Incidental Mutation 'IGL00428:Tulp4'
| ID |
5782 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tulp4
|
| Ensembl Gene |
ENSMUSG00000034377 |
| Gene Name |
tubby like protein 4 |
| Synonyms |
2210038L17Rik, 1110057P05Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.677)
|
| Stock # |
IGL00428
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
6156528-6290912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6189351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 58
(T58A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039655]
[ENSMUST00000142030]
[ENSMUST00000149756]
|
| AlphaFold |
Q9JIL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039655
AA Change: T58A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: T58A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
71 |
110 |
2.49e-1 |
SMART |
|
Blast:WD40
|
113 |
153 |
9e-21 |
BLAST |
|
WD40
|
159 |
195 |
1.84e1 |
SMART |
|
low complexity region
|
226 |
238 |
N/A |
INTRINSIC |
|
Blast:WD40
|
275 |
306 |
8e-8 |
BLAST |
|
Blast:WD40
|
330 |
371 |
1e-14 |
BLAST |
|
SOCS_box
|
374 |
411 |
2.31e-1 |
SMART |
|
SCOP:d1c8za_
|
418 |
505 |
1e-18 |
SMART |
|
low complexity region
|
509 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
547 |
N/A |
INTRINSIC |
|
SCOP:d1c8za_
|
594 |
669 |
8e-12 |
SMART |
|
low complexity region
|
770 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
864 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1026 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1174 |
1181 |
N/A |
INTRINSIC |
|
low complexity region
|
1188 |
1197 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
1346 |
1543 |
2e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141059
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142030
|
| SMART Domains |
Protein: ENSMUSP00000120358
Gene: ENSMUSG00000034377
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149756
|
| SMART Domains |
Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
Blast:WD40
|
82 |
113 |
6e-8 |
BLAST |
|
Blast:WD40
|
137 |
178 |
1e-14 |
BLAST |
|
SOCS_box
|
181 |
218 |
2.31e-1 |
SMART |
|
SCOP:d1c8za_
|
225 |
312 |
2e-18 |
SMART |
|
low complexity region
|
316 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
354 |
N/A |
INTRINSIC |
|
SCOP:d1c8za_
|
401 |
476 |
9e-12 |
SMART |
|
low complexity region
|
577 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
988 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1004 |
N/A |
INTRINSIC |
|
coiled coil region
|
1187 |
1215 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
1224 |
1350 |
5.3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152672
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
G |
A |
10: 14,343,119 (GRCm39) |
P276L |
probably benign |
Het |
| Asap1 |
G |
A |
15: 63,991,803 (GRCm39) |
|
probably benign |
Het |
| Axl |
T |
C |
7: 25,460,297 (GRCm39) |
T723A |
probably damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,876 (GRCm39) |
N3491S |
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,085,535 (GRCm39) |
K503E |
probably benign |
Het |
| Cbln4 |
A |
G |
2: 171,880,970 (GRCm39) |
V108A |
probably benign |
Het |
| Ccdc71 |
C |
T |
9: 108,341,354 (GRCm39) |
T389M |
probably damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,508,452 (GRCm39) |
T393A |
unknown |
Het |
| Cdh20 |
A |
T |
1: 104,881,612 (GRCm39) |
H359L |
probably benign |
Het |
| Cfap119 |
A |
T |
7: 127,184,210 (GRCm39) |
S229T |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,452,500 (GRCm39) |
V364M |
possibly damaging |
Het |
| Ctsq |
A |
T |
13: 61,185,528 (GRCm39) |
N204K |
probably damaging |
Het |
| Dnaja3 |
C |
T |
16: 4,512,309 (GRCm39) |
R238C |
probably damaging |
Het |
| Dynlt1a |
C |
T |
17: 6,362,062 (GRCm39) |
V39I |
possibly damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,478 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,455,114 (GRCm39) |
Y583C |
probably damaging |
Het |
| Invs |
T |
C |
4: 48,402,909 (GRCm39) |
F514S |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,833,750 (GRCm39) |
C484S |
probably benign |
Het |
| Masp1 |
A |
G |
16: 23,295,062 (GRCm39) |
Y400H |
probably damaging |
Het |
| Olfml3 |
G |
A |
3: 103,644,298 (GRCm39) |
|
probably null |
Het |
| Pard3b |
T |
C |
1: 62,200,357 (GRCm39) |
S299P |
probably damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,623 (GRCm39) |
E194D |
possibly damaging |
Het |
| Pip5k1c |
A |
T |
10: 81,141,545 (GRCm39) |
T78S |
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,304,877 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,422,823 (GRCm39) |
N11D |
probably benign |
Het |
| Slc10a6 |
G |
A |
5: 103,760,362 (GRCm39) |
T211I |
probably benign |
Het |
| Smim8 |
T |
C |
4: 34,769,006 (GRCm39) |
T93A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,645,273 (GRCm39) |
I774M |
probably benign |
Het |
| Virma |
T |
C |
4: 11,519,424 (GRCm39) |
|
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,970,177 (GRCm39) |
D210G |
probably damaging |
Het |
| Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
probably benign |
Het |
|
| Other mutations in Tulp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02503:Tulp4
|
APN |
17 |
6,263,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03012:Tulp4
|
APN |
17 |
6,263,654 (GRCm39) |
splice site |
probably benign |
|
|
IGL03219:Tulp4
|
APN |
17 |
6,189,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tuba_mirum
|
UTSW |
17 |
6,252,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Tulp4
|
UTSW |
17 |
6,252,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0066:Tulp4
|
UTSW |
17 |
6,252,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0711:Tulp4
|
UTSW |
17 |
6,189,387 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1718:Tulp4
|
UTSW |
17 |
6,272,715 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1736:Tulp4
|
UTSW |
17 |
6,283,490 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1775:Tulp4
|
UTSW |
17 |
6,189,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1793:Tulp4
|
UTSW |
17 |
6,189,387 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3160:Tulp4
|
UTSW |
17 |
6,248,983 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R3162:Tulp4
|
UTSW |
17 |
6,248,983 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R3431:Tulp4
|
UTSW |
17 |
6,257,239 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4081:Tulp4
|
UTSW |
17 |
6,282,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4082:Tulp4
|
UTSW |
17 |
6,282,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Tulp4
|
UTSW |
17 |
6,249,108 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4963:Tulp4
|
UTSW |
17 |
6,249,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Tulp4
|
UTSW |
17 |
6,249,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Tulp4
|
UTSW |
17 |
6,286,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:Tulp4
|
UTSW |
17 |
6,283,490 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6275:Tulp4
|
UTSW |
17 |
6,249,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Tulp4
|
UTSW |
17 |
6,252,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6587:Tulp4
|
UTSW |
17 |
6,282,146 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6680:Tulp4
|
UTSW |
17 |
6,189,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Tulp4
|
UTSW |
17 |
6,264,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7068:Tulp4
|
UTSW |
17 |
6,235,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Tulp4
|
UTSW |
17 |
6,282,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Tulp4
|
UTSW |
17 |
6,282,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Tulp4
|
UTSW |
17 |
6,282,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Tulp4
|
UTSW |
17 |
6,282,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Tulp4
|
UTSW |
17 |
6,286,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7438:Tulp4
|
UTSW |
17 |
6,248,983 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7750:Tulp4
|
UTSW |
17 |
6,283,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Tulp4
|
UTSW |
17 |
6,257,333 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8772:Tulp4
|
UTSW |
17 |
6,227,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Tulp4
|
UTSW |
17 |
6,189,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8849:Tulp4
|
UTSW |
17 |
6,272,656 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9027:Tulp4
|
UTSW |
17 |
6,283,472 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9448:Tulp4
|
UTSW |
17 |
6,248,948 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9681:Tulp4
|
UTSW |
17 |
6,274,500 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9748:Tulp4
|
UTSW |
17 |
6,291,480 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0067:Tulp4
|
UTSW |
17 |
6,257,198 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Tulp4
|
UTSW |
17 |
6,274,480 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation