Incidental Mutation 'IGL02331:Ift122'
| ID |
288681 |
| 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 # |
IGL02331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115864285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 310
(M310T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038234]
[ENSMUST00000112923]
[ENSMUST00000112925]
[ENSMUST00000141305]
|
| AlphaFold |
Q6NWV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038234
AA Change: M310T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: M310T
| 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: M369T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: M369T
| 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: M310T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: M310T
| 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: ENSMUST00000149083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152092
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
G |
11: 105,862,170 (GRCm39) |
F241L |
possibly damaging |
Het |
| Alx1 |
A |
G |
10: 102,858,160 (GRCm39) |
F180L |
possibly damaging |
Het |
| Apaf1 |
T |
C |
10: 90,895,481 (GRCm39) |
D428G |
probably damaging |
Het |
| Arap2 |
G |
T |
5: 62,807,025 (GRCm39) |
|
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,914,832 (GRCm39) |
Y511H |
probably damaging |
Het |
| Bmp7 |
A |
T |
2: 172,714,724 (GRCm39) |
C362S |
probably damaging |
Het |
| Bpifb9a |
A |
G |
2: 154,104,307 (GRCm39) |
D250G |
possibly damaging |
Het |
| Ccnk |
T |
A |
12: 108,155,343 (GRCm39) |
L100H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,301,322 (GRCm39) |
I451V |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,613,192 (GRCm39) |
|
probably null |
Het |
| Cep78 |
T |
A |
19: 15,951,779 (GRCm39) |
Q342L |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,547,167 (GRCm39) |
|
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,520,844 (GRCm39) |
R420G |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
| Dbnl |
T |
C |
11: 5,749,997 (GRCm39) |
*433R |
probably null |
Het |
| Elovl5 |
T |
C |
9: 77,887,181 (GRCm39) |
S191P |
possibly damaging |
Het |
| Fbxo42 |
A |
G |
4: 140,895,157 (GRCm39) |
E40G |
probably benign |
Het |
| Fpgt |
T |
C |
3: 154,793,499 (GRCm39) |
D176G |
possibly damaging |
Het |
| Gm1110 |
C |
A |
9: 26,824,583 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
T |
9: 42,453,284 (GRCm39) |
S700R |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,099,939 (GRCm39) |
S121P |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,517,402 (GRCm39) |
V263A |
probably benign |
Het |
| Hsd11b1 |
A |
C |
1: 192,922,924 (GRCm39) |
L81R |
probably damaging |
Het |
| Isg20l2 |
G |
T |
3: 87,839,394 (GRCm39) |
V202L |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,986,415 (GRCm39) |
K111E |
probably damaging |
Het |
| Kxd1 |
T |
C |
8: 70,968,090 (GRCm39) |
T128A |
probably benign |
Het |
| Lgals7 |
A |
G |
7: 28,565,143 (GRCm39) |
T94A |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,641,816 (GRCm39) |
H1382R |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,226,726 (GRCm39) |
T1434A |
possibly damaging |
Het |
| Mybl2 |
C |
T |
2: 162,916,605 (GRCm39) |
R419W |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,771,111 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,702,389 (GRCm39) |
V2138A |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 58,994,670 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
G |
9: 38,906,402 (GRCm39) |
S110P |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,263,532 (GRCm39) |
V105A |
probably benign |
Het |
| Pfkp |
A |
C |
13: 6,647,996 (GRCm39) |
F527V |
probably benign |
Het |
| Pilra |
C |
A |
5: 137,833,917 (GRCm39) |
G47* |
probably null |
Het |
| Pkdrej |
C |
A |
15: 85,705,528 (GRCm39) |
C136F |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,575,200 (GRCm39) |
M36K |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,999 (GRCm39) |
V124A |
probably benign |
Het |
| St7l |
A |
G |
3: 104,833,904 (GRCm39) |
T522A |
probably damaging |
Het |
| Stox2 |
G |
A |
8: 47,644,979 (GRCm39) |
P891L |
probably damaging |
Het |
| Trbv12-1 |
T |
C |
6: 41,090,972 (GRCm39) |
S115P |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
| Ttll6 |
T |
A |
11: 96,026,573 (GRCm39) |
M119K |
probably damaging |
Het |
| Ufl1 |
C |
A |
4: 25,251,971 (GRCm39) |
C568F |
probably damaging |
Het |
| Usp29 |
A |
T |
7: 6,965,155 (GRCm39) |
I333F |
probably benign |
Het |
| Vta1 |
G |
A |
10: 14,581,138 (GRCm39) |
T23M |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,773,325 (GRCm39) |
D1771G |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation