Incidental Mutation 'IGL03054:Tulp1'
ID |
409180 |
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: 0.527)
|
Stock # |
IGL03054 (G1)
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
28570489-28584190 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 28578287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041819]
[ENSMUST00000114794]
[ENSMUST00000123797]
[ENSMUST00000129375]
|
AlphaFold |
Q9Z273 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041819
|
SMART Domains |
Protein: ENSMUSP00000049070 Gene: ENSMUSG00000037446
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 |
probably benign
Transcript: ENSMUST00000114794
|
SMART Domains |
Protein: ENSMUSP00000110442 Gene: ENSMUSG00000037446
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: ENSMUST00000146493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140250
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142143
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150341
|
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 |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (43/44) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Acsbg3 |
A |
G |
17: 57,193,528 (GRCm39) |
T625A |
possibly damaging |
Het |
Aloxe3 |
T |
C |
11: 69,020,433 (GRCm39) |
V159A |
possibly damaging |
Het |
Atp13a2 |
T |
A |
4: 140,734,279 (GRCm39) |
C1134S |
possibly damaging |
Het |
Ccdc40 |
G |
A |
11: 119,154,027 (GRCm39) |
E1100K |
possibly damaging |
Het |
Ceacam5 |
A |
T |
7: 17,493,379 (GRCm39) |
T801S |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Col4a2 |
T |
C |
8: 11,498,270 (GRCm39) |
I1693T |
probably damaging |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Dab2 |
G |
T |
15: 6,447,707 (GRCm39) |
|
probably benign |
Het |
Dao |
T |
C |
5: 114,162,963 (GRCm39) |
L345P |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,217,722 (GRCm39) |
|
probably null |
Het |
Egr3 |
C |
T |
14: 70,316,561 (GRCm39) |
T124M |
probably damaging |
Het |
Gng7 |
G |
T |
10: 80,787,485 (GRCm39) |
F59L |
probably damaging |
Het |
Itgb4 |
C |
A |
11: 115,891,166 (GRCm39) |
Y1190* |
probably null |
Het |
Lacc1 |
T |
C |
14: 77,268,355 (GRCm39) |
M319V |
possibly damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,845,881 (GRCm39) |
T417A |
probably damaging |
Het |
Mier3 |
C |
T |
13: 111,822,848 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
A |
G |
5: 135,162,110 (GRCm39) |
D569G |
possibly damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mrpl15 |
A |
G |
1: 4,855,794 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,161,334 (GRCm39) |
N2153D |
probably damaging |
Het |
Nlrp9c |
A |
G |
7: 26,081,701 (GRCm39) |
|
probably null |
Het |
Npepps |
C |
T |
11: 97,132,614 (GRCm39) |
|
probably benign |
Het |
Or13a17 |
T |
G |
7: 140,271,623 (GRCm39) |
S268R |
probably benign |
Het |
Or1j10 |
A |
T |
2: 36,266,944 (GRCm39) |
H52L |
possibly damaging |
Het |
Or52z12 |
C |
A |
7: 103,234,047 (GRCm39) |
H273N |
probably benign |
Het |
Psmc4 |
T |
C |
7: 27,746,605 (GRCm39) |
Y160C |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,360,333 (GRCm39) |
Y131C |
probably damaging |
Het |
Riok1 |
G |
A |
13: 38,231,291 (GRCm39) |
G183D |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,376,023 (GRCm39) |
I413F |
probably damaging |
Het |
Tnfrsf22 |
A |
G |
7: 143,194,532 (GRCm39) |
Y132H |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,726,104 (GRCm39) |
|
probably benign |
Het |
Usp15 |
C |
A |
10: 122,961,836 (GRCm39) |
|
probably benign |
Het |
Wdr7 |
G |
T |
18: 63,958,192 (GRCm39) |
|
probably benign |
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 |
|
IGL03248:Tulp1
|
APN |
17 |
28,578,298 (GRCm39) |
missense |
possibly damaging |
0.87 |
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 |