Incidental Mutation 'IGL03248:Tulp1'
| ID |
414491 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tulp1
|
| Ensembl Gene |
ENSMUSG00000037446 |
| Gene Name |
tubby like protein 1 |
| Synonyms |
Tulp1l |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.563)
|
| Stock # |
IGL03248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28570489-28584190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28578298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 276
(K276E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041819]
[ENSMUST00000114794]
[ENSMUST00000123797]
[ENSMUST00000129375]
|
| AlphaFold |
Q9Z273 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041819
AA Change: K276E
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446
AA Change: K276E
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
17 |
65 |
8.47e-7 |
PROSPERO |
|
low complexity region
|
111 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
160 |
212 |
8.47e-7 |
PROSPERO |
|
coiled coil region
|
242 |
266 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
299 |
537 |
1.8e-82 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114794
AA Change: K276E
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110442
Gene: ENSMUSG00000037446
AA Change: K276E
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
17 |
65 |
8.5e-7 |
PROSPERO |
|
low complexity region
|
111 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
160 |
212 |
8.5e-7 |
PROSPERO |
|
coiled coil region
|
242 |
266 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
299 |
449 |
3.4e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123797
|
| SMART Domains |
Protein: ENSMUSP00000116588
Gene: ENSMUSG00000037446
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub
|
21 |
228 |
2.1e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148188
|
| SMART Domains |
Protein: ENSMUSP00000116844
Gene: ENSMUSG00000037446
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub
|
5 |
214 |
8.8e-76 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous mutant mice exhibit retinal degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,290 (GRCm39) |
F116S |
probably damaging |
Het |
| Accsl |
A |
G |
2: 93,693,129 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
T |
A |
3: 148,523,036 (GRCm39) |
E165V |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,609,573 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,978,847 (GRCm39) |
V38A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,664,530 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,159,235 (GRCm39) |
R154H |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,868,844 (GRCm39) |
Y112H |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,923 (GRCm39) |
T241I |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,530,206 (GRCm39) |
S1215G |
probably benign |
Het |
| Ddx21 |
C |
T |
10: 62,427,769 (GRCm39) |
R378Q |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,846 (GRCm39) |
L3052Q |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,861,016 (GRCm39) |
T445K |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,945,457 (GRCm39) |
W291R |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 190,757,939 (GRCm39) |
W76R |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,046,455 (GRCm39) |
I132V |
possibly damaging |
Het |
| Gnb4 |
T |
C |
3: 32,639,324 (GRCm39) |
D323G |
probably damaging |
Het |
| Hnrnpc |
G |
A |
14: 52,312,896 (GRCm39) |
|
probably benign |
Het |
| Hnrnpl |
T |
C |
7: 28,513,505 (GRCm39) |
S202P |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,321,921 (GRCm39) |
F4524L |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,023,629 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,107,341 (GRCm39) |
|
probably null |
Het |
| Itga8 |
C |
A |
2: 12,137,327 (GRCm39) |
A13S |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,020,606 (GRCm39) |
F794S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,032,716 (GRCm39) |
L411P |
probably damaging |
Het |
| Or51f23 |
C |
T |
7: 102,452,846 (GRCm39) |
Q54* |
probably null |
Het |
| Plin1 |
C |
T |
7: 79,372,382 (GRCm39) |
V86I |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,099,324 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
C |
T |
5: 93,100,399 (GRCm39) |
P1473S |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,371,397 (GRCm39) |
I178V |
probably damaging |
Het |
| Slc20a2 |
T |
A |
8: 23,048,999 (GRCm39) |
S219T |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,198,649 (GRCm39) |
T1327I |
probably damaging |
Het |
| Tfeb |
T |
C |
17: 48,097,920 (GRCm39) |
M36T |
probably benign |
Het |
| Trim33 |
G |
A |
3: 103,218,289 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
A |
G |
4: 132,049,114 (GRCm39) |
Y30H |
probably damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,160 (GRCm39) |
I340N |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,897 (GRCm39) |
N293I |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,481,565 (GRCm39) |
N250S |
probably damaging |
Het |
| Ybey |
T |
C |
10: 76,304,161 (GRCm39) |
I14V |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,673,182 (GRCm39) |
Y1411H |
probably damaging |
Het |
|
| Other mutations in Tulp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01952:Tulp1
|
APN |
17 |
28,575,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01955:Tulp1
|
APN |
17 |
28,575,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02388:Tulp1
|
APN |
17 |
28,577,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02511:Tulp1
|
APN |
17 |
28,575,142 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02973:Tulp1
|
APN |
17 |
28,577,516 (GRCm39) |
splice site |
probably benign |
|
|
IGL03054:Tulp1
|
APN |
17 |
28,578,287 (GRCm39) |
unclassified |
probably benign |
|
|
BB006:Tulp1
|
UTSW |
17 |
28,572,746 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
BB016:Tulp1
|
UTSW |
17 |
28,572,746 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1017:Tulp1
|
UTSW |
17 |
28,583,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Tulp1
|
UTSW |
17 |
28,581,645 (GRCm39) |
unclassified |
probably benign |
|
|
R1593:Tulp1
|
UTSW |
17 |
28,581,675 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1826:Tulp1
|
UTSW |
17 |
28,575,341 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2323:Tulp1
|
UTSW |
17 |
28,581,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:Tulp1
|
UTSW |
17 |
28,572,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:Tulp1
|
UTSW |
17 |
28,572,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Tulp1
|
UTSW |
17 |
28,572,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Tulp1
|
UTSW |
17 |
28,570,811 (GRCm39) |
unclassified |
probably benign |
|
|
R4823:Tulp1
|
UTSW |
17 |
28,572,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4916:Tulp1
|
UTSW |
17 |
28,578,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Tulp1
|
UTSW |
17 |
28,570,969 (GRCm39) |
nonsense |
probably null |
|
|
R5159:Tulp1
|
UTSW |
17 |
28,578,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5249:Tulp1
|
UTSW |
17 |
28,581,651 (GRCm39) |
unclassified |
probably benign |
|
|
R5567:Tulp1
|
UTSW |
17 |
28,578,172 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6072:Tulp1
|
UTSW |
17 |
28,582,758 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6127:Tulp1
|
UTSW |
17 |
28,575,124 (GRCm39) |
missense |
probably benign |
|
|
R6207:Tulp1
|
UTSW |
17 |
28,577,651 (GRCm39) |
unclassified |
probably benign |
|
|
R6416:Tulp1
|
UTSW |
17 |
28,575,005 (GRCm39) |
makesense |
probably null |
|
|
R6773:Tulp1
|
UTSW |
17 |
28,581,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Tulp1
|
UTSW |
17 |
28,582,379 (GRCm39) |
splice site |
probably null |
|
|
R7323:Tulp1
|
UTSW |
17 |
28,575,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Tulp1
|
UTSW |
17 |
28,582,729 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7929:Tulp1
|
UTSW |
17 |
28,572,746 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8195:Tulp1
|
UTSW |
17 |
28,583,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8546:Tulp1
|
UTSW |
17 |
28,582,710 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8930:Tulp1
|
UTSW |
17 |
28,583,468 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8932:Tulp1
|
UTSW |
17 |
28,583,468 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9292:Tulp1
|
UTSW |
17 |
28,582,738 (GRCm39) |
nonsense |
probably null |
|
|
R9593:Tulp1
|
UTSW |
17 |
28,572,802 (GRCm39) |
nonsense |
probably null |
|
|
X0024:Tulp1
|
UTSW |
17 |
28,572,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation