Incidental Mutation 'R3800:Ift122'
ID |
272923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift122
|
Ensembl Gene |
ENSMUSG00000030323 |
Gene Name |
intraflagellar transport 122 |
Synonyms |
C86139, sopb, Wdr10 |
MMRRC Submission |
040759-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3800 (G1)
|
Quality Score |
173 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115902867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1209
(S1209T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108545
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038234]
[ENSMUST00000112923]
[ENSMUST00000112925]
[ENSMUST00000141305]
|
AlphaFold |
Q6NWV3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038234
AA Change: S1151T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000045468 Gene: ENSMUSG00000030323 AA Change: S1151T
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
AA Change: S1209T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000108545 Gene: ENSMUSG00000030323 AA Change: S1209T
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
AA Change: S1150T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000108547 Gene: ENSMUSG00000030323 AA Change: S1150T
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
95% (52/55) |
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 |
3425401B19Rik |
G |
T |
14: 32,385,025 (GRCm39) |
D313E |
possibly damaging |
Het |
Abca12 |
C |
T |
1: 71,305,046 (GRCm39) |
V2070I |
probably damaging |
Het |
Adam23 |
C |
T |
1: 63,590,933 (GRCm39) |
R467* |
probably null |
Het |
Adgrf5 |
T |
C |
17: 43,757,951 (GRCm39) |
|
probably benign |
Het |
Aire |
A |
G |
10: 77,877,889 (GRCm39) |
|
probably null |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,180,031 (GRCm39) |
D268G |
probably damaging |
Het |
Btbd9 |
T |
C |
17: 30,732,633 (GRCm39) |
I351V |
possibly damaging |
Het |
Cacna1b |
C |
T |
2: 24,548,971 (GRCm39) |
R1138Q |
probably benign |
Het |
Caskin1 |
T |
G |
17: 24,720,246 (GRCm39) |
V456G |
probably benign |
Het |
Ccdc96 |
A |
G |
5: 36,643,611 (GRCm39) |
D539G |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,408,803 (GRCm39) |
I2425T |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,392,784 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
C |
A |
10: 76,903,221 (GRCm39) |
G998* |
probably null |
Het |
Cpe |
A |
G |
8: 65,070,651 (GRCm39) |
V198A |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,344,887 (GRCm39) |
M364T |
probably damaging |
Het |
Dock8 |
T |
A |
19: 25,141,716 (GRCm39) |
N1396K |
probably benign |
Het |
Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
Eif1ad19 |
T |
C |
12: 87,740,491 (GRCm39) |
K23E |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,035,423 (GRCm39) |
V3025E |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,187,894 (GRCm39) |
D1545V |
possibly damaging |
Het |
Fbxw16 |
T |
G |
9: 109,265,665 (GRCm39) |
I385L |
probably damaging |
Het |
Fnbp1 |
T |
C |
2: 30,923,143 (GRCm39) |
E341G |
probably damaging |
Het |
Gm9845 |
T |
C |
3: 39,412,642 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
T |
C |
3: 63,889,866 (GRCm39) |
Y82H |
possibly damaging |
Het |
Habp4 |
C |
T |
13: 64,321,917 (GRCm39) |
R185C |
probably damaging |
Het |
Ino80c |
T |
C |
18: 24,254,752 (GRCm39) |
Y36C |
probably damaging |
Het |
Inpp5b |
C |
T |
4: 124,679,138 (GRCm39) |
T515I |
probably damaging |
Het |
Kcnj6 |
G |
A |
16: 94,633,886 (GRCm39) |
T75M |
probably damaging |
Het |
Map2k4 |
A |
T |
11: 65,581,607 (GRCm39) |
Y368* |
probably null |
Het |
Mbd6 |
A |
G |
10: 127,121,036 (GRCm39) |
|
probably benign |
Het |
Mccc1 |
G |
A |
3: 36,054,658 (GRCm39) |
R17W |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Ncoa3 |
T |
C |
2: 165,901,639 (GRCm39) |
M1004T |
possibly damaging |
Het |
Npnt |
C |
A |
3: 132,612,524 (GRCm39) |
G87V |
probably damaging |
Het |
Or10a4 |
C |
T |
7: 106,696,938 (GRCm39) |
Q89* |
probably null |
Het |
Or14j1 |
T |
G |
17: 38,146,848 (GRCm39) |
N319K |
probably benign |
Het |
Ppp2r1a |
A |
T |
17: 21,182,972 (GRCm39) |
D552V |
possibly damaging |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rnf34 |
A |
G |
5: 123,002,273 (GRCm39) |
H77R |
probably damaging |
Het |
Samm50 |
T |
C |
15: 84,076,575 (GRCm39) |
V4A |
probably damaging |
Het |
Sdccag8 |
A |
T |
1: 176,695,904 (GRCm39) |
R403* |
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Senp6 |
A |
G |
9: 79,994,735 (GRCm39) |
R25G |
possibly damaging |
Het |
Shc2 |
C |
T |
10: 79,462,707 (GRCm39) |
V272I |
probably benign |
Het |
Smarcd3 |
T |
A |
5: 24,798,225 (GRCm39) |
K403* |
probably null |
Het |
Srgap2 |
T |
A |
1: 131,238,297 (GRCm39) |
I672F |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,582,941 (GRCm39) |
V22651I |
probably damaging |
Het |
Ubash3a |
T |
C |
17: 31,450,444 (GRCm39) |
V373A |
probably benign |
Het |
Vav3 |
A |
G |
3: 109,535,355 (GRCm39) |
K36E |
probably benign |
Het |
Vmn2r65 |
A |
G |
7: 84,589,738 (GRCm39) |
V726A |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATATCGCCCATGTACACC -3'
(R):5'- ACAGGTAGAGCATCCCTCACTC -3'
Sequencing Primer
(F):5'- GCCCATGTACACCTCCCC -3'
(R):5'- TGCAGAGCAGGAACCAGC -3'
|
Posted On |
2015-03-25 |