Incidental Mutation 'R9571:Ift122'
| ID |
721984 |
| 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 # |
R9571 (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 115857628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 125
(S125A)
|
| 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: S125A
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: S125A
| 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: S125A
| 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 |
possibly damaging
Transcript: ENSMUST00000112925
AA Change: S125A
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: S125A
| 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: S125A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138535
Gene: ENSMUSG00000030323
AA Change: S125A
| 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: 99.7%
- 20x: 99.0%
|
| 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 |
|---|
| 1700020A23Rik |
A |
G |
2: 130,247,482 (GRCm39) |
D6G |
probably benign |
Het |
| Abl2 |
T |
G |
1: 156,469,084 (GRCm39) |
S783A |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,117,543 (GRCm39) |
T169S |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,141,653 (GRCm39) |
V621A |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,742,510 (GRCm39) |
S521G |
possibly damaging |
Het |
| Ap2m1 |
G |
A |
16: 20,360,037 (GRCm39) |
G213R |
probably damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Arl4d |
T |
C |
11: 101,558,032 (GRCm39) |
M186T |
possibly damaging |
Het |
| Cep192 |
A |
G |
18: 67,952,109 (GRCm39) |
D428G |
probably damaging |
Het |
| Ckap5 |
A |
C |
2: 91,387,953 (GRCm39) |
D266A |
probably damaging |
Het |
| Crls1 |
A |
T |
2: 132,691,793 (GRCm39) |
N106I |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,655,398 (GRCm39) |
|
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,704,969 (GRCm39) |
R161G |
possibly damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,196 (GRCm39) |
I231N |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,750,034 (GRCm39) |
V352D |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,800,740 (GRCm39) |
D758G |
probably damaging |
Het |
| Duxf4 |
G |
A |
10: 58,071,378 (GRCm39) |
L279F |
possibly damaging |
Het |
| Gatad2a |
C |
A |
8: 70,370,381 (GRCm39) |
A172S |
probably benign |
Het |
| Ghsr |
G |
T |
3: 27,426,664 (GRCm39) |
R240L |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,900,858 (GRCm39) |
M1415K |
probably benign |
Het |
| Glo1 |
G |
A |
17: 30,816,835 (GRCm39) |
T107I |
possibly damaging |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm17334 |
C |
T |
11: 53,663,760 (GRCm39) |
V34M |
unknown |
Het |
| Habp4 |
T |
A |
13: 64,322,615 (GRCm39) |
M228K |
probably benign |
Het |
| Hacl1 |
A |
G |
14: 31,344,838 (GRCm39) |
V257A |
possibly damaging |
Het |
| Iqce |
C |
T |
5: 140,651,862 (GRCm39) |
D704N |
possibly damaging |
Het |
| Jcad |
T |
A |
18: 4,673,252 (GRCm39) |
L338* |
probably null |
Het |
| Kcnj13 |
T |
C |
1: 87,316,849 (GRCm39) |
D88G |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,305,098 (GRCm39) |
D942G |
probably damaging |
Het |
| Marchf8 |
T |
A |
6: 116,383,237 (GRCm39) |
S271T |
probably benign |
Het |
| Meis1 |
A |
G |
11: 18,961,378 (GRCm39) |
L165S |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,355,178 (GRCm39) |
T865S |
probably benign |
Het |
| Morc3 |
T |
A |
16: 93,641,107 (GRCm39) |
N46K |
possibly damaging |
Het |
| Mpzl1 |
C |
T |
1: 165,429,374 (GRCm39) |
C219Y |
probably benign |
Het |
| Mup5 |
A |
G |
4: 61,750,787 (GRCm39) |
|
probably null |
Het |
| Ninl |
A |
T |
2: 150,791,803 (GRCm39) |
W907R |
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,120,156 (GRCm39) |
S491T |
probably benign |
Het |
| Or4f53 |
A |
T |
2: 111,088,083 (GRCm39) |
I208F |
probably benign |
Het |
| Or51g1 |
A |
G |
7: 102,634,221 (GRCm39) |
V50A |
probably benign |
Het |
| Or5b121 |
T |
A |
19: 13,507,697 (GRCm39) |
I264N |
probably damaging |
Het |
| Or6c205 |
C |
A |
10: 129,087,182 (GRCm39) |
P260T |
possibly damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,425,191 (GRCm39) |
M919K |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,598,364 (GRCm39) |
V2262E |
possibly damaging |
Het |
| Pcbp2 |
A |
G |
15: 102,383,113 (GRCm39) |
D77G |
possibly damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,820,907 (GRCm39) |
R113Q |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,645,971 (GRCm39) |
I143T |
probably damaging |
Het |
| Polr2m |
T |
C |
9: 71,386,710 (GRCm39) |
E357G |
possibly damaging |
Het |
| Prox2 |
G |
A |
12: 85,141,766 (GRCm39) |
Q146* |
probably null |
Het |
| Ptprt |
A |
G |
2: 161,395,732 (GRCm39) |
V1167A |
probably benign |
Het |
| Rbm11 |
G |
A |
16: 75,397,543 (GRCm39) |
E158K |
possibly damaging |
Het |
| Sall2 |
A |
T |
14: 52,551,830 (GRCm39) |
V455E |
probably damaging |
Het |
| Sar1b |
T |
A |
11: 51,680,064 (GRCm39) |
L130Q |
probably damaging |
Het |
| Slc35f6 |
A |
G |
5: 30,815,180 (GRCm39) |
N369S |
possibly damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,412,380 (GRCm39) |
M351L |
probably benign |
Het |
| Taf15 |
T |
A |
11: 83,395,487 (GRCm39) |
Y397* |
probably null |
Het |
| Tmprss11e |
A |
T |
5: 86,875,149 (GRCm39) |
V39D |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,342,359 (GRCm39) |
D641G |
probably damaging |
Het |
| Trpc3 |
T |
A |
3: 36,694,909 (GRCm39) |
T682S |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,707,933 (GRCm39) |
|
probably null |
Het |
| Usp6nl |
A |
G |
2: 6,445,960 (GRCm39) |
N646D |
possibly damaging |
Het |
| Vip |
T |
C |
10: 5,590,661 (GRCm39) |
F12L |
probably benign |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,572 (GRCm39) |
F249I |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,505,641 (GRCm39) |
S18T |
probably benign |
Het |
| Vmn2r97 |
G |
T |
17: 19,149,919 (GRCm39) |
V436L |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,237,631 (GRCm39) |
|
probably null |
Het |
| Ykt6 |
T |
C |
11: 5,914,613 (GRCm39) |
V171A |
possibly damaging |
Het |
| Zfp658 |
A |
G |
7: 43,222,139 (GRCm39) |
D138G |
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 |
|
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'- CCCTGAAGAACTTGGCTAGAG -3'
(R):5'- GAAACACGGGAAGCCTATCC -3'
Sequencing Primer
(F):5'- AGTCACATGTGCAGTGTACC -3'
(R):5'- AAGCCTATCCCAGCTGGC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation