Incidental Mutation 'IGL03389:Ift74'
ID 420977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift74
Ensembl Gene ENSMUSG00000028576
Gene Name intraflagellar transport 74
Synonyms Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03389
Quality Score
Status
Chromosome 4
Chromosomal Location 94502728-94581466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94510149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 60 (V60A)
Ref Sequence ENSEMBL: ENSMUSP00000102721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030311] [ENSMUST00000107104]
AlphaFold Q8BKE9
Predicted Effect probably benign
Transcript: ENSMUST00000030311
AA Change: V60A

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: V60A

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 47 62 N/A INTRINSIC
coiled coil region 98 271 N/A INTRINSIC
coiled coil region 302 382 N/A INTRINSIC
coiled coil region 430 490 N/A INTRINSIC
coiled coil region 512 546 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107104
AA Change: V60A

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576
AA Change: V60A

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 47 62 N/A INTRINSIC
coiled coil region 98 271 N/A INTRINSIC
coiled coil region 302 352 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy. [provided by MGI curators]
Allele List at MGI

All alleles(23) : Targeted(2) Gene trapped(21)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A T 1: 38,249,430 (GRCm39) V559E possibly damaging Het
Alpk2 G T 18: 65,437,937 (GRCm39) P1619Q possibly damaging Het
Amz1 C A 5: 140,737,782 (GRCm39) F347L probably benign Het
Ank1 T C 8: 23,578,076 (GRCm39) probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Cdc16 A G 8: 13,809,179 (GRCm39) Y48C probably damaging Het
Cfap91 C T 16: 38,144,498 (GRCm39) probably null Het
Cul2 A G 18: 3,431,029 (GRCm39) D538G probably benign Het
Cyp2j13 T A 4: 95,956,558 (GRCm39) I184F probably damaging Het
Cyp4a12b A T 4: 115,291,005 (GRCm39) R344S possibly damaging Het
Dis3 A G 14: 99,332,783 (GRCm39) probably benign Het
Dnah17 T C 11: 117,985,805 (GRCm39) H1424R probably damaging Het
Eef2 A G 10: 81,015,540 (GRCm39) I354V probably benign Het
Elmo1 A G 13: 20,526,596 (GRCm39) D382G probably damaging Het
Epas1 T A 17: 87,131,131 (GRCm39) S304T probably benign Het
Fry A T 5: 150,317,696 (GRCm39) D892V probably damaging Het
Gprc5a G T 6: 135,060,823 (GRCm39) D355Y possibly damaging Het
Hsd17b7 G A 1: 169,787,320 (GRCm39) T228I probably damaging Het
Insrr A T 3: 87,716,038 (GRCm39) I578F probably damaging Het
Izumo1 T C 7: 45,273,613 (GRCm39) F122S probably damaging Het
Lss G A 10: 76,372,173 (GRCm39) R176H probably damaging Het
Ltb T C 17: 35,414,044 (GRCm39) S61P probably benign Het
Mybphl T C 3: 108,283,034 (GRCm39) V274A probably benign Het
Myo9a T G 9: 59,776,890 (GRCm39) L1096W probably damaging Het
Nlrc5 T A 8: 95,248,102 (GRCm39) L1690H probably damaging Het
Nrap A T 19: 56,340,148 (GRCm39) S790T probably benign Het
Nrcam A G 12: 44,596,689 (GRCm39) D308G probably benign Het
Or10a3 G A 7: 108,479,982 (GRCm39) T277M probably damaging Het
Or1j17 A G 2: 36,578,274 (GRCm39) T87A probably benign Het
Pias2 A G 18: 77,185,354 (GRCm39) D138G probably damaging Het
Prpf4b T C 13: 35,084,439 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,647,397 (GRCm39) S788P probably damaging Het
Slc5a6 T C 5: 31,194,821 (GRCm39) Y525C probably damaging Het
Snx32 T C 19: 5,546,082 (GRCm39) probably benign Het
Tnfaip3 T C 10: 18,880,735 (GRCm39) E444G probably benign Het
Ttc27 T C 17: 75,165,028 (GRCm39) Y745H probably benign Het
Other mutations in Ift74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Ift74 APN 4 94,581,259 (GRCm39) missense probably damaging 1.00
IGL01534:Ift74 APN 4 94,568,181 (GRCm39) missense probably benign 0.00
IGL01701:Ift74 APN 4 94,550,895 (GRCm39) missense possibly damaging 0.94
IGL02155:Ift74 APN 4 94,567,488 (GRCm39) missense probably benign
IGL02455:Ift74 APN 4 94,524,068 (GRCm39) nonsense probably null
IGL02877:Ift74 APN 4 94,513,018 (GRCm39) critical splice donor site probably null
P0005:Ift74 UTSW 4 94,550,813 (GRCm39) splice site probably benign
PIT4243001:Ift74 UTSW 4 94,575,141 (GRCm39) missense possibly damaging 0.94
R0211:Ift74 UTSW 4 94,567,492 (GRCm39) missense probably benign 0.05
R0211:Ift74 UTSW 4 94,567,492 (GRCm39) missense probably benign 0.05
R1019:Ift74 UTSW 4 94,524,072 (GRCm39) missense probably benign 0.20
R1240:Ift74 UTSW 4 94,581,174 (GRCm39) splice site probably null
R1699:Ift74 UTSW 4 94,573,940 (GRCm39) missense probably benign 0.09
R1937:Ift74 UTSW 4 94,550,883 (GRCm39) missense probably benign 0.10
R2114:Ift74 UTSW 4 94,515,496 (GRCm39) missense probably benign 0.00
R2116:Ift74 UTSW 4 94,515,496 (GRCm39) missense probably benign 0.00
R2117:Ift74 UTSW 4 94,515,496 (GRCm39) missense probably benign 0.00
R2181:Ift74 UTSW 4 94,520,951 (GRCm39) missense probably damaging 0.98
R2680:Ift74 UTSW 4 94,541,265 (GRCm39) missense probably damaging 1.00
R3434:Ift74 UTSW 4 94,510,089 (GRCm39) critical splice acceptor site probably null
R3435:Ift74 UTSW 4 94,510,089 (GRCm39) critical splice acceptor site probably null
R4080:Ift74 UTSW 4 94,541,149 (GRCm39) splice site probably null
R4379:Ift74 UTSW 4 94,568,171 (GRCm39) missense probably benign 0.00
R4777:Ift74 UTSW 4 94,541,234 (GRCm39) missense probably benign 0.00
R5197:Ift74 UTSW 4 94,550,833 (GRCm39) missense probably benign 0.00
R5934:Ift74 UTSW 4 94,520,971 (GRCm39) missense probably benign
R5994:Ift74 UTSW 4 94,579,961 (GRCm39) missense possibly damaging 0.86
R6639:Ift74 UTSW 4 94,552,496 (GRCm39) intron probably benign
R6781:Ift74 UTSW 4 94,515,539 (GRCm39) missense probably damaging 1.00
R7156:Ift74 UTSW 4 94,549,189 (GRCm39) missense possibly damaging 0.95
R7239:Ift74 UTSW 4 94,541,187 (GRCm39) missense probably benign 0.00
R7899:Ift74 UTSW 4 94,510,214 (GRCm39) missense possibly damaging 0.90
R8814:Ift74 UTSW 4 94,550,873 (GRCm39) nonsense probably null
R8944:Ift74 UTSW 4 94,510,128 (GRCm39) missense probably damaging 1.00
R9029:Ift74 UTSW 4 94,506,271 (GRCm39) missense probably benign 0.11
R9112:Ift74 UTSW 4 94,575,103 (GRCm39) missense probably benign 0.00
R9615:Ift74 UTSW 4 94,550,822 (GRCm39) critical splice acceptor site probably null
Posted On 2016-08-02