Incidental Mutation 'IGL03384:Iftap'
| ID |
420799 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Iftap
|
| Ensembl Gene |
ENSMUSG00000027165 |
| Gene Name |
intraflagellar transport associated protein |
| Synonyms |
NWC, B230118H07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03384
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
101391124-101459376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 101415608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 115
(T115N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090513]
[ENSMUST00000099682]
[ENSMUST00000111231]
[ENSMUST00000128898]
[ENSMUST00000160037]
[ENSMUST00000160722]
|
| AlphaFold |
Q9CQI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090513
AA Change: T115N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099682
AA Change: T115N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111231
AA Change: T115N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128898
AA Change: T115N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136601
AA Change: T81N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160037
AA Change: T115N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160722
AA Change: T115N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
G |
11: 72,086,673 (GRCm39) |
I246T |
possibly damaging |
Het |
| Ablim2 |
C |
T |
5: 36,032,216 (GRCm39) |
R614C |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,757,102 (GRCm39) |
L265P |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,462,159 (GRCm39) |
C1072Y |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,950 (GRCm39) |
V148A |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,573,514 (GRCm39) |
V2942M |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,177,673 (GRCm39) |
H442L |
probably benign |
Het |
| Haus6 |
T |
C |
4: 86,501,762 (GRCm39) |
H703R |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,751,368 (GRCm39) |
T1573A |
probably benign |
Het |
| Ighv1-31 |
A |
G |
12: 114,793,093 (GRCm39) |
F48L |
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,226,203 (GRCm39) |
A697D |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,872,228 (GRCm39) |
N94Y |
probably benign |
Het |
| Kank2 |
C |
T |
9: 21,685,874 (GRCm39) |
V667M |
possibly damaging |
Het |
| Mcam |
G |
A |
9: 44,051,809 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,366,140 (GRCm39) |
I2099F |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,742,800 (GRCm39) |
I410V |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,902,425 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
T |
5: 24,902,424 (GRCm39) |
|
probably null |
Het |
| Or10g9b |
T |
C |
9: 39,917,766 (GRCm39) |
T160A |
probably benign |
Het |
| Panx2 |
C |
T |
15: 88,952,322 (GRCm39) |
A271V |
possibly damaging |
Het |
| Papss1 |
T |
A |
3: 131,285,113 (GRCm39) |
H13Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,784,871 (GRCm39) |
T438A |
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Ptchd4 |
T |
A |
17: 42,813,481 (GRCm39) |
C461S |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,990,853 (GRCm39) |
F985S |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,706,297 (GRCm39) |
I214T |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,762,880 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
A |
T |
19: 6,030,402 (GRCm39) |
C343* |
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,117,612 (GRCm39) |
I310V |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,309,350 (GRCm39) |
F287S |
probably damaging |
Het |
| Usp30 |
A |
G |
5: 114,259,635 (GRCm39) |
D447G |
probably damaging |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,136 (GRCm39) |
Y249F |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,405 (GRCm39) |
T665A |
probably damaging |
Het |
| Vps37b |
A |
G |
5: 124,145,670 (GRCm39) |
|
probably null |
Het |
| Wfdc1 |
T |
A |
8: 120,413,016 (GRCm39) |
N198K |
probably benign |
Het |
|
| Other mutations in Iftap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03347:Iftap
|
APN |
2 |
101,413,864 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation