Incidental Mutation 'IGL00586:Dnai7'
ID 5346
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 # IGL00586
Quality Score
Status
Chromosome 6
Chromosomal Location 145120560-145156731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145137302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 269 (F269I)
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 benign
Transcript: ENSMUST00000060797
AA Change: F269I

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: F269I

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: F256I

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: F256I

DomainStartEndE-ValueType
coiled coil region 1 45 N/A INTRINSIC
Pfam:Casc1 228 456 6.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152138
Predicted Effect possibly damaging
Transcript: ENSMUST00000204105
AA Change: F269I

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: F269I

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,074,746 (GRCm39) S76P probably benign Het
Asap3 A C 4: 135,933,879 (GRCm39) D17A probably damaging Het
Ccdc24 C T 4: 117,729,243 (GRCm39) R78H probably damaging Het
Crp T C 1: 172,526,568 (GRCm39) F218L probably benign Het
Dab2 T C 15: 6,459,306 (GRCm39) L385P probably benign Het
Dip2c C A 13: 9,660,791 (GRCm39) T855N probably damaging Het
Dync2i1 A T 12: 116,205,400 (GRCm39) D396E probably benign Het
Ep400 A G 5: 110,887,460 (GRCm39) V541A probably damaging Het
Gbgt1 A T 2: 28,392,207 (GRCm39) probably null Het
Gm6871 A T 7: 41,195,845 (GRCm39) D297E possibly damaging Het
Gpr107 T A 2: 31,062,006 (GRCm39) F145I probably benign Het
Itgb6 T G 2: 60,450,696 (GRCm39) D581A probably benign Het
Lce1a1 C T 3: 92,554,470 (GRCm39) M1I probably null Het
Lmbrd2 G A 15: 9,157,382 (GRCm39) V207M probably damaging Het
Muc5b T A 7: 141,395,129 (GRCm39) V45E unknown Het
Mybpc2 A G 7: 44,154,806 (GRCm39) V977A probably damaging Het
Oas1c T C 5: 120,946,744 (GRCm39) T29A probably benign Het
Pdzd2 G T 15: 12,365,853 (GRCm39) probably null Het
Plk2 T C 13: 110,532,912 (GRCm39) Y158H possibly damaging Het
Prss1l T C 6: 41,373,049 (GRCm39) I107T probably damaging Het
Ptprq A G 10: 107,443,983 (GRCm39) probably benign Het
Rnf17 C T 14: 56,658,539 (GRCm39) T76I probably damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Sidt2 A G 9: 45,854,350 (GRCm39) V624A possibly damaging Het
Sin3b T C 8: 73,483,628 (GRCm39) V1005A probably benign Het
Ubr4 T C 4: 139,182,495 (GRCm39) V358A possibly damaging Het
Zfp120 T C 2: 149,961,748 (GRCm39) I67V possibly damaging Het
Zfp942 A T 17: 22,147,605 (GRCm39) H341Q probably damaging Het
Other mutations in Dnai7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Dnai7 APN 6 145,121,016 (GRCm39) missense probably benign 0.00
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 2012-04-20