Incidental Mutation 'R9091:Pik3r4'
ID |
691003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3r4
|
Ensembl Gene |
ENSMUSG00000032571 |
Gene Name |
phosphoinositide-3-kinase regulatory subunit 4 |
Synonyms |
p150, Vps15 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9091 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
105520177-105564856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105547108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 962
(K962R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065778]
[ENSMUST00000186943]
[ENSMUST00000191268]
|
AlphaFold |
Q8VD65 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065778
AA Change: K962R
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000067400 Gene: ENSMUSG00000032571 AA Change: K962R
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 |
probably benign
Transcript: ENSMUST00000186943
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191268
AA Change: K962R
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139427 Gene: ENSMUSG00000032571 AA Change: K962R
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 |
0.1031 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt3 |
T |
A |
3: 30,652,781 (GRCm39) |
E104D |
probably damaging |
Het |
Arih2 |
A |
T |
9: 108,493,890 (GRCm39) |
D174E |
probably damaging |
Het |
Asprv1 |
T |
C |
6: 86,606,077 (GRCm39) |
F308L |
probably damaging |
Het |
Baiap2l2 |
A |
G |
15: 79,168,205 (GRCm39) |
|
probably null |
Het |
Btla |
T |
C |
16: 45,064,656 (GRCm39) |
F203L |
possibly damaging |
Het |
C1rb |
A |
T |
6: 124,551,947 (GRCm39) |
D283V |
probably damaging |
Het |
C87436 |
C |
G |
6: 86,442,813 (GRCm39) |
Q462E |
probably benign |
Het |
Ccdc149 |
T |
C |
5: 52,563,352 (GRCm39) |
D147G |
possibly damaging |
Het |
Chd6 |
A |
T |
2: 160,871,793 (GRCm39) |
L214* |
probably null |
Het |
Chrna4 |
C |
A |
2: 180,670,643 (GRCm39) |
R371L |
possibly damaging |
Het |
Cit |
C |
A |
5: 115,984,161 (GRCm39) |
|
probably benign |
Het |
Cpne5 |
A |
G |
17: 29,444,163 (GRCm39) |
|
probably null |
Het |
Cr1l |
T |
C |
1: 194,789,204 (GRCm39) |
E400G |
possibly damaging |
Het |
Creb3l2 |
T |
C |
6: 37,332,583 (GRCm39) |
N304D |
probably damaging |
Het |
Cyp17a1 |
T |
C |
19: 46,656,030 (GRCm39) |
T420A |
probably benign |
Het |
Cyp24a1 |
A |
G |
2: 170,327,853 (GRCm39) |
I463T |
probably damaging |
Het |
Cyp3a41b |
A |
T |
5: 145,514,973 (GRCm39) |
I84N |
probably damaging |
Het |
Dnajc6 |
G |
A |
4: 101,496,559 (GRCm39) |
V909M |
possibly damaging |
Het |
Dtl |
A |
G |
1: 191,288,923 (GRCm39) |
Y264H |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,077,216 (GRCm39) |
R660* |
probably null |
Het |
Egf |
A |
G |
3: 129,529,449 (GRCm39) |
|
probably null |
Het |
Eva1c |
T |
C |
16: 90,701,231 (GRCm39) |
S402P |
probably benign |
Het |
Fcho2 |
A |
T |
13: 98,925,869 (GRCm39) |
|
probably null |
Het |
Fhdc1 |
G |
A |
3: 84,352,290 (GRCm39) |
R197C |
unknown |
Het |
Foxa2 |
T |
A |
2: 147,886,426 (GRCm39) |
M136L |
probably benign |
Het |
Gm10226 |
T |
C |
17: 21,910,866 (GRCm39) |
C34R |
possibly damaging |
Het |
Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
Gm8947 |
T |
C |
1: 151,068,853 (GRCm39) |
S229P |
probably benign |
Het |
Ighv9-2 |
A |
T |
12: 114,072,896 (GRCm39) |
S26T |
probably damaging |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kat6a |
T |
G |
8: 23,420,190 (GRCm39) |
I745M |
probably damaging |
Het |
Klhdc1 |
T |
C |
12: 69,309,968 (GRCm39) |
L290P |
probably damaging |
Het |
Lcp2 |
C |
T |
11: 34,039,688 (GRCm39) |
T496I |
|
Het |
Map4k4 |
T |
C |
1: 40,042,923 (GRCm39) |
W593R |
probably benign |
Het |
Mefv |
T |
G |
16: 3,535,841 (GRCm39) |
Q29P |
probably damaging |
Het |
Mgat5b |
T |
C |
11: 116,859,269 (GRCm39) |
Y34H |
|
Het |
Mlip |
C |
T |
9: 77,137,080 (GRCm39) |
R609Q |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,290,816 (GRCm39) |
D34G |
|
Het |
Nbeal1 |
C |
T |
1: 60,307,548 (GRCm39) |
P1687S |
possibly damaging |
Het |
Notch1 |
T |
A |
2: 26,369,895 (GRCm39) |
I477L |
probably damaging |
Het |
Odad2 |
T |
A |
18: 7,217,846 (GRCm39) |
K623* |
probably null |
Het |
Or1l4b |
G |
A |
2: 37,037,047 (GRCm39) |
M274I |
probably benign |
Het |
Or1s2 |
T |
C |
19: 13,758,333 (GRCm39) |
V117A |
probably benign |
Het |
Or4a2 |
A |
T |
2: 89,248,712 (GRCm39) |
L15Q |
probably damaging |
Het |
Or51v8 |
T |
A |
7: 103,320,124 (GRCm39) |
N38I |
probably damaging |
Het |
Or6c214 |
A |
G |
10: 129,591,148 (GRCm39) |
M57T |
probably damaging |
Het |
Pak5 |
A |
T |
2: 135,958,688 (GRCm39) |
S133R |
probably damaging |
Het |
Pcyt1a |
C |
A |
16: 32,285,332 (GRCm39) |
D187E |
probably benign |
Het |
Pdlim7 |
G |
T |
13: 55,655,354 (GRCm39) |
T161K |
probably damaging |
Het |
Phf8-ps |
A |
C |
17: 33,286,701 (GRCm39) |
C34G |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,759,433 (GRCm39) |
K1516E |
probably damaging |
Het |
Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
Ptchd3 |
A |
T |
11: 121,733,180 (GRCm39) |
Y690F |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,649,735 (GRCm39) |
R379S |
possibly damaging |
Het |
Rbm27 |
C |
T |
18: 42,438,829 (GRCm39) |
A410V |
probably benign |
Het |
Rnase4 |
A |
G |
14: 51,342,662 (GRCm39) |
T129A |
probably benign |
Het |
Serpinb11 |
C |
T |
1: 107,304,533 (GRCm39) |
T166I |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,963,705 (GRCm39) |
T438A |
possibly damaging |
Het |
Slc13a2 |
T |
C |
11: 78,295,258 (GRCm39) |
N172D |
probably damaging |
Het |
Slc2a8 |
A |
G |
2: 32,864,864 (GRCm39) |
F428L |
probably damaging |
Het |
Slc38a6 |
T |
C |
12: 73,398,544 (GRCm39) |
M358T |
probably benign |
Het |
Snx29 |
A |
G |
16: 11,213,155 (GRCm39) |
H107R |
probably benign |
Het |
Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
Spint3 |
G |
A |
2: 164,415,154 (GRCm39) |
A21V |
probably benign |
Het |
Susd1 |
A |
T |
4: 59,412,226 (GRCm39) |
V162E |
probably benign |
Het |
Syne2 |
T |
G |
12: 75,977,834 (GRCm39) |
N1426K |
probably damaging |
Het |
Synj2 |
T |
C |
17: 6,067,875 (GRCm39) |
V638A |
possibly damaging |
Het |
Thada |
A |
T |
17: 84,538,589 (GRCm39) |
L1473Q |
probably damaging |
Het |
Trim36 |
G |
A |
18: 46,300,580 (GRCm39) |
S697L |
possibly damaging |
Het |
Ttbk1 |
A |
T |
17: 46,781,517 (GRCm39) |
I412N |
possibly damaging |
Het |
Tubb2a |
T |
C |
13: 34,258,578 (GRCm39) |
D404G |
probably damaging |
Het |
Tyk2 |
T |
A |
9: 21,035,841 (GRCm39) |
N114Y |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,185,678 (GRCm39) |
D139G |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,810,244 (GRCm39) |
N343K |
probably benign |
Het |
Vnn1 |
A |
G |
10: 23,780,464 (GRCm39) |
D484G |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,770,919 (GRCm39) |
T2121A |
probably benign |
Het |
Wdr81 |
T |
C |
11: 75,345,216 (GRCm39) |
E17G |
probably benign |
Het |
Wnk2 |
T |
G |
13: 49,224,505 (GRCm39) |
K1117Q |
probably benign |
Het |
Zbtb46 |
C |
T |
2: 181,066,138 (GRCm39) |
R4Q |
probably benign |
Het |
Zfp608 |
T |
A |
18: 55,032,190 (GRCm39) |
K583N |
probably damaging |
Het |
Zfp729b |
A |
T |
13: 67,740,480 (GRCm39) |
L595H |
probably 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 |
R0321:Pik3r4
|
UTSW |
9 |
105,525,906 (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 |
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'- TCACCTTGCTCTGACACAG -3'
(R):5'- AGAGATTTTCACGTGCCTCC -3'
Sequencing Primer
(F):5'- CAGAGACCTGTGCTGTGTCTCAG -3'
(R):5'- GTGCCTCCCTAACCAAAGCTTG -3'
|
Posted On |
2021-12-30 |