Incidental Mutation 'R4081:Tulp4'
| ID |
368252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp4
|
| Ensembl Gene |
ENSMUSG00000034377 |
| Gene Name |
tubby like protein 4 |
| Synonyms |
2210038L17Rik, 1110057P05Rik |
| MMRRC Submission |
040977-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.677)
|
| Stock # |
R4081 (G1)
|
| Quality Score |
52 |
|
Status
|
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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
| Adad1 |
A |
G |
3: 37,118,512 (GRCm39) |
|
probably null |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
| Ccnf |
T |
C |
17: 24,442,872 (GRCm39) |
*778W |
probably null |
Het |
| Cd53 |
T |
C |
3: 106,669,461 (GRCm39) |
H179R |
probably benign |
Het |
| Cit |
G |
T |
5: 116,086,109 (GRCm39) |
R891L |
probably damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,046,733 (GRCm39) |
|
probably null |
Het |
| Cntrl |
C |
A |
2: 35,051,938 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,065,137 (GRCm39) |
D2148G |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,631,228 (GRCm39) |
S381P |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,851,035 (GRCm39) |
V1612D |
probably damaging |
Het |
| Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,002 (GRCm39) |
I193N |
possibly damaging |
Het |
| Gdi2 |
T |
A |
13: 3,598,866 (GRCm39) |
C17S |
probably benign |
Het |
| Gm5436 |
T |
A |
12: 84,305,489 (GRCm39) |
|
noncoding transcript |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,040 (GRCm39) |
Y139C |
possibly damaging |
Het |
| Insr |
A |
T |
8: 3,261,391 (GRCm39) |
M321K |
probably benign |
Het |
| Ippk |
T |
A |
13: 49,599,852 (GRCm39) |
L237Q |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,368,796 (GRCm39) |
I149N |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
| Myd88 |
G |
T |
9: 119,169,053 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,081,256 (GRCm39) |
S1291P |
probably benign |
Het |
| Mylk3 |
G |
A |
8: 86,055,311 (GRCm39) |
L549F |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,937,723 (GRCm39) |
S1811P |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,838,970 (GRCm39) |
|
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,583,987 (GRCm39) |
T202S |
probably damaging |
Het |
| Ptprr |
A |
T |
10: 116,072,615 (GRCm39) |
K329N |
probably benign |
Het |
| Rgl3 |
T |
A |
9: 21,898,971 (GRCm39) |
H156L |
possibly damaging |
Het |
| Sema6b |
A |
G |
17: 56,435,307 (GRCm39) |
V312A |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,609,032 (GRCm39) |
I606V |
probably benign |
Het |
| Slco1a1 |
T |
C |
6: 141,881,688 (GRCm39) |
E148G |
probably damaging |
Het |
| Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
| Sohlh1 |
A |
G |
2: 25,735,734 (GRCm39) |
V135A |
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,757,277 (GRCm39) |
E154G |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
G |
4: 118,230,764 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,795,595 (GRCm39) |
P296S |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,220,370 (GRCm39) |
D48G |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,873 (GRCm39) |
S101G |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,008,733 (GRCm39) |
I100T |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,487,818 (GRCm39) |
Y860* |
probably null |
Het |
| Vwa3b |
C |
T |
1: 37,074,905 (GRCm39) |
T24I |
probably damaging |
Het |
| Zfp541 |
G |
A |
7: 15,806,060 (GRCm39) |
S65N |
probably benign |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably 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 |
|
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'- GTCCCTGCTGACCAATCAAAATG -3'
(R):5'- CAGGATTGGAGTACCGACTG -3'
Sequencing Primer
(F):5'- CTGACCAATCAAAATGTGCAGTTGG -3'
(R):5'- TACCGACTGGAGACTGGGTACTG -3'
|
| Posted On |
2016-01-11 |
Incidental Mutation