Incidental Mutation 'R3930:Tulp1'
| ID |
308448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp1
|
| Ensembl Gene |
ENSMUSG00000037446 |
| Gene Name |
tubby like protein 1 |
| Synonyms |
Tulp1l |
| MMRRC Submission |
040917-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.563)
|
| Stock # |
R3930 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28570489-28584190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28572683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 213
(N213S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041819]
[ENSMUST00000114794]
[ENSMUST00000114799]
[ENSMUST00000123797]
[ENSMUST00000129375]
[ENSMUST00000156862]
[ENSMUST00000154873]
|
| AlphaFold |
Q9Z273 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041819
AA Change: N491S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446
AA Change: N491S
| 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 damaging
Transcript: ENSMUST00000123797
AA Change: N213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116588
Gene: ENSMUSG00000037446
AA Change: N213S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub
|
21 |
228 |
2.1e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142143
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148188
AA Change: N167S
|
| SMART Domains |
Protein: ENSMUSP00000116844
Gene: ENSMUSG00000037446
AA Change: N167S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub
|
5 |
214 |
8.8e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131604
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9201 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (58/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
C |
T |
4: 144,396,698 (GRCm39) |
E345K |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,057,242 (GRCm39) |
N400S |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,044,377 (GRCm39) |
S22T |
probably benign |
Het |
| Cyp4a10 |
G |
T |
4: 115,381,980 (GRCm39) |
V221L |
probably benign |
Het |
| D1Pas1 |
G |
T |
1: 186,700,477 (GRCm39) |
W135C |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
C |
1: 161,911,699 (GRCm39) |
D66G |
probably damaging |
Het |
| Fzd10 |
G |
A |
5: 128,679,476 (GRCm39) |
V399M |
probably damaging |
Het |
| Gm10801 |
T |
A |
2: 98,494,361 (GRCm39) |
I146N |
possibly damaging |
Het |
| Gm525 |
T |
A |
11: 88,965,830 (GRCm39) |
|
probably null |
Het |
| Gpr37l1 |
T |
C |
1: 135,089,100 (GRCm39) |
I322V |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,371,794 (GRCm39) |
S679R |
probably damaging |
Het |
| Gyg1 |
A |
T |
3: 20,209,189 (GRCm39) |
S15T |
probably benign |
Het |
| Hace1 |
G |
A |
10: 45,587,604 (GRCm39) |
C901Y |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
C |
T |
4: 137,949,018 (GRCm39) |
A27V |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,924,716 (GRCm39) |
I1034V |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,371,802 (GRCm39) |
T1159A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Lrrc45 |
C |
T |
11: 120,609,503 (GRCm39) |
A422V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,651,664 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
T |
C |
17: 12,454,880 (GRCm39) |
H1370R |
possibly damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nfkbil1 |
G |
T |
17: 35,439,932 (GRCm39) |
Q194K |
probably benign |
Het |
| Nin |
C |
T |
12: 70,125,016 (GRCm39) |
G102E |
probably damaging |
Het |
| Nmt1 |
T |
C |
11: 102,943,059 (GRCm39) |
V138A |
probably benign |
Het |
| Optc |
T |
A |
1: 133,828,920 (GRCm39) |
R176* |
probably null |
Het |
| Or10aa3 |
A |
T |
1: 173,878,076 (GRCm39) |
I46F |
probably damaging |
Het |
| Or4c110 |
A |
G |
2: 88,832,377 (GRCm39) |
F85S |
probably benign |
Het |
| Or52ae9 |
A |
C |
7: 103,389,794 (GRCm39) |
Y218D |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Plxna2 |
G |
A |
1: 194,477,218 (GRCm39) |
A1243T |
probably benign |
Het |
| Rin1 |
G |
T |
19: 5,103,002 (GRCm39) |
L430F |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,070,944 (GRCm39) |
S37T |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,983,732 (GRCm39) |
Q27K |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Sfrp5 |
T |
G |
19: 42,190,257 (GRCm39) |
Y65S |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,023,820 (GRCm39) |
L472I |
probably benign |
Het |
| Slc35d3 |
T |
C |
10: 19,724,605 (GRCm39) |
E417G |
probably damaging |
Het |
| Sumf2 |
A |
G |
5: 129,878,820 (GRCm39) |
D52G |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,781,447 (GRCm39) |
N801S |
possibly damaging |
Het |
| Taf7l2 |
G |
T |
10: 115,948,540 (GRCm39) |
Q329K |
possibly damaging |
Het |
| Tcstv2c |
G |
A |
13: 120,616,368 (GRCm39) |
C69Y |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,854,398 (GRCm39) |
F210S |
probably damaging |
Het |
| Tnks |
T |
A |
8: 35,407,966 (GRCm39) |
H254L |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,237 (GRCm39) |
V451E |
probably benign |
Het |
| Trim43a |
A |
T |
9: 88,465,131 (GRCm39) |
I153F |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,746,951 (GRCm39) |
D830G |
probably benign |
Het |
| Uqcc3 |
C |
T |
19: 8,858,069 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
A |
6: 124,002,938 (GRCm39) |
M116K |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,552,800 (GRCm39) |
Q208R |
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 |
|
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'- GTGGTTTCTAGATTCCAGCATCC -3'
(R):5'- AGTCCAGTCTGAACACCAGC -3'
Sequencing Primer
(F):5'- AGCATCCTTCCCTTCATCAAG -3'
(R):5'- ACACATCCTGGCCCCTGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation