Incidental Mutation 'R6275:Tulp4'
ID |
507605 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tulp4
|
Ensembl Gene |
ENSMUSG00000034377 |
Gene Name |
tubby like protein 4 |
Synonyms |
2210038L17Rik, 1110057P05Rik |
MMRRC Submission |
044445-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.677)
|
Stock # |
R6275 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
6156528-6290912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6249011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 203
(H203R)
|
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: H203R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049248 Gene: ENSMUSG00000034377 AA Change: H203R
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 damaging
Transcript: ENSMUST00000142030
AA Change: H10R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000120358 Gene: ENSMUSG00000034377 AA Change: H10R
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149756
AA Change: H10R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123218 Gene: ENSMUSG00000034377 AA Change: H10R
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 |
0.2001 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (56/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,833,625 (GRCm39) |
L30H |
probably damaging |
Het |
Abcb6 |
T |
C |
1: 75,149,195 (GRCm39) |
|
probably null |
Het |
Acsbg1 |
T |
A |
9: 54,517,056 (GRCm39) |
M586L |
probably benign |
Het |
Ano6 |
A |
T |
15: 95,811,314 (GRCm39) |
Y159F |
probably damaging |
Het |
C1ql1 |
A |
G |
11: 102,830,575 (GRCm39) |
I254T |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,531,519 (GRCm39) |
D318G |
possibly damaging |
Het |
Ccr7 |
C |
T |
11: 99,036,489 (GRCm39) |
M144I |
probably damaging |
Het |
Cdca3 |
C |
T |
6: 124,809,627 (GRCm39) |
|
probably null |
Het |
Ces1h |
A |
T |
8: 94,099,274 (GRCm39) |
L93I |
probably benign |
Het |
Cntfr |
T |
C |
4: 41,663,216 (GRCm39) |
D197G |
possibly damaging |
Het |
Cyp2d12 |
C |
A |
15: 82,440,859 (GRCm39) |
P126T |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,862,248 (GRCm39) |
T2225A |
probably damaging |
Het |
Edrf1 |
A |
T |
7: 133,269,311 (GRCm39) |
N1147Y |
possibly damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,287,995 (GRCm39) |
D86G |
possibly damaging |
Het |
Eif1ad16 |
T |
C |
12: 87,985,255 (GRCm39) |
N96S |
probably benign |
Het |
Ermap |
C |
T |
4: 119,035,747 (GRCm39) |
V414M |
probably damaging |
Het |
Fam13a |
A |
G |
6: 58,931,242 (GRCm39) |
I446T |
probably damaging |
Het |
Fgfbp3 |
T |
C |
19: 36,896,153 (GRCm39) |
H155R |
possibly damaging |
Het |
Folr1 |
T |
A |
7: 101,508,742 (GRCm39) |
N61I |
probably damaging |
Het |
Fsip1 |
T |
C |
2: 118,035,583 (GRCm39) |
I431V |
probably benign |
Het |
Gm5493 |
A |
T |
17: 22,969,043 (GRCm39) |
E74D |
probably benign |
Het |
H2-Oa |
A |
G |
17: 34,313,540 (GRCm39) |
D197G |
probably benign |
Het |
Hps1 |
T |
C |
19: 42,758,046 (GRCm39) |
E169G |
probably null |
Het |
Il17rc |
A |
T |
6: 113,457,308 (GRCm39) |
M372L |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,565,501 (GRCm39) |
S1042G |
probably benign |
Het |
Jchain |
A |
T |
5: 88,669,212 (GRCm39) |
V147E |
probably damaging |
Het |
Laptm4b |
A |
G |
15: 34,283,473 (GRCm39) |
T211A |
probably benign |
Het |
Mal2 |
T |
C |
15: 54,435,035 (GRCm39) |
|
probably null |
Het |
Mov10l1 |
T |
A |
15: 88,910,823 (GRCm39) |
I1071N |
probably damaging |
Het |
Mpp2 |
T |
A |
11: 101,951,795 (GRCm39) |
Y401F |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,965,610 (GRCm39) |
T1172A |
probably benign |
Het |
Or51q1 |
T |
A |
7: 103,629,181 (GRCm39) |
S261T |
probably damaging |
Het |
Pcnx1 |
G |
T |
12: 81,965,381 (GRCm39) |
S516I |
probably benign |
Het |
Pidd1 |
C |
T |
7: 141,019,708 (GRCm39) |
A685T |
probably damaging |
Het |
Psg28 |
A |
C |
7: 18,164,365 (GRCm39) |
Y116D |
probably damaging |
Het |
Psmd11 |
T |
C |
11: 80,329,458 (GRCm39) |
|
probably benign |
Het |
Rapgefl1 |
T |
A |
11: 98,741,946 (GRCm39) |
Y637N |
probably damaging |
Het |
Rbm25 |
T |
A |
12: 83,691,206 (GRCm39) |
M66K |
probably damaging |
Het |
Rnf38 |
T |
A |
4: 44,152,408 (GRCm39) |
H52L |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Sec62 |
A |
G |
3: 30,863,985 (GRCm39) |
Q89R |
probably damaging |
Het |
Serpina6 |
T |
A |
12: 103,614,979 (GRCm39) |
Q289L |
probably benign |
Het |
Sf3b2 |
A |
C |
19: 5,333,678 (GRCm39) |
I640S |
probably damaging |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc26a11 |
T |
C |
11: 119,250,125 (GRCm39) |
F127L |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,121,202 (GRCm39) |
D3936G |
probably damaging |
Het |
Stac3 |
T |
A |
10: 127,343,615 (GRCm39) |
Y252* |
probably null |
Het |
Stoml3 |
G |
A |
3: 53,414,927 (GRCm39) |
A240T |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,673,854 (GRCm39) |
H1653L |
probably benign |
Het |
Tll1 |
A |
T |
8: 64,504,401 (GRCm39) |
L665* |
probably null |
Het |
Tnr |
A |
C |
1: 159,688,840 (GRCm39) |
Q434P |
probably damaging |
Het |
Tpgs1 |
C |
A |
10: 79,511,354 (GRCm39) |
D165E |
probably benign |
Het |
Tsc2 |
A |
G |
17: 24,819,394 (GRCm39) |
V1185A |
probably benign |
Het |
Txnl4a |
T |
A |
18: 80,261,980 (GRCm39) |
M72K |
possibly damaging |
Het |
Usp42 |
G |
A |
5: 143,700,727 (GRCm39) |
R1099W |
probably damaging |
Het |
Zfp292 |
G |
A |
4: 34,808,883 (GRCm39) |
A1387V |
possibly damaging |
Het |
Zfp994 |
A |
T |
17: 22,418,972 (GRCm39) |
L659* |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGCTGGTCACGTTTCAG -3'
(R):5'- ACCTTCTCTGAGTGATGTCAC -3'
Sequencing Primer
(F):5'- CATTATAGGGACTGTCTCCTGGAAC -3'
(R):5'- GTGATGTCACTCTCTTTCCCAATG -3'
|
Posted On |
2018-03-15 |