Incidental Mutation 'R5159:Tulp1'
| ID |
455919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp1
|
| Ensembl Gene |
ENSMUSG00000037446 |
| Gene Name |
tubby like protein 1 |
| Synonyms |
Tulp1l |
| MMRRC Submission |
042741-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.563)
|
| Stock # |
R5159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28570489-28584190 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 28578034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041819]
[ENSMUST00000041819]
[ENSMUST00000114794]
[ENSMUST00000114794]
[ENSMUST00000123797]
[ENSMUST00000129375]
|
| AlphaFold |
Q9Z273 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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: ENSMUST00000142143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146493
|
| 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 |
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (63/63) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,352 (GRCm39) |
T412A |
probably benign |
Het |
| Aldh5a1 |
T |
A |
13: 25,097,776 (GRCm39) |
M420L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,884,711 (GRCm39) |
S77P |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,856,317 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
A |
G |
17: 28,100,530 (GRCm39) |
H323R |
probably damaging |
Het |
| Bmp5 |
T |
A |
9: 75,801,035 (GRCm39) |
F388L |
probably damaging |
Het |
| Brca2 |
T |
G |
5: 150,465,573 (GRCm39) |
V1779G |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,932,483 (GRCm39) |
S147T |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,519,233 (GRCm39) |
E409G |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,632,886 (GRCm39) |
R29W |
probably damaging |
Het |
| Clic6 |
T |
A |
16: 92,324,954 (GRCm39) |
Y371N |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,425,991 (GRCm39) |
|
probably null |
Het |
| Coro1a |
A |
T |
7: 126,302,221 (GRCm39) |
V42D |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Crb1 |
A |
C |
1: 139,170,756 (GRCm39) |
V817G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,549,378 (GRCm39) |
T299A |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,029,738 (GRCm39) |
R1019C |
probably benign |
Het |
| Exoc8 |
T |
C |
8: 125,622,952 (GRCm39) |
T472A |
probably benign |
Het |
| Fancc |
A |
G |
13: 63,469,679 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,852,733 (GRCm39) |
M1340K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,604,064 (GRCm39) |
L244P |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,831 (GRCm39) |
N424S |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,875 (GRCm39) |
D261G |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,720,192 (GRCm39) |
I272L |
probably benign |
Het |
| Lpcat3 |
A |
G |
6: 124,676,357 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,236 (GRCm39) |
D304G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,774,008 (GRCm39) |
I5540V |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,970,563 (GRCm39) |
S231G |
probably benign |
Het |
| Mup8 |
G |
A |
4: 60,221,062 (GRCm39) |
T101M |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,179,179 (GRCm39) |
I524T |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,589,189 (GRCm39) |
C1679R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,416 (GRCm39) |
S456P |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,719 (GRCm39) |
N389S |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,617,507 (GRCm39) |
S620R |
probably benign |
Het |
| Plod3 |
T |
A |
5: 137,023,932 (GRCm39) |
|
probably benign |
Het |
| Por |
A |
T |
5: 135,759,771 (GRCm39) |
Q194L |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,780,646 (GRCm39) |
Y396N |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,935,053 (GRCm39) |
|
probably null |
Het |
| Rcan3 |
C |
T |
4: 135,152,592 (GRCm39) |
S43N |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,098 (GRCm39) |
T31A |
probably damaging |
Het |
| Rnps1 |
T |
G |
17: 24,637,486 (GRCm39) |
S43A |
unknown |
Het |
| Rp1 |
T |
C |
1: 4,416,426 (GRCm39) |
D1562G |
possibly damaging |
Het |
| Rps19-ps13 |
A |
G |
18: 40,859,428 (GRCm39) |
|
noncoding transcript |
Het |
| Serpina3c |
A |
T |
12: 104,115,771 (GRCm39) |
S258T |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,460,181 (GRCm39) |
R519Q |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,787,885 (GRCm39) |
T955A |
probably benign |
Het |
| Stfa3 |
T |
C |
16: 36,272,581 (GRCm39) |
K40E |
probably damaging |
Het |
| Tmem87b |
A |
G |
2: 128,666,378 (GRCm39) |
E75G |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,298 (GRCm39) |
Q595R |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trat1 |
T |
C |
16: 48,555,300 (GRCm39) |
D144G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,358 (GRCm39) |
V15A |
probably benign |
Het |
| Txndc15 |
T |
A |
13: 55,865,734 (GRCm39) |
M66K |
probably benign |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,775 (GRCm39) |
N144I |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,353,796 (GRCm39) |
T113A |
probably benign |
Het |
| Xpo5 |
A |
C |
17: 46,528,535 (GRCm39) |
E313D |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTCCTAGACACCGGCC -3'
(R):5'- CTGGCTGATGCACCGTCTG -3'
Sequencing Primer
(F):5'- TAGACTCCCCCAGCCCTAG -3'
(R):5'- TGATGCACCGTCTGCCCAC -3'
|
| Posted On |
2017-02-14 |
Incidental Mutation