Incidental Mutation 'R4545:Ift122'
| ID |
333714 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115867549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 433
(L433Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038234]
[ENSMUST00000112923]
[ENSMUST00000112925]
[ENSMUST00000141305]
|
| AlphaFold |
Q6NWV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038234
AA Change: L433Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: L433Q
| 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 damaging
Transcript: ENSMUST00000112923
AA Change: L492Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: L492Q
| 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 damaging
Transcript: ENSMUST00000112925
AA Change: L433Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: L433Q
| 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: ENSMUST00000138113
|
| 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: ENSMUST00000146950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152092
|
| Meta Mutation Damage Score |
0.7417 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (41/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
| Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
| Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
| Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
| Coq8b |
G |
T |
7: 26,932,930 (GRCm39) |
C13F |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Decr1 |
C |
A |
4: 15,930,979 (GRCm39) |
V118F |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
| Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
| Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
| Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
| Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
| Or1e30 |
T |
C |
11: 73,677,992 (GRCm39) |
V76A |
probably damaging |
Het |
| Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
| Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
| Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
| Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,550,875 (GRCm39) |
K165E |
possibly 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 |
|
IGL03169:Ift122
|
APN |
6 |
115,882,922 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGAGCCAGCGTTAGATCAC -3'
(R):5'- AGCATGCTGTGAGTCTGAGG -3'
Sequencing Primer
(F):5'- AGCGTTAGATCACCACTGCTG -3'
(R):5'- TGTGAGTCTGAGGGCCACAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation