Incidental Mutation 'R0321:Pik3r4'
| ID |
35868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3r4
|
| Ensembl Gene |
ENSMUSG00000032571 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
| Synonyms |
p150, Vps15 |
| MMRRC Submission |
038531-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105525906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 259
(F259I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000188784]
[ENSMUST00000190358]
[ENSMUST00000191268]
|
| AlphaFold |
Q8VD65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065778
AA Change: F259I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: F259I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
26 |
310 |
1.7e-5 |
PFAM |
|
Pfam:Pkinase
|
26 |
312 |
1.2e-18 |
PFAM |
|
coiled coil region
|
941 |
963 |
N/A |
INTRINSIC |
|
WD40
|
982 |
1021 |
3.99e-8 |
SMART |
|
WD40
|
1031 |
1070 |
6.16e0 |
SMART |
|
WD40
|
1132 |
1169 |
4.58e1 |
SMART |
|
WD40
|
1171 |
1214 |
1.64e2 |
SMART |
|
WD40
|
1228 |
1269 |
2.76e-2 |
SMART |
|
WD40
|
1317 |
1358 |
2.96e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187573
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188784
AA Change: F259I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140988
Gene: ENSMUSG00000032571
AA Change: F259I
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
301 |
2.8e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190358
|
| SMART Domains |
Protein: ENSMUSP00000139643
Gene: ENSMUSG00000032571
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
26 |
174 |
2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191117
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191268
AA Change: F259I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: F259I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
26 |
310 |
8.9e-7 |
PFAM |
|
Pfam:Pkinase
|
26 |
312 |
3.7e-23 |
PFAM |
|
coiled coil region
|
941 |
963 |
N/A |
INTRINSIC |
|
WD40
|
982 |
1021 |
3.99e-8 |
SMART |
|
WD40
|
1031 |
1070 |
6.16e0 |
SMART |
|
WD40
|
1132 |
1169 |
4.58e1 |
SMART |
|
WD40
|
1171 |
1214 |
1.64e2 |
SMART |
|
WD40
|
1228 |
1269 |
2.76e-2 |
SMART |
|
WD40
|
1317 |
1358 |
2.96e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.6811 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
100% (79/79) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit earl embryonic lethality before E7.5. Mice homozygous for a conditional allele activated in muscles exhibit symptoms of autophagic vacuolar myopathies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,620 (GRCm39) |
T353A |
probably benign |
Het |
| 4933402N03Rik |
T |
A |
7: 130,747,956 (GRCm39) |
Y12F |
probably benign |
Het |
| Acbd3 |
T |
G |
1: 180,579,870 (GRCm39) |
F505V |
probably damaging |
Het |
| Acod1 |
T |
C |
14: 103,292,565 (GRCm39) |
V363A |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,855,200 (GRCm39) |
Q647R |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,185,243 (GRCm39) |
L296F |
probably damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,982,464 (GRCm39) |
A588T |
probably benign |
Het |
| Armc8 |
A |
T |
9: 99,415,230 (GRCm39) |
I150K |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,164,251 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 36,960,937 (GRCm39) |
|
probably null |
Het |
| Carmil3 |
C |
A |
14: 55,739,698 (GRCm39) |
D928E |
possibly damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,885,279 (GRCm39) |
N73S |
probably damaging |
Het |
| Cdk9 |
C |
A |
2: 32,602,698 (GRCm39) |
|
probably benign |
Het |
| Cel |
G |
T |
2: 28,451,160 (GRCm39) |
Q66K |
probably benign |
Het |
| D930028M14Rik |
T |
A |
7: 24,854,991 (GRCm39) |
|
noncoding transcript |
Het |
| Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
T |
C |
16: 31,676,854 (GRCm39) |
V801A |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,900,416 (GRCm39) |
D3834G |
probably benign |
Het |
| Dnajc15 |
C |
T |
14: 78,112,273 (GRCm39) |
A23T |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,910,007 (GRCm39) |
L119Q |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
| F10 |
T |
C |
8: 13,103,413 (GRCm39) |
F266L |
possibly damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,587 (GRCm39) |
N61S |
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,671,620 (GRCm39) |
S605N |
probably benign |
Het |
| Fbxw15 |
C |
T |
9: 109,394,453 (GRCm39) |
V121I |
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
A |
G |
2: 28,503,897 (GRCm39) |
F101S |
probably damaging |
Het |
| Gimap5 |
C |
G |
6: 48,727,449 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
C |
14: 118,385,699 (GRCm39) |
|
probably null |
Het |
| Gsn |
T |
C |
2: 35,180,408 (GRCm39) |
F188L |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,952,788 (GRCm39) |
I368N |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,634,063 (GRCm39) |
I153F |
probably damaging |
Het |
| Kdm8 |
A |
T |
7: 125,060,178 (GRCm39) |
Q360L |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,335,697 (GRCm39) |
K1140E |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,286 (GRCm39) |
Y71C |
probably damaging |
Het |
| Mroh5 |
C |
T |
15: 73,661,892 (GRCm39) |
G433E |
probably damaging |
Het |
| Mrpl45 |
T |
A |
11: 97,217,764 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,686,426 (GRCm39) |
T827S |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,415,972 (GRCm39) |
S2973P |
probably benign |
Het |
| Mynn |
T |
C |
3: 30,661,706 (GRCm39) |
S263P |
probably benign |
Het |
| Myo1f |
A |
C |
17: 33,811,986 (GRCm39) |
D595A |
probably benign |
Het |
| Necab1 |
A |
T |
4: 14,960,083 (GRCm39) |
I288N |
probably damaging |
Het |
| Nutm2 |
T |
G |
13: 50,626,991 (GRCm39) |
M382R |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,183 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,301,891 (GRCm39) |
S619P |
probably benign |
Het |
| Phkg1 |
A |
T |
5: 129,898,365 (GRCm39) |
M1K |
probably null |
Het |
| Pigc |
C |
T |
1: 161,798,668 (GRCm39) |
Q217* |
probably null |
Het |
| Pkdcc |
A |
T |
17: 83,529,541 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,755,307 (GRCm39) |
I259F |
possibly damaging |
Het |
| Prune2 |
T |
G |
19: 17,098,291 (GRCm39) |
L1265R |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,099,818 (GRCm39) |
A1774V |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,738,139 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,328,931 (GRCm39) |
Q2067* |
probably null |
Het |
| Sec14l1 |
T |
A |
11: 117,041,568 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
C |
T |
1: 106,975,212 (GRCm39) |
W198* |
probably null |
Het |
| Smpdl3b |
A |
T |
4: 132,468,755 (GRCm39) |
V154E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,008,719 (GRCm39) |
S1950P |
probably damaging |
Het |
| Sprr1a |
T |
C |
3: 92,391,609 (GRCm39) |
T131A |
probably benign |
Het |
| Tatdn2 |
T |
G |
6: 113,686,462 (GRCm39) |
L690W |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,496,937 (GRCm39) |
F864L |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,674,444 (GRCm39) |
R243S |
probably damaging |
Het |
| Tnfrsf11a |
T |
A |
1: 105,772,583 (GRCm39) |
C623* |
probably null |
Het |
| Tprg1l |
T |
C |
4: 154,243,812 (GRCm39) |
N115D |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,895,538 (GRCm39) |
A4V |
possibly damaging |
Het |
| Vps41 |
G |
A |
13: 19,026,465 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,149,303 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
G |
A |
11: 35,732,637 (GRCm39) |
Q1024* |
probably null |
Het |
| Zfand5 |
T |
A |
19: 21,253,879 (GRCm39) |
N27K |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,608,873 (GRCm39) |
C1641S |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,629,042 (GRCm39) |
I1465T |
probably damaging |
Het |
| Zswim1 |
G |
A |
2: 164,667,947 (GRCm39) |
G400S |
probably benign |
Het |
| Zswim3 |
C |
T |
2: 164,662,279 (GRCm39) |
A253V |
possibly damaging |
Het |
|
| Other mutations in Pik3r4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01375:Pik3r4
|
APN |
9 |
105,521,803 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01617:Pik3r4
|
APN |
9 |
105,532,164 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01764:Pik3r4
|
APN |
9 |
105,562,321 (GRCm39) |
splice site |
probably benign |
|
|
IGL01817:Pik3r4
|
APN |
9 |
105,528,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01830:Pik3r4
|
APN |
9 |
105,522,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01905:Pik3r4
|
APN |
9 |
105,522,077 (GRCm39) |
nonsense |
probably null |
|
|
IGL01947:Pik3r4
|
APN |
9 |
105,563,349 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01985:Pik3r4
|
APN |
9 |
105,540,244 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02321:Pik3r4
|
APN |
9 |
105,521,677 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02389:Pik3r4
|
APN |
9 |
105,527,530 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02898:Pik3r4
|
APN |
9 |
105,527,605 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03037:Pik3r4
|
APN |
9 |
105,528,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
boteh
|
UTSW |
9 |
105,545,137 (GRCm39) |
splice site |
probably null |
|
|
truth
|
UTSW |
9 |
105,527,805 (GRCm39) |
missense |
probably damaging |
0.98 |
|
verisimilitude
|
UTSW |
9 |
105,555,352 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02835:Pik3r4
|
UTSW |
9 |
105,549,905 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0011:Pik3r4
|
UTSW |
9 |
105,521,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0312:Pik3r4
|
UTSW |
9 |
105,563,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Pik3r4
|
UTSW |
9 |
105,546,244 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0645:Pik3r4
|
UTSW |
9 |
105,546,386 (GRCm39) |
splice site |
probably benign |
|
|
R0690:Pik3r4
|
UTSW |
9 |
105,531,175 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0789:Pik3r4
|
UTSW |
9 |
105,562,366 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0894:Pik3r4
|
UTSW |
9 |
105,544,970 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0988:Pik3r4
|
UTSW |
9 |
105,564,404 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1123:Pik3r4
|
UTSW |
9 |
105,540,328 (GRCm39) |
missense |
probably benign |
|
|
R1172:Pik3r4
|
UTSW |
9 |
105,540,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Pik3r4
|
UTSW |
9 |
105,540,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1342:Pik3r4
|
UTSW |
9 |
105,528,100 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1387:Pik3r4
|
UTSW |
9 |
105,521,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Pik3r4
|
UTSW |
9 |
105,564,443 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1638:Pik3r4
|
UTSW |
9 |
105,564,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Pik3r4
|
UTSW |
9 |
105,564,351 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1995:Pik3r4
|
UTSW |
9 |
105,546,364 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2037:Pik3r4
|
UTSW |
9 |
105,527,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2165:Pik3r4
|
UTSW |
9 |
105,549,984 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4210:Pik3r4
|
UTSW |
9 |
105,527,957 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4515:Pik3r4
|
UTSW |
9 |
105,549,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Pik3r4
|
UTSW |
9 |
105,549,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Pik3r4
|
UTSW |
9 |
105,532,098 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4632:Pik3r4
|
UTSW |
9 |
105,532,098 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4732:Pik3r4
|
UTSW |
9 |
105,555,375 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4733:Pik3r4
|
UTSW |
9 |
105,555,375 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4940:Pik3r4
|
UTSW |
9 |
105,546,193 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5120:Pik3r4
|
UTSW |
9 |
105,546,208 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5169:Pik3r4
|
UTSW |
9 |
105,555,360 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5183:Pik3r4
|
UTSW |
9 |
105,559,507 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5353:Pik3r4
|
UTSW |
9 |
105,545,137 (GRCm39) |
splice site |
probably null |
|
|
R5463:Pik3r4
|
UTSW |
9 |
105,525,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Pik3r4
|
UTSW |
9 |
105,545,024 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5763:Pik3r4
|
UTSW |
9 |
105,546,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5830:Pik3r4
|
UTSW |
9 |
105,522,023 (GRCm39) |
nonsense |
probably null |
|
|
R6251:Pik3r4
|
UTSW |
9 |
105,531,247 (GRCm39) |
missense |
probably benign |
|
|
R6468:Pik3r4
|
UTSW |
9 |
105,562,389 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6611:Pik3r4
|
UTSW |
9 |
105,521,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6642:Pik3r4
|
UTSW |
9 |
105,521,845 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6821:Pik3r4
|
UTSW |
9 |
105,527,805 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7039:Pik3r4
|
UTSW |
9 |
105,554,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7144:Pik3r4
|
UTSW |
9 |
105,527,783 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7410:Pik3r4
|
UTSW |
9 |
105,527,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7559:Pik3r4
|
UTSW |
9 |
105,555,352 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7561:Pik3r4
|
UTSW |
9 |
105,564,446 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7658:Pik3r4
|
UTSW |
9 |
105,521,710 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7727:Pik3r4
|
UTSW |
9 |
105,547,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7871:Pik3r4
|
UTSW |
9 |
105,540,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7957:Pik3r4
|
UTSW |
9 |
105,564,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8138:Pik3r4
|
UTSW |
9 |
105,546,234 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8686:Pik3r4
|
UTSW |
9 |
105,535,728 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8719:Pik3r4
|
UTSW |
9 |
105,559,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9091:Pik3r4
|
UTSW |
9 |
105,547,108 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9189:Pik3r4
|
UTSW |
9 |
105,547,038 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9270:Pik3r4
|
UTSW |
9 |
105,547,108 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9439:Pik3r4
|
UTSW |
9 |
105,528,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACCAAGCCCTTAGACCTAC -3'
(R):5'- CCGTTACTGTGCTCTGCTAAATGCC -3'
Sequencing Primer
(F):5'- AGCCCTTAGACCTACATTGC -3'
(R):5'- atgtcttgcctgtcatccc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation