Incidental Mutation 'IGL02049:Ift56'
ID |
185033 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ift56
|
Ensembl Gene |
ENSMUSG00000056832 |
Gene Name |
intraflagellar transport 56 |
Synonyms |
hpy, hydrocephalic-polydactyl, 9430097H08Rik, hop, Ttc26 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.578)
|
Stock # |
IGL02049
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
38358404-38404582 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38402067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 520
(T520A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159145]
[ENSMUST00000162554]
|
AlphaFold |
Q8BS45 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159145
|
SMART Domains |
Protein: ENSMUSP00000124873 Gene: ENSMUSG00000056832
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
29 |
N/A |
INTRINSIC |
Pfam:TPR_2
|
58 |
88 |
1.2e-5 |
PFAM |
Pfam:TPR_8
|
58 |
91 |
1.7e-3 |
PFAM |
Pfam:TPR_1
|
61 |
87 |
4.6e-4 |
PFAM |
Pfam:TPR_11
|
63 |
113 |
4.9e-11 |
PFAM |
Pfam:TPR_19
|
67 |
113 |
3.1e-7 |
PFAM |
Pfam:TPR_8
|
89 |
113 |
2e-3 |
PFAM |
Pfam:TPR_1
|
91 |
113 |
1.7e-4 |
PFAM |
Pfam:TPR_2
|
91 |
113 |
2.4e-3 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162554
AA Change: T520A
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124369 Gene: ENSMUSG00000056832 AA Change: T520A
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
29 |
N/A |
INTRINSIC |
Pfam:TPR_2
|
58 |
88 |
2.7e-5 |
PFAM |
Pfam:TPR_11
|
63 |
117 |
9e-9 |
PFAM |
Pfam:TPR_9
|
157 |
227 |
9.2e-4 |
PFAM |
Blast:TPR
|
359 |
392 |
9e-10 |
BLAST |
Blast:TPR
|
461 |
494 |
8e-15 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous nonsense mutation exhibit partial prenatal lethality, a hopping gait, preaxial polydactyly, male sterility due to lack of sperm flagella, impaired hearing, and patterning defects that are typical of impaired Hedgehog signaling. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
A |
2: 35,254,801 (GRCm39) |
R27S |
probably benign |
Het |
4930596D02Rik |
C |
A |
14: 35,533,535 (GRCm39) |
V78L |
probably benign |
Het |
Abca3 |
T |
A |
17: 24,595,704 (GRCm39) |
C352* |
probably null |
Het |
Acat3 |
T |
A |
17: 13,144,207 (GRCm39) |
Y324F |
probably benign |
Het |
Adamts8 |
T |
C |
9: 30,862,650 (GRCm39) |
V285A |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,484,929 (GRCm39) |
I652T |
probably damaging |
Het |
Arhgef6 |
T |
A |
X: 56,321,271 (GRCm39) |
Q320L |
probably damaging |
Het |
Armh1 |
A |
T |
4: 117,094,860 (GRCm39) |
I60K |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,854,642 (GRCm39) |
V145A |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,580,880 (GRCm39) |
T1674A |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,301,519 (GRCm39) |
|
probably benign |
Het |
Cfd |
A |
G |
10: 79,726,776 (GRCm39) |
Y6C |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,183,113 (GRCm39) |
K157R |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,864,870 (GRCm39) |
R786S |
possibly damaging |
Het |
Dna2 |
A |
T |
10: 62,792,815 (GRCm39) |
I277L |
probably damaging |
Het |
Gm5168 |
A |
T |
X: 25,999,005 (GRCm39) |
D50E |
probably damaging |
Het |
Grik4 |
T |
A |
9: 42,455,049 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,811,913 (GRCm39) |
|
probably benign |
Het |
Klk10 |
A |
T |
7: 43,433,882 (GRCm39) |
|
probably benign |
Het |
Kng1 |
A |
G |
16: 22,892,187 (GRCm39) |
Y250C |
probably damaging |
Het |
Las1l |
A |
T |
X: 94,981,059 (GRCm39) |
M690K |
probably benign |
Het |
Mug1 |
T |
A |
6: 121,848,295 (GRCm39) |
M673K |
probably benign |
Het |
Myh9 |
T |
C |
15: 77,654,070 (GRCm39) |
H1245R |
probably benign |
Het |
Oprk1 |
C |
T |
1: 5,669,067 (GRCm39) |
T171I |
probably damaging |
Het |
Pgm5 |
A |
T |
19: 24,801,782 (GRCm39) |
S149T |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,736,847 (GRCm39) |
N424S |
probably benign |
Het |
Plec |
A |
T |
15: 76,063,149 (GRCm39) |
L2334Q |
probably damaging |
Het |
Pus7l |
G |
A |
15: 94,438,059 (GRCm39) |
S262F |
probably damaging |
Het |
Rps24 |
C |
A |
14: 24,541,823 (GRCm39) |
D3E |
probably benign |
Het |
Rxfp1 |
T |
C |
3: 79,557,799 (GRCm39) |
N560D |
probably damaging |
Het |
Sema3c |
C |
T |
5: 17,926,923 (GRCm39) |
|
probably benign |
Het |
Slc47a2 |
A |
G |
11: 61,233,365 (GRCm39) |
F55S |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,047,309 (GRCm39) |
|
probably benign |
Het |
Taf4b |
A |
T |
18: 14,963,196 (GRCm39) |
E645D |
probably benign |
Het |
Tmem161a |
T |
A |
8: 70,631,624 (GRCm39) |
V158E |
probably damaging |
Het |
Trav13-2 |
A |
G |
14: 53,872,604 (GRCm39) |
S27G |
possibly damaging |
Het |
Trav13-2 |
G |
T |
14: 53,872,603 (GRCm39) |
Q26H |
probably damaging |
Het |
Trav13-2 |
A |
T |
14: 53,872,602 (GRCm39) |
Q26L |
possibly damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,691,608 (GRCm39) |
H305L |
probably benign |
Het |
Zfp263 |
A |
G |
16: 3,562,482 (GRCm39) |
I82V |
probably damaging |
Het |
|
Other mutations in Ift56 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00927:Ift56
|
APN |
6 |
38,359,155 (GRCm39) |
splice site |
probably benign |
|
IGL02403:Ift56
|
APN |
6 |
38,386,373 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02902:Ift56
|
APN |
6 |
38,402,097 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03189:Ift56
|
APN |
6 |
38,402,166 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03410:Ift56
|
APN |
6 |
38,362,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R0346:Ift56
|
UTSW |
6 |
38,386,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R0562:Ift56
|
UTSW |
6 |
38,378,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R0826:Ift56
|
UTSW |
6 |
38,402,049 (GRCm39) |
splice site |
probably null |
|
R1212:Ift56
|
UTSW |
6 |
38,387,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R1778:Ift56
|
UTSW |
6 |
38,386,411 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1972:Ift56
|
UTSW |
6 |
38,387,738 (GRCm39) |
missense |
probably benign |
0.20 |
R2903:Ift56
|
UTSW |
6 |
38,378,037 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2904:Ift56
|
UTSW |
6 |
38,378,037 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2905:Ift56
|
UTSW |
6 |
38,378,037 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3788:Ift56
|
UTSW |
6 |
38,380,459 (GRCm39) |
critical splice donor site |
probably null |
|
R4222:Ift56
|
UTSW |
6 |
38,372,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R4392:Ift56
|
UTSW |
6 |
38,358,492 (GRCm39) |
start gained |
probably benign |
|
R4930:Ift56
|
UTSW |
6 |
38,368,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R5484:Ift56
|
UTSW |
6 |
38,366,057 (GRCm39) |
missense |
probably benign |
0.10 |
R5920:Ift56
|
UTSW |
6 |
38,389,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Ift56
|
UTSW |
6 |
38,371,975 (GRCm39) |
missense |
probably benign |
0.22 |
R6429:Ift56
|
UTSW |
6 |
38,375,248 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6901:Ift56
|
UTSW |
6 |
38,378,079 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7448:Ift56
|
UTSW |
6 |
38,381,422 (GRCm39) |
nonsense |
probably null |
|
R7554:Ift56
|
UTSW |
6 |
38,362,435 (GRCm39) |
missense |
probably null |
1.00 |
R7650:Ift56
|
UTSW |
6 |
38,371,975 (GRCm39) |
missense |
probably benign |
0.22 |
R8319:Ift56
|
UTSW |
6 |
38,382,880 (GRCm39) |
missense |
probably damaging |
0.98 |
R9270:Ift56
|
UTSW |
6 |
38,366,109 (GRCm39) |
intron |
probably benign |
|
R9417:Ift56
|
UTSW |
6 |
38,386,386 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Ift56
|
UTSW |
6 |
38,382,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |