Incidental Mutation 'R1593:Tulp1'
| ID |
175645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp1
|
| Ensembl Gene |
ENSMUSG00000037446 |
| Gene Name |
tubby like protein 1 |
| Synonyms |
Tulp1l |
| MMRRC Submission |
039630-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.563)
|
| Stock # |
R1593 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28570489-28584190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28581675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 233
(K233E)
|
| 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: K233E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446
AA Change: K233E
| 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: K233E
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110442
Gene: ENSMUSG00000037446
AA Change: K233E
| 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: ENSMUST00000131604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146493
|
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
T |
11: 100,372,581 (GRCm39) |
I902N |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,214,134 (GRCm39) |
D88G |
probably damaging |
Het |
| Adam1a |
A |
C |
5: 121,657,706 (GRCm39) |
I529S |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,638,435 (GRCm39) |
V838A |
unknown |
Het |
| Arrdc2 |
T |
C |
8: 71,289,764 (GRCm39) |
Y280C |
probably damaging |
Het |
| Atg10 |
T |
C |
13: 91,302,380 (GRCm39) |
T53A |
probably benign |
Het |
| Ccdc136 |
T |
C |
6: 29,415,583 (GRCm39) |
S699P |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,769,379 (GRCm39) |
V462L |
possibly damaging |
Het |
| Clcn6 |
C |
T |
4: 148,099,051 (GRCm39) |
A431T |
probably benign |
Het |
| Cntn6 |
T |
G |
6: 104,809,541 (GRCm39) |
H525Q |
possibly damaging |
Het |
| Ctr9 |
T |
C |
7: 110,642,060 (GRCm39) |
F296S |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,183,986 (GRCm39) |
|
probably null |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Epha6 |
A |
T |
16: 60,245,267 (GRCm39) |
F311I |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,798,582 (GRCm39) |
T150S |
possibly damaging |
Het |
| Exoc2 |
C |
A |
13: 31,040,744 (GRCm39) |
R758L |
possibly damaging |
Het |
| Exosc7 |
G |
C |
9: 122,961,058 (GRCm39) |
V242L |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,921,315 (GRCm39) |
D190G |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,894 (GRCm39) |
S583P |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,477,999 (GRCm39) |
Y60C |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,091,150 (GRCm39) |
I815N |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,113 (GRCm39) |
L257Q |
probably damaging |
Het |
| Hectd3 |
C |
A |
4: 116,854,217 (GRCm39) |
T289K |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,871,817 (GRCm39) |
V207A |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
| Meis2 |
T |
A |
2: 115,830,745 (GRCm39) |
D256V |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,754,686 (GRCm38) |
N1520S |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,387,281 (GRCm39) |
R719G |
probably null |
Het |
| Or6c210 |
A |
T |
10: 129,496,094 (GRCm39) |
R140* |
probably null |
Het |
| Pabpc6 |
A |
T |
17: 9,886,742 (GRCm39) |
M603K |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,486,012 (GRCm39) |
R1862L |
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,337,381 (GRCm39) |
I399N |
possibly damaging |
Het |
| Pon2 |
T |
C |
6: 5,273,003 (GRCm39) |
D122G |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,579,425 (GRCm39) |
W378R |
unknown |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,488 (GRCm39) |
E389D |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rarg |
A |
G |
15: 102,148,376 (GRCm39) |
F233L |
probably damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,453,490 (GRCm39) |
F90L |
possibly damaging |
Het |
| Rrp12 |
T |
A |
19: 41,851,680 (GRCm39) |
H1285L |
probably benign |
Het |
| Slc16a13 |
C |
A |
11: 70,109,908 (GRCm39) |
A198S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,988,059 (GRCm39) |
D441G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,414 (GRCm39) |
F1099S |
probably damaging |
Het |
| Tex19.1 |
T |
A |
11: 121,038,079 (GRCm39) |
W146R |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,418,445 (GRCm39) |
D197G |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,014,593 (GRCm39) |
H644R |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,778,910 (GRCm39) |
V352A |
possibly damaging |
Het |
| Vsir |
A |
G |
10: 60,193,737 (GRCm39) |
T67A |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,304,248 (GRCm39) |
N487S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,786 (GRCm39) |
N99S |
probably damaging |
Het |
| Zfp583 |
C |
T |
7: 6,320,008 (GRCm39) |
G335S |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,354,675 (GRCm39) |
V98E |
possibly 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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCACTGCGGATGCAACCTC -3'
(R):5'- AAGTGGCCCTCAGCTCCAAAAG -3'
Sequencing Primer
(F):5'- tcttcctcctcctccttcttc -3'
(R):5'- TGTAGGAAGCCCGGATGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation