Incidental Mutation 'R7109:Tulp4'
| ID |
551419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp4
|
| Ensembl Gene |
ENSMUSG00000034377 |
| Gene Name |
tubby like protein 4 |
| Synonyms |
2210038L17Rik, 1110057P05Rik |
| MMRRC Submission |
045201-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.677)
|
| Stock # |
R7109 (G1)
|
| Quality Score |
123.008 |
|
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
G |
2: 151,315,673 (GRCm39) |
K2Q |
probably damaging |
Het |
| Abtb2 |
T |
C |
2: 103,545,860 (GRCm39) |
Y903H |
probably benign |
Het |
| Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
| Alcam |
T |
A |
16: 52,097,192 (GRCm39) |
T355S |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,516,522 (GRCm39) |
V404A |
probably benign |
Het |
| Bst2 |
A |
G |
8: 71,989,926 (GRCm39) |
F49S |
possibly damaging |
Het |
| C1qtnf9 |
G |
C |
14: 61,017,019 (GRCm39) |
W183S |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,648,087 (GRCm39) |
I132V |
possibly damaging |
Het |
| Cchcr1 |
T |
A |
17: 35,828,838 (GRCm39) |
|
probably null |
Het |
| Cenpk |
A |
G |
13: 104,367,256 (GRCm39) |
K31E |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,853,301 (GRCm39) |
K798E |
possibly damaging |
Het |
| Copb2 |
T |
A |
9: 98,463,333 (GRCm39) |
|
probably null |
Het |
| Dennd1a |
T |
A |
2: 37,938,804 (GRCm39) |
Y102F |
probably damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,235,532 (GRCm39) |
P88S |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 59,503,031 (GRCm39) |
V959F |
probably damaging |
Het |
| Fam193a |
C |
A |
5: 34,623,165 (GRCm39) |
T1251K |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,389,171 (GRCm39) |
Q3896L |
probably benign |
Het |
| Ikbip |
C |
A |
10: 90,919,090 (GRCm39) |
D34E |
probably benign |
Het |
| Insr |
A |
G |
8: 3,308,481 (GRCm39) |
V185A |
probably benign |
Het |
| Jakmip1 |
C |
T |
5: 37,332,109 (GRCm39) |
Q930* |
probably null |
Het |
| Klc1 |
A |
G |
12: 111,743,299 (GRCm39) |
I209V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,648,985 (GRCm39) |
L1660M |
probably damaging |
Het |
| Mbd3l1 |
G |
T |
9: 18,396,210 (GRCm39) |
D112Y |
possibly damaging |
Het |
| Mrps2 |
T |
A |
2: 28,358,258 (GRCm39) |
V16E |
probably benign |
Het |
| Ncoa1 |
G |
A |
12: 4,372,978 (GRCm39) |
T141I |
possibly damaging |
Het |
| Ndst2 |
G |
T |
14: 20,779,911 (GRCm39) |
R110S |
probably damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,331,616 (GRCm39) |
V260A |
probably damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,576 (GRCm39) |
I140T |
probably benign |
Het |
| Or51a6 |
A |
T |
7: 102,604,460 (GRCm39) |
V116E |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,959 (GRCm39) |
N286S |
probably damaging |
Het |
| Or7g16 |
A |
T |
9: 18,726,904 (GRCm39) |
S229T |
probably benign |
Het |
| Pah |
T |
C |
10: 87,406,148 (GRCm39) |
V262A |
probably damaging |
Het |
| Pcnt |
T |
G |
10: 76,205,738 (GRCm39) |
E2538A |
probably damaging |
Het |
| Pdxk |
T |
A |
10: 78,282,810 (GRCm39) |
I162F |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,455,650 (GRCm39) |
F110L |
probably damaging |
Het |
| Pm20d2 |
A |
T |
4: 33,187,186 (GRCm39) |
L154Q |
probably damaging |
Het |
| Podxl2 |
C |
T |
6: 88,820,566 (GRCm39) |
V445I |
possibly damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,235 (GRCm39) |
W560R |
probably benign |
Het |
| Rasal3 |
A |
G |
17: 32,611,683 (GRCm39) |
S815P |
probably damaging |
Het |
| Rdm1 |
A |
G |
11: 101,524,654 (GRCm39) |
K196E |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,181,286 (GRCm39) |
D79G |
possibly damaging |
Het |
| Slc22a21 |
A |
G |
11: 53,870,329 (GRCm39) |
Y119H |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Synrg |
C |
A |
11: 83,930,498 (GRCm39) |
A1280E |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,232,676 (GRCm39) |
C2396R |
unknown |
Het |
| Trappc3 |
A |
G |
4: 126,167,726 (GRCm39) |
N95S |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,113,681 (GRCm39) |
D633E |
probably benign |
Het |
| Wasl |
G |
A |
6: 24,633,186 (GRCm39) |
P151S |
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,209,988 (GRCm39) |
N122S |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,831 (GRCm39) |
R149G |
possibly damaging |
Het |
| Zfp764 |
A |
G |
7: 127,003,887 (GRCm39) |
S415P |
possibly damaging |
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2019-05-15 |
Incidental Mutation