Incidental Mutation 'R0880:Iftap'
ID 80450
Institutional Source Beutler Lab
Gene Symbol Iftap
Ensembl Gene ENSMUSG00000027165
Gene Name intraflagellar transport associated protein
Synonyms NWC, B230118H07Rik
MMRRC Submission 039047-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0880 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 101391124-101459376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101406455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 158 (T158S)
Ref Sequence ENSEMBL: ENSMUSP00000097274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090513] [ENSMUST00000099682] [ENSMUST00000111231] [ENSMUST00000128898] [ENSMUST00000160037] [ENSMUST00000160722] [ENSMUST00000177152]
AlphaFold Q9CQI4
Predicted Effect probably benign
Transcript: ENSMUST00000090513
AA Change: T158S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000099682
AA Change: T158S

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000111231
AA Change: T158S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000128898
AA Change: T158S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000136601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138903
Predicted Effect probably benign
Transcript: ENSMUST00000160037
AA Change: T158S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000160722
AA Change: T158S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000177152
AA Change: T6S

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.5%
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,537,609 (GRCm39) Y701H possibly damaging Het
Akap6 A G 12: 53,186,291 (GRCm39) D1235G possibly damaging Het
Arhgef18 A G 8: 3,439,032 (GRCm39) probably benign Het
Astn2 A G 4: 65,566,567 (GRCm39) Y812H probably damaging Het
Bmpr1b G T 3: 141,576,557 (GRCm39) S92* probably null Het
Camsap2 T C 1: 136,208,708 (GRCm39) D934G probably benign Het
Cdh23 A G 10: 60,242,200 (GRCm39) V1076A possibly damaging Het
Cdhr1 T C 14: 36,802,591 (GRCm39) D624G possibly damaging Het
Cfap57 A T 4: 118,439,035 (GRCm39) Y830* probably null Het
Eml3 A G 19: 8,918,279 (GRCm39) D790G possibly damaging Het
Ess2 A G 16: 17,729,051 (GRCm39) V40A probably damaging Het
Gucy2c T C 6: 136,686,830 (GRCm39) probably null Het
Helz2 A C 2: 180,877,928 (GRCm39) S957A probably benign Het
Ifi209 T A 1: 173,472,379 (GRCm39) S407T probably damaging Het
Muc6 T C 7: 141,217,270 (GRCm39) T2403A possibly damaging Het
Nfe2 T C 15: 103,157,689 (GRCm39) N101D probably damaging Het
Nsf A T 11: 103,804,198 (GRCm39) V178D possibly damaging Het
P4ha3 A G 7: 99,955,116 (GRCm39) T324A probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Rhbdf1 T C 11: 32,163,432 (GRCm39) probably null Het
Samd9l G A 6: 3,377,064 (GRCm39) L66F probably damaging Het
Speg T C 1: 75,381,705 (GRCm39) F1024S probably damaging Het
Sspo A G 6: 48,452,869 (GRCm39) N2859S possibly damaging Het
Tnfrsf21 G A 17: 43,348,733 (GRCm39) W115* probably null 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
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 2013-11-07