Incidental Mutation 'IGL01952:Tulp1'
ID |
279197 |
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 # |
IGL01952
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
28570489-28584190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 28575398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 103
(T103M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041819]
[ENSMUST00000114794]
[ENSMUST00000123797]
[ENSMUST00000129375]
|
AlphaFold |
Q9Z273 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041819
AA Change: T381M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049070 Gene: ENSMUSG00000037446 AA Change: T381M
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 damaging
Transcript: ENSMUST00000114794
AA Change: T381M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110442 Gene: ENSMUSG00000037446 AA Change: T381M
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 damaging
Transcript: ENSMUST00000123797
AA Change: T103M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116588 Gene: ENSMUSG00000037446 AA Change: T103M
Domain | Start | End | E-Value | Type |
Pfam:Tub
|
21 |
228 |
2.1e-88 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129375
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130877
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131604
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000116844 Gene: ENSMUSG00000037446 AA Change: T57M
Domain | Start | End | E-Value | Type |
Pfam:Tub
|
5 |
214 |
8.8e-76 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140250
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142143
|
Meta Mutation Damage Score |
0.8814 |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Astl |
T |
C |
2: 127,184,398 (GRCm39) |
|
probably null |
Het |
Bod1l |
C |
T |
5: 41,974,297 (GRCm39) |
C2339Y |
possibly damaging |
Het |
Celsr1 |
T |
A |
15: 85,847,424 (GRCm39) |
I1438F |
probably benign |
Het |
Dbr1 |
T |
A |
9: 99,464,465 (GRCm39) |
N297K |
possibly damaging |
Het |
Dmxl1 |
A |
G |
18: 50,023,721 (GRCm39) |
H1668R |
probably benign |
Het |
Dnai3 |
T |
C |
3: 145,802,918 (GRCm39) |
H91R |
probably damaging |
Het |
Dnajb11 |
A |
G |
16: 22,684,250 (GRCm39) |
E91G |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Grin2d |
C |
A |
7: 45,511,704 (GRCm39) |
R247L |
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hacl1 |
C |
T |
14: 31,363,079 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,018,075 (GRCm39) |
T1854K |
possibly damaging |
Het |
Htr1d |
T |
C |
4: 136,170,872 (GRCm39) |
V367A |
probably benign |
Het |
Ifi208 |
T |
C |
1: 173,506,597 (GRCm39) |
S127P |
possibly damaging |
Het |
Ifngr2 |
C |
T |
16: 91,356,876 (GRCm39) |
P137S |
probably damaging |
Het |
Lcn9 |
T |
C |
2: 25,714,550 (GRCm39) |
L138P |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,723,657 (GRCm39) |
V2531A |
possibly damaging |
Het |
Meioc |
A |
T |
11: 102,563,011 (GRCm39) |
I70F |
possibly damaging |
Het |
Mideas |
G |
A |
12: 84,220,040 (GRCm39) |
P305S |
probably benign |
Het |
Mlph |
A |
C |
1: 90,861,193 (GRCm39) |
D276A |
probably benign |
Het |
Myh1 |
T |
A |
11: 67,111,218 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
G |
A |
7: 26,257,444 (GRCm39) |
S265N |
probably benign |
Het |
Ofcc1 |
G |
A |
13: 40,434,337 (GRCm39) |
A22V |
probably damaging |
Het |
Or11j4 |
T |
A |
14: 50,630,860 (GRCm39) |
F216I |
probably benign |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Prlr |
A |
G |
15: 10,328,428 (GRCm39) |
D301G |
possibly damaging |
Het |
Ptk2 |
T |
C |
15: 73,101,780 (GRCm39) |
E810G |
probably damaging |
Het |
Slco1b2 |
T |
G |
6: 141,616,956 (GRCm39) |
F430V |
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Supt6 |
T |
C |
11: 78,116,586 (GRCm39) |
K646R |
probably benign |
Het |
Tmem260 |
C |
T |
14: 48,709,933 (GRCm39) |
A52V |
probably damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Vwa5b1 |
G |
A |
4: 138,308,528 (GRCm39) |
P770S |
probably benign |
Het |
Zfp639 |
A |
G |
3: 32,569,496 (GRCm39) |
Y18C |
probably damaging |
Het |
|
Other mutations in Tulp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2015-04-16 |