Incidental Mutation 'R9118:Dnai7'
ID 692639
Institutional Source Beutler Lab
Gene Symbol Dnai7
Ensembl Gene ENSMUSG00000043541
Gene Name dynein axonemal intermediate chain 7
Synonyms Las1, A230084G12Rik, Casc1
MMRRC Submission 068921-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R9118 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 145120560-145156731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145120971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 667 (L667P)
Ref Sequence ENSEMBL: ENSMUSP00000062279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000060797] [ENSMUST00000111728] [ENSMUST00000135984] [ENSMUST00000204105]
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 damaging
Transcript: ENSMUST00000060797
AA Change: L667P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: L667P

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 probably damaging
Transcript: ENSMUST00000111728
AA Change: L616P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: L616P

DomainStartEndE-ValueType
coiled coil region 1 45 N/A INTRINSIC
Pfam:Casc1 228 456 6.1e-15 PFAM
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: ENSMUST00000135984
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (31/32)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A T 9: 118,985,957 (GRCm39) S36T probably benign Het
Aifm2 C T 10: 61,561,681 (GRCm39) T9I probably benign Het
Ano5 T A 7: 51,220,122 (GRCm39) F421I probably damaging Het
Cacna1a G A 8: 85,262,715 (GRCm39) V372M probably damaging Het
Col6a5 A T 9: 105,755,853 (GRCm39) probably benign Het
Colgalt2 A G 1: 152,378,906 (GRCm39) probably benign Het
Crybg1 T C 10: 43,879,925 (GRCm39) D421G possibly damaging Het
Dgat1 A T 15: 76,386,718 (GRCm39) W440R probably damaging Het
Dnah5 TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC TGTC 15: 28,401,994 (GRCm39) probably null Het
Eif4h C A 5: 134,656,481 (GRCm39) V70L probably benign Het
Gabrd C A 4: 155,470,475 (GRCm39) V326L possibly damaging Het
Krt1c C T 15: 101,722,976 (GRCm39) E341K probably damaging Het
Lrp4 C T 2: 91,308,927 (GRCm39) A538V possibly damaging Het
Mfap3l G A 8: 61,109,716 (GRCm39) V31M probably damaging Het
Mroh2b T C 15: 4,991,573 (GRCm39) I1557T possibly damaging Het
Or2y16 A T 11: 49,335,409 (GRCm39) I244F probably benign Het
Or5an11 T C 19: 12,246,263 (GRCm39) V223A probably benign Het
Pcyt2 G A 11: 120,503,899 (GRCm39) P183L Het
Rapsn A G 2: 90,875,378 (GRCm39) H387R probably damaging Het
Scaf11 G A 15: 96,319,886 (GRCm39) A259V probably benign Het
Septin9 A G 11: 117,157,398 (GRCm39) D11G probably benign Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Slc7a2 T A 8: 41,351,994 (GRCm39) I19N possibly damaging Het
Synpr T C 14: 13,608,673 (GRCm38) V171A probably damaging Het
Tmed7 T C 18: 46,726,338 (GRCm39) N139S probably benign Het
Tnks1bp1 G T 2: 84,893,720 (GRCm39) G1216W probably damaging Het
Ush2a T A 1: 188,386,839 (GRCm39) V2338E probably damaging Het
Vmn1r152 A T 7: 22,222,992 (GRCm39) I201F Het
Vmn2r106 C A 17: 20,505,667 (GRCm39) W9L probably benign Het
Vmn2r9 A G 5: 108,990,937 (GRCm39) V808A probably damaging Het
Zfp646 A G 7: 127,480,810 (GRCm39) T996A Het
Zng1 T C 19: 24,920,048 (GRCm39) R190G probably damaging 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
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 6 145,120,900 (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
Predicted Primers PCR Primer
(F):5'- TACACACGCTGTAAGGGCTAG -3'
(R):5'- GAGAGACTTATCTGCAAGCTGGG -3'

Sequencing Primer
(F):5'- CGCTGTAAGGGCTAGGAATAGC -3'
(R):5'- ACTTATCTGCAAGCTGGGTAATTTG -3'
Posted On 2021-12-30