Incidental Mutation 'R8493:Ift122'
| ID |
658116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift122
|
| Ensembl Gene |
ENSMUSG00000030323 |
| Gene Name |
intraflagellar transport 122 |
| Synonyms |
C86139, sopb, Wdr10 |
| MMRRC Submission |
067935-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8493 (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 115887292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 713
(I713N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038234]
[ENSMUST00000112923]
[ENSMUST00000112925]
[ENSMUST00000141305]
|
| AlphaFold |
Q6NWV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038234
AA Change: I713N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: I713N
| 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: I772N
| 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: I713N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: I713N
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,653,453 (GRCm39) |
M1L |
unknown |
Het |
| Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
| Ankrd10 |
C |
A |
8: 11,678,518 (GRCm39) |
E125* |
probably null |
Het |
| Apob |
A |
T |
12: 8,059,009 (GRCm39) |
D2497V |
possibly damaging |
Het |
| Arap1 |
G |
A |
7: 101,035,725 (GRCm39) |
W87* |
probably null |
Het |
| Arhgef37 |
C |
T |
18: 61,640,277 (GRCm39) |
V261I |
probably benign |
Het |
| Arl4a |
A |
C |
12: 40,086,472 (GRCm39) |
C92G |
probably benign |
Het |
| Arrdc2 |
C |
T |
8: 71,289,501 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
A |
C |
1: 87,706,704 (GRCm39) |
T355P |
probably damaging |
Het |
| Card14 |
T |
G |
11: 119,224,435 (GRCm39) |
|
probably null |
Het |
| Cd109 |
G |
A |
9: 78,564,801 (GRCm39) |
V249I |
probably benign |
Het |
| Cdhr4 |
A |
G |
9: 107,873,453 (GRCm39) |
D395G |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,822,207 (GRCm39) |
M1703I |
possibly damaging |
Het |
| Cfap157 |
A |
G |
2: 32,669,752 (GRCm39) |
I277T |
probably benign |
Het |
| Chst4 |
A |
G |
8: 110,757,095 (GRCm39) |
V173A |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,617,911 (GRCm39) |
N731D |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,278,936 (GRCm39) |
E1122G |
possibly damaging |
Het |
| Csf1r |
C |
G |
18: 61,247,954 (GRCm39) |
P341A |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,297,215 (GRCm39) |
E253G |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,343,804 (GRCm39) |
D2829V |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,512,067 (GRCm39) |
N2998S |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,235,842 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
A |
T |
1: 185,139,371 (GRCm39) |
K919* |
probably null |
Het |
| Esp16 |
A |
T |
17: 39,850,821 (GRCm39) |
K67* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,259,367 (GRCm39) |
E474D |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,502 (GRCm39) |
R945H |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,869,822 (GRCm38) |
V195E |
probably damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,567 (GRCm38) |
I86T |
probably damaging |
Het |
| Gm4744 |
G |
A |
6: 40,926,281 (GRCm39) |
S103F |
|
Het |
| Gvin2 |
A |
G |
7: 105,548,088 (GRCm39) |
S1655P |
probably benign |
Het |
| Ilkap |
A |
G |
1: 91,306,266 (GRCm39) |
I105T |
probably damaging |
Het |
| Isl1 |
G |
T |
13: 116,441,835 (GRCm39) |
H133N |
possibly damaging |
Het |
| Jade1 |
T |
A |
3: 41,559,113 (GRCm39) |
L398Q |
possibly damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,681,003 (GRCm39) |
V195M |
probably benign |
Het |
| Kif3a |
A |
T |
11: 53,489,627 (GRCm39) |
K669* |
probably null |
Het |
| L3mbtl4 |
G |
A |
17: 68,937,239 (GRCm39) |
R420H |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,321 (GRCm39) |
I197N |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,340,929 (GRCm39) |
T263A |
probably damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Naxe |
A |
G |
3: 87,965,757 (GRCm39) |
|
probably benign |
Het |
| Ndufs2 |
T |
C |
1: 171,068,677 (GRCm39) |
T51A |
probably benign |
Het |
| Nlrc5 |
T |
A |
8: 95,249,848 (GRCm39) |
L1824Q |
probably damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,251 (GRCm39) |
V27A |
unknown |
Het |
| Nucks1 |
A |
T |
1: 131,857,473 (GRCm39) |
M169L |
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,083,215 (GRCm39) |
D311E |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,547,229 (GRCm39) |
S140N |
probably benign |
Het |
| Or4a80 |
T |
A |
2: 89,582,599 (GRCm39) |
Y191F |
probably benign |
Het |
| Or4k45 |
T |
A |
2: 111,395,324 (GRCm39) |
H155L |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,479 (GRCm39) |
S321T |
probably benign |
Het |
| Or52n20 |
G |
T |
7: 104,320,022 (GRCm39) |
V38L |
probably benign |
Het |
| Or5w10 |
T |
A |
2: 87,375,114 (GRCm39) |
Y258F |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,239,457 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
T |
C |
9: 65,254,039 (GRCm39) |
S206P |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,575 (GRCm39) |
Y591* |
probably null |
Het |
| Pgap6 |
G |
T |
17: 26,340,931 (GRCm39) |
R678L |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,647 (GRCm39) |
M771I |
probably benign |
Het |
| Pramel47 |
C |
T |
5: 95,488,092 (GRCm39) |
H9Y |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,031 (GRCm39) |
Y1643C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,717,671 (GRCm39) |
I1906V |
probably benign |
Het |
| Rab33b |
T |
A |
3: 51,391,795 (GRCm39) |
S15T |
probably benign |
Het |
| Rasip1 |
A |
T |
7: 45,284,467 (GRCm39) |
M644L |
possibly damaging |
Het |
| Rnf4 |
G |
A |
5: 34,506,035 (GRCm39) |
C55Y |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,780,735 (GRCm39) |
Y585* |
probably null |
Het |
| Slc40a1 |
A |
T |
1: 45,950,576 (GRCm39) |
F292Y |
probably damaging |
Het |
| Smarca4 |
G |
A |
9: 21,570,144 (GRCm39) |
D716N |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,266,837 (GRCm39) |
H323L |
possibly damaging |
Het |
| Speer1m |
T |
C |
5: 11,971,489 (GRCm39) |
L147P |
probably damaging |
Het |
| Sprtn |
A |
G |
8: 125,629,933 (GRCm39) |
S409G |
probably benign |
Het |
| St3gal2 |
T |
G |
8: 111,688,853 (GRCm39) |
L131R |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,399,552 (GRCm39) |
C91R |
probably damaging |
Het |
| Tgm1 |
A |
T |
14: 55,937,754 (GRCm39) |
V785E |
probably damaging |
Het |
| Topaz1 |
G |
T |
9: 122,579,573 (GRCm39) |
V828L |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Ttc27 |
G |
A |
17: 75,050,047 (GRCm39) |
|
probably null |
Het |
| Usp2 |
G |
A |
9: 43,987,350 (GRCm39) |
G216D |
possibly damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,614,020 (GRCm39) |
D580G |
probably benign |
Het |
| Wbp1l |
G |
A |
19: 46,640,988 (GRCm39) |
R106H |
possibly damaging |
Het |
| Zmym2 |
G |
T |
14: 57,151,606 (GRCm39) |
C497F |
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 |
|
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 |
|
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'- TGGCTGGAGCTGACGTAATG -3'
(R):5'- TCCCAGAGAACCTAGTCATTTTCATG -3'
Sequencing Primer
(F):5'- AGCTGACGTAATGCTGGCAC -3'
(R):5'- AACCTAGTCATTTTCATGTTTGGTGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation