Incidental Mutation 'R6755:Ift172'
| ID |
530999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift172
|
| Ensembl Gene |
ENSMUSG00000038564 |
| Gene Name |
intraflagellar transport 172 |
| Synonyms |
4930553F24Rik, wim, avc1 |
| MMRRC Submission |
044871-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31410623-31448458 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 31418342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1214
(K1214*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041565]
|
| AlphaFold |
Q6VH22 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041565
AA Change: K1214*
|
| SMART Domains |
Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: K1214*
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
44 |
6e-3 |
SMART |
|
WD40
|
55 |
94 |
2.22e0 |
SMART |
|
WD40
|
102 |
139 |
1.23e2 |
SMART |
|
WD40
|
141 |
180 |
4.6e0 |
SMART |
|
WD40
|
186 |
223 |
3.3e1 |
SMART |
|
WD40
|
225 |
267 |
4.42e1 |
SMART |
|
WD40
|
279 |
314 |
1.03e1 |
SMART |
|
Blast:WD40
|
516 |
550 |
5e-13 |
BLAST |
|
low complexity region
|
573 |
588 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
625 |
1026 |
1.7e-10 |
PROSPERO |
|
Blast:TPR
|
1029 |
1062 |
2e-13 |
BLAST |
|
low complexity region
|
1077 |
1091 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1101 |
1498 |
1.7e-10 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201953
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. Mice homozygous for a conditional allele activated in the early limb bud exhibit polydactyly and short limbs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,475,994 (GRCm39) |
T1101M |
probably benign |
Het |
| 4930433I11Rik |
T |
C |
7: 40,643,734 (GRCm39) |
S468P |
probably damaging |
Het |
| Adam33 |
A |
G |
2: 130,895,069 (GRCm39) |
V637A |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,124,004 (GRCm39) |
V1228M |
possibly damaging |
Het |
| Ahi1 |
G |
T |
10: 20,893,812 (GRCm39) |
V848F |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| B4galt6 |
T |
C |
18: 20,822,386 (GRCm39) |
E264G |
probably benign |
Het |
| Bpifb4 |
A |
G |
2: 153,799,658 (GRCm39) |
T556A |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,938,082 (GRCm39) |
S64T |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,826,817 (GRCm39) |
S467P |
probably benign |
Het |
| Cables1 |
G |
T |
18: 12,072,882 (GRCm39) |
S479I |
probably null |
Het |
| Cbl |
T |
C |
9: 44,084,671 (GRCm39) |
I155V |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,880 (GRCm39) |
D297G |
probably damaging |
Het |
| Cdk8 |
T |
A |
5: 146,205,126 (GRCm39) |
H102Q |
probably damaging |
Het |
| Cpn2 |
A |
T |
16: 30,079,149 (GRCm39) |
L184Q |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,849,609 (GRCm39) |
H109Q |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,512,490 (GRCm39) |
E299G |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,144,893 (GRCm39) |
E150G |
possibly damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,246,405 (GRCm39) |
L499S |
possibly damaging |
Het |
| Fgf10 |
C |
A |
13: 118,925,821 (GRCm39) |
A200D |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,691,915 (GRCm39) |
E407G |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,556,891 (GRCm39) |
V232A |
probably damaging |
Het |
| Il20ra |
T |
C |
10: 19,626,542 (GRCm39) |
Y189H |
probably benign |
Het |
| Isg20l2 |
T |
A |
3: 87,838,996 (GRCm39) |
I69N |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,398,199 (GRCm39) |
D675G |
probably benign |
Het |
| Klhdc7a |
T |
A |
4: 139,693,786 (GRCm39) |
D387V |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,831,292 (GRCm39) |
N108D |
probably damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,841,847 (GRCm39) |
E944V |
probably damaging |
Het |
| Magi1 |
C |
T |
6: 93,685,158 (GRCm39) |
S740N |
probably damaging |
Het |
| Med26 |
A |
G |
8: 73,249,677 (GRCm39) |
I474T |
probably damaging |
Het |
| Mgst1 |
T |
A |
6: 138,124,770 (GRCm39) |
M68K |
probably damaging |
Het |
| Myh7 |
G |
A |
14: 55,229,770 (GRCm39) |
A91V |
possibly damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,580,216 (GRCm39) |
V450I |
probably benign |
Het |
| Nup160 |
T |
G |
2: 90,530,800 (GRCm39) |
F486C |
probably damaging |
Het |
| Nup50l |
T |
C |
6: 96,141,953 (GRCm39) |
T364A |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,994,152 (GRCm39) |
Y1602N |
probably damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,389,707 (GRCm39) |
T247S |
probably damaging |
Het |
| Or5ak4 |
C |
A |
2: 85,162,142 (GRCm39) |
M33I |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,689,164 (GRCm39) |
Y955* |
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pianp |
T |
C |
6: 124,976,347 (GRCm39) |
V52A |
probably benign |
Het |
| Plekhh2 |
T |
C |
17: 84,899,013 (GRCm39) |
Y997H |
probably damaging |
Het |
| Plekhm1 |
G |
T |
11: 103,278,069 (GRCm39) |
S342R |
possibly damaging |
Het |
| Poglut2 |
C |
T |
1: 44,149,894 (GRCm39) |
|
probably null |
Het |
| Ppp4r4 |
T |
A |
12: 103,551,996 (GRCm39) |
V81E |
probably damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,529,268 (GRCm39) |
T13A |
probably benign |
Het |
| Ptafr |
A |
G |
4: 132,306,657 (GRCm39) |
T16A |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,218,855 (GRCm39) |
L445Q |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,374,717 (GRCm39) |
F751L |
possibly damaging |
Het |
| Sap18 |
A |
C |
14: 58,039,474 (GRCm39) |
D153A |
probably damaging |
Het |
| Slc38a11 |
C |
T |
2: 65,194,235 (GRCm39) |
G10D |
probably benign |
Het |
| Snx32 |
T |
C |
19: 5,560,372 (GRCm39) |
N10D |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,261,677 (GRCm39) |
T180A |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,301,192 (GRCm39) |
K78R |
probably damaging |
Het |
| Syce3 |
T |
C |
15: 89,281,567 (GRCm39) |
D24G |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,344,732 (GRCm39) |
I153N |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,445,991 (GRCm39) |
Q308R |
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,511,471 (GRCm39) |
|
probably null |
Het |
| Tmbim6 |
T |
C |
15: 99,300,034 (GRCm39) |
V50A |
probably benign |
Het |
| Tmem107 |
T |
C |
11: 68,961,837 (GRCm39) |
V22A |
probably damaging |
Het |
| Ttc12 |
T |
C |
9: 49,364,646 (GRCm39) |
I377V |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,262,316 (GRCm39) |
N310I |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,175,416 (GRCm39) |
N1171K |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,574,831 (GRCm39) |
V1032E |
probably benign |
Het |
|
| Other mutations in Ift172 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Ift172
|
APN |
5 |
31,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Ift172
|
APN |
5 |
31,423,592 (GRCm39) |
missense |
probably benign |
|
|
IGL01405:Ift172
|
APN |
5 |
31,419,196 (GRCm39) |
nonsense |
probably null |
|
|
IGL01562:Ift172
|
APN |
5 |
31,424,591 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01758:Ift172
|
APN |
5 |
31,438,058 (GRCm39) |
missense |
probably benign |
|
|
IGL01792:Ift172
|
APN |
5 |
31,434,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01830:Ift172
|
APN |
5 |
31,442,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01839:Ift172
|
APN |
5 |
31,423,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02007:Ift172
|
APN |
5 |
31,443,948 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02172:Ift172
|
APN |
5 |
31,438,681 (GRCm39) |
splice site |
probably benign |
|
|
IGL02190:Ift172
|
APN |
5 |
31,411,802 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02334:Ift172
|
APN |
5 |
31,440,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02486:Ift172
|
APN |
5 |
31,414,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02517:Ift172
|
APN |
5 |
31,410,992 (GRCm39) |
splice site |
probably null |
|
|
IGL02571:Ift172
|
APN |
5 |
31,415,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Ift172
|
APN |
5 |
31,421,840 (GRCm39) |
missense |
probably benign |
|
|
IGL03183:Ift172
|
APN |
5 |
31,429,348 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03277:Ift172
|
APN |
5 |
31,424,642 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03349:Ift172
|
APN |
5 |
31,441,474 (GRCm39) |
missense |
probably benign |
0.05 |
|
ostinato
|
UTSW |
5 |
31,434,284 (GRCm39) |
missense |
probably benign |
0.10 |
|
pushback
|
UTSW |
5 |
31,444,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0042:Ift172
|
UTSW |
5 |
31,418,799 (GRCm39) |
missense |
probably benign |
0.35 |
|
PIT4802001:Ift172
|
UTSW |
5 |
31,442,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0153:Ift172
|
UTSW |
5 |
31,417,968 (GRCm39) |
missense |
probably benign |
|
|
R0328:Ift172
|
UTSW |
5 |
31,421,195 (GRCm39) |
nonsense |
probably null |
|
|
R0357:Ift172
|
UTSW |
5 |
31,415,244 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0369:Ift172
|
UTSW |
5 |
31,410,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Ift172
|
UTSW |
5 |
31,444,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Ift172
|
UTSW |
5 |
31,442,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0546:Ift172
|
UTSW |
5 |
31,414,945 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0553:Ift172
|
UTSW |
5 |
31,433,186 (GRCm39) |
splice site |
probably benign |
|
|
R0606:Ift172
|
UTSW |
5 |
31,411,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0834:Ift172
|
UTSW |
5 |
31,414,715 (GRCm39) |
missense |
probably benign |
|
|
R0973:Ift172
|
UTSW |
5 |
31,415,262 (GRCm39) |
unclassified |
probably benign |
|
|
R0973:Ift172
|
UTSW |
5 |
31,422,699 (GRCm39) |
missense |
probably benign |
|
|
R1189:Ift172
|
UTSW |
5 |
31,443,174 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1205:Ift172
|
UTSW |
5 |
31,443,136 (GRCm39) |
missense |
probably benign |
|
|
R1289:Ift172
|
UTSW |
5 |
31,438,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1342:Ift172
|
UTSW |
5 |
31,419,210 (GRCm39) |
missense |
probably benign |
|
|
R1395:Ift172
|
UTSW |
5 |
31,442,582 (GRCm39) |
unclassified |
probably benign |
|
|
R1417:Ift172
|
UTSW |
5 |
31,413,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Ift172
|
UTSW |
5 |
31,424,585 (GRCm39) |
nonsense |
probably null |
|
|
R2111:Ift172
|
UTSW |
5 |
31,443,423 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2175:Ift172
|
UTSW |
5 |
31,424,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Ift172
|
UTSW |
5 |
31,420,312 (GRCm39) |
missense |
probably benign |
|
|
R2870:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3705:Ift172
|
UTSW |
5 |
31,418,781 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3793:Ift172
|
UTSW |
5 |
31,414,925 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4385:Ift172
|
UTSW |
5 |
31,444,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:Ift172
|
UTSW |
5 |
31,422,781 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4590:Ift172
|
UTSW |
5 |
31,411,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Ift172
|
UTSW |
5 |
31,441,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4665:Ift172
|
UTSW |
5 |
31,442,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4977:Ift172
|
UTSW |
5 |
31,429,460 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5109:Ift172
|
UTSW |
5 |
31,423,330 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5182:Ift172
|
UTSW |
5 |
31,424,958 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5343:Ift172
|
UTSW |
5 |
31,421,156 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5465:Ift172
|
UTSW |
5 |
31,418,862 (GRCm39) |
splice site |
probably null |
|
|
R5622:Ift172
|
UTSW |
5 |
31,440,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Ift172
|
UTSW |
5 |
31,412,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5793:Ift172
|
UTSW |
5 |
31,434,292 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5870:Ift172
|
UTSW |
5 |
31,434,284 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5919:Ift172
|
UTSW |
5 |
31,418,006 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5968:Ift172
|
UTSW |
5 |
31,418,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Ift172
|
UTSW |
5 |
31,414,241 (GRCm39) |
missense |
probably benign |
|
|
R6339:Ift172
|
UTSW |
5 |
31,444,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Ift172
|
UTSW |
5 |
31,413,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6355:Ift172
|
UTSW |
5 |
31,441,501 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6565:Ift172
|
UTSW |
5 |
31,433,227 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6668:Ift172
|
UTSW |
5 |
31,412,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6818:Ift172
|
UTSW |
5 |
31,423,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6939:Ift172
|
UTSW |
5 |
31,414,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Ift172
|
UTSW |
5 |
31,414,730 (GRCm39) |
missense |
probably benign |
|
|
R7047:Ift172
|
UTSW |
5 |
31,433,238 (GRCm39) |
nonsense |
probably null |
|
|
R7156:Ift172
|
UTSW |
5 |
31,429,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Ift172
|
UTSW |
5 |
31,411,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Ift172
|
UTSW |
5 |
31,442,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Ift172
|
UTSW |
5 |
31,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Ift172
|
UTSW |
5 |
31,423,723 (GRCm39) |
nonsense |
probably null |
|
|
R7890:Ift172
|
UTSW |
5 |
31,440,425 (GRCm39) |
nonsense |
probably null |
|
|
R7980:Ift172
|
UTSW |
5 |
31,417,988 (GRCm39) |
missense |
probably benign |
|
|
R8263:Ift172
|
UTSW |
5 |
31,422,681 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8559:Ift172
|
UTSW |
5 |
31,413,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8717:Ift172
|
UTSW |
5 |
31,412,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774:Ift172
|
UTSW |
5 |
31,415,207 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8774-TAIL:Ift172
|
UTSW |
5 |
31,415,207 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9037:Ift172
|
UTSW |
5 |
31,420,400 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9038:Ift172
|
UTSW |
5 |
31,441,399 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9133:Ift172
|
UTSW |
5 |
31,442,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9607:Ift172
|
UTSW |
5 |
31,410,913 (GRCm39) |
missense |
|
|
|
X0022:Ift172
|
UTSW |
5 |
31,442,664 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Ift172
|
UTSW |
5 |
31,434,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCACTACACAGGTTCCTCTG -3'
(R):5'- AGCTGTACGACTGTTTGCTTC -3'
Sequencing Primer
(F):5'- GGCCTGACTACAGACTTCTTAGAC -3'
(R):5'- ACGACTGTTTGCTTCCACTACTAAGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation