Incidental Mutation 'R8026:Iftap'
ID 637684
Institutional Source Beutler Lab
Gene Symbol Iftap
Ensembl Gene ENSMUSG00000027165
Gene Name intraflagellar transport associated protein
Synonyms NWC, B230118H07Rik
MMRRC Submission 067465-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R8026 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 101391124-101459376 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 101400989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090513] [ENSMUST00000099682] [ENSMUST00000111231] [ENSMUST00000160037] [ENSMUST00000160722] [ENSMUST00000177152]
AlphaFold Q9CQI4
Predicted Effect probably benign
Transcript: ENSMUST00000090513
Predicted Effect probably benign
Transcript: ENSMUST00000099682
Predicted Effect probably benign
Transcript: ENSMUST00000111231
Predicted Effect probably benign
Transcript: ENSMUST00000136601
Predicted Effect probably benign
Transcript: ENSMUST00000160037
Predicted Effect probably benign
Transcript: ENSMUST00000160722
Predicted Effect probably benign
Transcript: ENSMUST00000177152
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,611,723 (GRCm39) V513A probably damaging Het
Acsf2 C T 11: 94,453,714 (GRCm39) V416M probably damaging Het
Adrm1 G A 2: 179,817,002 (GRCm39) A225T unknown Het
Aldh9a1 T C 1: 167,180,236 (GRCm39) probably null Het
Apbb2 T C 5: 66,608,987 (GRCm39) D220G probably benign Het
Bace2 T C 16: 97,238,052 (GRCm39) V501A probably benign Het
Camsap1 T C 2: 25,828,214 (GRCm39) N1170S probably benign Het
Casr A G 16: 36,315,979 (GRCm39) V697A probably damaging Het
Clcn1 T C 6: 42,284,595 (GRCm39) probably null Het
Cobl T C 11: 12,203,459 (GRCm39) K1081R probably benign Het
Ctr9 T A 7: 110,633,099 (GRCm39) L116I probably damaging Het
Dennd4a T C 9: 64,780,312 (GRCm39) F616S probably damaging Het
Dynlt1a C T 17: 6,362,089 (GRCm39) G30S possibly damaging Het
Eif1 T C 11: 100,211,274 (GRCm39) S23P possibly damaging Het
Eml6 A C 11: 29,699,973 (GRCm39) L1721R possibly damaging Het
Fscb A G 12: 64,521,049 (GRCm39) I139T probably benign Het
Fstl4 A G 11: 52,959,496 (GRCm39) E179G probably damaging Het
Fuom T C 7: 139,680,067 (GRCm39) T95A Het
Gigyf1 C T 5: 137,523,740 (GRCm39) H1001Y probably damaging Het
Gm21886 T A 18: 80,132,961 (GRCm39) S66C probably damaging Het
Helz2 G A 2: 180,881,998 (GRCm39) T265I probably benign Het
Hs6st3 G T 14: 120,106,968 (GRCm39) V459F probably damaging Het
Ido2 A G 8: 25,025,156 (GRCm39) probably null Het
Idua A G 5: 108,818,115 (GRCm39) I96V probably benign Het
Inpp5j A G 11: 3,445,171 (GRCm39) S494P Het
Krt19 A G 11: 100,032,209 (GRCm39) V285A probably damaging Het
Krt71 T G 15: 101,646,817 (GRCm39) D297A possibly damaging Het
L3hypdh G A 12: 72,131,723 (GRCm39) R70C probably damaging Het
Masp1 T C 16: 23,303,156 (GRCm39) Y324C probably damaging Het
Mfap2 A G 4: 140,741,114 (GRCm39) D25G possibly damaging Het
Mmp17 G A 5: 129,672,148 (GRCm39) probably null Het
Mroh7 G A 4: 106,578,634 (GRCm39) P15S probably benign Het
Muc5b T A 7: 141,417,373 (GRCm39) C3440S probably benign Het
Naip5 C A 13: 100,382,406 (GRCm39) S101I probably damaging Het
Neb A T 2: 52,113,060 (GRCm39) Y1066N Het
Nop56 T A 2: 130,119,188 (GRCm39) C38S probably benign Het
Nup214 T A 2: 31,923,362 (GRCm39) L1297Q possibly damaging Het
Oasl2 C A 5: 115,040,329 (GRCm39) probably benign Het
Or4a70 A G 2: 89,324,132 (GRCm39) F175L probably damaging Het
Or4c58 T C 2: 89,675,273 (GRCm39) N15D probably benign Het
Or51b4 A G 7: 103,530,904 (GRCm39) V182A possibly damaging Het
Or52a5 T A 7: 103,427,547 (GRCm39) I2F probably benign Het
Or5h24 T C 16: 58,918,731 (GRCm39) H208R unknown Het
Or8g4 T C 9: 39,662,092 (GRCm39) S137P possibly damaging Het
Pacrg C T 17: 10,795,496 (GRCm39) V155I probably benign Het
Patz1 A T 11: 3,257,658 (GRCm39) M96L probably benign Het
Pcca A G 14: 122,875,794 (GRCm39) D141G probably benign Het
Ptprr A G 10: 115,884,075 (GRCm39) Y44C probably damaging Het
Rad51ap1 A G 6: 126,911,675 (GRCm39) probably null Het
Raet1e A C 10: 22,057,198 (GRCm39) D174A probably damaging Het
Rhobtb2 T G 14: 70,034,214 (GRCm39) D337A probably benign Het
Sbf2 T C 7: 109,934,594 (GRCm39) K1377E probably damaging Het
Sh3pxd2b A G 11: 32,361,567 (GRCm39) K260E probably damaging Het
Slc4a8 A T 15: 100,685,170 (GRCm39) I234F possibly damaging Het
Srgap3 C T 6: 112,716,325 (GRCm39) R625H probably benign Het
Tbxas1 C T 6: 39,004,830 (GRCm39) T359I probably benign Het
Trim9 T A 12: 70,337,161 (GRCm39) S309C probably benign Het
Ttn G A 2: 76,659,483 (GRCm39) P12191S unknown Het
Unc80 A G 1: 66,522,463 (GRCm39) R222G possibly damaging Het
Vmn1r202 A T 13: 22,686,314 (GRCm39) H34Q possibly damaging Het
Vmn2r61 T A 7: 41,916,141 (GRCm39) N251K probably benign Het
Vmn2r67 A T 7: 84,785,924 (GRCm39) Y694N probably damaging Het
Vwde A G 6: 13,205,782 (GRCm39) F255S probably benign Het
Zfp532 T G 18: 65,758,227 (GRCm39) I720R possibly damaging Het
Zfp819 A G 7: 43,267,319 (GRCm39) T601A probably benign Het
Zfp853 G T 5: 143,274,280 (GRCm39) Q462K unknown 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
R0591:Iftap UTSW 2 101,406,462 (GRCm39) missense probably benign 0.14
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
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'- TAGAGAGGCCTGACTAACACAC -3'
(R):5'- CCAAGCTTCAATTTCAGGAGAGG -3'

Sequencing Primer
(F):5'- ATATCCTGTGTACCTGAAGACCCG -3'
(R):5'- AGAGGAATTTTTGCACTGGGAC -3'
Posted On 2020-07-27