Incidental Mutation 'R9593:Tulp1'
| ID |
723125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp1
|
| Ensembl Gene |
ENSMUSG00000037446 |
| Gene Name |
tubby like protein 1 |
| Synonyms |
Tulp1l |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R9593 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28570489-28584190 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 28572802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 451
(W451*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041819]
[ENSMUST00000114794]
[ENSMUST00000114799]
[ENSMUST00000123797]
[ENSMUST00000129375]
[ENSMUST00000154873]
[ENSMUST00000156862]
|
| AlphaFold |
Q9Z273 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041819
AA Change: W451*
|
| SMART Domains |
Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446
AA Change: W451*
| 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: ENSMUST00000114799
|
| SMART Domains |
Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
TEA
|
52 |
123 |
9.04e-52 |
SMART |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
244 |
N/A |
INTRINSIC |
|
PDB:3KYS|C
|
248 |
465 |
1e-120 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123797
AA Change: W173*
|
| SMART Domains |
Protein: ENSMUSP00000116588
Gene: ENSMUSG00000037446
AA Change: W173*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub
|
21 |
228 |
2.1e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129375
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148188
AA Change: W127*
|
| SMART Domains |
Protein: ENSMUSP00000116844
Gene: ENSMUSG00000037446
AA Change: W127*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub
|
5 |
214 |
8.8e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154873
|
| SMART Domains |
Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156862
|
| SMART Domains |
Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
T |
A |
1: 192,857,087 (GRCm39) |
D146E |
probably benign |
Het |
| Acaca |
C |
T |
11: 84,271,339 (GRCm39) |
Q2058* |
probably null |
Het |
| Adam39 |
T |
A |
8: 41,279,744 (GRCm39) |
C712S |
possibly damaging |
Het |
| Aipl1 |
T |
C |
11: 71,921,161 (GRCm39) |
E219G |
probably benign |
Het |
| Ankrd24 |
A |
G |
10: 81,475,898 (GRCm39) |
R301G |
unknown |
Het |
| Arhgef17 |
A |
G |
7: 100,532,009 (GRCm39) |
F272L |
probably damaging |
Het |
| B3galt2 |
T |
A |
1: 143,522,604 (GRCm39) |
Y247N |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,002,090 (GRCm39) |
V1345A |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,285,433 (GRCm39) |
E503G |
probably benign |
Het |
| Cemip2 |
T |
C |
19: 21,803,453 (GRCm39) |
S829P |
probably damaging |
Het |
| Coro1b |
T |
A |
19: 4,199,497 (GRCm39) |
V52E |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dip2c |
T |
A |
13: 9,704,683 (GRCm39) |
M1344K |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,236,774 (GRCm39) |
I367V |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,178,607 (GRCm39) |
T1807A |
probably benign |
Het |
| Dusp10 |
T |
A |
1: 183,806,643 (GRCm39) |
F459I |
probably damaging |
Het |
| Elac1 |
A |
T |
18: 73,872,089 (GRCm39) |
L302Q |
probably benign |
Het |
| Entrep3 |
T |
A |
3: 89,091,199 (GRCm39) |
S57T |
probably benign |
Het |
| Fdx2 |
A |
T |
9: 20,979,097 (GRCm39) |
Y165N |
probably damaging |
Het |
| Gabra2 |
C |
T |
5: 71,165,353 (GRCm39) |
V206I |
possibly damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,808 (GRCm39) |
E108G |
probably damaging |
Het |
| Gm29394 |
A |
G |
15: 57,932,722 (GRCm39) |
L5P |
probably benign |
Het |
| Gnb1l |
C |
T |
16: 18,362,914 (GRCm39) |
P101S |
probably benign |
Het |
| Hectd4 |
C |
A |
5: 121,424,844 (GRCm39) |
S749* |
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,244,742 (GRCm39) |
Y733C |
probably damaging |
Het |
| Inafm1 |
G |
A |
7: 16,007,059 (GRCm39) |
L53F |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,011,657 (GRCm39) |
R814H |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,778,163 (GRCm39) |
C21R |
probably benign |
Het |
| Maz |
A |
G |
7: 126,624,924 (GRCm39) |
F199L |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,187,628 (GRCm39) |
I825T |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,907,506 (GRCm39) |
T211S |
possibly damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,656,664 (GRCm39) |
Y389H |
probably damaging |
Het |
| Myo3b |
G |
A |
2: 70,075,648 (GRCm39) |
G579R |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,020,197 (GRCm39) |
V228A |
probably benign |
Het |
| Npepps |
T |
A |
11: 97,149,179 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
G |
3: 109,842,224 (GRCm39) |
L183P |
probably damaging |
Het |
| Or8c16 |
A |
G |
9: 38,130,868 (GRCm39) |
T247A |
probably benign |
Het |
| Pcdha4 |
A |
C |
18: 37,086,740 (GRCm39) |
I308L |
probably benign |
Het |
| Pear1 |
G |
T |
3: 87,658,480 (GRCm39) |
Q964K |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,059,710 (GRCm39) |
D1182E |
possibly damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,674,998 (GRCm39) |
D658E |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,524,254 (GRCm39) |
Y493C |
possibly damaging |
Het |
| Rnd1 |
A |
G |
15: 98,570,526 (GRCm39) |
W107R |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,315,839 (GRCm39) |
T1623M |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,410,564 (GRCm39) |
I288T |
probably benign |
Het |
| Slfn14 |
T |
A |
11: 83,174,733 (GRCm39) |
H86L |
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,701,828 (GRCm39) |
H1055Y |
probably damaging |
Het |
| Sox13 |
G |
A |
1: 133,316,214 (GRCm39) |
P243S |
probably damaging |
Het |
| St3gal6 |
C |
A |
16: 58,305,136 (GRCm39) |
E109* |
probably null |
Het |
| Traf4 |
T |
C |
11: 78,056,253 (GRCm39) |
D5G |
possibly damaging |
Het |
| Trank1 |
G |
T |
9: 111,191,365 (GRCm39) |
C458F |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,549,049 (GRCm39) |
F81S |
probably benign |
Het |
| Tyms |
T |
C |
5: 30,269,110 (GRCm39) |
I171V |
|
Het |
| Vmn2r115 |
T |
A |
17: 23,578,184 (GRCm39) |
N552K |
probably damaging |
Het |
| Zfp710 |
T |
A |
7: 79,730,909 (GRCm39) |
S29T |
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 |
|
|
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 |
|
|
X0024:Tulp1
|
UTSW |
17 |
28,572,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTGGTTTCTAGATTCCAGC -3'
(R):5'- ATCTGCTGATGCCTTCTGTG -3'
Sequencing Primer
(F):5'- CCTTCATCAAGGTACCATTGGG -3'
(R):5'- GGGTGGTGTGGCAGTCCAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation