Incidental Mutation 'R0109:Frmpd1'
ID |
17702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmpd1
|
Ensembl Gene |
ENSMUSG00000035615 |
Gene Name |
FERM and PDZ domain containing 1 |
Synonyms |
|
MMRRC Submission |
038395-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0109 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45279340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 688
(E688D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
AlphaFold |
A2AKB4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044773
AA Change: E688D
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000047232 Gene: ENSMUSG00000035615 AA Change: E688D
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: E688D
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103434 Gene: ENSMUSG00000035615 AA Change: E688D
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 |
0.0995 |
Coding Region Coverage |
- 1x: 90.6%
- 3x: 88.5%
- 10x: 83.8%
- 20x: 77.5%
|
Validation Efficiency |
90% (95/106) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,636,262 (GRCm39) |
H710Q |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,917,985 (GRCm39) |
K1496* |
probably null |
Het |
Anapc1 |
C |
A |
2: 128,476,613 (GRCm39) |
R1335L |
probably damaging |
Het |
Arhgef10l |
A |
T |
4: 140,305,605 (GRCm39) |
S203T |
probably benign |
Het |
Astn1 |
C |
T |
1: 158,491,674 (GRCm39) |
T41I |
possibly damaging |
Het |
Atrnl1 |
T |
A |
19: 57,743,949 (GRCm39) |
Y1184N |
possibly damaging |
Het |
Avil |
A |
G |
10: 126,849,513 (GRCm39) |
N603S |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,421,916 (GRCm39) |
D149G |
possibly damaging |
Het |
Car14 |
C |
A |
3: 95,806,763 (GRCm39) |
A234S |
probably benign |
Het |
Cep164 |
A |
C |
9: 45,682,885 (GRCm39) |
L935R |
probably damaging |
Het |
Cps1 |
T |
C |
1: 67,268,577 (GRCm39) |
V1435A |
possibly damaging |
Het |
Csmd2 |
T |
G |
4: 128,438,536 (GRCm39) |
S3038R |
probably benign |
Het |
Cyp2j6 |
A |
T |
4: 96,406,394 (GRCm39) |
I459N |
probably damaging |
Het |
Cyth1 |
T |
C |
11: 118,073,132 (GRCm39) |
E242G |
probably damaging |
Het |
Dclk3 |
T |
G |
9: 111,296,738 (GRCm39) |
L94R |
possibly damaging |
Het |
Disp2 |
T |
C |
2: 118,622,297 (GRCm39) |
S1010P |
probably damaging |
Het |
Dlec1 |
G |
A |
9: 118,934,892 (GRCm39) |
R145H |
probably damaging |
Het |
Dsg3 |
T |
C |
18: 20,673,191 (GRCm39) |
V954A |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,111,487 (GRCm39) |
D309V |
probably damaging |
Het |
Fam13b |
A |
G |
18: 34,584,361 (GRCm39) |
I601T |
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,216 (GRCm39) |
M325K |
possibly damaging |
Het |
Gabrb1 |
C |
T |
5: 72,279,289 (GRCm39) |
|
probably benign |
Het |
Gm6590 |
A |
T |
6: 130,461,869 (GRCm39) |
|
noncoding transcript |
Het |
Gse1 |
T |
A |
8: 121,294,524 (GRCm39) |
S284T |
probably damaging |
Het |
Ipo13 |
C |
T |
4: 117,762,213 (GRCm39) |
R387Q |
possibly damaging |
Het |
Kctd16 |
A |
G |
18: 40,392,204 (GRCm39) |
E264G |
probably benign |
Het |
Krt73 |
A |
T |
15: 101,704,830 (GRCm39) |
L352* |
probably null |
Het |
Mapk15 |
A |
T |
15: 75,867,926 (GRCm39) |
K153* |
probably null |
Het |
Mcemp1 |
C |
A |
8: 3,717,055 (GRCm39) |
Y65* |
probably null |
Het |
Mcoln2 |
C |
G |
3: 145,881,473 (GRCm39) |
R210G |
probably damaging |
Het |
Miox |
G |
A |
15: 89,219,784 (GRCm39) |
V91I |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,453,594 (GRCm39) |
E6G |
possibly damaging |
Het |
Ncapg |
A |
G |
5: 45,851,090 (GRCm39) |
|
probably null |
Het |
Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,147 (GRCm39) |
F111L |
probably benign |
Het |
Or52d1 |
T |
C |
7: 103,755,812 (GRCm39) |
S109P |
probably damaging |
Het |
Or5b94 |
C |
A |
19: 12,652,224 (GRCm39) |
F218L |
probably benign |
Het |
Osbp2 |
A |
C |
11: 3,661,791 (GRCm39) |
S754A |
probably benign |
Het |
Pard3 |
C |
T |
8: 128,125,147 (GRCm39) |
R712C |
probably damaging |
Het |
Parp9 |
T |
C |
16: 35,768,711 (GRCm39) |
I64T |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,710,974 (GRCm39) |
H81Q |
possibly damaging |
Het |
Pcnt |
G |
A |
10: 76,225,030 (GRCm39) |
P1825S |
probably benign |
Het |
Pfkfb4 |
T |
C |
9: 108,827,957 (GRCm39) |
V43A |
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,533,984 (GRCm39) |
V643E |
probably damaging |
Het |
Pip5k1a |
T |
C |
3: 94,972,753 (GRCm39) |
T433A |
probably benign |
Het |
Pip5k1b |
T |
A |
19: 24,356,411 (GRCm39) |
M176L |
probably benign |
Het |
Polg2 |
T |
C |
11: 106,667,958 (GRCm39) |
|
probably benign |
Het |
Pomp |
T |
A |
5: 147,812,323 (GRCm39) |
H136Q |
probably benign |
Het |
Ppfia4 |
A |
T |
1: 134,251,955 (GRCm39) |
|
probably null |
Het |
Prdx2 |
G |
A |
8: 85,696,880 (GRCm39) |
G4S |
probably benign |
Het |
Rbm28 |
C |
T |
6: 29,160,104 (GRCm39) |
G70D |
probably benign |
Het |
Rdh10 |
T |
A |
1: 16,176,489 (GRCm39) |
I83N |
probably damaging |
Het |
Rin3 |
A |
G |
12: 102,279,340 (GRCm39) |
I50V |
possibly damaging |
Het |
Rnf122 |
T |
C |
8: 31,614,877 (GRCm39) |
|
probably benign |
Het |
Sik2 |
A |
G |
9: 50,810,775 (GRCm39) |
M447T |
possibly damaging |
Het |
Sla2 |
A |
G |
2: 156,725,507 (GRCm39) |
|
probably null |
Het |
Slc51a |
T |
A |
16: 32,296,425 (GRCm39) |
I192L |
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,367,329 (GRCm39) |
|
probably benign |
Het |
Spata16 |
T |
A |
3: 26,967,416 (GRCm39) |
F389I |
probably damaging |
Het |
Srebf1 |
G |
A |
11: 60,092,630 (GRCm39) |
A793V |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,049,261 (GRCm39) |
V736A |
probably benign |
Het |
Tbx15 |
C |
A |
3: 99,259,182 (GRCm39) |
T351N |
possibly damaging |
Het |
Tep1 |
A |
G |
14: 51,089,373 (GRCm39) |
|
probably null |
Het |
Tmed11 |
T |
A |
5: 108,925,278 (GRCm39) |
D178V |
probably damaging |
Het |
Traf7 |
A |
G |
17: 24,732,900 (GRCm39) |
F110L |
probably benign |
Het |
Ubqlnl |
C |
T |
7: 103,799,399 (GRCm39) |
V33M |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,826,192 (GRCm39) |
|
probably null |
Het |
Vmn1r194 |
A |
G |
13: 22,429,217 (GRCm39) |
Y278C |
probably damaging |
Het |
Vmn1r46 |
T |
C |
6: 89,954,044 (GRCm39) |
F298L |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,572,265 (GRCm39) |
T961A |
probably benign |
Het |
Wdr48 |
G |
A |
9: 119,747,634 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
G |
A |
4: 19,641,725 (GRCm39) |
|
probably benign |
Het |
Zfp1001 |
A |
T |
2: 150,165,761 (GRCm39) |
|
probably benign |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp839 |
G |
A |
12: 110,827,308 (GRCm39) |
E400K |
possibly damaging |
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 |
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 |
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 |
|
Posted On |
2013-01-31 |