Incidental Mutation 'IGL03347:Iftap'
| ID |
419538 |
| 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 # |
IGL03347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
101391124-101459376 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 101413864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090513]
[ENSMUST00000099682]
[ENSMUST00000111231]
[ENSMUST00000128898]
[ENSMUST00000160037]
[ENSMUST00000160722]
|
| AlphaFold |
Q9CQI4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090513
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099682
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111231
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128898
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000136601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138903
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160037
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160722
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
T |
A |
9: 30,870,534 (GRCm39) |
S670T |
possibly damaging |
Het |
| Adamts9 |
G |
T |
6: 92,864,413 (GRCm39) |
Y185* |
probably null |
Het |
| Ahcyl |
A |
G |
16: 45,974,852 (GRCm39) |
V175A |
probably benign |
Het |
| Arid3a |
T |
A |
10: 79,787,113 (GRCm39) |
S512R |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,872,214 (GRCm39) |
V524A |
probably damaging |
Het |
| Camk2d |
A |
G |
3: 126,590,550 (GRCm39) |
T254A |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,208,724 (GRCm39) |
Q923K |
possibly damaging |
Het |
| Car10 |
G |
A |
11: 92,991,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,891,992 (GRCm39) |
L160P |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 110,065,973 (GRCm39) |
D749V |
possibly damaging |
Het |
| Cox6a2 |
A |
T |
7: 127,804,900 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
A |
T |
2: 155,921,096 (GRCm39) |
Y65N |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,243,199 (GRCm39) |
D8G |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,259,892 (GRCm39) |
S140P |
probably damaging |
Het |
| Fam13b |
G |
A |
18: 34,595,104 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,146,737 (GRCm39) |
R2720G |
probably damaging |
Het |
| Fkbpl |
A |
G |
17: 34,865,287 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
A |
G |
11: 97,242,664 (GRCm39) |
L60P |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,239,321 (GRCm39) |
S287T |
possibly damaging |
Het |
| Kat2b |
G |
A |
17: 53,931,379 (GRCm39) |
|
probably null |
Het |
| Kazald1 |
A |
G |
19: 45,066,855 (GRCm39) |
D218G |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,814,005 (GRCm39) |
E216G |
probably benign |
Het |
| Mtmr9 |
C |
A |
14: 63,781,016 (GRCm39) |
V25L |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,120 (GRCm39) |
|
probably null |
Het |
| Nfkbil1 |
A |
T |
17: 35,439,559 (GRCm39) |
V318E |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,177 (GRCm39) |
|
probably benign |
Het |
| Or5g9 |
T |
C |
2: 85,552,151 (GRCm39) |
V134A |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,019,081 (GRCm39) |
V800A |
probably damaging |
Het |
| Ptprs |
G |
A |
17: 56,742,972 (GRCm39) |
S390L |
probably benign |
Het |
| Ralgapb |
G |
A |
2: 158,307,880 (GRCm39) |
V729I |
possibly damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,187,207 (GRCm39) |
M288L |
probably benign |
Het |
| Slc26a1 |
C |
A |
5: 108,821,676 (GRCm39) |
G71V |
probably damaging |
Het |
| Srcin1 |
A |
T |
11: 97,416,170 (GRCm39) |
S1021T |
probably damaging |
Het |
| Supt6 |
A |
T |
11: 78,123,011 (GRCm39) |
M124K |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,705,633 (GRCm39) |
F1157S |
probably damaging |
Het |
| Tmcc2 |
A |
G |
1: 132,285,390 (GRCm39) |
S424P |
probably damaging |
Het |
| Trim37 |
G |
A |
11: 87,092,447 (GRCm39) |
R752Q |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,734,625 (GRCm39) |
Q238L |
probably damaging |
Het |
| Vmn2r23 |
C |
A |
6: 123,681,333 (GRCm39) |
H80Q |
probably benign |
Het |
| Wnt9a |
A |
T |
11: 59,221,740 (GRCm39) |
T213S |
probably damaging |
Het |
| Zfp953 |
T |
A |
13: 67,491,490 (GRCm39) |
Q154L |
probably benign |
Het |
|
| Other mutations in Iftap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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