Incidental Mutation 'R7230:Tulp4'
ID |
562436 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tulp4
|
Ensembl Gene |
ENSMUSG00000034377 |
Gene Name |
tubby like protein 4 |
Synonyms |
2210038L17Rik, 1110057P05Rik |
MMRRC Submission |
045302-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.677)
|
Stock # |
R7230 (G1)
|
Quality Score |
104.008 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
6156528-6290912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 6282055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 695
(H695Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049248
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039655]
[ENSMUST00000149756]
|
AlphaFold |
Q9JIL5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039655
AA Change: H695Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049248 Gene: ENSMUSG00000034377 AA Change: H695Y
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 |
probably benign
Transcript: ENSMUST00000137063
|
SMART Domains |
Protein: ENSMUSP00000123119 Gene: ENSMUSG00000034377
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
42 |
N/A |
INTRINSIC |
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
low complexity region
|
190 |
197 |
N/A |
INTRINSIC |
low complexity region
|
204 |
213 |
N/A |
INTRINSIC |
Pfam:Tub
|
345 |
537 |
3.3e-11 |
PFAM |
low complexity region
|
603 |
639 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141059
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149756
AA Change: H502Y
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000123218 Gene: ENSMUSG00000034377 AA Change: H502Y
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 |
|
Meta Mutation Damage Score |
0.0779 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
C |
7: 45,766,812 (GRCm39) |
D989E |
probably benign |
Het |
Adad1 |
A |
G |
3: 37,119,315 (GRCm39) |
Y132C |
probably damaging |
Het |
Adam33 |
A |
T |
2: 130,895,483 (GRCm39) |
C579S |
probably damaging |
Het |
Adam6a |
A |
C |
12: 113,509,202 (GRCm39) |
Q525P |
probably damaging |
Het |
Alpk3 |
C |
T |
7: 80,743,042 (GRCm39) |
P953L |
probably damaging |
Het |
Arb2a |
G |
A |
13: 77,907,591 (GRCm39) |
E5K |
probably damaging |
Het |
Atat1 |
A |
G |
17: 36,220,331 (GRCm39) |
S54P |
probably damaging |
Het |
Bpgm |
A |
G |
6: 34,464,502 (GRCm39) |
E73G |
possibly damaging |
Het |
Cab39 |
T |
A |
1: 85,775,880 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
A |
G |
10: 41,554,809 (GRCm39) |
L285P |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,196,979 (GRCm39) |
E429G |
possibly damaging |
Het |
Cct3 |
C |
T |
3: 88,220,567 (GRCm39) |
R260W |
probably damaging |
Het |
Chd1 |
C |
A |
17: 15,927,199 (GRCm39) |
|
probably null |
Het |
Cxcr4 |
T |
G |
1: 128,517,527 (GRCm39) |
T45P |
probably damaging |
Het |
Disp2 |
G |
T |
2: 118,622,286 (GRCm39) |
R1006L |
probably damaging |
Het |
Dlec1 |
T |
G |
9: 118,953,606 (GRCm39) |
|
probably null |
Het |
Dram2 |
T |
G |
3: 106,480,294 (GRCm39) |
Y202* |
probably null |
Het |
Etl4 |
C |
A |
2: 20,802,799 (GRCm39) |
T1035K |
probably damaging |
Het |
F5 |
T |
C |
1: 164,012,522 (GRCm39) |
F479L |
probably benign |
Het |
Frrs1l |
C |
A |
4: 56,972,372 (GRCm39) |
G110W |
probably damaging |
Het |
Gpbp1l1 |
T |
A |
4: 116,445,807 (GRCm39) |
I303N |
probably damaging |
Het |
Grik5 |
A |
G |
7: 24,722,495 (GRCm39) |
F538S |
probably damaging |
Het |
Hgsnat |
C |
A |
8: 26,444,860 (GRCm39) |
|
probably null |
Het |
Hs2st1 |
T |
C |
3: 144,140,307 (GRCm39) |
D338G |
probably benign |
Het |
Impdh1 |
T |
C |
6: 29,206,062 (GRCm39) |
|
probably null |
Het |
Ipo9 |
T |
C |
1: 135,334,496 (GRCm39) |
|
probably benign |
Het |
Kdm4b |
T |
G |
17: 56,676,155 (GRCm39) |
L220R |
probably damaging |
Het |
Map1a |
T |
A |
2: 121,131,299 (GRCm39) |
F705Y |
probably damaging |
Het |
Med22 |
C |
T |
2: 26,798,223 (GRCm39) |
D99N |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,235,479 (GRCm39) |
Y519C |
probably damaging |
Het |
Myt1l |
A |
G |
12: 29,833,873 (GRCm39) |
I25M |
probably damaging |
Het |
Ncam1 |
T |
A |
9: 49,421,123 (GRCm39) |
I731F |
probably benign |
Het |
Nlrp4f |
T |
A |
13: 65,342,715 (GRCm39) |
H310L |
probably benign |
Het |
Or2ag1b |
A |
T |
7: 106,288,731 (GRCm39) |
M69K |
possibly damaging |
Het |
Or2ag2b |
C |
A |
7: 106,417,386 (GRCm39) |
T32K |
possibly damaging |
Het |
Or4f14 |
T |
A |
2: 111,742,906 (GRCm39) |
Y123F |
probably damaging |
Het |
Or4k40 |
A |
T |
2: 111,251,261 (GRCm39) |
F12I |
probably damaging |
Het |
Prl8a6 |
T |
A |
13: 27,617,021 (GRCm39) |
Y223F |
probably benign |
Het |
Prss39 |
A |
G |
1: 34,541,228 (GRCm39) |
D244G |
probably damaging |
Het |
Ptx4 |
A |
T |
17: 25,342,077 (GRCm39) |
Q184L |
possibly damaging |
Het |
Slc26a1 |
A |
T |
5: 108,819,611 (GRCm39) |
D545E |
probably damaging |
Het |
Slc7a12 |
T |
C |
3: 14,570,441 (GRCm39) |
S398P |
probably damaging |
Het |
Slc9a4 |
T |
C |
1: 40,639,931 (GRCm39) |
V241A |
probably damaging |
Het |
Snw1 |
T |
C |
12: 87,511,324 (GRCm39) |
D109G |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,980,674 (GRCm39) |
I1477K |
probably benign |
Het |
Timd4 |
A |
T |
11: 46,701,691 (GRCm39) |
Y18F |
probably benign |
Het |
Tmprss2 |
A |
G |
16: 97,379,797 (GRCm39) |
Y168H |
probably benign |
Het |
Ttn |
A |
T |
2: 76,569,044 (GRCm39) |
I27283K |
probably damaging |
Het |
Vasn |
C |
T |
16: 4,467,486 (GRCm39) |
R478C |
probably benign |
Het |
Zfp58 |
A |
T |
13: 67,640,082 (GRCm39) |
C136* |
probably null |
Het |
|
Other mutations in Tulp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00428:Tulp4
|
APN |
17 |
6,189,351 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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 |
|
|
Predicted Primers |
|
Posted On |
2019-06-26 |