45 N/A INTRINSIC
Pfam:Casc1 228 456 6.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141307
Predicted Effect probably damaging
Transcript: ENSMUST00000204105
AA Change: F394S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: F394S

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 3.4e-57 PFAM
Pfam:Casc1 241 469 2.3e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice with disruptions of this gene display a higher incidence of lung tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,752,451 (GRCm39) V474E probably damaging Het
Cpsf6 A T 10: 117,203,861 (GRCm39) D30E probably benign Het
Edem1 T C 6: 108,806,103 (GRCm39) F135L probably damaging Het
Elf3 C T 1: 135,183,803 (GRCm39) E239K possibly damaging Het
Farp1 C T 14: 121,339,581 (GRCm39) A53V probably benign Het
Gli3 T A 13: 15,834,717 (GRCm39) L400Q probably damaging Het
Gtf2i T A 5: 134,318,189 (GRCm39) I109F possibly damaging Het
Lat2 A T 5: 134,631,445 (GRCm39) I191N probably damaging Het
Mtf1 G A 4: 124,732,456 (GRCm39) A505T probably benign Het
Naa30 G T 14: 49,410,697 (GRCm39) E208D probably benign Het
Nlrp5 T C 7: 23,117,172 (GRCm39) Y299H probably benign Het
Npc1 T A 18: 12,347,436 (GRCm39) N195Y probably damaging Het
Or2f1 A G 6: 42,721,748 (GRCm39) Y259C probably damaging Het
Or4p21 T C 2: 88,277,163 (GRCm39) N40D probably damaging Het
Or5t16 T G 2: 86,819,349 (GRCm39) Y57S probably damaging Het
Or7g18 T C 9: 18,787,523 (GRCm39) M300T probably benign Het
Or7g19 A T 9: 18,856,177 (GRCm39) I78F probably damaging Het
Pate12 A G 9: 36,344,723 (GRCm39) T84A possibly damaging Het
Pcdh9 G A 14: 93,253,012 (GRCm39) A1217V probably null Het
Pdhb C T 14: 8,171,537 (GRCm38) probably benign Het
Pknox2 A G 9: 36,865,993 (GRCm39) Y75H probably damaging Het
Ptprn2 T C 12: 117,175,563 (GRCm39) S748P probably damaging Het
Ranbp6 A G 19: 29,788,789 (GRCm39) V521A probably damaging Het
Samd7 A G 3: 30,816,294 (GRCm39) K347E probably damaging Het
Selenom A G 11: 3,466,508 (GRCm39) D63G probably damaging Het
Sema6d T C 2: 124,501,520 (GRCm39) V487A possibly damaging Het
Tapt1 A T 5: 44,361,666 (GRCm39) M109K probably damaging Het
Trib1 T C 15: 59,526,333 (GRCm39) F301S probably damaging Het
Tspyl1 T C 10: 34,159,112 (GRCm39) V279A probably damaging Het
Ubr2 C T 17: 47,264,972 (GRCm39) V1184I possibly damaging Het
Urb1 T C 16: 90,585,044 (GRCm39) I526V probably benign Het
Vtcn1 A G 3: 100,791,226 (GRCm39) D88G probably damaging Het
Yod1 T G 1: 130,646,695 (GRCm39) L191V probably benign Het
Other mutations in Dnai7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Dnai7 APN 6 145,121,016 (GRCm39) missense probably benign 0.00
IGL00586:Dnai7 APN 6 145,137,302 (GRCm39) missense possibly damaging 0.53
IGL01066:Dnai7 APN 6 145,121,948 (GRCm39) missense probably damaging 0.96
IGL01413:Dnai7 APN 6 145,120,812 (GRCm39) missense probably damaging 1.00
IGL02275:Dnai7 APN 6 145,123,090 (GRCm39) missense probably damaging 1.00
IGL02668:Dnai7 APN 6 145,150,983 (GRCm39) missense unknown
IGL03233:Dnai7 APN 6 145,127,611 (GRCm39) missense probably damaging 1.00
R0011:Dnai7 UTSW 6 145,124,781 (GRCm39) missense probably damaging 1.00
R0011:Dnai7 UTSW 6 145,124,781 (GRCm39) missense probably damaging 1.00
R0180:Dnai7 UTSW 6 145,128,944 (GRCm39) critical splice donor site probably benign
R0786:Dnai7 UTSW 6 145,127,483 (GRCm39) critical splice donor site probably null
R1916:Dnai7 UTSW 6 145,121,926 (GRCm39) missense probably benign 0.37
R2117:Dnai7 UTSW 6 145,150,967 (GRCm39) critical splice donor site probably null
R2174:Dnai7 UTSW 6 145,120,896 (GRCm39) missense probably damaging 1.00
R2264:Dnai7 UTSW 6 145,154,155 (GRCm39) utr 5 prime probably benign
R4393:Dnai7 UTSW 6 145,140,304 (GRCm39) missense possibly damaging 0.49
R4467:Dnai7 UTSW 6 145,128,944 (GRCm39) critical splice donor site probably null
R4847:Dnai7 UTSW 6 145,120,911 (GRCm39) missense probably damaging 1.00
R5014:Dnai7 UTSW 6 145,128,992 (GRCm39) missense probably damaging 1.00
R5207:Dnai7 UTSW 6 145,124,794 (GRCm39) missense probably damaging 1.00
R5264:Dnai7 UTSW 6 145,127,502 (GRCm39) missense probably benign 0.02
R5359:Dnai7 UTSW 6 145,142,618 (GRCm39) missense probably damaging 1.00
R5499:Dnai7 UTSW 6 145,123,157 (GRCm39) missense probably damaging 1.00
R6211:Dnai7 UTSW 6 145,146,217 (GRCm39) missense probably damaging 1.00
R6579:Dnai7 UTSW 6 145,124,744 (GRCm39) missense probably benign 0.19
R6939:Dnai7 UTSW 6 145,120,945 (GRCm39) missense possibly damaging 0.46
R7108:Dnai7 UTSW 6 145,131,591 (GRCm39) nonsense probably null
R7131:Dnai7 UTSW 6 145,123,132 (GRCm39) missense probably null 0.97
R7810:Dnai7 UTSW 6 145,140,312 (GRCm39) missense probably benign 0.28
R8017:Dnai7 UTSW 6 145,140,283 (GRCm39) missense probably damaging 1.00
R8385:Dnai7 UTSW 6 145,120,918 (GRCm39) missense probably damaging 1.00
R8680:Dnai7 UTSW 6 145,127,542 (GRCm39) missense probably benign 0.13
R8720:Dnai7 UTSW 6 145,150,983 (GRCm39) missense unknown
R9118:Dnai7 UTSW 6 145,120,971 (GRCm39) missense probably damaging 1.00
R9118:Dnai7 UTSW 6 145,120,900 (GRCm39) missense probably damaging 1.00
R9172:Dnai7 UTSW 6 145,123,175 (GRCm39) missense probably benign
R9290:Dnai7 UTSW 6 145,148,688 (GRCm39) missense unknown
X0063:Dnai7 UTSW 6 145,120,997 (GRCm39) missense probably benign 0.13
Z1176:Dnai7 UTSW 6 145,151,019 (GRCm39) nonsense probably null
Posted On 2016-08-02