Incidental Mutation 'R6060:Iftap'
| ID |
483169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iftap
|
| Ensembl Gene |
ENSMUSG00000027165 |
| Gene Name |
intraflagellar transport associated protein |
| Synonyms |
NWC, B230118H07Rik |
| MMRRC Submission |
044426-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
101391124-101459376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101440950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 18
(K18E)
|
| 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: K18E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099682
AA Change: K18E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111231
AA Change: K18E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128898
AA Change: K18E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132640
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160037
AA Change: K18E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160722
AA Change: K18E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177171
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| 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 |
|---|
| 1110057P08Rik |
A |
G |
16: 88,966,630 (GRCm39) |
|
probably null |
Het |
| Adh1 |
T |
C |
3: 137,992,544 (GRCm39) |
I220T |
probably damaging |
Het |
| Ajap1 |
G |
A |
4: 153,516,699 (GRCm39) |
T214I |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,749,601 (GRCm39) |
F476S |
probably damaging |
Het |
| Atp6v1g3 |
A |
G |
1: 138,201,582 (GRCm39) |
K27E |
possibly damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,245 (GRCm39) |
I291T |
probably benign |
Het |
| Cnot9 |
T |
A |
1: 74,556,285 (GRCm39) |
N27K |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,153,857 (GRCm39) |
L244* |
probably null |
Het |
| Cyp2d22 |
T |
C |
15: 82,260,086 (GRCm39) |
T6A |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,107,799 (GRCm39) |
E1829G |
probably damaging |
Het |
| Dnajc4 |
G |
T |
19: 6,968,093 (GRCm39) |
S61* |
probably null |
Het |
| Dpysl4 |
A |
G |
7: 138,669,324 (GRCm39) |
M1V |
probably null |
Het |
| Fam149a |
T |
A |
8: 45,811,799 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,710,489 (GRCm39) |
E547G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,727,472 (GRCm39) |
F127I |
possibly damaging |
Het |
| Ifi207 |
G |
A |
1: 173,558,093 (GRCm39) |
T215I |
unknown |
Het |
| Lpxn |
T |
C |
19: 12,810,489 (GRCm39) |
L311P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,640,946 (GRCm39) |
N3499K |
|
Het |
| Mknk2 |
A |
T |
10: 80,507,468 (GRCm39) |
D76E |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,451,700 (GRCm39) |
Y445N |
probably damaging |
Het |
| Ngb |
A |
C |
12: 87,146,963 (GRCm39) |
S85A |
probably benign |
Het |
| Nrp1 |
C |
A |
8: 129,224,419 (GRCm39) |
H727Q |
probably damaging |
Het |
| Or5b112 |
C |
T |
19: 13,319,497 (GRCm39) |
A125V |
probably benign |
Het |
| Or6k2 |
C |
A |
1: 173,986,907 (GRCm39) |
C189* |
probably null |
Het |
| Pold3 |
A |
C |
7: 99,749,819 (GRCm39) |
Y115* |
probably null |
Het |
| Ppp1r12b |
C |
G |
1: 134,883,262 (GRCm39) |
V87L |
probably benign |
Het |
| Ppp1r26 |
A |
G |
2: 28,341,042 (GRCm39) |
N224S |
probably benign |
Het |
| Prl7a1 |
G |
A |
13: 27,821,571 (GRCm39) |
P122S |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,612 (GRCm39) |
H400R |
possibly damaging |
Het |
| Rnf32 |
A |
T |
5: 29,411,752 (GRCm39) |
I214L |
probably benign |
Het |
| Safb2 |
A |
T |
17: 56,870,246 (GRCm39) |
|
probably null |
Het |
| Serpinb6e |
A |
G |
13: 34,025,256 (GRCm39) |
C12R |
possibly damaging |
Het |
| Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,672,338 (GRCm39) |
A821V |
probably damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,767,972 (GRCm39) |
M179V |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,299,004 (GRCm39) |
Y141C |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,522,918 (GRCm39) |
V1450I |
probably damaging |
Het |
| Trmt1l |
A |
G |
1: 151,333,331 (GRCm39) |
N642S |
possibly damaging |
Het |
| Ttll13 |
G |
A |
7: 79,908,491 (GRCm39) |
R576H |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,738,272 (GRCm39) |
R43S |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,355,257 (GRCm39) |
Y175C |
probably damaging |
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 |
|
|
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 |
|
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'- GAAGAGTTCAATGAATGTTCACGAG -3'
(R):5'- AAACTGCTGAAGTCTCTCCC -3'
Sequencing Primer
(F):5'- GTTCACGAGTCTTCTGAAAAGATACC -3'
(R):5'- TTATGCTGGCGCCCACTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation