Incidental Mutation 'IGL00160:Dnai7'
ID 1543
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 # IGL00160
Quality Score
Status
Chromosome 6
Chromosomal Location 145120560-145156731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145121016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 601 (H601L)
Ref Sequence ENSEMBL: ENSMUSP00000107357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000060797] [ENSMUST00000111728] [ENSMUST00000204105] [ENSMUST00000135984]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032396
SMART Domains Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263

DomainStartEndE-ValueType
Pfam:MRVI1 10 539 3.2e-265 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060797
AA Change: H652L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: H652L

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 benign
Transcript: ENSMUST00000111728
AA Change: H601L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: H601L

DomainStartEndE-ValueType
coiled coil region 1 45 N/A INTRINSIC
Pfam:Casc1 228 456 6.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132937
Predicted Effect probably benign
Transcript: ENSMUST00000132948
SMART Domains Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263

DomainStartEndE-ValueType
Pfam:MRVI1 8 504 3.7e-248 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204105
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135191
Predicted Effect probably benign
Transcript: ENSMUST00000135984
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,563,219 (GRCm39) A387V probably benign Het
Adamts3 C T 5: 90,009,184 (GRCm39) V160I probably damaging Het
Arhgef26 T C 3: 62,247,804 (GRCm39) V296A probably benign Het
Bdp1 A T 13: 100,197,706 (GRCm39) M893K probably benign Het
Camk2d T A 3: 126,631,921 (GRCm39) C407* probably null Het
Ces1h T C 8: 94,084,091 (GRCm39) D373G probably benign Het
Ces2f A T 8: 105,676,605 (GRCm39) N100Y probably damaging Het
Ces2f A T 8: 105,676,604 (GRCm39) Q99H probably damaging Het
Dlg5 T C 14: 24,241,229 (GRCm39) T223A probably damaging Het
Dnmt3l A G 10: 77,893,189 (GRCm39) D322G probably damaging Het
Fam243 T C 16: 92,117,890 (GRCm39) K133E possibly damaging Het
Fbxl20 C T 11: 97,981,500 (GRCm39) G396D possibly damaging Het
Garre1 G A 7: 33,938,431 (GRCm39) H1035Y possibly damaging Het
Gldc T C 19: 30,092,640 (GRCm39) T760A probably damaging Het
Gm6483 T A 8: 19,741,663 (GRCm39) noncoding transcript Het
Hcrtr2 A T 9: 76,135,437 (GRCm39) V460D possibly damaging Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mrgpra2a A T 7: 47,076,286 (GRCm39) M324K probably damaging Het
N4bp3 C T 11: 51,536,143 (GRCm39) A230T probably benign Het
Nphs1 T G 7: 30,181,976 (GRCm39) W1204G possibly damaging Het
Obscn C A 11: 58,892,883 (GRCm39) A6788S probably benign Het
Ofcc1 T C 13: 40,296,280 (GRCm39) D518G probably damaging Het
Optc T C 1: 133,829,846 (GRCm39) Y188C probably damaging Het
Prss45 C A 9: 110,670,073 (GRCm39) A285E probably damaging Het
Rcan2 C T 17: 44,347,960 (GRCm39) T223I possibly damaging Het
Snrnp70 A G 7: 45,026,778 (GRCm39) probably null Het
Sorbs1 T A 19: 40,306,473 (GRCm39) T1064S probably damaging Het
Sptb T C 12: 76,669,943 (GRCm39) K462E probably damaging Het
Sstr1 A G 12: 58,259,536 (GRCm39) E53G probably benign Het
Stxbp2 A T 8: 3,686,354 (GRCm39) probably null Het
Tex35 G A 1: 156,927,326 (GRCm39) probably benign Het
Thnsl1 T C 2: 21,217,260 (GRCm39) F338S possibly damaging Het
Trpv1 C T 11: 73,151,188 (GRCm39) A424V probably damaging Het
Unc80 A T 1: 66,693,554 (GRCm39) H2535L possibly damaging Het
Usp46 T C 5: 74,163,347 (GRCm39) E333G probably null Het
Vmn1r27 T C 6: 58,192,119 (GRCm39) Y245C probably benign Het
Zfp488 T C 14: 33,693,026 (GRCm39) M46V probably benign Het
Zfp566 G T 7: 29,777,936 (GRCm39) Q82K probably benign Het
Znhit6 T C 3: 145,283,915 (GRCm39) S62P probably damaging Het
Znrf3 T C 11: 5,239,039 (GRCm39) H108R probably damaging Het
Other mutations in Dnai7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03018:Dnai7 APN 6 145,129,031 (GRCm39) missense probably damaging 1.00
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 2011-07-12