Incidental Mutation 'R7978:Ift122'
ID |
651028 |
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 # |
R7978 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115897313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 904
(E904G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038234]
[ENSMUST00000112923]
[ENSMUST00000112925]
[ENSMUST00000141305]
|
AlphaFold |
Q6NWV3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038234
AA Change: E905G
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000045468 Gene: ENSMUSG00000030323 AA Change: E905G
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: E963G
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: E904G
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108547 Gene: ENSMUSG00000030323 AA Change: E904G
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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,036,515 (GRCm39) |
I342N |
probably damaging |
Het |
Alb |
A |
T |
5: 90,619,932 (GRCm39) |
N453I |
possibly damaging |
Het |
Aox4 |
C |
A |
1: 58,274,366 (GRCm39) |
S384Y |
probably damaging |
Het |
Ap1g1 |
C |
T |
8: 110,564,399 (GRCm39) |
R315* |
probably null |
Het |
Cachd1 |
T |
C |
4: 100,832,060 (GRCm39) |
Y741H |
probably damaging |
Het |
Cacna2d2 |
C |
G |
9: 107,395,456 (GRCm39) |
L661V |
probably benign |
Het |
Ccdc90b |
T |
A |
7: 92,216,921 (GRCm39) |
H64Q |
probably damaging |
Het |
Ccdc93 |
C |
A |
1: 121,426,960 (GRCm39) |
N582K |
possibly damaging |
Het |
Cdh20 |
A |
G |
1: 109,921,835 (GRCm39) |
|
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,963,342 (GRCm39) |
N78D |
probably damaging |
Het |
Cttnbp2nl |
A |
G |
3: 104,915,307 (GRCm39) |
V132A |
probably damaging |
Het |
Cwc25 |
G |
A |
11: 97,644,044 (GRCm39) |
Q230* |
probably null |
Het |
Dsel |
G |
A |
1: 111,787,449 (GRCm39) |
R1029* |
probably null |
Het |
Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
Fam120a |
T |
C |
13: 49,055,750 (GRCm39) |
Y646C |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,146,968 (GRCm39) |
W576R |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,279,359 (GRCm39) |
N1787S |
probably benign |
Het |
Igkv17-121 |
C |
T |
6: 68,013,806 (GRCm39) |
T2I |
unknown |
Het |
Ino80 |
T |
G |
2: 119,269,874 (GRCm39) |
R590S |
possibly damaging |
Het |
Intu |
T |
A |
3: 40,652,069 (GRCm39) |
I842N |
probably damaging |
Het |
Itgae |
A |
T |
11: 73,024,913 (GRCm39) |
T1015S |
probably damaging |
Het |
Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
Kcna10 |
A |
G |
3: 107,101,663 (GRCm39) |
E98G |
probably damaging |
Het |
Kcnb2 |
T |
A |
1: 15,780,837 (GRCm39) |
Y570N |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,564,676 (GRCm39) |
I923V |
probably benign |
Het |
Kptn |
A |
G |
7: 15,859,697 (GRCm39) |
D307G |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,083,458 (GRCm39) |
Y704H |
probably damaging |
Het |
Or12d13 |
A |
G |
17: 37,647,392 (GRCm39) |
F244L |
probably benign |
Het |
Or4c100 |
T |
A |
2: 88,356,014 (GRCm39) |
L29* |
probably null |
Het |
Or4c58 |
A |
T |
2: 89,674,611 (GRCm39) |
C235* |
probably null |
Het |
Or4f59 |
T |
C |
2: 111,872,523 (GRCm39) |
T285A |
possibly damaging |
Het |
Pmel |
G |
A |
10: 128,551,819 (GRCm39) |
V218M |
probably damaging |
Het |
Prkar2b |
T |
C |
12: 32,013,024 (GRCm39) |
H364R |
possibly damaging |
Het |
Psd4 |
T |
C |
2: 24,294,867 (GRCm39) |
F809S |
probably damaging |
Het |
Rabgap1l |
A |
G |
1: 160,078,838 (GRCm39) |
S59P |
|
Het |
Rgr |
A |
G |
14: 36,766,645 (GRCm39) |
F134L |
probably benign |
Het |
Rspry1 |
G |
T |
8: 95,349,753 (GRCm39) |
R47L |
probably damaging |
Het |
Scd3 |
G |
T |
19: 44,222,688 (GRCm39) |
E113* |
probably null |
Het |
Slc22a12 |
G |
A |
19: 6,586,938 (GRCm39) |
A476V |
possibly damaging |
Het |
Smg1 |
T |
C |
7: 117,792,878 (GRCm39) |
E560G |
unknown |
Het |
Snx3 |
A |
G |
10: 42,378,346 (GRCm39) |
D7G |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Tbc1d12 |
A |
G |
19: 38,905,285 (GRCm39) |
M667V |
probably benign |
Het |
Tbc1d30 |
A |
T |
10: 121,142,104 (GRCm39) |
V81E |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,966,583 (GRCm39) |
I395F |
probably damaging |
Het |
Tes |
C |
A |
6: 17,096,322 (GRCm39) |
N103K |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,193,426 (GRCm39) |
Y336C |
possibly damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,287,726 (GRCm39) |
N491S |
probably damaging |
Het |
Tomt |
T |
C |
7: 101,549,554 (GRCm39) |
I245V |
probably damaging |
Het |
Trbc1 |
T |
C |
6: 41,515,236 (GRCm39) |
L28P |
|
Het |
Trp63 |
T |
C |
16: 25,639,436 (GRCm39) |
V208A |
unknown |
Het |
Ttll8 |
G |
T |
15: 88,799,565 (GRCm39) |
N625K |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,132,135 (GRCm39) |
W786R |
probably benign |
Het |
Vmn2r97 |
A |
T |
17: 19,167,854 (GRCm39) |
I703F |
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 |
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'- AGTTCGAATCTCCACTCTGC -3'
(R):5'- TGCCAGTAAAGTGCTCTGTG -3'
Sequencing Primer
(F):5'- CCCTAGTCTTCGAGTAACATGGG -3'
(R):5'- TGGAGCACTGGGGCCATTAG -3'
|
Posted On |
2020-09-15 |