Incidental Mutation 'R9573:Ift122'
| ID |
722113 |
| 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 # |
R9573 (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 G
at 115857646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 131
(S131A)
|
| 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: S131A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: S131A
| 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: S131A
| 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: S131A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: S131A
| 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 |
possibly damaging
Transcript: ENSMUST00000141305
AA Change: S131A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138535
Gene: ENSMUSG00000030323
AA Change: S131A
| 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 |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,050,229 (GRCm39) |
V472E |
probably damaging |
Het |
| Ak3 |
T |
C |
19: 29,003,667 (GRCm39) |
I170V |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,791,977 (GRCm39) |
L1058* |
probably null |
Het |
| Ankrd60 |
A |
G |
2: 173,410,791 (GRCm39) |
V243A |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Arid3c |
T |
G |
4: 41,726,003 (GRCm39) |
E200A |
probably benign |
Het |
| Astn2 |
T |
G |
4: 65,566,591 (GRCm39) |
I856L |
probably benign |
Het |
| Bcs1l |
C |
A |
1: 74,629,492 (GRCm39) |
R177S |
probably damaging |
Het |
| Bin2 |
A |
T |
15: 100,560,433 (GRCm39) |
F43I |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,600,544 (GRCm39) |
L691P |
probably damaging |
Het |
| Bud23 |
C |
T |
5: 135,082,274 (GRCm39) |
V266I |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,354,629 (GRCm39) |
I333L |
probably benign |
Het |
| Cavin2 |
T |
A |
1: 51,328,795 (GRCm39) |
I84N |
probably damaging |
Het |
| Ccdc168 |
A |
C |
1: 44,095,307 (GRCm39) |
Y1930* |
probably null |
Het |
| Ccdc196 |
A |
T |
12: 78,244,098 (GRCm39) |
N17I |
|
Het |
| Cep170b |
T |
A |
12: 112,691,154 (GRCm39) |
F24I |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,704,302 (GRCm39) |
Y719C |
unknown |
Het |
| Commd7 |
A |
G |
2: 153,463,981 (GRCm39) |
M137T |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,657,910 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
C |
14: 26,414,619 (GRCm39) |
T7P |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,373,094 (GRCm39) |
I548N |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,292,247 (GRCm39) |
L7Q |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,802,662 (GRCm39) |
V477M |
probably damaging |
Het |
| Glis2 |
C |
T |
16: 4,429,505 (GRCm39) |
R211C |
probably damaging |
Het |
| Gm4744 |
A |
T |
6: 40,925,497 (GRCm39) |
V122D |
|
Het |
| Gm4952 |
G |
A |
19: 12,604,090 (GRCm39) |
M167I |
probably benign |
Het |
| Hyal4 |
T |
C |
6: 24,756,508 (GRCm39) |
V242A |
possibly damaging |
Het |
| Il4ra |
T |
A |
7: 125,169,158 (GRCm39) |
S137T |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,573,471 (GRCm39) |
L742Q |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,538,185 (GRCm39) |
K315R |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,979,774 (GRCm39) |
Y1258H |
probably damaging |
Het |
| Mapk9 |
A |
T |
11: 49,769,239 (GRCm39) |
K290N |
probably damaging |
Het |
| Mfhas1 |
C |
T |
8: 36,143,903 (GRCm39) |
H1045Y |
possibly damaging |
Het |
| Ndufaf7 |
C |
A |
17: 79,246,036 (GRCm39) |
Q90K |
probably damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,771,841 (GRCm39) |
V157E |
probably benign |
Het |
| Npas4 |
A |
G |
19: 5,035,837 (GRCm39) |
F776L |
probably benign |
Het |
| Nuggc |
A |
C |
14: 65,848,603 (GRCm39) |
D184A |
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,066,678 (GRCm39) |
E795G |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,509 (GRCm39) |
I189T |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,748,940 (GRCm39) |
I98L |
probably benign |
Het |
| Pcbp1 |
A |
T |
6: 86,502,677 (GRCm39) |
M74K |
possibly damaging |
Het |
| Plk4 |
A |
G |
3: 40,763,257 (GRCm39) |
D476G |
probably benign |
Het |
| Prox2 |
G |
A |
12: 85,141,766 (GRCm39) |
Q146* |
probably null |
Het |
| Rab44 |
A |
T |
17: 29,364,277 (GRCm39) |
Y617F |
unknown |
Het |
| Rabepk |
T |
C |
2: 34,675,627 (GRCm39) |
R168G |
probably benign |
Het |
| Rbmyf9 |
T |
A |
Y: 3,775,370 (GRCm39) |
M40K |
possibly damaging |
Het |
| Rif1 |
T |
G |
2: 52,000,466 (GRCm39) |
S1307A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,265,467 (GRCm39) |
V542I |
probably benign |
Het |
| Rtp1 |
A |
G |
16: 23,250,159 (GRCm39) |
I175V |
possibly damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,304,225 (GRCm39) |
I158F |
probably damaging |
Het |
| Slc24a3 |
T |
G |
2: 145,455,548 (GRCm39) |
M479R |
probably damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,668,589 (GRCm39) |
F723S |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,927,134 (GRCm39) |
N93K |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,057,599 (GRCm39) |
Q846R |
probably damaging |
Het |
| Tas2r116 |
A |
C |
6: 132,833,140 (GRCm39) |
H247P |
probably benign |
Het |
| Tcstv3 |
T |
C |
13: 120,779,130 (GRCm39) |
S10P |
probably damaging |
Het |
| Tgm7 |
T |
C |
2: 120,934,606 (GRCm39) |
N124S |
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,490,933 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tnfrsf18 |
G |
A |
4: 156,112,484 (GRCm39) |
G114S |
possibly damaging |
Het |
| Trim38 |
G |
A |
13: 23,966,688 (GRCm39) |
C45Y |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,032,404 (GRCm39) |
E668G |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,148,450 (GRCm39) |
M382K |
|
Het |
| Vps39 |
T |
C |
2: 120,155,179 (GRCm39) |
E549G |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,078,014 (GRCm39) |
G1135D |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,548 (GRCm39) |
L388P |
probably benign |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,307 (GRCm39) |
M214K |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,602,936 (GRCm39) |
E627K |
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 |
|
|
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 |
|
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'- GGCTAGAGAACTTCACCATCTACC -3'
(R):5'- AGCCTTTCCCATCAAGGAGAC -3'
Sequencing Primer
(F):5'- AGTCACATGTGCAGTGTACC -3'
(R):5'- TTTCCCATCAAGGAGACCAGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation