Incidental Mutation 'R1670:Ift122'
| ID |
187545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift122
|
| Ensembl Gene |
ENSMUSG00000030323 |
| Gene Name |
intraflagellar transport 122 |
| Synonyms |
C86139, sopb, Wdr10 |
| MMRRC Submission |
039706-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1670 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115900844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1054
(V1054A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038234]
[ENSMUST00000112923]
[ENSMUST00000112925]
[ENSMUST00000141305]
|
| AlphaFold |
Q6NWV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038234
AA Change: V996A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: V996A
| 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: ENSMUST00000112923
AA Change: V1054A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: V1054A
| 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: V995A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: V995A
| 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 |
noncoding transcript
Transcript: ENSMUST00000124283
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155565
|
| Meta Mutation Damage Score |
0.0905 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
97% (74/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,540,448 (GRCm39) |
V1497A |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,255,817 (GRCm39) |
|
probably benign |
Het |
| Angel2 |
T |
A |
1: 190,674,360 (GRCm39) |
S371T |
probably benign |
Het |
| Atr |
T |
A |
9: 95,743,509 (GRCm39) |
N49K |
probably benign |
Het |
| Bace2 |
G |
A |
16: 97,213,335 (GRCm39) |
M228I |
probably damaging |
Het |
| Bdp1 |
A |
C |
13: 100,163,941 (GRCm39) |
|
probably null |
Het |
| Calr |
A |
T |
8: 85,570,748 (GRCm39) |
D302E |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,164,228 (GRCm39) |
D340G |
probably benign |
Het |
| Car11 |
C |
T |
7: 45,352,949 (GRCm39) |
T236I |
possibly damaging |
Het |
| Cfap69 |
A |
T |
5: 5,636,409 (GRCm39) |
S275T |
probably benign |
Het |
| Cib2 |
G |
A |
9: 54,455,653 (GRCm39) |
R104W |
probably damaging |
Het |
| CN725425 |
T |
C |
15: 91,130,018 (GRCm39) |
S294P |
possibly damaging |
Het |
| Coro7 |
G |
A |
16: 4,446,097 (GRCm39) |
S876F |
possibly damaging |
Het |
| Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
| Dennd6b |
C |
A |
15: 89,069,540 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,341 (GRCm39) |
Y979N |
possibly damaging |
Het |
| Dnaaf9 |
G |
A |
2: 130,554,299 (GRCm39) |
P187S |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,944,098 (GRCm39) |
I1772F |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 6,993,942 (GRCm39) |
I3976N |
possibly damaging |
Het |
| Ebi3 |
T |
C |
17: 56,261,479 (GRCm39) |
I125T |
probably damaging |
Het |
| Elfn2 |
C |
T |
15: 78,556,568 (GRCm39) |
A660T |
probably benign |
Het |
| F12 |
C |
T |
13: 55,569,346 (GRCm39) |
C209Y |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
A |
7: 129,782,187 (GRCm39) |
D413V |
probably damaging |
Het |
| Gdf10 |
T |
A |
14: 33,654,000 (GRCm39) |
I169N |
possibly damaging |
Het |
| Gdnf |
T |
C |
15: 7,845,130 (GRCm39) |
V41A |
probably benign |
Het |
| Gm9857 |
A |
T |
3: 108,847,478 (GRCm39) |
|
probably benign |
Het |
| Gpatch11 |
A |
G |
17: 79,146,529 (GRCm39) |
E58G |
possibly damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,137 (GRCm39) |
V148A |
possibly damaging |
Het |
| Gucy1b1 |
A |
G |
3: 81,952,767 (GRCm39) |
I222T |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,404,496 (GRCm39) |
S227P |
probably damaging |
Het |
| Hsfy2 |
A |
G |
1: 56,675,548 (GRCm39) |
S330P |
possibly damaging |
Het |
| Hycc1 |
T |
A |
5: 24,204,989 (GRCm39) |
M1L |
possibly damaging |
Het |
| Il27 |
T |
A |
7: 126,188,647 (GRCm39) |
E175D |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,730,641 (GRCm39) |
S12T |
probably damaging |
Het |
| Lrfn2 |
T |
C |
17: 49,403,605 (GRCm39) |
V576A |
probably benign |
Het |
| Mansc4 |
C |
G |
6: 146,976,689 (GRCm39) |
R309T |
possibly damaging |
Het |
| Med12l |
AACAGCA |
AACAGCAACAGCA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
| Mrpl16 |
C |
T |
19: 11,751,959 (GRCm39) |
R240* |
probably null |
Het |
| Muc17 |
A |
G |
5: 137,172,843 (GRCm39) |
V70A |
probably benign |
Het |
| Ndnf |
A |
G |
6: 65,680,054 (GRCm39) |
D111G |
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,704,384 (GRCm39) |
F688S |
probably damaging |
Het |
| Nkx2-6 |
T |
A |
14: 69,412,126 (GRCm39) |
M98K |
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,230,667 (GRCm39) |
S1402P |
probably benign |
Het |
| Or10j2 |
T |
A |
1: 173,098,467 (GRCm39) |
S242T |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,237 (GRCm39) |
S192T |
probably damaging |
Het |
| Or4f14b |
C |
T |
2: 111,775,264 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or52i2 |
A |
G |
7: 102,319,609 (GRCm39) |
T161A |
possibly damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,607 (GRCm39) |
N88K |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,790 (GRCm39) |
I91M |
possibly damaging |
Het |
| Or5m9b |
T |
A |
2: 85,905,594 (GRCm39) |
V170D |
probably benign |
Het |
| Parp10 |
A |
T |
15: 76,126,270 (GRCm39) |
V306E |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,723,343 (GRCm39) |
L1284P |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,103,389 (GRCm39) |
I365F |
probably benign |
Het |
| Pnisr |
A |
G |
4: 21,865,893 (GRCm39) |
D294G |
probably damaging |
Het |
| Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
| Ptprn2 |
A |
C |
12: 116,685,792 (GRCm39) |
T84P |
possibly damaging |
Het |
| Rln1 |
C |
T |
19: 29,309,468 (GRCm39) |
E104K |
possibly damaging |
Het |
| Rnf38 |
A |
G |
4: 44,138,681 (GRCm39) |
S271P |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,368,660 (GRCm39) |
T398A |
probably benign |
Het |
| Rprd2 |
G |
T |
3: 95,672,115 (GRCm39) |
T1096K |
probably damaging |
Het |
| Sema3e |
C |
T |
5: 14,212,199 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,548,945 (GRCm39) |
C140S |
probably damaging |
Het |
| Shpk |
A |
C |
11: 73,113,757 (GRCm39) |
D390A |
probably benign |
Het |
| Slc22a20 |
C |
T |
19: 6,022,876 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
A |
G |
5: 5,727,393 (GRCm39) |
V314A |
possibly damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,111,289 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
G |
T |
2: 129,883,688 (GRCm39) |
E449* |
probably null |
Het |
| Tmem68 |
A |
C |
4: 3,560,627 (GRCm39) |
L186V |
probably damaging |
Het |
| Ttc41 |
T |
A |
10: 86,612,116 (GRCm39) |
W1130R |
possibly damaging |
Het |
| Ttpal |
T |
C |
2: 163,457,286 (GRCm39) |
F253L |
possibly damaging |
Het |
| Vmn2r99 |
G |
T |
17: 19,582,514 (GRCm39) |
V40F |
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,771,167 (GRCm39) |
V228M |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,661,268 (GRCm39) |
A369V |
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 |
|
|
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 |
|
|
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'- TGCACTGGGATAGACTGGGTTCTTC -3'
(R):5'- GCATCACCTTCTGCACAATGTCAC -3'
Sequencing Primer
(F):5'- gctttcagtgcctcagtttc -3'
(R):5'- ACGTGTCTGTAAAGCAGTGG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation