Incidental Mutation 'R0103:Frmpd1'
ID |
34455 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmpd1
|
Ensembl Gene |
ENSMUSG00000035615 |
Gene Name |
FERM and PDZ domain containing 1 |
Synonyms |
|
MMRRC Submission |
038389-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0103 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
4 |
Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 45229884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 17
(I17K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
[ENSMUST00000134280]
|
AlphaFold |
A2AKB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044773
AA Change: I17K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047232 Gene: ENSMUSG00000035615 AA Change: I17K
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: I17K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103434 Gene: ENSMUSG00000035615 AA Change: I17K
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 |
possibly damaging
Transcript: ENSMUST00000134280
AA Change: I17K
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118757 Gene: ENSMUSG00000035615 AA Change: I17K
Domain | Start | End | E-Value | Type |
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134640
|
Meta Mutation Damage Score |
0.1851 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
99% (84/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,223,951 (GRCm39) |
R443S |
probably damaging |
Het |
Anapc1 |
T |
C |
2: 128,522,372 (GRCm39) |
|
probably benign |
Het |
Aqr |
T |
A |
2: 113,979,497 (GRCm39) |
I313F |
probably damaging |
Het |
Arfgap3 |
A |
T |
15: 83,206,922 (GRCm39) |
|
probably benign |
Het |
Asah2 |
G |
T |
19: 31,996,377 (GRCm39) |
H374N |
probably benign |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Ccdc106 |
C |
A |
7: 5,060,544 (GRCm39) |
Q35K |
probably benign |
Het |
Ccm2l |
G |
T |
2: 152,909,839 (GRCm39) |
E64* |
probably null |
Het |
Cep85l |
A |
T |
10: 53,154,270 (GRCm39) |
D776E |
possibly damaging |
Het |
Cfap52 |
T |
A |
11: 67,815,951 (GRCm39) |
I611F |
possibly damaging |
Het |
Cldn22 |
C |
T |
8: 48,277,589 (GRCm39) |
T9M |
probably benign |
Het |
Coa7 |
T |
C |
4: 108,195,338 (GRCm39) |
L89P |
possibly damaging |
Het |
Cox7a2l |
A |
T |
17: 83,821,701 (GRCm39) |
Y2N |
probably damaging |
Het |
Ctns |
A |
C |
11: 73,076,137 (GRCm39) |
I299M |
probably damaging |
Het |
Cyp27a1 |
A |
C |
1: 74,775,074 (GRCm39) |
E301A |
probably benign |
Het |
Cyp2b13 |
A |
T |
7: 25,788,135 (GRCm39) |
K421M |
probably damaging |
Het |
Cyp4f40 |
G |
T |
17: 32,895,282 (GRCm39) |
C468F |
probably damaging |
Het |
Cyp4f40 |
C |
A |
17: 32,895,283 (GRCm39) |
C468* |
probably null |
Het |
Dcun1d5 |
G |
A |
9: 7,188,788 (GRCm39) |
C74Y |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,730,683 (GRCm39) |
Y860C |
probably benign |
Het |
Dgkz |
T |
C |
2: 91,764,550 (GRCm39) |
T1028A |
probably benign |
Het |
Dhx58 |
T |
C |
11: 100,586,096 (GRCm39) |
T642A |
probably damaging |
Het |
Dlg4 |
A |
G |
11: 69,922,019 (GRCm39) |
Y87C |
probably damaging |
Het |
Dnah6 |
C |
T |
6: 73,069,155 (GRCm39) |
E2511K |
probably damaging |
Het |
Entpd5 |
C |
A |
12: 84,443,717 (GRCm39) |
E9* |
probably null |
Het |
Fbln2 |
A |
C |
6: 91,248,532 (GRCm39) |
I1066L |
probably benign |
Het |
Fhl2 |
C |
T |
1: 43,192,381 (GRCm39) |
R4H |
probably benign |
Het |
Galnt2l |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
Gbp7 |
T |
A |
3: 142,252,299 (GRCm39) |
N627K |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,265,381 (GRCm39) |
Y331C |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,903,366 (GRCm39) |
E521G |
possibly damaging |
Het |
Hibadh |
T |
A |
6: 52,534,862 (GRCm39) |
M173L |
probably benign |
Het |
Iba57 |
C |
T |
11: 59,054,439 (GRCm39) |
A27T |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,152,790 (GRCm39) |
I211V |
probably benign |
Het |
Keg1 |
A |
T |
19: 12,696,280 (GRCm39) |
I155F |
possibly damaging |
Het |
Krt84 |
T |
C |
15: 101,438,671 (GRCm39) |
E272G |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,307,384 (GRCm39) |
V2892L |
probably benign |
Het |
Ltb |
A |
G |
17: 35,414,016 (GRCm39) |
|
probably benign |
Het |
Masp1 |
G |
A |
16: 23,276,768 (GRCm39) |
P579L |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,618,359 (GRCm39) |
M1724K |
probably benign |
Het |
Myo3a |
T |
G |
2: 22,436,360 (GRCm39) |
|
probably benign |
Het |
Myo9b |
C |
T |
8: 71,776,493 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
G |
T |
11: 62,233,871 (GRCm39) |
Q444K |
possibly damaging |
Het |
Nek7 |
A |
T |
1: 138,471,980 (GRCm39) |
C53* |
probably null |
Het |
Obscn |
G |
T |
11: 58,953,522 (GRCm39) |
Y4044* |
probably null |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Pcdh15 |
A |
T |
10: 74,046,257 (GRCm39) |
D178V |
probably damaging |
Het |
Pcsk6 |
T |
C |
7: 65,578,845 (GRCm39) |
|
probably benign |
Het |
Phxr4 |
T |
C |
9: 13,343,087 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,593,583 (GRCm39) |
D1510V |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,460,537 (GRCm39) |
C4249R |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,045,972 (GRCm39) |
Y968H |
possibly damaging |
Het |
Prpf39 |
T |
C |
12: 65,102,057 (GRCm39) |
V378A |
possibly damaging |
Het |
Psd2 |
A |
G |
18: 36,137,770 (GRCm39) |
N455S |
probably damaging |
Het |
Ptch2 |
C |
A |
4: 116,966,622 (GRCm39) |
|
probably benign |
Het |
Rab4b |
A |
G |
7: 26,873,927 (GRCm39) |
I117T |
probably benign |
Het |
Rad9b |
A |
T |
5: 122,469,590 (GRCm39) |
V348E |
probably damaging |
Het |
Rcor1 |
T |
C |
12: 111,076,212 (GRCm39) |
|
probably benign |
Het |
Rhoc |
A |
T |
3: 104,699,307 (GRCm39) |
E32V |
possibly damaging |
Het |
Rnf40 |
T |
G |
7: 127,199,743 (GRCm39) |
V925G |
probably damaging |
Het |
Rptor |
G |
T |
11: 119,775,793 (GRCm39) |
R988L |
probably benign |
Het |
Slc25a32 |
A |
T |
15: 38,963,292 (GRCm39) |
Y176* |
probably null |
Het |
Slc7a1 |
T |
A |
5: 148,289,236 (GRCm39) |
K4* |
probably null |
Het |
Ss18 |
A |
C |
18: 14,812,478 (GRCm39) |
Y38D |
probably damaging |
Het |
Syt4 |
T |
A |
18: 31,580,273 (GRCm39) |
|
probably benign |
Het |
Taar4 |
A |
T |
10: 23,837,304 (GRCm39) |
N305Y |
probably damaging |
Het |
Taar7b |
A |
T |
10: 23,876,192 (GRCm39) |
Y119F |
probably benign |
Het |
Tcaf1 |
G |
T |
6: 42,663,324 (GRCm39) |
D185E |
probably benign |
Het |
Tmem138 |
T |
C |
19: 10,552,316 (GRCm39) |
N62S |
possibly damaging |
Het |
Tnfaip2 |
C |
T |
12: 111,412,244 (GRCm39) |
T215M |
probably benign |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tnfrsf25 |
C |
T |
4: 152,201,405 (GRCm39) |
P65S |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,067,240 (GRCm39) |
S495R |
possibly damaging |
Het |
Trpv3 |
T |
C |
11: 73,184,805 (GRCm39) |
F597S |
probably damaging |
Het |
Tsc22d4 |
A |
C |
5: 137,745,378 (GRCm39) |
M1L |
possibly damaging |
Het |
Ttc39a |
A |
G |
4: 109,278,650 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
G |
2: 76,591,570 (GRCm39) |
H21033P |
probably damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,484,577 (GRCm39) |
V149A |
possibly damaging |
Het |
Ush2a |
T |
G |
1: 188,051,267 (GRCm39) |
I251R |
possibly damaging |
Het |
Vamp4 |
T |
C |
1: 162,417,108 (GRCm39) |
C114R |
possibly damaging |
Het |
Wdr33 |
T |
C |
18: 31,966,388 (GRCm39) |
V135A |
probably damaging |
Het |
Zc3h13 |
T |
A |
14: 75,567,908 (GRCm39) |
V1067E |
probably damaging |
Het |
Zcwpw1 |
G |
A |
5: 137,808,375 (GRCm39) |
W274* |
probably null |
Het |
Zfp219 |
T |
A |
14: 52,244,163 (GRCm39) |
H627L |
probably 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 |
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 |
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'- AGCCTTCTGTGTGAGACACAAAAGC -3'
(R):5'- ATGGCAGCAGATCAAAGCCAGC -3'
Sequencing Primer
(F):5'- ACTCTTCAGGCAAGGGATGC -3'
(R):5'- GCCAGGAACAGGAAGTCCC -3'
|
Posted On |
2013-05-09 |