Incidental Mutation 'R7295:Frmpd1'
| ID |
566660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd1
|
| Ensembl Gene |
ENSMUSG00000035615 |
| Gene Name |
FERM and PDZ domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045363-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45285700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1507
(E1507G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
| AlphaFold |
A2AKB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044773
AA Change: E1507G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: E1507G
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
|
B41
|
177 |
401 |
4.85e-30 |
SMART |
|
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
597 |
N/A |
INTRINSIC |
|
PDB:4G2V|B
|
901 |
938 |
2e-15 |
PDB |
|
low complexity region
|
962 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1130 |
N/A |
INTRINSIC |
|
Blast:B41
|
1264 |
1488 |
3e-44 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107804
AA Change: E1507G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: E1507G
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
|
B41
|
177 |
401 |
4.85e-30 |
SMART |
|
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
597 |
N/A |
INTRINSIC |
|
PDB:4G2V|B
|
901 |
938 |
2e-15 |
PDB |
|
low complexity region
|
962 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1130 |
N/A |
INTRINSIC |
|
Blast:B41
|
1264 |
1488 |
3e-44 |
BLAST |
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Acp7 |
A |
T |
7: 28,328,955 (GRCm39) |
F75Y |
possibly damaging |
Het |
| Adamts19 |
T |
A |
18: 58,970,955 (GRCm39) |
Y180N |
probably damaging |
Het |
| Adck1 |
G |
T |
12: 88,397,815 (GRCm39) |
D150Y |
probably damaging |
Het |
| Alb |
T |
A |
5: 90,610,693 (GRCm39) |
|
probably null |
Het |
| Baat |
A |
T |
4: 49,490,275 (GRCm39) |
Y270N |
probably damaging |
Het |
| Bmp7 |
A |
T |
2: 172,781,690 (GRCm39) |
I58N |
probably damaging |
Het |
| Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
| Cbfa2t3 |
T |
G |
8: 123,364,768 (GRCm39) |
D338A |
probably benign |
Het |
| Ccnd2 |
A |
T |
6: 127,125,725 (GRCm39) |
C104S |
possibly damaging |
Het |
| Clip1 |
G |
T |
5: 123,765,419 (GRCm39) |
Q713K |
probably benign |
Het |
| Ddx28 |
G |
A |
8: 106,737,476 (GRCm39) |
S194L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,631,183 (GRCm39) |
|
probably null |
Het |
| Edil3 |
T |
A |
13: 89,279,902 (GRCm39) |
Y193* |
probably null |
Het |
| Eprs1 |
A |
G |
1: 185,150,407 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
T |
G |
13: 63,967,589 (GRCm39) |
I63R |
probably damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,329,064 (GRCm39) |
E565G |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,177,407 (GRCm39) |
D1810V |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,817,190 (GRCm39) |
S506P |
probably benign |
Het |
| Gfm1 |
G |
A |
3: 67,347,514 (GRCm39) |
V258I |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,538,876 (GRCm39) |
V174A |
probably benign |
Het |
| Gtpbp3 |
C |
A |
8: 71,942,139 (GRCm39) |
S123R |
possibly damaging |
Het |
| H2bc8 |
T |
C |
13: 23,755,943 (GRCm39) |
S113P |
probably benign |
Het |
| Hbs1l |
T |
C |
10: 21,186,051 (GRCm39) |
V491A |
probably benign |
Het |
| Hoxc12 |
A |
G |
15: 102,846,810 (GRCm39) |
N234S |
probably damaging |
Het |
| Il22b |
A |
T |
10: 118,130,848 (GRCm39) |
L16* |
probably null |
Het |
| Kcnj5 |
T |
C |
9: 32,234,087 (GRCm39) |
D76G |
probably damaging |
Het |
| Klhl11 |
A |
G |
11: 100,363,068 (GRCm39) |
Y163H |
probably damaging |
Het |
| Lonp1 |
G |
T |
17: 56,929,495 (GRCm39) |
Q181K |
possibly damaging |
Het |
| Mgst1 |
A |
T |
6: 138,124,754 (GRCm39) |
I23F |
probably benign |
Het |
| Muc21 |
G |
A |
17: 35,929,761 (GRCm39) |
A1475V |
unknown |
Het |
| Myocos |
T |
C |
1: 162,484,687 (GRCm39) |
R41G |
unknown |
Het |
| Myod1 |
A |
G |
7: 46,027,643 (GRCm39) |
D261G |
probably benign |
Het |
| Nop14 |
C |
T |
5: 34,796,376 (GRCm39) |
R781Q |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,438,083 (GRCm39) |
V63A |
probably benign |
Het |
| Ntsr1 |
A |
T |
2: 180,142,725 (GRCm39) |
H172L |
probably damaging |
Het |
| Or4k6 |
T |
C |
14: 50,476,073 (GRCm39) |
K90E |
probably damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,739 (GRCm39) |
E232V |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,139,979 (GRCm39) |
V536A |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,101,189 (GRCm39) |
N127K |
probably damaging |
Het |
| Prps1l1 |
T |
A |
12: 35,035,679 (GRCm39) |
C265S |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,097,261 (GRCm39) |
S922G |
probably benign |
Het |
| Qpctl |
A |
T |
7: 18,883,055 (GRCm39) |
M19K |
probably benign |
Het |
| Rad51 |
C |
T |
2: 118,964,599 (GRCm39) |
T230I |
possibly damaging |
Het |
| Rad9b |
A |
G |
5: 122,472,341 (GRCm39) |
F246L |
possibly damaging |
Het |
| Rarb |
A |
T |
14: 16,508,932 (GRCm38) |
|
probably null |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,321 (GRCm39) |
S214P |
possibly damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,875,892 (GRCm39) |
M441L |
probably benign |
Het |
| Slc35f1 |
G |
A |
10: 52,938,637 (GRCm39) |
V190I |
probably benign |
Het |
| Spon1 |
A |
T |
7: 113,629,475 (GRCm39) |
Q373L |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,842,122 (GRCm39) |
|
probably null |
Het |
| Sult1e1 |
T |
A |
5: 87,726,512 (GRCm39) |
R201* |
probably null |
Het |
| Traj32 |
T |
A |
14: 54,423,606 (GRCm39) |
L16Q |
|
Het |
| Ttc16 |
T |
C |
2: 32,664,437 (GRCm39) |
I67V |
probably null |
Het |
| Ttn |
T |
A |
2: 76,556,899 (GRCm39) |
K30035N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,776,473 (GRCm39) |
Y1607F |
unknown |
Het |
| Usp16 |
G |
A |
16: 87,268,977 (GRCm39) |
R290H |
probably benign |
Het |
| Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
| Xpnpep3 |
A |
G |
15: 81,298,735 (GRCm39) |
H56R |
probably damaging |
Het |
| Zfp592 |
G |
T |
7: 80,674,070 (GRCm39) |
D345Y |
probably damaging |
Het |
| Zfp931 |
A |
T |
2: 177,709,824 (GRCm39) |
Y187* |
probably null |
Het |
|
| Other mutations in Frmpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Frmpd1
|
APN |
4 |
45,279,456 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01678:Frmpd1
|
APN |
4 |
45,243,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01815:Frmpd1
|
APN |
4 |
45,284,239 (GRCm39) |
missense |
probably benign |
|
|
IGL02305:Frmpd1
|
APN |
4 |
45,249,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02347:Frmpd1
|
APN |
4 |
45,270,023 (GRCm39) |
splice site |
probably null |
|
|
IGL02586:Frmpd1
|
APN |
4 |
45,285,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Frmpd1
|
APN |
4 |
45,285,082 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02942:Frmpd1
|
APN |
4 |
45,285,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03353:Frmpd1
|
APN |
4 |
45,261,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Frmpd1
|
APN |
4 |
45,279,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03401:Frmpd1
|
APN |
4 |
45,284,383 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03047:Frmpd1
|
UTSW |
4 |
45,283,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0094:Frmpd1
|
UTSW |
4 |
45,284,899 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0375:Frmpd1
|
UTSW |
4 |
45,284,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0508:Frmpd1
|
UTSW |
4 |
45,284,938 (GRCm39) |
missense |
unknown |
|
|
R0524:Frmpd1
|
UTSW |
4 |
45,283,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0524:Frmpd1
|
UTSW |
4 |
45,256,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Frmpd1
|
UTSW |
4 |
45,284,055 (GRCm39) |
missense |
probably benign |
|
|
R0825:Frmpd1
|
UTSW |
4 |
45,285,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0926:Frmpd1
|
UTSW |
4 |
45,268,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Frmpd1
|
UTSW |
4 |
45,279,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Frmpd1
|
UTSW |
4 |
45,283,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1938:Frmpd1
|
UTSW |
4 |
45,283,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2334:Frmpd1
|
UTSW |
4 |
45,285,408 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2413:Frmpd1
|
UTSW |
4 |
45,278,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2760:Frmpd1
|
UTSW |
4 |
45,244,667 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3856:Frmpd1
|
UTSW |
4 |
45,283,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Frmpd1
|
UTSW |
4 |
45,284,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4080:Frmpd1
|
UTSW |
4 |
45,284,382 (GRCm39) |
missense |
probably benign |
|
|
R4597:Frmpd1
|
UTSW |
4 |
45,274,441 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4714:Frmpd1
|
UTSW |
4 |
45,284,785 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4779:Frmpd1
|
UTSW |
4 |
45,229,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Frmpd1
|
UTSW |
4 |
45,273,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Frmpd1
|
UTSW |
4 |
45,261,931 (GRCm39) |
splice site |
probably null |
|
|
R5041:Frmpd1
|
UTSW |
4 |
45,278,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5228:Frmpd1
|
UTSW |
4 |
45,284,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5413:Frmpd1
|
UTSW |
4 |
45,249,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5560:Frmpd1
|
UTSW |
4 |
45,243,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6133:Frmpd1
|
UTSW |
4 |
45,284,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6158:Frmpd1
|
UTSW |
4 |
45,285,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Frmpd1
|
UTSW |
4 |
45,268,551 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6338:Frmpd1
|
UTSW |
4 |
45,274,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6544:Frmpd1
|
UTSW |
4 |
45,279,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Frmpd1
|
UTSW |
4 |
45,284,664 (GRCm39) |
missense |
probably benign |
|
|
R6748:Frmpd1
|
UTSW |
4 |
45,274,397 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6798:Frmpd1
|
UTSW |
4 |
45,284,850 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6828:Frmpd1
|
UTSW |
4 |
45,275,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7002:Frmpd1
|
UTSW |
4 |
45,284,200 (GRCm39) |
missense |
probably benign |
|
|
R7258:Frmpd1
|
UTSW |
4 |
45,269,974 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7382:Frmpd1
|
UTSW |
4 |
45,278,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7423:Frmpd1
|
UTSW |
4 |
45,256,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Frmpd1
|
UTSW |
4 |
45,279,558 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7492:Frmpd1
|
UTSW |
4 |
45,285,237 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7524:Frmpd1
|
UTSW |
4 |
45,271,181 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7610:Frmpd1
|
UTSW |
4 |
45,279,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Frmpd1
|
UTSW |
4 |
45,284,841 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7724:Frmpd1
|
UTSW |
4 |
45,229,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7891:Frmpd1
|
UTSW |
4 |
45,284,478 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8010:Frmpd1
|
UTSW |
4 |
45,284,272 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8260:Frmpd1
|
UTSW |
4 |
45,244,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8528:Frmpd1
|
UTSW |
4 |
45,285,034 (GRCm39) |
missense |
probably benign |
|
|
R8794:Frmpd1
|
UTSW |
4 |
45,279,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8798:Frmpd1
|
UTSW |
4 |
45,285,424 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8954:Frmpd1
|
UTSW |
4 |
45,284,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9058:Frmpd1
|
UTSW |
4 |
45,283,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Frmpd1
|
UTSW |
4 |
45,285,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Frmpd1
|
UTSW |
4 |
45,284,127 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9408:Frmpd1
|
UTSW |
4 |
45,279,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9532:Frmpd1
|
UTSW |
4 |
45,278,886 (GRCm39) |
missense |
|
|
|
Z1088:Frmpd1
|
UTSW |
4 |
45,284,080 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Frmpd1
|
UTSW |
4 |
45,275,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATGCATGGGCTCACAGAAG -3'
(R):5'- AACAAGAAGAGGCTCCTTGG -3'
Sequencing Primer
(F):5'- ATGGGCTCACAGAAGCTCCTAG -3'
(R):5'- CTCCTTGGAGAGGGGCCTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation