Incidental Mutation 'R8492:Ift122'
| ID |
658044 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift122
|
| Ensembl Gene |
ENSMUSG00000030323 |
| Gene Name |
intraflagellar transport 122 |
| Synonyms |
C86139, sopb, Wdr10 |
| MMRRC Submission |
067934-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8492 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115863966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 246
(S246T)
|
| 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: S246T
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: S246T
| 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: S305T
| 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: S246T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: S246T
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (68/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
A |
10: 29,094,243 (GRCm39) |
R43K |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,793,410 (GRCm39) |
Y354F |
probably benign |
Het |
| Aloxe3 |
A |
T |
11: 69,017,301 (GRCm39) |
T25S |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,250,503 (GRCm39) |
K414E |
probably damaging |
Het |
| Ankmy2 |
A |
T |
12: 36,226,590 (GRCm39) |
I95F |
probably damaging |
Het |
| Ankrd35 |
T |
G |
3: 96,589,529 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
A |
G |
13: 94,531,294 (GRCm39) |
N91S |
possibly damaging |
Het |
| Apip |
T |
A |
2: 102,922,866 (GRCm39) |
L228H |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,365,847 (GRCm39) |
Y488C |
probably damaging |
Het |
| Asah2 |
G |
A |
19: 31,983,659 (GRCm39) |
T595M |
probably benign |
Het |
| Ccdc174 |
G |
C |
6: 91,865,138 (GRCm39) |
R132T |
probably benign |
Het |
| Ccng2 |
A |
C |
5: 93,419,313 (GRCm39) |
H233P |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,622,422 (GRCm39) |
F586L |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,390,926 (GRCm39) |
S969P |
probably damaging |
Het |
| Cep170b |
G |
A |
12: 112,711,134 (GRCm39) |
D1505N |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,876,980 (GRCm39) |
|
probably null |
Het |
| Cytip |
A |
G |
2: 58,027,869 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,167,525 (GRCm39) |
S1026T |
probably damaging |
Het |
| Disc1 |
T |
A |
8: 125,817,177 (GRCm39) |
D372E |
probably damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,828,271 (GRCm39) |
M560L |
possibly damaging |
Het |
| Dync2li1 |
C |
A |
17: 84,957,134 (GRCm39) |
|
probably null |
Het |
| Eif3c |
C |
T |
7: 126,162,282 (GRCm39) |
G180D |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| G6pc2 |
A |
G |
2: 69,050,586 (GRCm39) |
I70M |
probably damaging |
Het |
| Gm5145 |
A |
T |
17: 20,790,681 (GRCm39) |
I20F |
probably damaging |
Het |
| Hba-x |
T |
A |
11: 32,227,921 (GRCm39) |
F128L |
probably benign |
Het |
| Hspb1 |
G |
A |
5: 135,918,222 (GRCm39) |
E190K |
possibly damaging |
Het |
| Inppl1 |
A |
T |
7: 101,475,985 (GRCm39) |
S828T |
probably damaging |
Het |
| Krt84 |
C |
A |
15: 101,438,051 (GRCm39) |
Q301H |
probably damaging |
Het |
| Malrd1 |
T |
G |
2: 15,614,934 (GRCm39) |
S250A |
|
Het |
| Mettl21e |
A |
G |
1: 44,245,553 (GRCm39) |
I231T |
probably damaging |
Het |
| Miip |
T |
C |
4: 147,945,881 (GRCm39) |
D341G |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,313,473 (GRCm39) |
D1287G |
probably damaging |
Het |
| Ndufb5 |
T |
G |
3: 32,805,377 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,203,224 (GRCm39) |
E309G |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,299,248 (GRCm39) |
F199I |
probably benign |
Het |
| Or12k7 |
T |
A |
2: 36,958,695 (GRCm39) |
I126N |
probably damaging |
Het |
| Pcdhgc3 |
T |
A |
18: 37,940,347 (GRCm39) |
Y249* |
probably null |
Het |
| Plekhg3 |
G |
T |
12: 76,622,790 (GRCm39) |
V677L |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,733,042 (GRCm39) |
Y25H |
probably damaging |
Het |
| Prok2 |
A |
T |
6: 99,691,437 (GRCm39) |
H75Q |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,184,524 (GRCm39) |
H1494Q |
possibly damaging |
Het |
| Rapgef6 |
T |
G |
11: 54,581,063 (GRCm39) |
I1277S |
probably damaging |
Het |
| Rhob |
G |
T |
12: 8,549,531 (GRCm39) |
Y34* |
probably null |
Het |
| Rnf141 |
T |
G |
7: 110,436,407 (GRCm39) |
D7A |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,809,911 (GRCm39) |
S1220P |
probably benign |
Het |
| Rpl13a |
A |
G |
7: 44,775,945 (GRCm39) |
V48A |
possibly damaging |
Het |
| Serpinb9f |
C |
A |
13: 33,518,587 (GRCm39) |
H362Q |
probably damaging |
Het |
| Shld2 |
T |
A |
14: 33,967,189 (GRCm39) |
K122N |
probably damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,571,595 (GRCm39) |
V109L |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,564,809 (GRCm39) |
V390A |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,263,869 (GRCm39) |
N839D |
possibly damaging |
Het |
| Taf1c |
G |
A |
8: 120,325,456 (GRCm39) |
T802I |
probably benign |
Het |
| Tdh |
C |
A |
14: 63,730,269 (GRCm39) |
D337Y |
probably damaging |
Het |
| Tmem156 |
A |
T |
5: 65,222,438 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Tmpo |
C |
A |
10: 90,997,720 (GRCm39) |
R689L |
probably benign |
Het |
| Trim56 |
A |
C |
5: 137,141,783 (GRCm39) |
C578G |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Trpv3 |
G |
A |
11: 73,179,035 (GRCm39) |
W481* |
probably null |
Het |
| Tssk3 |
T |
C |
4: 129,383,445 (GRCm39) |
M76V |
probably benign |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,056 (GRCm39) |
Y32F |
possibly damaging |
Het |
| Vmn1r53 |
A |
G |
6: 90,200,394 (GRCm39) |
I310T |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,821,470 (GRCm39) |
T148A |
probably benign |
Het |
| Zdhhc14 |
G |
A |
17: 5,762,689 (GRCm39) |
V198I |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,927,499 (GRCm39) |
R637G |
possibly damaging |
Het |
| Zic5 |
G |
T |
14: 122,702,474 (GRCm39) |
Q86K |
unknown |
Het |
| Zzef1 |
T |
A |
11: 72,777,572 (GRCm39) |
M1801K |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,763,430 (GRCm39) |
V1359G |
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 |
|
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'- TCCCTACCCGGCTAATGTTG -3'
(R):5'- GTACAGGAGAGCTGTCAATCTAG -3'
Sequencing Primer
(F):5'- TACCCGGCTAATGTTGGCGAG -3'
(R):5'- AGCTGTCAATCTAGGCTGAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation