Incidental Mutation 'IGL01534:Ift74'
| ID |
89891 |
| 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 # |
IGL01534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
94502728-94581466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94568181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 406
(R406H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030311]
|
| AlphaFold |
Q8BKE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030311
AA Change: R406H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: R406H
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,146 (GRCm39) |
L111P |
possibly damaging |
Het |
| Adck5 |
C |
A |
15: 76,478,926 (GRCm39) |
H383Q |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,147,830 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
A |
6: 7,675,397 (GRCm39) |
H535L |
probably benign |
Het |
| Atf5 |
A |
G |
7: 44,462,462 (GRCm39) |
S221P |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,747,599 (GRCm39) |
Y294H |
probably damaging |
Het |
| B230307C23Rik |
A |
G |
16: 97,809,961 (GRCm39) |
|
probably benign |
Het |
| C1qtnf6 |
C |
T |
15: 78,409,416 (GRCm39) |
E144K |
probably benign |
Het |
| Casp8ap2 |
C |
T |
4: 32,648,134 (GRCm39) |
|
probably benign |
Het |
| Cd48 |
C |
A |
1: 171,523,307 (GRCm39) |
P50Q |
possibly damaging |
Het |
| Cnnm4 |
T |
C |
1: 36,538,596 (GRCm39) |
Y593H |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,144,019 (GRCm39) |
R569Q |
probably benign |
Het |
| Cubn |
A |
T |
2: 13,470,744 (GRCm39) |
C549* |
probably null |
Het |
| Dsg1a |
T |
A |
18: 20,474,053 (GRCm39) |
M1042K |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,114,651 (GRCm39) |
T835S |
probably damaging |
Het |
| Eif3c |
T |
C |
7: 126,156,867 (GRCm39) |
T389A |
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,521,985 (GRCm39) |
E177* |
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,026,772 (GRCm39) |
S91T |
possibly damaging |
Het |
| Grik3 |
T |
C |
4: 125,579,983 (GRCm39) |
V576A |
probably damaging |
Het |
| Gtpbp2 |
T |
A |
17: 46,474,430 (GRCm39) |
Y70N |
probably damaging |
Het |
| Idh3a |
T |
A |
9: 54,508,506 (GRCm39) |
|
probably benign |
Het |
| Kcna7 |
C |
A |
7: 45,055,935 (GRCm39) |
N50K |
probably damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,726,144 (GRCm39) |
S546P |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,303,986 (GRCm39) |
D134N |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,864,700 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
T |
C |
7: 3,288,463 (GRCm39) |
Y683C |
probably benign |
Het |
| Or14j3 |
A |
T |
17: 37,900,963 (GRCm39) |
Y94N |
possibly damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,546 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8i2 |
A |
G |
2: 86,852,228 (GRCm39) |
I220T |
probably damaging |
Het |
| Or9i1 |
A |
T |
19: 13,839,283 (GRCm39) |
N42I |
probably damaging |
Het |
| Or9i14 |
T |
A |
19: 13,792,666 (GRCm39) |
H96L |
probably benign |
Het |
| P2rx7 |
A |
C |
5: 122,814,761 (GRCm39) |
I409L |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
| Rabggtb |
A |
G |
3: 153,615,896 (GRCm39) |
|
probably null |
Het |
| Rgs4 |
A |
T |
1: 169,572,085 (GRCm39) |
C71* |
probably null |
Het |
| Rnase10 |
T |
C |
14: 51,245,436 (GRCm39) |
F5L |
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,609,888 (GRCm39) |
T987S |
probably benign |
Het |
| Shox2 |
A |
C |
3: 66,885,696 (GRCm39) |
D126E |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,059,830 (GRCm39) |
D910G |
probably damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,702,364 (GRCm39) |
C594Y |
possibly damaging |
Het |
| Spock2 |
C |
T |
10: 59,962,883 (GRCm39) |
|
probably benign |
Het |
| Togaram1 |
G |
T |
12: 65,013,321 (GRCm39) |
D191Y |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,640,660 (GRCm39) |
V172A |
probably benign |
Het |
| Tubb3 |
C |
T |
8: 124,147,705 (GRCm39) |
R213C |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,844 (GRCm39) |
V379E |
probably damaging |
Het |
| Zfp446 |
C |
T |
7: 12,713,493 (GRCm39) |
P153L |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,032,004 (GRCm39) |
N645K |
probably damaging |
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 |
|
IGL01701:Ift74
|
APN |
4 |
94,550,895 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02155:Ift74
|
APN |
4 |
94,567,488 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-12-03 |
Incidental Mutation