Incidental Mutation 'R4559:Ift140'
| ID |
343006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift140
|
| Ensembl Gene |
ENSMUSG00000024169 |
| Gene Name |
intraflagellar transport 140 |
| Synonyms |
Tce5, Wdtc2 |
| MMRRC Submission |
041785-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25235056-25318461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25309741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1090
(H1090Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024983]
[ENSMUST00000137386]
|
| AlphaFold |
E9PY46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024983
AA Change: H1090Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: H1090Q
| 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 damaging
Transcript: ENSMUST00000137386
AA Change: H1090Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: H1090Q
| 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: ENSMUST00000140692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153895
|
| Meta Mutation Damage Score |
0.1824 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
| 1700066M21Rik |
T |
C |
1: 57,422,083 (GRCm39) |
F153S |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,480,405 (GRCm39) |
V222A |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,322,321 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 68,004,584 (GRCm39) |
C2312S |
probably damaging |
Het |
| Cidea |
C |
T |
18: 67,493,298 (GRCm39) |
Q106* |
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,054,892 (GRCm39) |
T159A |
probably damaging |
Het |
| Cyp2j12 |
G |
T |
4: 96,001,194 (GRCm39) |
S304R |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,124,785 (GRCm39) |
F665L |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,603,978 (GRCm39) |
V815E |
probably damaging |
Het |
| Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,510,213 (GRCm39) |
M737T |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,193,634 (GRCm39) |
D1395V |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,209,146 (GRCm39) |
M1076I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,593 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,929,148 (GRCm39) |
R3851G |
probably damaging |
Het |
| Frem2 |
C |
T |
3: 53,561,742 (GRCm39) |
V922I |
probably benign |
Het |
| Gm10719 |
A |
T |
9: 3,018,945 (GRCm39) |
T200S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,844,555 (GRCm39) |
D176G |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,089,928 (GRCm39) |
|
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,625,032 (GRCm39) |
T104A |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,502,460 (GRCm39) |
D93G |
possibly damaging |
Het |
| Ing1 |
A |
G |
8: 11,612,090 (GRCm39) |
K176R |
probably benign |
Het |
| Jph1 |
A |
T |
1: 17,074,735 (GRCm39) |
C428S |
probably benign |
Het |
| Kif13b |
G |
T |
14: 65,043,581 (GRCm39) |
G1794W |
probably damaging |
Het |
| Map10 |
A |
G |
8: 126,398,553 (GRCm39) |
T649A |
probably benign |
Het |
| Med12l |
T |
C |
3: 58,914,523 (GRCm39) |
|
probably null |
Het |
| Nat8f1 |
A |
G |
6: 85,887,567 (GRCm39) |
I131T |
probably benign |
Het |
| Oas1d |
C |
A |
5: 121,054,958 (GRCm39) |
Q177K |
probably benign |
Het |
| Or4a74 |
C |
A |
2: 89,440,043 (GRCm39) |
M134I |
probably damaging |
Het |
| Or51q1 |
G |
A |
7: 103,628,767 (GRCm39) |
D123N |
probably damaging |
Het |
| P2ry2 |
A |
G |
7: 100,647,363 (GRCm39) |
V314A |
possibly damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
| Pfkl |
G |
T |
10: 77,824,717 (GRCm39) |
R691S |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,490,175 (GRCm39) |
I1005N |
probably damaging |
Het |
| Prkacb |
A |
G |
3: 146,451,147 (GRCm39) |
|
probably benign |
Het |
| Ptprm |
A |
T |
17: 66,990,403 (GRCm39) |
Y1412N |
possibly damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,226 (GRCm39) |
D13G |
probably damaging |
Het |
| Rab29 |
G |
A |
1: 131,800,305 (GRCm39) |
W201* |
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
| Rassf10 |
A |
G |
7: 112,554,338 (GRCm39) |
E313G |
probably benign |
Het |
| Sf1 |
GGCAGCAGCAGCAGCAGCAGC |
GGCAGCAGCAGCAGCAGC |
19: 6,424,845 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,031,678 (GRCm39) |
L468Q |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,062,695 (GRCm39) |
K254* |
probably null |
Het |
| Slc6a12 |
G |
A |
6: 121,340,820 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,895,570 (GRCm39) |
L412P |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,583 (GRCm39) |
S469P |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,664 (GRCm39) |
E272G |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,509,563 (GRCm39) |
G896W |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,749,890 (GRCm39) |
H3720Y |
probably benign |
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 |
|
IGL01394:Ift140
|
APN |
17 |
25,313,676 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCGCTAGCACAGATCTGTTG -3'
(R):5'- CAAACTGCTGGGTGGTGAAG -3'
Sequencing Primer
(F):5'- CGCTAGCACAGATCTGTTGTGATATC -3'
(R):5'- TGGTGAAGGCCAGCTCCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation