Incidental Mutation 'IGL01394:Ift140'
| ID |
79341 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ift140
|
| Ensembl Gene |
ENSMUSG00000024169 |
| Gene Name |
intraflagellar transport 140 |
| Synonyms |
Tce5, Wdtc2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25235056-25318461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25313676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1369
(D1369G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024983]
[ENSMUST00000024987]
[ENSMUST00000115181]
[ENSMUST00000137386]
|
| AlphaFold |
E9PY46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024983
AA Change: D1369G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: D1369G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
55 |
89 |
6.14e1 |
SMART |
|
WD40
|
91 |
131 |
1.49e0 |
SMART |
|
Blast:WD40
|
252 |
304 |
3e-15 |
BLAST |
|
WD40
|
308 |
352 |
2.76e0 |
SMART |
|
Blast:WD40
|
364 |
405 |
8e-17 |
BLAST |
|
Blast:WD40
|
510 |
547 |
6e-13 |
BLAST |
|
Blast:WD40
|
560 |
603 |
3e-7 |
BLAST |
|
Blast:TPR
|
863 |
896 |
9e-13 |
BLAST |
|
Blast:TPR
|
1011 |
1044 |
1e-13 |
BLAST |
|
Blast:TPR
|
1377 |
1410 |
8e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024987
|
| SMART Domains |
Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Telomere_reg-2
|
513 |
621 |
3.8e-38 |
PFAM |
|
low complexity region
|
771 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115181
|
| SMART Domains |
Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Telomere_reg-2
|
513 |
621 |
3.8e-38 |
PFAM |
|
low complexity region
|
771 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137386
|
| SMART Domains |
Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
55 |
89 |
6.14e1 |
SMART |
|
WD40
|
91 |
131 |
1.49e0 |
SMART |
|
Blast:WD40
|
252 |
304 |
3e-15 |
BLAST |
|
WD40
|
308 |
352 |
2.76e0 |
SMART |
|
Blast:WD40
|
364 |
405 |
1e-16 |
BLAST |
|
Blast:WD40
|
510 |
547 |
5e-13 |
BLAST |
|
Blast:WD40
|
560 |
603 |
3e-7 |
BLAST |
|
Blast:TPR
|
863 |
896 |
8e-13 |
BLAST |
|
Blast:TPR
|
1011 |
1044 |
9e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155607
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a reporter knock-out allele die at mid-gestation. Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects and situs abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
G |
A |
7: 130,747,960 (GRCm39) |
Q11* |
probably null |
Het |
| Acot5 |
T |
C |
12: 84,122,262 (GRCm39) |
I282T |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 69,130,521 (GRCm39) |
V122A |
probably damaging |
Het |
| Aldh16a1 |
A |
C |
7: 44,794,937 (GRCm39) |
S511A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,702,317 (GRCm39) |
E480G |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,954,514 (GRCm39) |
V723A |
possibly damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,568,742 (GRCm39) |
|
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,873,209 (GRCm39) |
E382G |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,246,895 (GRCm39) |
Y349H |
probably damaging |
Het |
| Clpx |
T |
C |
9: 65,217,495 (GRCm39) |
V21A |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,719,239 (GRCm39) |
N356S |
possibly damaging |
Het |
| Ctnnd1 |
A |
G |
2: 84,435,600 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,367,945 (GRCm39) |
N505S |
probably benign |
Het |
| Eaf2 |
G |
A |
16: 36,630,928 (GRCm39) |
P82S |
probably damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,547,057 (GRCm39) |
Y456C |
probably benign |
Het |
| Foxred2 |
T |
C |
15: 77,839,820 (GRCm39) |
T157A |
probably benign |
Het |
| Fscb |
A |
T |
12: 64,520,578 (GRCm39) |
I296K |
possibly damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,281,424 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
G |
16: 36,751,926 (GRCm39) |
E3120G |
probably damaging |
Het |
| Kcnk13 |
T |
C |
12: 100,027,921 (GRCm39) |
V332A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,664,983 (GRCm39) |
D661E |
probably null |
Het |
| Lum |
A |
T |
10: 97,404,834 (GRCm39) |
D243V |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,220,975 (GRCm39) |
T86A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,210,728 (GRCm39) |
V1706D |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,658,592 (GRCm39) |
Q455R |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,423 (GRCm39) |
F28S |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,261,101 (GRCm39) |
S241T |
possibly damaging |
Het |
| Papolg |
G |
A |
11: 23,817,235 (GRCm39) |
T654I |
probably benign |
Het |
| Pappa2 |
G |
A |
1: 158,592,674 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
C |
T |
17: 84,864,858 (GRCm39) |
T82I |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,080 (GRCm39) |
V1773A |
probably benign |
Het |
| Psmb8 |
G |
T |
17: 34,419,703 (GRCm39) |
V186L |
probably damaging |
Het |
| Rin3 |
T |
C |
12: 102,339,862 (GRCm39) |
V604A |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,190 (GRCm39) |
D252G |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 141,598,970 (GRCm39) |
H212Y |
probably benign |
Het |
| Slc5a5 |
G |
T |
8: 71,342,032 (GRCm39) |
Y307* |
probably null |
Het |
| Slc9a9 |
T |
A |
9: 95,005,090 (GRCm39) |
L499Q |
probably benign |
Het |
| Snx8 |
C |
A |
5: 140,337,934 (GRCm39) |
G237V |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,836,688 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,536,808 (GRCm39) |
E417G |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,009,875 (GRCm39) |
D1034G |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 6,045,024 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
A |
G |
15: 81,909,862 (GRCm39) |
K89R |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,980,782 (GRCm39) |
V237A |
probably damaging |
Het |
| Zdhhc6 |
A |
G |
19: 55,298,324 (GRCm39) |
W178R |
probably benign |
Het |
| Zfp280b |
C |
A |
10: 75,875,497 (GRCm39) |
Q459K |
probably damaging |
Het |
| Zfp811 |
C |
A |
17: 33,016,794 (GRCm39) |
K414N |
probably damaging |
Het |
|
| Other mutations in Ift140 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00753:Ift140
|
APN |
17 |
25,274,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00966:Ift140
|
APN |
17 |
25,237,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01082:Ift140
|
APN |
17 |
25,267,429 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01816:Ift140
|
APN |
17 |
25,305,999 (GRCm39) |
splice site |
probably null |
|
|
IGL01994:Ift140
|
APN |
17 |
25,267,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02102:Ift140
|
APN |
17 |
25,252,104 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02207:Ift140
|
APN |
17 |
25,274,572 (GRCm39) |
missense |
probably benign |
|
|
IGL02493:Ift140
|
APN |
17 |
25,306,898 (GRCm39) |
nonsense |
probably null |
|
|
IGL02735:Ift140
|
APN |
17 |
25,253,009 (GRCm39) |
splice site |
probably benign |
|
|
IGL02902:Ift140
|
APN |
17 |
25,309,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Ift140
|
APN |
17 |
25,311,368 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03122:Ift140
|
APN |
17 |
25,305,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03206:Ift140
|
APN |
17 |
25,311,800 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03271:Ift140
|
APN |
17 |
25,306,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03358:Ift140
|
APN |
17 |
25,306,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Ift140
|
UTSW |
17 |
25,305,834 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0100:Ift140
|
UTSW |
17 |
25,309,928 (GRCm39) |
nonsense |
probably null |
|
|
R0100:Ift140
|
UTSW |
17 |
25,309,928 (GRCm39) |
nonsense |
probably null |
|
|
R0197:Ift140
|
UTSW |
17 |
25,309,907 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0238:Ift140
|
UTSW |
17 |
25,264,497 (GRCm39) |
nonsense |
probably null |
|
|
R0238:Ift140
|
UTSW |
17 |
25,264,497 (GRCm39) |
nonsense |
probably null |
|
|
R0239:Ift140
|
UTSW |
17 |
25,264,497 (GRCm39) |
nonsense |
probably null |
|
|
R0239:Ift140
|
UTSW |
17 |
25,264,497 (GRCm39) |
nonsense |
probably null |
|
|
R0355:Ift140
|
UTSW |
17 |
25,267,409 (GRCm39) |
nonsense |
probably null |
|
|
R0399:Ift140
|
UTSW |
17 |
25,269,314 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0574:Ift140
|
UTSW |
17 |
25,270,734 (GRCm39) |
splice site |
probably null |
|
|
R0610:Ift140
|
UTSW |
17 |
25,254,777 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0701:Ift140
|
UTSW |
17 |
25,309,907 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0883:Ift140
|
UTSW |
17 |
25,309,907 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0900:Ift140
|
UTSW |
17 |
25,254,786 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1167:Ift140
|
UTSW |
17 |
25,254,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1295:Ift140
|
UTSW |
17 |
25,307,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1588:Ift140
|
UTSW |
17 |
25,306,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Ift140
|
UTSW |
17 |
25,307,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1637:Ift140
|
UTSW |
17 |
25,244,608 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1854:Ift140
|
UTSW |
17 |
25,254,813 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2397:Ift140
|
UTSW |
17 |
25,239,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Ift140
|
UTSW |
17 |
25,255,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2918:Ift140
|
UTSW |
17 |
25,254,805 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3433:Ift140
|
UTSW |
17 |
25,255,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3878:Ift140
|
UTSW |
17 |
25,247,918 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4559:Ift140
|
UTSW |
17 |
25,309,741 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4670:Ift140
|
UTSW |
17 |
25,317,935 (GRCm39) |
unclassified |
probably benign |
|
|
R4711:Ift140
|
UTSW |
17 |
25,313,691 (GRCm39) |
splice site |
probably null |
|
|
R4934:Ift140
|
UTSW |
17 |
25,267,462 (GRCm39) |
missense |
probably benign |
|
|
R4949:Ift140
|
UTSW |
17 |
25,313,639 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4982:Ift140
|
UTSW |
17 |
25,255,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5099:Ift140
|
UTSW |
17 |
25,309,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Ift140
|
UTSW |
17 |
25,254,786 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5268:Ift140
|
UTSW |
17 |
25,239,601 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5423:Ift140
|
UTSW |
17 |
25,252,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5480:Ift140
|
UTSW |
17 |
25,239,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Ift140
|
UTSW |
17 |
25,264,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Ift140
|
UTSW |
17 |
25,247,787 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5837:Ift140
|
UTSW |
17 |
25,308,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Ift140
|
UTSW |
17 |
25,252,893 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5907:Ift140
|
UTSW |
17 |
25,311,345 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5966:Ift140
|
UTSW |
17 |
25,313,735 (GRCm39) |
nonsense |
probably null |
|
|
R6000:Ift140
|
UTSW |
17 |
25,255,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6046:Ift140
|
UTSW |
17 |
25,274,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6050:Ift140
|
UTSW |
17 |
25,309,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6103:Ift140
|
UTSW |
17 |
25,312,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Ift140
|
UTSW |
17 |
25,247,946 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6287:Ift140
|
UTSW |
17 |
25,269,408 (GRCm39) |
missense |
probably benign |
|
|
R6539:Ift140
|
UTSW |
17 |
25,313,643 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6656:Ift140
|
UTSW |
17 |
25,251,147 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6723:Ift140
|
UTSW |
17 |
25,252,090 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6749:Ift140
|
UTSW |
17 |
25,317,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6892:Ift140
|
UTSW |
17 |
25,239,520 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7151:Ift140
|
UTSW |
17 |
25,274,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Ift140
|
UTSW |
17 |
25,239,619 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7424:Ift140
|
UTSW |
17 |
25,256,010 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7552:Ift140
|
UTSW |
17 |
25,252,089 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7560:Ift140
|
UTSW |
17 |
25,311,315 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7660:Ift140
|
UTSW |
17 |
25,270,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8105:Ift140
|
UTSW |
17 |
25,255,949 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8415:Ift140
|
UTSW |
17 |
25,311,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8437:Ift140
|
UTSW |
17 |
25,313,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8747:Ift140
|
UTSW |
17 |
25,254,809 (GRCm39) |
missense |
probably benign |
|
|
R8932:Ift140
|
UTSW |
17 |
25,305,862 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9226:Ift140
|
UTSW |
17 |
25,317,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9347:Ift140
|
UTSW |
17 |
25,313,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9451:Ift140
|
UTSW |
17 |
25,252,925 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9456:Ift140
|
UTSW |
17 |
25,254,758 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9782:Ift140
|
UTSW |
17 |
25,264,151 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation