Incidental Mutation 'R7379:Ift122'
| ID |
572575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift122
|
| Ensembl Gene |
ENSMUSG00000030323 |
| Gene Name |
intraflagellar transport 122 |
| Synonyms |
C86139, sopb, Wdr10 |
| MMRRC Submission |
045461-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7379 (G1)
|
| Quality Score |
208.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115903263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1176
(R1176C)
|
| 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: R1177C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: R1177C
| 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: R1235C
| 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: R1176C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: R1176C
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
G |
A |
17: 66,292,242 (GRCm39) |
R1064* |
probably null |
Het |
| Ccdc149 |
A |
G |
5: 52,562,408 (GRCm39) |
I206T |
probably damaging |
Het |
| Ctu1 |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
7: 43,326,490 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,414,183 (GRCm39) |
T361A |
probably damaging |
Het |
| Cyp4a14 |
A |
T |
4: 115,350,907 (GRCm39) |
|
probably null |
Het |
| Cyp7b1 |
A |
G |
3: 18,151,538 (GRCm39) |
V225A |
probably benign |
Het |
| Esf1 |
A |
G |
2: 139,996,854 (GRCm39) |
I503T |
probably benign |
Het |
| Flrt2 |
G |
A |
12: 95,747,329 (GRCm39) |
V556I |
possibly damaging |
Het |
| Gaa |
T |
C |
11: 119,174,525 (GRCm39) |
S791P |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,353,232 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,672 (GRCm39) |
S342P |
probably damaging |
Het |
| Ift57 |
A |
G |
16: 49,581,357 (GRCm39) |
E341G |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,194 (GRCm39) |
I240K |
probably benign |
Het |
| Kit |
A |
T |
5: 75,808,412 (GRCm39) |
S719C |
probably damaging |
Het |
| Klf1 |
T |
A |
8: 85,629,846 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,709 (GRCm39) |
E387G |
probably damaging |
Het |
| L3mbtl1 |
T |
A |
2: 162,802,899 (GRCm39) |
D347E |
probably damaging |
Het |
| Map1s |
A |
G |
8: 71,366,219 (GRCm39) |
T375A |
possibly damaging |
Het |
| Mturn |
A |
G |
6: 54,666,069 (GRCm39) |
T81A |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,024,446 (GRCm39) |
E506G |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,369,479 (GRCm39) |
F512S |
probably damaging |
Het |
| Or10g1 |
T |
C |
14: 52,647,718 (GRCm39) |
T204A |
probably benign |
Het |
| Or12e13 |
T |
A |
2: 87,664,123 (GRCm39) |
C247S |
probably damaging |
Het |
| Or4c12b |
T |
A |
2: 89,647,033 (GRCm39) |
V115E |
probably benign |
Het |
| Or9s14 |
G |
T |
1: 92,536,189 (GRCm39) |
C210F |
possibly damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,619 (GRCm39) |
N127D |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,502,983 (GRCm39) |
I1148V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,212,430 (GRCm39) |
D1007G |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,316 (GRCm39) |
E37V |
probably damaging |
Het |
| Prss45 |
C |
A |
9: 110,668,261 (GRCm39) |
N151K |
possibly damaging |
Het |
| Rngtt |
A |
T |
4: 33,498,981 (GRCm39) |
K513* |
probably null |
Het |
| Serpinb10 |
T |
C |
1: 107,460,117 (GRCm39) |
|
probably benign |
Het |
| Shc1 |
T |
C |
3: 89,334,129 (GRCm39) |
V402A |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,949,902 (GRCm39) |
L227Q |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,313,798 (GRCm39) |
K514* |
probably null |
Het |
| Sorcs3 |
T |
C |
19: 48,760,705 (GRCm39) |
V911A |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,657,651 (GRCm39) |
I1290N |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,089,292 (GRCm39) |
K657E |
possibly damaging |
Het |
| Stpg4 |
T |
A |
17: 87,735,068 (GRCm39) |
|
probably null |
Het |
| Stx2 |
A |
G |
5: 129,064,863 (GRCm39) |
V278A |
possibly damaging |
Het |
| Thoc1 |
A |
T |
18: 9,992,902 (GRCm39) |
N558I |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,750,568 (GRCm39) |
T1343A |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,040,939 (GRCm39) |
D1806E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,037 (GRCm39) |
M787I |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,873,566 (GRCm39) |
S248P |
|
Het |
| Zeb2 |
G |
T |
2: 44,891,829 (GRCm39) |
|
probably null |
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 |
|
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'- AGGGATGCTCTACCTGTGAAC -3'
(R):5'- CCTGGTGCTATTTACAAGGAATG -3'
Sequencing Primer
(F):5'- TGAACCTCATTCAGATAAAGAGCC -3'
(R):5'- TTCTCCCAACAGTCTGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation