Incidental Mutation 'R2264:Dnai7'
ID 243994
Institutional Source Beutler Lab
Gene Symbol Dnai7
Ensembl Gene ENSMUSG00000043541
Gene Name dynein axonemal intermediate chain 7
Synonyms Las1, A230084G12Rik, Casc1
MMRRC Submission 040264-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R2264 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 145120560-145156731 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 145154155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039729] [ENSMUST00000060797] [ENSMUST00000111719] [ENSMUST00000111721] [ENSMUST00000111723] [ENSMUST00000111724] [ENSMUST00000204105] [ENSMUST00000111725] [ENSMUST00000111728] [ENSMUST00000111726]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039729
SMART Domains Protein: ENSMUSP00000039433
Gene: ENSMUSG00000040370

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000060797
AA Change: S5P
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: S5P

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 benign
Transcript: ENSMUST00000111719
SMART Domains Protein: ENSMUSP00000107348
Gene: ENSMUSG00000040370

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111721
SMART Domains Protein: ENSMUSP00000107350
Gene: ENSMUSG00000040370

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 5.5e-15 PFAM
Pfam:Complex1_LYR_1 7 67 5.5e-15 PFAM
Pfam:Complex1_LYR_2 9 85 9.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111723
SMART Domains Protein: ENSMUSP00000107352
Gene: ENSMUSG00000040370

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111724
SMART Domains Protein: ENSMUSP00000107353
Gene: ENSMUSG00000040370

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152138
Predicted Effect unknown
Transcript: ENSMUST00000204105
AA Change: S5P
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: S5P

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: ENSMUST00000203558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111727
Predicted Effect probably benign
Transcript: ENSMUST00000111725
SMART Domains Protein: ENSMUSP00000107354
Gene: ENSMUSG00000040370

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
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 probably benign
Transcript: ENSMUST00000111726
SMART Domains Protein: ENSMUSP00000107355
Gene: ENSMUSG00000040370

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 94% (65/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,100 (GRCm39) S1042P probably damaging Het
Armc1 C T 3: 19,189,033 (GRCm39) V211I probably damaging Het
B4galnt3 T C 6: 120,180,771 (GRCm39) *986W probably null Het
BC024139 T A 15: 76,010,117 (GRCm39) D105V probably damaging Het
BC049715 C T 6: 136,817,434 (GRCm39) Q225* probably null Het
Cadps2 T C 6: 23,323,339 (GRCm39) H1043R probably benign Het
Ccdc42 T C 11: 68,478,477 (GRCm39) V33A probably benign Het
Cldn1 A G 16: 26,177,949 (GRCm39) Y159H probably damaging Het
Cog6 A T 3: 52,900,332 (GRCm39) C476* probably null Het
Col14a1 T G 15: 55,330,086 (GRCm39) probably null Het
Crisp1 C T 17: 40,623,965 (GRCm39) M1I probably null Het
Dip2b T A 15: 100,101,097 (GRCm39) S1297T probably benign Het
Dlgap4 A G 2: 156,543,383 (GRCm39) E262G probably benign Het
Dpp4 A C 2: 62,208,583 (GRCm39) V187G possibly damaging Het
F5 A G 1: 164,021,971 (GRCm39) D1482G probably benign Het
Fads6 T A 11: 115,177,061 (GRCm39) T132S probably damaging Het
Fat4 A G 3: 38,944,571 (GRCm39) I1155V probably benign Het
Fermt1 C T 2: 132,757,110 (GRCm39) probably null Het
Fstl1 C T 16: 37,597,653 (GRCm39) probably benign Het
Get3 G A 8: 85,751,887 (GRCm39) probably benign Het
Gm5089 T C 14: 122,673,514 (GRCm39) Y69C unknown Het
Gm9871 T C 6: 101,773,201 (GRCm39) noncoding transcript Het
Gpr89 A G 3: 96,779,831 (GRCm39) S375P probably damaging Het
Gtf2h4 A G 17: 35,979,556 (GRCm39) probably benign Het
Gtsf1 T A 15: 103,328,391 (GRCm39) N148I possibly damaging Het
Hexa T C 9: 59,462,660 (GRCm39) S129P probably damaging Het
Iigp1 A T 18: 60,523,738 (GRCm39) E285D probably benign Het
Il23r T A 6: 67,403,651 (GRCm39) probably null Het
Iqch T C 9: 63,419,581 (GRCm39) K463R probably benign Het
Kcnd1 A G X: 7,690,323 (GRCm39) probably null Het
Kif26b A T 1: 178,756,407 (GRCm39) probably null Het
Loxl1 A G 9: 58,204,961 (GRCm39) V418A probably damaging Het
Lrp2 T C 2: 69,312,710 (GRCm39) D2526G possibly damaging Het
Map4 G T 9: 109,910,525 (GRCm39) G851C probably damaging Het
Mtmr11 A T 3: 96,076,413 (GRCm39) E456V possibly damaging Het
Muc13 G A 16: 33,628,409 (GRCm39) probably null Het
Myo18a C A 11: 77,710,798 (GRCm39) probably benign Het
Nphp4 T A 4: 152,587,465 (GRCm39) probably benign Het
Nrg3 T C 14: 38,103,659 (GRCm39) E445G probably damaging Het
Ntrk1 A G 3: 87,686,941 (GRCm39) probably null Het
Or8b1 G T 9: 38,399,351 (GRCm39) V9L possibly damaging Het
Parp6 T C 9: 59,531,288 (GRCm39) S57P probably damaging Het
Pcdhb12 A G 18: 37,569,858 (GRCm39) N335D probably damaging Het
Pdzph1 T C 17: 59,195,162 (GRCm39) probably null Het
Pea15a C T 1: 172,026,704 (GRCm39) R79H probably benign Het
Pik3ca A C 3: 32,492,076 (GRCm39) I225L possibly damaging Het
Pim3 T A 15: 88,748,793 (GRCm39) I270N probably damaging Het
Pkd1l1 T A 11: 8,829,112 (GRCm39) R1043S probably damaging Het
Plekhg6 A G 6: 125,354,431 (GRCm39) S70P probably benign Het
Ptpn13 T A 5: 103,637,527 (GRCm39) D138E possibly damaging Het
Rap1gap T C 4: 137,455,034 (GRCm39) L354P probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sf3a1 T A 11: 4,127,443 (GRCm39) S590T probably benign Het
Slc14a2 T C 18: 78,206,304 (GRCm39) probably benign Het
Slfn3 T G 11: 83,103,798 (GRCm39) I223S probably benign Het
Smarca1 C T X: 46,964,160 (GRCm39) V331I probably benign Het
Soat1 A G 1: 156,265,267 (GRCm39) probably benign Het
Tinagl1 A G 4: 130,061,226 (GRCm39) V308A probably benign Het
Tomm22 T A 15: 79,555,488 (GRCm39) Y78N probably damaging Het
Ttll1 T C 15: 83,380,609 (GRCm39) Y252C probably damaging Het
Ttn C T 2: 76,623,474 (GRCm39) V15368I probably benign Het
Ubr4 T C 4: 139,147,684 (GRCm39) probably benign Het
Wbp2 T C 11: 115,970,424 (GRCm39) probably null Het
Xkr7 A T 2: 152,896,177 (GRCm39) I344F probably damaging Het
Zfp947 A T 17: 22,364,919 (GRCm39) C252S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACACCGGTCAGCACTAAATG -3'
(R):5'- AGCTTGCTCTCCTATCACAGAC -3'

Sequencing Primer
(F):5'- TGGGAAACACATCTGTAACTATGAAG -3'
(R):5'- ACTCAAAAAGATGCTTCGTGAG -3'
Posted On 2014-10-16