Incidental Mutation 'R6773:Tulp1'
| ID |
532263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp1
|
| Ensembl Gene |
ENSMUSG00000037446 |
| Gene Name |
tubby like protein 1 |
| Synonyms |
Tulp1l |
| MMRRC Submission |
044889-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R6773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28570489-28584190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28581876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 193
(K193E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041819]
[ENSMUST00000114794]
[ENSMUST00000123797]
[ENSMUST00000129375]
|
| AlphaFold |
Q9Z273 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041819
AA Change: K193E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446
AA Change: K193E
| 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: K193E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110442
Gene: ENSMUSG00000037446
AA Change: K193E
| 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 |
probably benign
Transcript: ENSMUST00000129375
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
A |
3: 92,336,556 (GRCm39) |
I49F |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,500,558 (GRCm39) |
D161G |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,979,477 (GRCm39) |
N319K |
possibly damaging |
Het |
| Asns |
C |
A |
6: 7,676,284 (GRCm39) |
R424L |
probably benign |
Het |
| Atp4a |
T |
C |
7: 30,414,802 (GRCm39) |
V197A |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,321 (GRCm39) |
E37G |
probably damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,826,409 (GRCm39) |
V1102E |
possibly damaging |
Het |
| Cd82 |
G |
A |
2: 93,252,221 (GRCm39) |
A130V |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,222,477 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
A |
C |
5: 96,242,158 (GRCm39) |
C188W |
probably damaging |
Het |
| Cxcr6 |
A |
T |
9: 123,639,355 (GRCm39) |
T119S |
possibly damaging |
Het |
| Dok7 |
G |
A |
5: 35,234,528 (GRCm39) |
R193H |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,352,068 (GRCm39) |
S386T |
probably damaging |
Het |
| Frem3 |
A |
C |
8: 81,338,444 (GRCm39) |
T246P |
probably damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,360 (GRCm39) |
I67K |
unknown |
Het |
| Gpr153 |
T |
A |
4: 152,363,757 (GRCm39) |
V59E |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 82,583,249 (GRCm39) |
|
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,482 (GRCm39) |
I247V |
possibly damaging |
Het |
| Klri1 |
C |
T |
6: 129,680,510 (GRCm39) |
V91M |
possibly damaging |
Het |
| M1ap |
T |
A |
6: 82,945,061 (GRCm39) |
D118E |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,863,993 (GRCm39) |
V406A |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,300,622 (GRCm39) |
V369A |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,165,579 (GRCm39) |
L162I |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,370,435 (GRCm39) |
Y71C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,790,461 (GRCm39) |
N1044D |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,155,639 (GRCm39) |
M114K |
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,171,082 (GRCm39) |
D114G |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,570,516 (GRCm39) |
V1268D |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,598,578 (GRCm39) |
|
probably benign |
Het |
| Rimbp3 |
A |
T |
16: 17,026,879 (GRCm39) |
E101V |
probably damaging |
Het |
| Rit1 |
C |
T |
3: 88,633,676 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Shisa9 |
A |
G |
16: 11,802,892 (GRCm39) |
T150A |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,678,533 (GRCm39) |
V112A |
probably damaging |
Het |
| Strada |
T |
A |
11: 106,055,733 (GRCm39) |
I305F |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,049,146 (GRCm39) |
E3454K |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tmem259 |
T |
C |
10: 79,813,422 (GRCm39) |
D519G |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,866 (GRCm39) |
Q445R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,220,891 (GRCm39) |
D20G |
possibly damaging |
Het |
| Trbv5 |
G |
T |
6: 41,039,551 (GRCm39) |
W52L |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,690,702 (GRCm39) |
V2459A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,592,560 (GRCm39) |
V731A |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCAGGAACATGGCTGCTG -3'
(R):5'- CGAGACCAATAGACTCGTCTG -3'
Sequencing Primer
(F):5'- ACATGGCTGCTGGAAACTC -3'
(R):5'- AGACCAATAGACTCGTCTGGCTTTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation