Incidental Mutation 'R8867:Ift122'
ID |
676007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift122
|
Ensembl Gene |
ENSMUSG00000030323 |
Gene Name |
intraflagellar transport 122 |
Synonyms |
C86139, sopb, Wdr10 |
MMRRC Submission |
068682-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8867 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115857632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 126
(V126E)
|
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: V126E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045468 Gene: ENSMUSG00000030323 AA Change: V126E
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 |
|
SMART Domains |
Protein: ENSMUSP00000108545 Gene: ENSMUSG00000030323 AA Change: V126E
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: V126E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108547 Gene: ENSMUSG00000030323 AA Change: V126E
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: ENSMUST00000141305
AA Change: V126E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138535 Gene: ENSMUSG00000030323 AA Change: V126E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
99% (78/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
G |
A |
4: 73,861,087 (GRCm39) |
S171F |
probably damaging |
Het |
A130010J15Rik |
T |
C |
1: 192,857,406 (GRCm39) |
S253P |
probably damaging |
Het |
Acbd5 |
T |
C |
2: 22,970,370 (GRCm39) |
M97T |
possibly damaging |
Het |
Aire |
T |
C |
10: 77,873,809 (GRCm39) |
E300G |
probably damaging |
Het |
Ano1 |
A |
G |
7: 144,223,397 (GRCm39) |
S99P |
possibly damaging |
Het |
Ap5z1 |
A |
G |
5: 142,463,011 (GRCm39) |
N732D |
probably benign |
Het |
Apcs |
A |
T |
1: 172,722,004 (GRCm39) |
L114Q |
possibly damaging |
Het |
Apmap |
T |
C |
2: 150,431,886 (GRCm39) |
|
probably benign |
Het |
Ark2c |
T |
C |
18: 77,563,182 (GRCm39) |
E159G |
possibly damaging |
Het |
Asxl3 |
C |
A |
18: 22,649,547 (GRCm39) |
T512N |
possibly damaging |
Het |
Atp1a4 |
T |
C |
1: 172,072,491 (GRCm39) |
T388A |
probably damaging |
Het |
B3galt9 |
A |
G |
2: 34,728,636 (GRCm39) |
D145G |
probably damaging |
Het |
Bcl2a1a |
A |
T |
9: 88,839,503 (GRCm39) |
I134L |
probably damaging |
Het |
Chd6 |
G |
A |
2: 160,862,989 (GRCm39) |
A444V |
probably benign |
Het |
Cmbl |
C |
A |
15: 31,582,073 (GRCm39) |
H23Q |
probably benign |
Het |
Cnnm2 |
T |
A |
19: 46,750,996 (GRCm39) |
I262N |
probably damaging |
Het |
Col6a3 |
C |
T |
1: 90,715,673 (GRCm39) |
R2260H |
unknown |
Het |
Cracr2a |
T |
A |
6: 127,606,736 (GRCm39) |
L260* |
probably null |
Het |
Csmd2 |
A |
G |
4: 128,451,469 (GRCm39) |
Y3409C |
|
Het |
Cyp4b1 |
C |
T |
4: 115,493,169 (GRCm39) |
R225H |
possibly damaging |
Het |
Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
Dnah6 |
A |
G |
6: 72,998,131 (GRCm39) |
L4097P |
probably damaging |
Het |
Dppa3 |
G |
A |
6: 122,605,602 (GRCm39) |
R52Q |
probably benign |
Het |
Fbxo31 |
C |
T |
8: 122,281,967 (GRCm39) |
R311H |
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,656,885 (GRCm39) |
R90G |
probably damaging |
Het |
Fitm2 |
A |
T |
2: 163,311,602 (GRCm39) |
W204R |
possibly damaging |
Het |
Gatb |
T |
A |
3: 85,511,716 (GRCm39) |
L157H |
probably damaging |
Het |
Gm5111 |
G |
A |
6: 48,566,629 (GRCm39) |
|
probably null |
Het |
Gm7298 |
A |
C |
6: 121,748,788 (GRCm39) |
I688L |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,422,275 (GRCm39) |
|
probably null |
Het |
Iqcf6 |
A |
T |
9: 106,504,698 (GRCm39) |
I121F |
possibly damaging |
Het |
Kif21a |
A |
G |
15: 90,852,382 (GRCm39) |
V902A |
probably damaging |
Het |
Klhl38 |
T |
C |
15: 58,178,435 (GRCm39) |
M512V |
probably benign |
Het |
Klk1b1 |
A |
C |
7: 43,619,747 (GRCm39) |
N102T |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,923,996 (GRCm39) |
L468Q |
probably damaging |
Het |
Lilra5 |
A |
T |
7: 4,241,165 (GRCm39) |
Q34L |
possibly damaging |
Het |
Lrrc7 |
T |
A |
3: 157,867,521 (GRCm39) |
D740V |
probably damaging |
Het |
Mapk7 |
G |
T |
11: 61,384,632 (GRCm39) |
P25T |
probably benign |
Het |
Mcm3ap |
C |
A |
10: 76,306,538 (GRCm39) |
A217D |
probably benign |
Het |
Mucl3 |
A |
T |
17: 35,948,872 (GRCm39) |
F242L |
probably benign |
Het |
Ncaph2 |
A |
G |
15: 89,254,605 (GRCm39) |
E406G |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,179,739 (GRCm39) |
I69V |
unknown |
Het |
Nfatc3 |
A |
G |
8: 106,805,640 (GRCm39) |
S170G |
probably damaging |
Het |
Nptn |
G |
A |
9: 58,526,264 (GRCm39) |
R137Q |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,430,570 (GRCm39) |
K1581N |
probably damaging |
Het |
Or1q1 |
T |
C |
2: 36,887,691 (GRCm39) |
Y290H |
probably damaging |
Het |
Or2t43 |
A |
G |
11: 58,457,562 (GRCm39) |
L203P |
probably damaging |
Het |
Or51l4 |
G |
A |
7: 103,403,893 (GRCm39) |
Q300* |
probably null |
Het |
Or52ab2 |
T |
A |
7: 102,970,449 (GRCm39) |
L277Q |
|
Het |
Or5be3 |
G |
T |
2: 86,863,803 (GRCm39) |
T254K |
probably damaging |
Het |
Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
Pdcl |
T |
C |
2: 37,242,348 (GRCm39) |
E134G |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,283,576 (GRCm39) |
Y738N |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,792,807 (GRCm39) |
D1498G |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,310,079 (GRCm39) |
N1029D |
probably benign |
Het |
Ppp3cb |
C |
A |
14: 20,596,517 (GRCm39) |
|
probably benign |
Het |
Prkn |
A |
G |
17: 11,456,448 (GRCm39) |
T91A |
probably benign |
Het |
Rgs18 |
T |
A |
1: 144,629,698 (GRCm39) |
D187V |
probably damaging |
Het |
Ripor2 |
C |
T |
13: 24,822,760 (GRCm39) |
|
probably benign |
Het |
Rpl3l |
G |
A |
17: 24,954,455 (GRCm39) |
G172D |
probably damaging |
Het |
Sdf4 |
A |
G |
4: 156,093,759 (GRCm39) |
T298A |
probably damaging |
Het |
Skic3 |
C |
T |
13: 76,279,428 (GRCm39) |
S620L |
probably damaging |
Het |
Slc17a3 |
T |
C |
13: 24,039,943 (GRCm39) |
V327A |
|
Het |
Slc4a1ap |
T |
A |
5: 31,708,059 (GRCm39) |
F677L |
probably benign |
Het |
Stoml2 |
A |
G |
4: 43,028,256 (GRCm39) |
V324A |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,989,620 (GRCm39) |
Q1833R |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,534,371 (GRCm39) |
N481D |
possibly damaging |
Het |
Tert |
T |
C |
13: 73,776,566 (GRCm39) |
M439T |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,338,686 (GRCm39) |
D1181E |
|
Het |
Tln2 |
G |
A |
9: 67,237,832 (GRCm39) |
T33I |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,633,481 (GRCm39) |
S872P |
probably benign |
Het |
Trim10 |
T |
C |
17: 37,181,048 (GRCm39) |
L93P |
probably benign |
Het |
Trpc7 |
C |
T |
13: 57,008,746 (GRCm39) |
S307N |
probably benign |
Het |
Ttn |
A |
T |
2: 76,640,427 (GRCm39) |
V13727E |
probably damaging |
Het |
Vmn1r220 |
T |
C |
13: 23,368,271 (GRCm39) |
S142G |
probably benign |
Het |
Vmn1r32 |
A |
G |
6: 66,530,651 (GRCm39) |
S42P |
probably damaging |
Het |
Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
Zfp683 |
C |
T |
4: 133,785,995 (GRCm39) |
T374I |
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 |
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 |
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'- ACTTGGCTAGAGAACTTCACC -3'
(R):5'- GAAACACGGGAAGCCTATCC -3'
Sequencing Primer
(F):5'- AGTCACATGTGCAGTGTACC -3'
(R):5'- AAGCCTATCCCAGCTGGC -3'
|
Posted On |
2021-07-15 |