Incidental Mutation 'IGL00927:Ift56'
ID |
27630 |
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 # |
IGL00927
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
38358404-38404582 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 38359155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159145]
[ENSMUST00000160215]
[ENSMUST00000161751]
[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: ENSMUST00000160215
|
SMART Domains |
Protein: ENSMUSP00000125097 Gene: ENSMUSG00000056832
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
29 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161751
|
SMART Domains |
Protein: ENSMUSP00000124271 Gene: ENSMUSG00000056832
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
29 |
N/A |
INTRINSIC |
Pfam:TPR_2
|
58 |
88 |
1.3e-5 |
PFAM |
Pfam:TPR_8
|
58 |
91 |
1.8e-3 |
PFAM |
Pfam:TPR_6
|
59 |
87 |
2.6e-3 |
PFAM |
Pfam:TPR_1
|
61 |
87 |
4.8e-4 |
PFAM |
Pfam:TPR_11
|
63 |
115 |
4.1e-11 |
PFAM |
Pfam:TPR_19
|
67 |
130 |
1.7e-7 |
PFAM |
Pfam:TPR_8
|
89 |
113 |
2.1e-3 |
PFAM |
Pfam:TPR_1
|
91 |
113 |
1.8e-4 |
PFAM |
Pfam:TPR_2
|
91 |
113 |
2.5e-3 |
PFAM |
Pfam:TPR_9
|
145 |
210 |
9.4e-4 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162554
|
SMART Domains |
Protein: ENSMUSP00000124369 Gene: ENSMUSG00000056832
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,099,674 (GRCm39) |
T92A |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,765,125 (GRCm39) |
S1007G |
probably benign |
Het |
Cabp4 |
A |
T |
19: 4,189,406 (GRCm39) |
S50R |
possibly damaging |
Het |
Camp |
A |
T |
9: 109,678,336 (GRCm39) |
L56Q |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,986,461 (GRCm39) |
N568S |
probably benign |
Het |
Ccr6 |
C |
A |
17: 8,474,825 (GRCm39) |
T10K |
probably benign |
Het |
Chit1 |
T |
C |
1: 134,072,992 (GRCm39) |
F106S |
probably damaging |
Het |
Cyb561d1 |
A |
G |
3: 108,106,943 (GRCm39) |
L34P |
probably damaging |
Het |
Dcun1d1 |
A |
T |
3: 35,975,114 (GRCm39) |
|
probably benign |
Het |
Deup1 |
A |
G |
9: 15,521,967 (GRCm39) |
|
probably benign |
Het |
Erich1 |
A |
G |
8: 14,083,518 (GRCm39) |
F184S |
probably damaging |
Het |
Fmnl3 |
A |
G |
15: 99,235,509 (GRCm39) |
|
probably null |
Het |
Grk2 |
T |
C |
19: 4,337,982 (GRCm39) |
N508S |
probably benign |
Het |
Herc4 |
A |
G |
10: 63,109,316 (GRCm39) |
I184V |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kif3b |
G |
A |
2: 153,158,381 (GRCm39) |
A61T |
possibly damaging |
Het |
Kmt2d |
G |
A |
15: 98,742,890 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
C |
A |
3: 157,866,727 (GRCm39) |
V1005L |
possibly damaging |
Het |
Lrrtm1 |
A |
T |
6: 77,221,046 (GRCm39) |
M168L |
probably benign |
Het |
Ndc1 |
C |
T |
4: 107,241,977 (GRCm39) |
|
probably benign |
Het |
Nphs1 |
A |
G |
7: 30,160,164 (GRCm39) |
|
probably benign |
Het |
Or52w1 |
A |
T |
7: 105,018,454 (GRCm39) |
Y298F |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,907,734 (GRCm39) |
V200A |
probably benign |
Het |
Pcdhb21 |
A |
G |
18: 37,647,606 (GRCm39) |
Y245C |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,740,918 (GRCm39) |
T1055A |
probably damaging |
Het |
Plcl2 |
C |
T |
17: 50,913,948 (GRCm39) |
S319L |
probably benign |
Het |
Plekha8 |
C |
A |
6: 54,606,822 (GRCm39) |
Y372* |
probably null |
Het |
Ralb |
T |
A |
1: 119,399,506 (GRCm39) |
N184I |
probably benign |
Het |
Robo3 |
C |
T |
9: 37,339,050 (GRCm39) |
|
probably null |
Het |
Slc41a1 |
T |
A |
1: 131,766,914 (GRCm39) |
L144H |
probably damaging |
Het |
Smg1 |
C |
T |
7: 117,739,855 (GRCm39) |
G3364D |
probably damaging |
Het |
Spmap2 |
A |
G |
10: 79,412,433 (GRCm39) |
S329P |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,216 (GRCm39) |
V36D |
possibly damaging |
Het |
Zbtb7c |
T |
C |
18: 76,278,921 (GRCm39) |
S460P |
possibly damaging |
Het |
Zscan30 |
T |
C |
18: 24,104,834 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Ift56 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02049:Ift56
|
APN |
6 |
38,402,067 (GRCm39) |
missense |
probably benign |
0.16 |
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 |
2013-04-17 |