Incidental Mutation 'R1736:Tulp4'
| ID |
199747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp4
|
| Ensembl Gene |
ENSMUSG00000034377 |
| Gene Name |
tubby like protein 4 |
| Synonyms |
2210038L17Rik, 1110057P05Rik |
| MMRRC Submission |
039768-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.693)
|
| Stock # |
R1736 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
6156528-6290912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 6283490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 1173
(V1173G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039655]
[ENSMUST00000149756]
|
| AlphaFold |
Q9JIL5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039655
AA Change: V1173G
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: V1173G
| 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 |
unknown
Transcript: ENSMUST00000137063
AA Change: V188G
|
| SMART Domains |
Protein: ENSMUSP00000123119
Gene: ENSMUSG00000034377
AA Change: V188G
| 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 |
probably benign
Transcript: ENSMUST00000149756
AA Change: V980G
PolyPhen 2
Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377
AA Change: V980G
| 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 |
|
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,250,998 (GRCm39) |
N586D |
possibly damaging |
Het |
| Ak6 |
T |
A |
13: 100,791,689 (GRCm39) |
|
probably null |
Het |
| Ankrd66 |
T |
C |
17: 43,854,409 (GRCm39) |
D41G |
probably benign |
Het |
| Atp8b2 |
G |
A |
3: 89,860,001 (GRCm39) |
P339S |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,811,820 (GRCm39) |
V1297I |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,064,192 (GRCm39) |
D781E |
possibly damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Clint1 |
A |
G |
11: 45,797,004 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,706,781 (GRCm39) |
Y2111H |
unknown |
Het |
| Csnk1g1 |
A |
G |
9: 65,927,197 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,029,145 (GRCm39) |
N648K |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,376,966 (GRCm39) |
K1584E |
probably benign |
Het |
| Ezh2 |
A |
T |
6: 47,553,594 (GRCm39) |
M41K |
probably damaging |
Het |
| Fscn2 |
G |
A |
11: 120,258,852 (GRCm39) |
G466S |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,761,153 (GRCm39) |
S520P |
probably damaging |
Het |
| Gm15217 |
A |
G |
14: 46,620,663 (GRCm39) |
|
probably benign |
Het |
| Gm9696 |
T |
C |
3: 59,879,696 (GRCm39) |
|
noncoding transcript |
Het |
| Gosr2 |
G |
A |
11: 103,570,076 (GRCm39) |
Q162* |
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,487,593 (GRCm39) |
H3529Q |
possibly damaging |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,495,525 (GRCm39) |
I4074K |
probably damaging |
Het |
| Ly6g2 |
G |
A |
15: 75,089,569 (GRCm39) |
G26R |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,747,429 (GRCm39) |
D555G |
probably benign |
Het |
| Mindy2 |
A |
G |
9: 70,538,312 (GRCm39) |
I341T |
probably damaging |
Het |
| Mrnip |
G |
A |
11: 50,067,718 (GRCm39) |
|
probably null |
Het |
| Muc5b |
G |
A |
7: 141,412,844 (GRCm39) |
C1930Y |
unknown |
Het |
| Nfatc3 |
T |
G |
8: 106,805,482 (GRCm39) |
I109S |
probably damaging |
Het |
| Npas1 |
G |
T |
7: 16,208,541 (GRCm39) |
A112D |
probably benign |
Het |
| Npffr2 |
T |
A |
5: 89,715,925 (GRCm39) |
I84N |
probably damaging |
Het |
| Nxph4 |
T |
A |
10: 127,362,465 (GRCm39) |
H142L |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,378,294 (GRCm39) |
|
probably benign |
Het |
| Per3 |
A |
G |
4: 151,093,705 (GRCm39) |
|
probably null |
Het |
| Pigr |
G |
A |
1: 130,769,540 (GRCm39) |
R117Q |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,160,108 (GRCm39) |
|
probably benign |
Het |
| Sall4 |
G |
A |
2: 168,594,555 (GRCm39) |
P420L |
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,855,046 (GRCm39) |
K252R |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,703,914 (GRCm39) |
Y692* |
probably null |
Het |
| Sema3e |
C |
T |
5: 14,260,390 (GRCm39) |
T181M |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,540,464 (GRCm39) |
I986V |
probably benign |
Het |
| Shisa4 |
A |
T |
1: 135,299,700 (GRCm39) |
Y194* |
probably null |
Het |
| Slc17a6 |
G |
A |
7: 51,311,333 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
G |
7: 117,765,190 (GRCm39) |
|
probably null |
Het |
| Smim7 |
C |
T |
8: 73,324,849 (GRCm39) |
G9R |
probably damaging |
Het |
| Spata31d1d |
C |
T |
13: 59,874,311 (GRCm39) |
G1075R |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,302,771 (GRCm39) |
|
probably benign |
Het |
| Tbce |
A |
G |
13: 14,184,227 (GRCm39) |
I217T |
possibly damaging |
Het |
| Tpk1 |
G |
A |
6: 43,588,284 (GRCm39) |
P27S |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,797 (GRCm39) |
I2V |
probably benign |
Het |
| Uchl1 |
T |
C |
5: 66,834,417 (GRCm39) |
|
probably null |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,492 (GRCm39) |
Q180L |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCCGTGATCGTACTGACTATG -3'
(R):5'- TGGCTGAAGTACCACAGCAGACTC -3'
Sequencing Primer
(F):5'- CGTGATCGTACTGACTATGTCAAC -3'
(R):5'- AGCAGACTCCTGTTGTGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation