Incidental Mutation 'IGL03169:Ift122'
| ID |
411786 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ift122
|
| Ensembl Gene |
ENSMUSG00000030323 |
| Gene Name |
intraflagellar transport 122 |
| Synonyms |
C86139, sopb, Wdr10 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03169
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 115882922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038234]
[ENSMUST00000112923]
[ENSMUST00000112925]
[ENSMUST00000141305]
|
| AlphaFold |
Q6NWV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038234
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
7.1e1 |
SMART |
|
WD40
|
42 |
81 |
7.16e-10 |
SMART |
|
WD40
|
83 |
120 |
1.54e0 |
SMART |
|
WD40
|
122 |
160 |
1.43e0 |
SMART |
|
WD40
|
162 |
208 |
2.29e1 |
SMART |
|
WD40
|
210 |
249 |
1.91e1 |
SMART |
|
WD40
|
251 |
290 |
3.45e-3 |
SMART |
|
WD40
|
448 |
483 |
1.43e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112923
|
| SMART Domains |
Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
7.1e1 |
SMART |
|
WD40
|
42 |
81 |
7.16e-10 |
SMART |
|
WD40
|
83 |
120 |
1.54e0 |
SMART |
|
WD40
|
122 |
160 |
1.43e0 |
SMART |
|
Blast:WD40
|
163 |
267 |
3e-46 |
BLAST |
|
WD40
|
269 |
308 |
1.91e1 |
SMART |
|
WD40
|
310 |
349 |
3.45e-3 |
SMART |
|
WD40
|
507 |
542 |
1.43e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112925
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
7.1e1 |
SMART |
|
WD40
|
42 |
81 |
7.16e-10 |
SMART |
|
WD40
|
83 |
120 |
1.54e0 |
SMART |
|
WD40
|
122 |
160 |
1.43e0 |
SMART |
|
WD40
|
162 |
208 |
2.29e1 |
SMART |
|
WD40
|
210 |
249 |
1.91e1 |
SMART |
|
WD40
|
251 |
290 |
3.45e-3 |
SMART |
|
WD40
|
448 |
483 |
1.43e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124283
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141305
|
| SMART Domains |
Protein: ENSMUSP00000138535
Gene: ENSMUSG00000030323
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
7.1e1 |
SMART |
|
WD40
|
42 |
81 |
7.16e-10 |
SMART |
|
WD40
|
83 |
120 |
1.54e0 |
SMART |
|
low complexity region
|
124 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155565
|
| 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 member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for a null mutation display embryonic lethality during organogenesis with exencephaly, a ventralized caudal neural tube, preaxial polydactyly, abnormal cilia, and left-right patterning defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
T |
8: 84,658,624 (GRCm39) |
I548F |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,652,019 (GRCm39) |
Q2995L |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,332,616 (GRCm39) |
I485T |
probably damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,454,957 (GRCm39) |
I197N |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,642,928 (GRCm39) |
L222Q |
probably damaging |
Het |
| Ctla4 |
T |
C |
1: 60,953,764 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,492 (GRCm39) |
S485P |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,457,166 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
C |
A |
2: 156,552,938 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
G |
A |
7: 138,679,826 (GRCm39) |
|
probably null |
Het |
| Erbin |
T |
C |
13: 103,977,740 (GRCm39) |
M606V |
possibly damaging |
Het |
| Fat4 |
T |
G |
3: 39,011,547 (GRCm39) |
S2216A |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,429,713 (GRCm39) |
N2779S |
probably benign |
Het |
| Fut1 |
T |
C |
7: 45,268,457 (GRCm39) |
V82A |
probably benign |
Het |
| Gnb1l |
C |
T |
16: 18,359,205 (GRCm39) |
A2V |
probably damaging |
Het |
| Hdac1 |
C |
T |
4: 129,412,624 (GRCm39) |
E327K |
probably null |
Het |
| Hdlbp |
A |
G |
1: 93,344,309 (GRCm39) |
V819A |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,867,785 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
T |
C |
5: 123,913,884 (GRCm39) |
V613A |
possibly damaging |
Het |
| Lamb1 |
T |
C |
12: 31,373,645 (GRCm39) |
V1458A |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,312 (GRCm39) |
K265R |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,353,538 (GRCm39) |
D574G |
probably damaging |
Het |
| Mterf2 |
C |
T |
10: 84,956,324 (GRCm39) |
R100H |
probably benign |
Het |
| Nr1d2 |
C |
T |
14: 18,216,703 (GRCm38) |
R155Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,964,122 (GRCm39) |
T3304A |
probably damaging |
Het |
| Or2j3 |
G |
T |
17: 38,615,992 (GRCm39) |
S120Y |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,831 (GRCm39) |
I133T |
possibly damaging |
Het |
| Os9 |
G |
A |
10: 126,934,463 (GRCm39) |
T391M |
probably benign |
Het |
| Parp6 |
C |
A |
9: 59,557,300 (GRCm39) |
Y131* |
probably null |
Het |
| Plxdc1 |
T |
C |
11: 97,823,146 (GRCm39) |
E358G |
possibly damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Ptprc |
A |
T |
1: 138,041,357 (GRCm39) |
S167R |
probably benign |
Het |
| Rad54l2 |
T |
C |
9: 106,596,263 (GRCm39) |
D225G |
probably benign |
Het |
| Rgs7 |
T |
C |
1: 175,098,401 (GRCm39) |
I53V |
possibly damaging |
Het |
| Rpa1 |
T |
C |
11: 75,192,183 (GRCm39) |
D607G |
probably damaging |
Het |
| Shisa5 |
T |
A |
9: 108,885,560 (GRCm39) |
H213Q |
probably damaging |
Het |
| Syncrip |
A |
G |
9: 88,338,496 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
T |
G |
18: 14,954,592 (GRCm39) |
V556G |
probably damaging |
Het |
| Tgif1 |
A |
C |
17: 71,151,836 (GRCm39) |
S258R |
possibly damaging |
Het |
| Tmem106a |
T |
C |
11: 101,481,284 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
A |
T |
7: 20,522,012 (GRCm39) |
H268L |
probably benign |
Het |
| Vmn1r40 |
A |
T |
6: 89,692,005 (GRCm39) |
Q274L |
probably damaging |
Het |
| Wdr70 |
A |
C |
15: 7,913,821 (GRCm39) |
I609M |
possibly damaging |
Het |
| Wdr91 |
G |
A |
6: 34,882,426 (GRCm39) |
S241L |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,553,022 (GRCm39) |
Y713C |
probably damaging |
Het |
|
| Other mutations in Ift122 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Ift122
|
APN |
6 |
115,894,018 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00783:Ift122
|
APN |
6 |
115,882,863 (GRCm39) |
missense |
probably benign |
|
|
IGL00784:Ift122
|
APN |
6 |
115,882,863 (GRCm39) |
missense |
probably benign |
|
|
IGL00799:Ift122
|
APN |
6 |
115,854,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00908:Ift122
|
APN |
6 |
115,890,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01012:Ift122
|
APN |
6 |
115,876,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01444:Ift122
|
APN |
6 |
115,861,340 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01451:Ift122
|
APN |
6 |
115,889,565 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01940:Ift122
|
APN |
6 |
115,864,332 (GRCm39) |
splice site |
probably benign |
|
|
IGL02089:Ift122
|
APN |
6 |
115,902,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02331:Ift122
|
APN |
6 |
115,864,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02929:Ift122
|
APN |
6 |
115,879,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Ift122
|
UTSW |
6 |
115,902,705 (GRCm39) |
splice site |
probably benign |
|
|
R0158:Ift122
|
UTSW |
6 |
115,901,445 (GRCm39) |
splice site |
probably benign |
|
|
R0496:Ift122
|
UTSW |
6 |
115,882,863 (GRCm39) |
missense |
probably benign |
|
|
R1065:Ift122
|
UTSW |
6 |
115,852,286 (GRCm39) |
splice site |
probably null |
|
|
R1670:Ift122
|
UTSW |
6 |
115,900,844 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1861:Ift122
|
UTSW |
6 |
115,868,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Ift122
|
UTSW |
6 |
115,871,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1990:Ift122
|
UTSW |
6 |
115,901,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2362:Ift122
|
UTSW |
6 |
115,861,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2385:Ift122
|
UTSW |
6 |
115,889,483 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3734:Ift122
|
UTSW |
6 |
115,902,462 (GRCm39) |
splice site |
probably benign |
|
|
R3800:Ift122
|
UTSW |
6 |
115,902,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3981:Ift122
|
UTSW |
6 |
115,890,882 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4289:Ift122
|
UTSW |
6 |
115,900,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4545:Ift122
|
UTSW |
6 |
115,867,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Ift122
|
UTSW |
6 |
115,867,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4641:Ift122
|
UTSW |
6 |
115,865,726 (GRCm39) |
nonsense |
probably null |
|
|
R4815:Ift122
|
UTSW |
6 |
115,858,517 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4854:Ift122
|
UTSW |
6 |
115,839,707 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4928:Ift122
|
UTSW |
6 |
115,892,819 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5021:Ift122
|
UTSW |
6 |
115,841,333 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5121:Ift122
|
UTSW |
6 |
115,889,495 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5200:Ift122
|
UTSW |
6 |
115,897,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5549:Ift122
|
UTSW |
6 |
115,868,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Ift122
|
UTSW |
6 |
115,852,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Ift122
|
UTSW |
6 |
115,892,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6766:Ift122
|
UTSW |
6 |
115,903,204 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7379:Ift122
|
UTSW |
6 |
115,903,263 (GRCm39) |
missense |
probably benign |
|
|
R7402:Ift122
|
UTSW |
6 |
115,871,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7436:Ift122
|
UTSW |
6 |
115,903,263 (GRCm39) |
missense |
probably benign |
|
|
R7437:Ift122
|
UTSW |
6 |
115,903,263 (GRCm39) |
missense |
probably benign |
|
|
R7438:Ift122
|
UTSW |
6 |
115,903,263 (GRCm39) |
missense |
probably benign |
|
|
R7517:Ift122
|
UTSW |
6 |
115,867,543 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7978:Ift122
|
UTSW |
6 |
115,897,313 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8492:Ift122
|
UTSW |
6 |
115,863,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8493:Ift122
|
UTSW |
6 |
115,887,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8669:Ift122
|
UTSW |
6 |
115,900,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8867:Ift122
|
UTSW |
6 |
115,857,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Ift122
|
UTSW |
6 |
115,868,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8947:Ift122
|
UTSW |
6 |
115,901,368 (GRCm39) |
missense |
probably benign |
|
|
R8978:Ift122
|
UTSW |
6 |
115,902,769 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9149:Ift122
|
UTSW |
6 |
115,867,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Ift122
|
UTSW |
6 |
115,857,628 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9573:Ift122
|
UTSW |
6 |
115,857,646 (GRCm39) |
missense |
probably benign |
|
|
R9677:Ift122
|
UTSW |
6 |
115,897,357 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1176:Ift122
|
UTSW |
6 |
115,892,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation