Incidental Mutation 'R0591:Iftap'
ID 55958
Institutional Source Beutler Lab
Gene Symbol Iftap
Ensembl Gene ENSMUSG00000027165
Gene Name intraflagellar transport associated protein
Synonyms NWC, B230118H07Rik
MMRRC Submission 038781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0591 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 101391124-101459376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101406462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 155 (D155E)
Ref Sequence ENSEMBL: ENSMUSP00000097274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090513] [ENSMUST00000099682] [ENSMUST00000111231] [ENSMUST00000128898] [ENSMUST00000160722] [ENSMUST00000177152] [ENSMUST00000160037]
AlphaFold Q9CQI4
Predicted Effect probably benign
Transcript: ENSMUST00000090513
AA Change: D155E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000099682
AA Change: D155E

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000111231
AA Change: D155E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000128898
AA Change: D155E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000136601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138903
Predicted Effect probably benign
Transcript: ENSMUST00000160722
AA Change: D155E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000177152
AA Change: D3E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000160037
AA Change: D155E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0649 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.7%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous deletion of one of two alternative first exons and its promoter has no obvious phenotypic effect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,774,704 (GRCm39) E1298* probably null Het
Aadacl2fm2 C A 3: 59,659,550 (GRCm39) Y334* probably null Het
Adam19 T C 11: 46,012,238 (GRCm39) probably benign Het
Agt A T 8: 125,283,678 (GRCm39) S480R possibly damaging Het
Anapc1 G T 2: 128,461,252 (GRCm39) D1769E probably benign Het
Aox4 T C 1: 58,278,261 (GRCm39) probably benign Het
Apol9b G A 15: 77,619,830 (GRCm39) V209I possibly damaging Het
Appl2 A T 10: 83,460,509 (GRCm39) I116K possibly damaging Het
BC051665 A G 13: 60,932,422 (GRCm39) probably benign Het
Cactin G T 10: 81,159,837 (GRCm39) E89* probably null Het
Carf G T 1: 60,165,073 (GRCm39) probably benign Het
Ccdc167 A G 17: 29,924,235 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,885,808 (GRCm39) probably null Het
Clca4b T A 3: 144,621,353 (GRCm39) K574* probably null Het
Crabp1 T A 9: 54,672,887 (GRCm39) I64N probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dglucy T C 12: 100,825,777 (GRCm39) probably benign Het
Dock10 C T 1: 80,518,936 (GRCm39) probably benign Het
Ednrb A T 14: 104,060,710 (GRCm39) probably null Het
Ercc6 T C 14: 32,279,973 (GRCm39) probably benign Het
Golga3 A C 5: 110,336,609 (GRCm39) Q416P probably damaging Het
Gpr12 A G 5: 146,520,445 (GRCm39) V159A probably benign Het
Heatr5a A T 12: 51,956,884 (GRCm39) probably benign Het
Helz2 A G 2: 180,873,909 (GRCm39) I2195T probably damaging Het
Hikeshi A T 7: 89,569,295 (GRCm39) N76K possibly damaging Het
Hsd11b1 T C 1: 192,911,984 (GRCm39) probably benign Het
Inhba A T 13: 16,201,405 (GRCm39) K322N probably damaging Het
Katnal1 A T 5: 148,829,326 (GRCm39) F291L probably damaging Het
Kcnj9 T C 1: 172,150,665 (GRCm39) E316G probably damaging Het
Lrsam1 A G 2: 32,823,935 (GRCm39) probably benign Het
Mcf2l T G 8: 13,068,751 (GRCm39) S1075A probably benign Het
Mios T C 6: 8,215,470 (GRCm39) V222A possibly damaging Het
Mycbp2 A T 14: 103,433,827 (GRCm39) probably benign Het
Nars1 A T 18: 64,633,638 (GRCm39) I544N probably damaging Het
Or5ak23 A G 2: 85,245,034 (GRCm39) L63P possibly damaging Het
Pbrm1 A G 14: 30,768,387 (GRCm39) probably benign Het
Plcb4 A G 2: 135,796,932 (GRCm39) probably benign Het
Pnliprp1 A G 19: 58,723,138 (GRCm39) D213G probably damaging Het
Psap A G 10: 60,136,634 (GRCm39) N538D possibly damaging Het
Ptdss1 A G 13: 67,120,714 (GRCm39) probably benign Het
Rap1b G A 10: 117,654,522 (GRCm39) probably benign Het
Rhcg T A 7: 79,244,520 (GRCm39) probably benign Het
Ryr1 G A 7: 28,804,220 (GRCm39) T550I possibly damaging Het
Samm50 G A 15: 84,095,369 (GRCm39) G452R probably benign Het
Scin A G 12: 40,130,929 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,854 (GRCm39) L81S probably damaging Het
Skint6 A C 4: 112,715,366 (GRCm39) probably benign Het
Slc30a4 A T 2: 122,527,160 (GRCm39) L411H probably damaging Het
Slc44a5 C T 3: 153,939,782 (GRCm39) probably benign Het
Slc4a3 C T 1: 75,525,665 (GRCm39) A255V probably damaging Het
Slc9b1 A G 3: 135,088,593 (GRCm39) N318S possibly damaging Het
Tcp11l2 A T 10: 84,440,458 (GRCm39) H287L probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnks2 T A 19: 36,849,962 (GRCm39) Y605N probably damaging Het
Topbp1 T A 9: 103,227,037 (GRCm39) N1490K probably benign Het
Ube4b T G 4: 149,442,034 (GRCm39) probably benign Het
Usp4 G A 9: 108,225,228 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r184 A T 7: 25,966,500 (GRCm39) D82V probably damaging Het
Other mutations in Iftap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03347:Iftap APN 2 101,413,864 (GRCm39) critical splice donor site probably null
IGL03384:Iftap APN 2 101,415,608 (GRCm39) missense probably benign 0.00
R0190:Iftap UTSW 2 101,416,775 (GRCm39) missense probably benign 0.16
R0436:Iftap UTSW 2 101,440,864 (GRCm39) splice site probably benign
R0880:Iftap UTSW 2 101,406,455 (GRCm39) missense probably benign 0.32
R1608:Iftap UTSW 2 101,440,916 (GRCm39) missense probably damaging 1.00
R6008:Iftap UTSW 2 101,413,898 (GRCm39) missense possibly damaging 0.52
R6060:Iftap UTSW 2 101,440,950 (GRCm39) missense probably benign 0.06
R6155:Iftap UTSW 2 101,406,355 (GRCm39) critical splice donor site probably null
R6805:Iftap UTSW 2 101,396,804 (GRCm39) missense probably benign 0.29
R7209:Iftap UTSW 2 101,396,727 (GRCm39) makesense probably null
R7258:Iftap UTSW 2 101,440,937 (GRCm39) missense probably null 0.96
R7680:Iftap UTSW 2 101,440,901 (GRCm39) missense probably damaging 1.00
R7898:Iftap UTSW 2 101,416,747 (GRCm39) missense probably benign 0.34
R8026:Iftap UTSW 2 101,400,989 (GRCm39) intron probably benign
R8688:Iftap UTSW 2 101,440,916 (GRCm39) missense probably damaging 1.00
Z1186:Iftap UTSW 2 101,440,950 (GRCm39) missense probably benign 0.06
Z1187:Iftap UTSW 2 101,440,950 (GRCm39) missense probably benign 0.06
Z1188:Iftap UTSW 2 101,440,950 (GRCm39) missense probably benign 0.06
Z1189:Iftap UTSW 2 101,440,950 (GRCm39) missense probably benign 0.06
Z1190:Iftap UTSW 2 101,440,950 (GRCm39) missense probably benign 0.06
Z1192:Iftap UTSW 2 101,440,950 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GTGCTTCTACAGCCAAACACCATTG -3'
(R):5'- AGTCAGGTTCACAGACGAAGACCC -3'

Sequencing Primer
(F):5'- GACTCTAAATTATCCCAAACCAAGG -3'
(R):5'- TACTTGGGGGAGATGACGAA -3'
Posted On 2013-07-11