Incidental Mutation 'R5014:Dnai7'
ID 385429
Institutional Source Beutler Lab
Gene Symbol Dnai7
Ensembl Gene ENSMUSG00000043541
Gene Name dynein axonemal intermediate chain 7
Synonyms Las1, A230084G12Rik, Casc1
MMRRC Submission 042605-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5014 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 145120560-145156731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145128992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 407 (E407G)
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: E407G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: E407G

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: E394G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: E394G

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: E407G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: E407G

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
Meta Mutation Damage Score 0.3089 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.7%
Validation Efficiency 97% (83/86)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,896 (GRCm39) T1353A probably benign Het
Abca8b A T 11: 109,840,957 (GRCm39) I1072N probably damaging Het
Atp1a2 T C 1: 172,112,438 (GRCm39) T517A probably benign Het
Blk T G 14: 63,617,236 (GRCm39) N257T probably benign Het
Brd4 A T 17: 32,417,372 (GRCm39) probably benign Het
Calr4 C T 4: 109,092,994 (GRCm39) Q25* probably null Het
Cbl T C 9: 44,065,696 (GRCm39) probably null Het
Ccdc30 T G 4: 119,250,824 (GRCm39) H6P possibly damaging Het
Cd101 A C 3: 100,911,139 (GRCm39) Y840D probably damaging Het
Cd68 T A 11: 69,556,165 (GRCm39) N178Y probably damaging Het
Cep350 T C 1: 155,803,952 (GRCm39) T1044A probably benign Het
Cfap46 A G 7: 139,207,291 (GRCm39) V1876A probably benign Het
Clec2g T A 6: 128,925,765 (GRCm39) M58K probably benign Het
Clip1 T C 5: 123,755,793 (GRCm39) E860G probably damaging Het
Col18a1 C T 10: 76,906,794 (GRCm39) probably null Het
Cul7 A G 17: 46,966,868 (GRCm39) *650W probably null Het
Dkk4 C T 8: 23,115,315 (GRCm39) A55V probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnase1 C A 16: 3,856,880 (GRCm39) Y170* probably null Het
Dnmt1 A C 9: 20,823,550 (GRCm39) I1019S probably benign Het
Epha6 T A 16: 59,486,942 (GRCm39) H1035L probably benign Het
Fam124b T C 1: 80,177,776 (GRCm39) T408A probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Galnt7 T C 8: 57,998,414 (GRCm39) E305G probably damaging Het
Garin1b C T 6: 29,326,723 (GRCm39) probably benign Het
Git1 T A 11: 77,389,821 (GRCm39) V28E probably damaging Het
Gm10010 C T 6: 128,177,556 (GRCm39) noncoding transcript Het
Gm4956 T C 1: 21,363,821 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,193,506 (GRCm39) V349G probably benign Het
Gtsf1l C T 2: 162,929,112 (GRCm39) V124I probably damaging Het
Gucy1b1 C G 3: 81,953,974 (GRCm39) G114A probably benign Het
Hk2 T C 6: 82,720,936 (GRCm39) Q166R possibly damaging Het
Hook2 A G 8: 85,718,006 (GRCm39) I44M probably damaging Het
Ildr1 T A 16: 36,541,921 (GRCm39) M222K probably damaging Het
Ints6 A T 14: 62,997,640 (GRCm39) F55Y probably benign Het
Kcnh1 A G 1: 191,959,388 (GRCm39) N314S probably damaging Het
Lpin3 T C 2: 160,746,748 (GRCm39) F748L probably damaging Het
Lrsam1 T C 2: 32,826,407 (GRCm39) probably benign Het
Msh2 A T 17: 88,025,004 (GRCm39) K627N possibly damaging Het
Myrip A G 9: 120,251,534 (GRCm39) Q219R probably damaging Het
Ndufb3 T A 1: 58,630,401 (GRCm39) W51R probably damaging Het
Nfasc A T 1: 132,512,185 (GRCm39) probably benign Het
Or2c1 T A 16: 3,656,912 (GRCm39) I25N probably benign Het
Or2h2 T A 17: 37,396,446 (GRCm39) I204F probably benign Het
Or8s8 T C 15: 98,354,857 (GRCm39) V222A possibly damaging Het
P3h3 T A 6: 124,832,199 (GRCm39) E229V probably damaging Het
Ppfia2 T A 10: 106,701,224 (GRCm39) L837* probably null Het
Ppp2r1a G A 17: 21,179,101 (GRCm39) probably null Het
Rabgap1 T A 2: 37,377,152 (GRCm39) V328E probably damaging Het
Ralgapb G A 2: 158,337,455 (GRCm39) R1138Q probably damaging Het
Ranbp2 A T 10: 58,299,942 (GRCm39) Q498L probably benign Het
Rbx1 T A 15: 81,355,161 (GRCm39) C56S probably damaging Het
Rcan2 T C 17: 44,328,704 (GRCm39) F45S probably damaging Het
Rgs20 T C 1: 4,980,770 (GRCm39) Y185C probably damaging Het
Rorc T G 3: 94,298,460 (GRCm39) L315R probably damaging Het
Skic2 A G 17: 35,066,401 (GRCm39) V194A probably benign Het
Slc13a2 T C 11: 78,290,987 (GRCm39) K406E possibly damaging Het
Slc35g3 T A 11: 69,651,866 (GRCm39) K62* probably null Het
Sox30 T C 11: 45,882,736 (GRCm39) S589P probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Ssh2 T A 11: 77,346,102 (GRCm39) C1362* probably null Het
Tecta C T 9: 42,284,538 (GRCm39) C849Y probably damaging Het
Thbs1 T A 2: 117,950,518 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tut4 T C 4: 108,384,043 (GRCm39) probably benign Het
Tyk2 C T 9: 21,027,126 (GRCm39) probably null Het
Tyw5 C A 1: 57,446,004 (GRCm39) probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Wdfy4 A T 14: 32,822,897 (GRCm39) C1401S probably benign Het
Wiz T C 17: 32,578,340 (GRCm39) N391D probably damaging Het
Ylpm1 G A 12: 85,061,523 (GRCm39) E475K unknown Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp184 A G 13: 22,142,594 (GRCm39) D100G probably benign Het
Zfp990 T A 4: 145,264,669 (GRCm39) C556S possibly damaging Het
Zkscan16 C T 4: 58,951,892 (GRCm39) P189L 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
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
Predicted Primers PCR Primer
(F):5'- TGGCTGTATCAAGGGCTGAC -3'
(R):5'- TATCCTTCTTGACCGCAACAATG -3'

Sequencing Primer
(F):5'- CTGTATCAAGGGCTGACTGACAC -3'
(R):5'- CTTCTTGACCGCAACAATGTTATG -3'
Posted On 2016-05-10