Incidental Mutation 'IGL01066:Dnai7'
ID 51243
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 # IGL01066
Quality Score
Status
Chromosome 6
Chromosomal Location 145120560-145156731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 145121948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 624 (G624S)
Ref Sequence ENSEMBL: ENSMUSP00000144783 (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 possibly damaging
Transcript: ENSMUST00000060797
AA Change: G624S

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: G624S

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
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541

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 damaging
Transcript: ENSMUST00000204105
AA Change: G624S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: G624S

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
2300003K06Rik T A 11: 99,728,454 (GRCm39) R130* probably null Het
Abca12 T A 1: 71,392,889 (GRCm39) R117W possibly damaging Het
Agrn A G 4: 156,261,800 (GRCm39) S497P probably benign Het
Alpk1 A T 3: 127,473,874 (GRCm39) S710T probably benign Het
Anapc4 T A 5: 53,014,551 (GRCm39) N471K probably benign Het
Ano3 A T 2: 110,491,790 (GRCm39) M879K probably null Het
Apoe A G 7: 19,430,525 (GRCm39) L239P probably damaging Het
Ash1l T C 3: 88,891,942 (GRCm39) Y1274H probably damaging Het
B3glct C T 5: 149,632,890 (GRCm39) T80I possibly damaging Het
Ccdc146 T C 5: 21,524,540 (GRCm39) T271A probably benign Het
Chd8 T A 14: 52,455,223 (GRCm39) N1088I probably damaging Het
Csnk1g2 T C 10: 80,470,481 (GRCm39) probably benign Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dpy19l3 A G 7: 35,392,192 (GRCm39) probably benign Het
Enc1 A G 13: 97,381,822 (GRCm39) I111V probably benign Het
Ep400 A G 5: 110,816,065 (GRCm39) probably benign Het
Fig4 T C 10: 41,161,413 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,503,252 (GRCm39) L36* probably null Het
Fxn A T 19: 24,244,662 (GRCm39) probably benign Het
Gm10152 C T 7: 144,316,993 (GRCm39) P16L unknown Het
Hivep2 T C 10: 14,024,768 (GRCm39) V2194A possibly damaging Het
Hook3 T G 8: 26,538,326 (GRCm39) E525A probably damaging Het
Icam1 A G 9: 20,927,401 (GRCm39) probably null Het
Ifngr1 C T 10: 19,484,946 (GRCm39) T315I probably damaging Het
Igsf10 A G 3: 59,235,203 (GRCm39) probably null Het
Irag2 T C 6: 145,106,681 (GRCm39) S222P probably damaging Het
Krt87 A G 15: 101,336,266 (GRCm39) probably null Het
Lama1 T A 17: 68,050,321 (GRCm39) C311S probably damaging Het
Lig3 T A 11: 82,688,141 (GRCm39) M714K possibly damaging Het
Lypd5 C T 7: 24,052,910 (GRCm39) T189I probably benign Het
Mapk8ip3 C T 17: 25,120,692 (GRCm39) G807D probably benign Het
Met T C 6: 17,535,104 (GRCm39) probably null Het
Nlrp4g C A 9: 124,349,526 (GRCm38) noncoding transcript Het
Nlrp6 T A 7: 140,501,709 (GRCm39) V62D possibly damaging Het
Nme7 A G 1: 164,172,999 (GRCm39) probably null Het
Or2y1f T C 11: 49,184,457 (GRCm39) I103T possibly damaging Het
Or5m9 A G 2: 85,877,602 (GRCm39) R259G probably damaging Het
Or5p79 T C 7: 108,221,064 (GRCm39) F15S probably damaging Het
Pcnx1 G A 12: 82,038,795 (GRCm39) R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,718 (GRCm39) probably benign Het
Pi4ka A G 16: 17,166,637 (GRCm39) probably benign Het
Pkdrej T G 15: 85,700,360 (GRCm39) I1859L probably benign Het
Plcg1 A T 2: 160,596,318 (GRCm39) H638L probably damaging Het
Polr1b C T 2: 128,961,072 (GRCm39) S677L probably damaging Het
Ppef2 A G 5: 92,382,096 (GRCm39) L533P probably damaging Het
Sh3rf1 T A 8: 61,782,370 (GRCm39) W171R probably damaging Het
Son T C 16: 91,457,024 (GRCm39) probably benign Het
Sycp1 A G 3: 102,827,950 (GRCm39) S266P probably damaging Het
Tedc1 A G 12: 113,126,770 (GRCm39) E344G probably damaging Het
Tkfc T C 19: 10,571,892 (GRCm39) I381M probably benign Het
Tmprss6 T C 15: 78,326,634 (GRCm39) D1G probably null Het
Ttn T C 2: 76,582,770 (GRCm39) T22708A probably damaging Het
Ubtf T C 11: 102,199,710 (GRCm39) probably benign Het
Vps35l T A 7: 118,372,234 (GRCm39) probably null Het
Vwc2l T C 1: 70,768,070 (GRCm39) F45L probably damaging Het
Xpo7 T C 14: 70,939,195 (GRCm39) T154A probably benign Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null 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
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 2013-06-21