Incidental Mutation 'IGL02155:Ift74'
| ID |
282190 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ift74
|
| Ensembl Gene |
ENSMUSG00000028576 |
| Gene Name |
intraflagellar transport 74 |
| Synonyms |
Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
94502728-94581466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94567488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 394
(I394V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030311]
|
| AlphaFold |
Q8BKE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030311
AA Change: I394V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: I394V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
271 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
382 |
N/A |
INTRINSIC |
|
coiled coil region
|
430 |
490 |
N/A |
INTRINSIC |
|
coiled coil region
|
512 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152289
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(23) : Targeted(2) Gene trapped(21)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,583,350 (GRCm39) |
H302R |
probably null |
Het |
| Abi3bp |
A |
T |
16: 56,408,327 (GRCm39) |
H254L |
probably damaging |
Het |
| Adcy3 |
G |
A |
12: 4,262,142 (GRCm39) |
W1064* |
probably null |
Het |
| Arvcf |
C |
T |
16: 18,222,650 (GRCm39) |
P70S |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
| Cntrl |
T |
A |
2: 35,050,250 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,542,471 (GRCm39) |
F491Y |
probably benign |
Het |
| Disp2 |
C |
T |
2: 118,622,285 (GRCm39) |
R1006C |
probably damaging |
Het |
| Dnajc22 |
T |
C |
15: 98,998,886 (GRCm39) |
Y24H |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,153,245 (GRCm39) |
F3656L |
probably benign |
Het |
| Fbxo31 |
A |
G |
8: 122,285,814 (GRCm39) |
F212S |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,828,696 (GRCm39) |
M6831T |
probably benign |
Het |
| Gpi1 |
G |
T |
7: 33,929,614 (GRCm39) |
Q9K |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,439,349 (GRCm39) |
S5495C |
probably damaging |
Het |
| Kcnh5 |
G |
A |
12: 75,223,312 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,284,047 (GRCm39) |
D745G |
probably damaging |
Het |
| Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
| Mlxip |
T |
C |
5: 123,591,455 (GRCm39) |
M878T |
probably benign |
Het |
| Mrgpra4 |
T |
C |
7: 47,631,292 (GRCm39) |
Y103C |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,045,806 (GRCm39) |
I1657T |
probably damaging |
Het |
| Or5m11 |
T |
A |
2: 85,782,352 (GRCm39) |
M315K |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,447,874 (GRCm39) |
D40E |
probably benign |
Het |
| Rnf40 |
T |
C |
7: 127,189,888 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
C |
T |
1: 143,637,007 (GRCm39) |
|
probably null |
Het |
| Sema4d |
A |
G |
13: 51,857,303 (GRCm39) |
V643A |
probably benign |
Het |
| Taf7 |
A |
T |
18: 37,776,564 (GRCm39) |
M1K |
probably null |
Het |
| Tnfsf10 |
A |
T |
3: 27,389,380 (GRCm39) |
D147V |
possibly damaging |
Het |
| Usp45 |
T |
A |
4: 21,798,743 (GRCm39) |
|
probably null |
Het |
| Wdr62 |
T |
C |
7: 29,962,068 (GRCm39) |
D2G |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,743,340 (GRCm39) |
I50F |
probably benign |
Het |
|
| Other mutations in Ift74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Ift74
|
APN |
4 |
94,581,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01534:Ift74
|
APN |
4 |
94,568,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01701:Ift74
|
APN |
4 |
94,550,895 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02455:Ift74
|
APN |
4 |
94,524,068 (GRCm39) |
nonsense |
probably null |
|
|
IGL02877:Ift74
|
APN |
4 |
94,513,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03389:Ift74
|
APN |
4 |
94,510,149 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
P0005:Ift74
|
UTSW |
4 |
94,550,813 (GRCm39) |
splice site |
probably benign |
|
|
PIT4243001:Ift74
|
UTSW |
4 |
94,575,141 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0211:Ift74
|
UTSW |
4 |
94,567,492 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0211:Ift74
|
UTSW |
4 |
94,567,492 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1019:Ift74
|
UTSW |
4 |
94,524,072 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1240:Ift74
|
UTSW |
4 |
94,581,174 (GRCm39) |
splice site |
probably null |
|
|
R1699:Ift74
|
UTSW |
4 |
94,573,940 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1937:Ift74
|
UTSW |
4 |
94,550,883 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2114:Ift74
|
UTSW |
4 |
94,515,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2116:Ift74
|
UTSW |
4 |
94,515,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2117:Ift74
|
UTSW |
4 |
94,515,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2181:Ift74
|
UTSW |
4 |
94,520,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2680:Ift74
|
UTSW |
4 |
94,541,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Ift74
|
UTSW |
4 |
94,510,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3435:Ift74
|
UTSW |
4 |
94,510,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4080:Ift74
|
UTSW |
4 |
94,541,149 (GRCm39) |
splice site |
probably null |
|
|
R4379:Ift74
|
UTSW |
4 |
94,568,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4777:Ift74
|
UTSW |
4 |
94,541,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5197:Ift74
|
UTSW |
4 |
94,550,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5934:Ift74
|
UTSW |
4 |
94,520,971 (GRCm39) |
missense |
probably benign |
|
|
R5994:Ift74
|
UTSW |
4 |
94,579,961 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6639:Ift74
|
UTSW |
4 |
94,552,496 (GRCm39) |
intron |
probably benign |
|
|
R6781:Ift74
|
UTSW |
4 |
94,515,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Ift74
|
UTSW |
4 |
94,549,189 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7239:Ift74
|
UTSW |
4 |
94,541,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7899:Ift74
|
UTSW |
4 |
94,510,214 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8814:Ift74
|
UTSW |
4 |
94,550,873 (GRCm39) |
nonsense |
probably null |
|
|
R8944:Ift74
|
UTSW |
4 |
94,510,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9029:Ift74
|
UTSW |
4 |
94,506,271 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9112:Ift74
|
UTSW |
4 |
94,575,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9615:Ift74
|
UTSW |
4 |
94,550,822 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation