Incidental Mutation 'R9677:Ift122'
| ID |
728374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift122
|
| Ensembl Gene |
ENSMUSG00000030323 |
| Gene Name |
intraflagellar transport 122 |
| Synonyms |
C86139, sopb, Wdr10 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115897357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 919
(S919T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038234]
[ENSMUST00000112923]
[ENSMUST00000112925]
[ENSMUST00000141305]
|
| AlphaFold |
Q6NWV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038234
AA Change: S920T
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: S920T
| 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: S978T
| 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: S919T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: S919T
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,636 (GRCm39) |
T320A |
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,580,007 (GRCm39) |
I180N |
possibly damaging |
Het |
| Chmp6 |
C |
T |
11: 119,806,459 (GRCm39) |
R59* |
probably null |
Het |
| Cisd2 |
T |
A |
3: 135,129,044 (GRCm39) |
I27F |
possibly damaging |
Het |
| Col3a1 |
C |
T |
1: 45,369,727 (GRCm39) |
P336S |
unknown |
Het |
| Ctps1 |
G |
T |
4: 120,410,092 (GRCm39) |
H330Q |
probably benign |
Het |
| Ddx52 |
A |
G |
11: 83,836,946 (GRCm39) |
N146D |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,029,821 (GRCm39) |
I495V |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,425,098 (GRCm39) |
D2139E |
|
Het |
| Fam169b |
A |
G |
7: 67,954,388 (GRCm39) |
D79G |
probably benign |
Het |
| Hspa1b |
C |
A |
17: 35,177,860 (GRCm39) |
V42L |
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,497,539 (GRCm39) |
L119S |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,968,427 (GRCm39) |
V10F |
probably benign |
Het |
| Med26 |
A |
T |
8: 73,249,930 (GRCm39) |
Y390N |
probably damaging |
Het |
| Nup50 |
A |
G |
15: 84,819,479 (GRCm39) |
E251G |
possibly damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,161 (GRCm39) |
D178E |
possibly damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,518 (GRCm39) |
D50V |
probably damaging |
Het |
| Rab30 |
G |
A |
7: 92,469,245 (GRCm39) |
G16D |
probably damaging |
Het |
| Rbis |
A |
G |
3: 14,674,674 (GRCm39) |
V56A |
probably damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,834,246 (GRCm39) |
M756V |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,215,125 (GRCm39) |
D3193G |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,434,179 (GRCm39) |
K136R |
probably benign |
Het |
| Tmem220 |
G |
T |
11: 66,925,011 (GRCm39) |
V173L |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,917,878 (GRCm39) |
P2264S |
possibly damaging |
Het |
| Uba6 |
G |
A |
5: 86,265,910 (GRCm39) |
P999L |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,332 (GRCm39) |
T391A |
|
Het |
| Vmn2r80 |
T |
C |
10: 78,984,672 (GRCm39) |
F8S |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,909,712 (GRCm39) |
L150* |
probably null |
Het |
| Zmym2 |
T |
C |
14: 57,187,115 (GRCm39) |
V1093A |
probably benign |
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 |
|
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 |
|
|
Z1176:Ift122
|
UTSW |
6 |
115,892,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGAAAGCTAGTGGGGCC -3'
(R):5'- CAGGATTGCAGACTAGGCACAG -3'
Sequencing Primer
(F):5'- AAGCTAGTGGGGCCAGCTG -3'
(R):5'- TTGCAGACTAGGCACAGCTAGAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation