Incidental Mutation 'R1212:Ift56'
| ID |
99440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift56
|
| Ensembl Gene |
ENSMUSG00000056832 |
| Gene Name |
intraflagellar transport 56 |
| Synonyms |
hpy, hydrocephalic-polydactyl, 9430097H08Rik, hop, Ttc26 |
| MMRRC Submission |
039281-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.583)
|
| Stock # |
R1212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
38358404-38404582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38387728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 393
(D393G)
|
| 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 damaging
Transcript: ENSMUST00000162554
AA Change: D393G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124369
Gene: ENSMUSG00000056832
AA Change: D393G
| 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 |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.2%
- 20x: 82.9%
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
G |
A |
2: 91,599,381 (GRCm39) |
R167H |
possibly damaging |
Het |
| Ankrd50 |
G |
A |
3: 38,509,836 (GRCm39) |
R844C |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,286,784 (GRCm39) |
E42G |
probably benign |
Het |
| Arhgap42 |
T |
A |
9: 9,015,313 (GRCm39) |
I444F |
probably damaging |
Het |
| Cspg4b |
G |
A |
13: 113,505,951 (GRCm39) |
|
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,806,823 (GRCm39) |
I563N |
probably damaging |
Het |
| Il25 |
G |
A |
14: 55,170,212 (GRCm39) |
|
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,046,291 (GRCm39) |
L105P |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,199,902 (GRCm39) |
V1214A |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 59,039,322 (GRCm39) |
D39G |
probably damaging |
Het |
| Supt16 |
G |
A |
14: 52,411,581 (GRCm39) |
R601* |
probably null |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,356 (GRCm39) |
R49S |
probably benign |
Het |
| Vmn1r64 |
C |
T |
7: 5,887,210 (GRCm39) |
S111N |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation