Incidental Mutation 'R7891:Frmpd1'
| ID |
609319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd1
|
| Ensembl Gene |
ENSMUSG00000035615 |
| Gene Name |
FERM and PDZ domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045943-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45284478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1100
(S1100G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
| AlphaFold |
A2AKB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044773
AA Change: S1100G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: S1100G
| 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 benign
Transcript: ENSMUST00000107804
AA Change: S1100G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: S1100G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
G |
2: 164,920,864 (GRCm39) |
E56D |
unknown |
Het |
| 9930111J21Rik2 |
T |
C |
11: 48,910,543 (GRCm39) |
Q630R |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,054,098 (GRCm39) |
V68A |
probably benign |
Het |
| Acnat1 |
G |
A |
4: 49,449,181 (GRCm39) |
A195V |
possibly damaging |
Het |
| Acsl3 |
C |
T |
1: 78,681,305 (GRCm39) |
A612V |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,599,961 (GRCm39) |
D115E |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,197,513 (GRCm39) |
|
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,600 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,824,139 (GRCm39) |
D154G |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,717,442 (GRCm39) |
C233R |
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,799,146 (GRCm39) |
D74E |
unknown |
Het |
| Cckbr |
T |
A |
7: 105,084,557 (GRCm39) |
D430E |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,451,939 (GRCm39) |
H667R |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,931,263 (GRCm39) |
E1426G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,609,590 (GRCm39) |
I2791V |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,123,387 (GRCm39) |
N130S |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,306,964 (GRCm39) |
T218A |
probably benign |
Het |
| Foxe1 |
G |
A |
4: 46,344,599 (GRCm39) |
E136K |
possibly damaging |
Het |
| Gask1b |
G |
A |
3: 79,793,591 (GRCm39) |
A20T |
probably benign |
Het |
| Gm21886 |
T |
G |
18: 80,132,972 (GRCm39) |
Q62P |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,385,434 (GRCm39) |
E852G |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,696 (GRCm39) |
D537G |
probably benign |
Het |
| Gpx5 |
C |
A |
13: 21,472,918 (GRCm39) |
D139Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,468,940 (GRCm39) |
Y5007C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,235,832 (GRCm39) |
R1450* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,840,517 (GRCm39) |
P1200S |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,505,109 (GRCm39) |
R3400C |
probably damaging |
Het |
| Miox |
A |
C |
15: 89,220,742 (GRCm39) |
M216L |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,428,967 (GRCm39) |
Y687C |
probably damaging |
Het |
| Mxi1 |
T |
A |
19: 53,299,192 (GRCm39) |
V21D |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,299,591 (GRCm39) |
L1309P |
probably benign |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,421 (GRCm39) |
T99S |
possibly damaging |
Het |
| Or13c25 |
C |
T |
4: 52,911,663 (GRCm39) |
V44I |
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,289 (GRCm39) |
V121I |
probably benign |
Het |
| Or7g22 |
T |
C |
9: 19,049,141 (GRCm39) |
M284T |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,848,244 (GRCm39) |
T284A |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,577,714 (GRCm39) |
M295K |
probably damaging |
Het |
| Pou2af1 |
G |
T |
9: 51,144,297 (GRCm39) |
M70I |
probably damaging |
Het |
| Pou3f1 |
G |
A |
4: 124,552,232 (GRCm39) |
E245K |
probably damaging |
Het |
| Psmb1 |
C |
T |
17: 15,714,748 (GRCm39) |
V50I |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,069,434 (GRCm39) |
D50G |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,334,443 (GRCm39) |
I955M |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,677,935 (GRCm39) |
T97I |
probably benign |
Het |
| Rasef |
T |
C |
4: 73,709,201 (GRCm39) |
T11A |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,588,995 (GRCm39) |
L710F |
probably damaging |
Het |
| Slc39a10 |
C |
T |
1: 46,851,328 (GRCm39) |
A721T |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,139 (GRCm39) |
C1330R |
possibly damaging |
Het |
| Susd1 |
T |
C |
4: 59,349,915 (GRCm39) |
D560G |
possibly damaging |
Het |
| Tnfrsf1b |
T |
C |
4: 144,955,660 (GRCm39) |
Y32C |
probably damaging |
Het |
| Trhr2 |
C |
A |
8: 123,084,083 (GRCm39) |
V306F |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,754,074 (GRCm39) |
Q35L |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,616,510 (GRCm39) |
S197P |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,280,059 (GRCm39) |
E806D |
probably benign |
Het |
| Ushbp1 |
T |
G |
8: 71,841,422 (GRCm39) |
Q469P |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,491,036 (GRCm39) |
V285I |
possibly damaging |
Het |
| Zfp934 |
A |
C |
13: 62,668,003 (GRCm39) |
S63R |
probably benign |
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 |
|
R7295:Frmpd1
|
UTSW |
4 |
45,285,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCAAGGAGACACATCAGAGCTG -3'
(R):5'- TTCCCCTTCAGAGTCAGATGAG -3'
Sequencing Primer
(F):5'- CATCAGAGCTGGGAGAGGTGC -3'
(R):5'- AGGTCTGTCCTGTCCCTGTTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation