Incidental Mutation 'R5560:Frmpd1'
ID |
436504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmpd1
|
Ensembl Gene |
ENSMUSG00000035615 |
Gene Name |
FERM and PDZ domain containing 1 |
Synonyms |
|
MMRRC Submission |
043117-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5560 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
45184875-45285936 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45243697 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 57
(T57S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
[ENSMUST00000134280]
|
AlphaFold |
A2AKB4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044773
AA Change: T57S
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000047232 Gene: ENSMUSG00000035615 AA Change: T57S
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: ENSMUST00000107804
AA Change: T57S
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103434 Gene: ENSMUSG00000035615 AA Change: T57S
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: ENSMUST00000134280
AA Change: T57S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118757 Gene: ENSMUSG00000035615 AA Change: T57S
Domain | Start | End | E-Value | Type |
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134640
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,506,354 (GRCm38) |
E98K |
possibly damaging |
Het |
Adipor1 |
T |
C |
1: 134,426,040 (GRCm38) |
W188R |
possibly damaging |
Het |
Agrn |
T |
C |
4: 156,178,497 (GRCm38) |
D441G |
probably damaging |
Het |
Ankrd55 |
T |
C |
13: 112,383,490 (GRCm38) |
S570P |
probably benign |
Het |
Ano9 |
C |
G |
7: 141,110,482 (GRCm38) |
G80R |
probably damaging |
Het |
Arhgef2 |
T |
A |
3: 88,634,437 (GRCm38) |
V250E |
probably damaging |
Het |
Atp2b2 |
T |
C |
6: 113,774,358 (GRCm38) |
D583G |
possibly damaging |
Het |
Bcar3 |
T |
A |
3: 122,426,575 (GRCm38) |
D40E |
possibly damaging |
Het |
Capn12 |
A |
G |
7: 28,882,860 (GRCm38) |
D133G |
probably benign |
Het |
Ccna1 |
A |
T |
3: 55,048,569 (GRCm38) |
Y269N |
probably damaging |
Het |
Cct6b |
A |
T |
11: 82,741,413 (GRCm38) |
Y250N |
probably damaging |
Het |
Cep112 |
A |
C |
11: 108,437,235 (GRCm38) |
K98Q |
probably damaging |
Het |
Chst13 |
T |
C |
6: 90,318,269 (GRCm38) |
D54G |
probably damaging |
Het |
Clstn2 |
G |
T |
9: 97,469,819 (GRCm38) |
H518N |
possibly damaging |
Het |
Cntnap1 |
T |
A |
11: 101,182,435 (GRCm38) |
L581M |
probably damaging |
Het |
Cog3 |
T |
A |
14: 75,729,393 (GRCm38) |
M446L |
probably damaging |
Het |
Dennd2c |
T |
A |
3: 103,161,555 (GRCm38) |
I756K |
probably damaging |
Het |
Dennd3 |
T |
G |
15: 73,532,895 (GRCm38) |
L273R |
probably damaging |
Het |
Dhx34 |
C |
A |
7: 16,218,541 (GRCm38) |
R53L |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,881,740 (GRCm38) |
T3722I |
probably benign |
Het |
Dnajb12 |
GC |
G |
10: 59,892,752 (GRCm38) |
|
probably null |
Het |
Dusp6 |
A |
G |
10: 99,266,241 (GRCm38) |
Y217C |
probably damaging |
Het |
Dyrk1b |
G |
A |
7: 28,184,253 (GRCm38) |
R178Q |
possibly damaging |
Het |
Eif4g1 |
T |
A |
16: 20,686,895 (GRCm38) |
C1009S |
probably benign |
Het |
Gask1a |
T |
C |
9: 121,978,223 (GRCm38) |
F478L |
possibly damaging |
Het |
Gjc2 |
A |
G |
11: 59,177,359 (GRCm38) |
V99A |
possibly damaging |
Het |
Gm9955 |
A |
T |
18: 24,709,092 (GRCm38) |
|
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,826,290 (GRCm38) |
I734V |
possibly damaging |
Het |
H1f2 |
A |
G |
13: 23,739,407 (GRCm38) |
S187G |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,451,119 (GRCm38) |
H2494L |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
Hmgcs1 |
A |
G |
13: 119,699,815 (GRCm38) |
|
probably null |
Het |
Invs |
A |
T |
4: 48,416,084 (GRCm38) |
T655S |
probably benign |
Het |
Ipo9 |
G |
A |
1: 135,402,245 (GRCm38) |
L486F |
probably damaging |
Het |
Katnip |
T |
C |
7: 125,854,561 (GRCm38) |
V1150A |
probably benign |
Het |
Kcnj6 |
A |
T |
16: 94,832,965 (GRCm38) |
L96M |
probably benign |
Het |
Lfng |
A |
G |
5: 140,614,267 (GRCm38) |
D354G |
possibly damaging |
Het |
Lgsn |
T |
C |
1: 31,196,872 (GRCm38) |
L139P |
probably damaging |
Het |
Madd |
C |
A |
2: 91,163,545 (GRCm38) |
V923L |
probably damaging |
Het |
Mical1 |
A |
T |
10: 41,478,965 (GRCm38) |
I157F |
probably damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,152,816 (GRCm38) |
N154S |
possibly damaging |
Het |
Mrps14 |
A |
G |
1: 160,195,535 (GRCm38) |
K6R |
probably benign |
Het |
Mug1 |
T |
A |
6: 121,861,073 (GRCm38) |
C421S |
probably damaging |
Het |
Myo18b |
A |
G |
5: 112,868,295 (GRCm38) |
I696T |
probably damaging |
Het |
Naf1 |
T |
C |
8: 66,883,545 (GRCm38) |
Y375H |
probably damaging |
Het |
Nsf |
T |
A |
11: 103,863,255 (GRCm38) |
E485V |
possibly damaging |
Het |
Nup188 |
A |
G |
2: 30,309,885 (GRCm38) |
D307G |
probably damaging |
Het |
Ocel1 |
C |
A |
8: 71,372,478 (GRCm38) |
P108T |
probably damaging |
Het |
Oip5 |
A |
G |
2: 119,613,059 (GRCm38) |
S177P |
probably damaging |
Het |
Omg |
A |
G |
11: 79,501,758 (GRCm38) |
W425R |
possibly damaging |
Het |
Or1ad8 |
A |
C |
11: 51,007,523 (GRCm38) |
I184L |
possibly damaging |
Het |
Or1l4 |
A |
G |
2: 37,201,930 (GRCm38) |
I230V |
probably benign |
Het |
Or5an10 |
G |
A |
19: 12,298,644 (GRCm38) |
Q163* |
probably null |
Het |
Or8g26 |
A |
C |
9: 39,184,184 (GRCm38) |
E2A |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,253,407 (GRCm38) |
Y1339C |
probably damaging |
Het |
Polr3e |
A |
G |
7: 120,922,949 (GRCm38) |
D6G |
possibly damaging |
Het |
Pou4f3 |
C |
A |
18: 42,395,415 (GRCm38) |
P141Q |
probably benign |
Het |
Rcsd1 |
T |
A |
1: 165,655,501 (GRCm38) |
N337I |
possibly damaging |
Het |
Rhoj |
C |
T |
12: 75,391,712 (GRCm38) |
P91S |
probably damaging |
Het |
Rnf10 |
A |
G |
5: 115,249,998 (GRCm38) |
F367S |
probably damaging |
Het |
Rnft1 |
A |
T |
11: 86,493,196 (GRCm38) |
R307S |
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,754,877 (GRCm38) |
F2788Y |
probably damaging |
Het |
Scgb1c1 |
A |
G |
7: 140,846,224 (GRCm38) |
K78E |
possibly damaging |
Het |
Scn5a |
G |
T |
9: 119,560,286 (GRCm38) |
A123E |
probably damaging |
Het |
Setd2 |
T |
A |
9: 110,549,839 (GRCm38) |
Y623* |
probably null |
Het |
Slc49a3 |
A |
T |
5: 108,448,863 (GRCm38) |
M1K |
probably null |
Het |
Spmap2l |
A |
G |
5: 77,016,486 (GRCm38) |
D112G |
possibly damaging |
Het |
Tbl2 |
C |
T |
5: 135,157,591 (GRCm38) |
Q216* |
probably null |
Het |
Tnc |
A |
G |
4: 64,008,709 (GRCm38) |
I860T |
probably damaging |
Het |
Trafd1 |
T |
C |
5: 121,373,303 (GRCm38) |
K484R |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,390,567 (GRCm38) |
V2124A |
probably damaging |
Het |
Trpm4 |
A |
T |
7: 45,310,332 (GRCm38) |
W713R |
probably damaging |
Het |
Uap1l1 |
T |
C |
2: 25,362,676 (GRCm38) |
T451A |
probably benign |
Het |
Uba6 |
A |
T |
5: 86,131,260 (GRCm38) |
C668S |
probably damaging |
Het |
Ubxn11 |
T |
C |
4: 134,126,624 (GRCm38) |
F441S |
probably damaging |
Het |
Vmn1r22 |
C |
T |
6: 57,900,738 (GRCm38) |
V85M |
probably damaging |
Het |
Vmn2r72 |
T |
A |
7: 85,751,942 (GRCm38) |
I90L |
probably damaging |
Het |
Wdr60 |
T |
C |
12: 116,218,113 (GRCm38) |
S769G |
probably damaging |
Het |
Zfp330 |
T |
C |
8: 82,764,956 (GRCm38) |
E196G |
probably benign |
Het |
Zfp746 |
A |
G |
6: 48,082,174 (GRCm38) |
V167A |
possibly damaging |
Het |
Zfp994 |
T |
C |
17: 22,201,713 (GRCm38) |
E85G |
possibly damaging |
Het |
|
Other mutations in Frmpd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Frmpd1
|
APN |
4 |
45,279,456 (GRCm38) |
missense |
possibly damaging |
0.61 |
IGL01678:Frmpd1
|
APN |
4 |
45,243,717 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01815:Frmpd1
|
APN |
4 |
45,284,239 (GRCm38) |
missense |
probably benign |
|
IGL02305:Frmpd1
|
APN |
4 |
45,249,209 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02347:Frmpd1
|
APN |
4 |
45,270,023 (GRCm38) |
splice site |
probably null |
|
IGL02586:Frmpd1
|
APN |
4 |
45,285,160 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02704:Frmpd1
|
APN |
4 |
45,285,082 (GRCm38) |
missense |
possibly damaging |
0.83 |
IGL02942:Frmpd1
|
APN |
4 |
45,285,493 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL03353:Frmpd1
|
APN |
4 |
45,261,926 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03355:Frmpd1
|
APN |
4 |
45,279,140 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03401:Frmpd1
|
APN |
4 |
45,284,383 (GRCm38) |
missense |
probably benign |
0.28 |
IGL03047:Frmpd1
|
UTSW |
4 |
45,283,993 (GRCm38) |
missense |
probably damaging |
1.00 |
R0094:Frmpd1
|
UTSW |
4 |
45,284,899 (GRCm38) |
nonsense |
probably null |
|
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm38) |
missense |
probably damaging |
0.99 |
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm38) |
missense |
probably damaging |
0.99 |
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm38) |
missense |
probably benign |
0.03 |
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm38) |
missense |
probably benign |
0.03 |
R0375:Frmpd1
|
UTSW |
4 |
45,284,196 (GRCm38) |
missense |
probably benign |
0.00 |
R0508:Frmpd1
|
UTSW |
4 |
45,284,938 (GRCm38) |
missense |
unknown |
|
R0524:Frmpd1
|
UTSW |
4 |
45,283,774 (GRCm38) |
missense |
probably benign |
0.00 |
R0524:Frmpd1
|
UTSW |
4 |
45,256,902 (GRCm38) |
missense |
probably damaging |
1.00 |
R0625:Frmpd1
|
UTSW |
4 |
45,284,055 (GRCm38) |
missense |
probably benign |
|
R0825:Frmpd1
|
UTSW |
4 |
45,285,394 (GRCm38) |
missense |
possibly damaging |
0.93 |
R0926:Frmpd1
|
UTSW |
4 |
45,268,497 (GRCm38) |
missense |
probably damaging |
1.00 |
R0975:Frmpd1
|
UTSW |
4 |
45,279,000 (GRCm38) |
missense |
probably benign |
0.01 |
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm38) |
missense |
probably damaging |
1.00 |
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm38) |
missense |
probably damaging |
1.00 |
R1573:Frmpd1
|
UTSW |
4 |
45,283,932 (GRCm38) |
missense |
probably benign |
0.01 |
R1938:Frmpd1
|
UTSW |
4 |
45,283,711 (GRCm38) |
missense |
probably damaging |
1.00 |
R2334:Frmpd1
|
UTSW |
4 |
45,285,408 (GRCm38) |
missense |
probably damaging |
0.97 |
R2413:Frmpd1
|
UTSW |
4 |
45,278,969 (GRCm38) |
missense |
probably benign |
0.02 |
R2760:Frmpd1
|
UTSW |
4 |
45,244,667 (GRCm38) |
missense |
possibly damaging |
0.77 |
R3856:Frmpd1
|
UTSW |
4 |
45,283,698 (GRCm38) |
missense |
probably damaging |
1.00 |
R3876:Frmpd1
|
UTSW |
4 |
45,284,093 (GRCm38) |
missense |
probably benign |
0.01 |
R4080:Frmpd1
|
UTSW |
4 |
45,284,382 (GRCm38) |
missense |
probably benign |
|
R4597:Frmpd1
|
UTSW |
4 |
45,274,441 (GRCm38) |
missense |
probably benign |
0.12 |
R4714:Frmpd1
|
UTSW |
4 |
45,284,785 (GRCm38) |
missense |
probably benign |
0.11 |
R4779:Frmpd1
|
UTSW |
4 |
45,229,865 (GRCm38) |
missense |
probably damaging |
1.00 |
R4957:Frmpd1
|
UTSW |
4 |
45,273,099 (GRCm38) |
missense |
probably damaging |
1.00 |
R5000:Frmpd1
|
UTSW |
4 |
45,261,931 (GRCm38) |
splice site |
probably null |
|
R5041:Frmpd1
|
UTSW |
4 |
45,278,878 (GRCm38) |
missense |
probably damaging |
1.00 |
R5228:Frmpd1
|
UTSW |
4 |
45,284,322 (GRCm38) |
missense |
probably damaging |
0.98 |
R5413:Frmpd1
|
UTSW |
4 |
45,249,196 (GRCm38) |
missense |
probably benign |
0.00 |
R6133:Frmpd1
|
UTSW |
4 |
45,284,915 (GRCm38) |
missense |
probably benign |
0.01 |
R6158:Frmpd1
|
UTSW |
4 |
45,285,401 (GRCm38) |
missense |
probably damaging |
1.00 |
R6329:Frmpd1
|
UTSW |
4 |
45,268,551 (GRCm38) |
missense |
possibly damaging |
0.80 |
R6338:Frmpd1
|
UTSW |
4 |
45,274,489 (GRCm38) |
missense |
probably benign |
0.00 |
R6544:Frmpd1
|
UTSW |
4 |
45,279,024 (GRCm38) |
missense |
probably damaging |
1.00 |
R6728:Frmpd1
|
UTSW |
4 |
45,284,664 (GRCm38) |
missense |
probably benign |
|
R6748:Frmpd1
|
UTSW |
4 |
45,274,397 (GRCm38) |
missense |
probably benign |
0.08 |
R6798:Frmpd1
|
UTSW |
4 |
45,284,850 (GRCm38) |
missense |
probably benign |
0.17 |
R6828:Frmpd1
|
UTSW |
4 |
45,275,383 (GRCm38) |
missense |
probably damaging |
0.99 |
R7002:Frmpd1
|
UTSW |
4 |
45,284,200 (GRCm38) |
missense |
probably benign |
|
R7258:Frmpd1
|
UTSW |
4 |
45,269,974 (GRCm38) |
missense |
possibly damaging |
0.79 |
R7295:Frmpd1
|
UTSW |
4 |
45,285,700 (GRCm38) |
missense |
probably damaging |
1.00 |
R7382:Frmpd1
|
UTSW |
4 |
45,278,880 (GRCm38) |
missense |
probably benign |
0.00 |
R7423:Frmpd1
|
UTSW |
4 |
45,256,948 (GRCm38) |
missense |
probably damaging |
1.00 |
R7451:Frmpd1
|
UTSW |
4 |
45,279,558 (GRCm38) |
missense |
probably benign |
0.11 |
R7492:Frmpd1
|
UTSW |
4 |
45,285,237 (GRCm38) |
missense |
possibly damaging |
0.71 |
R7524:Frmpd1
|
UTSW |
4 |
45,271,181 (GRCm38) |
missense |
probably benign |
0.16 |
R7610:Frmpd1
|
UTSW |
4 |
45,279,098 (GRCm38) |
missense |
probably damaging |
1.00 |
R7719:Frmpd1
|
UTSW |
4 |
45,284,841 (GRCm38) |
missense |
possibly damaging |
0.52 |
R7724:Frmpd1
|
UTSW |
4 |
45,229,888 (GRCm38) |
missense |
probably damaging |
1.00 |
R7891:Frmpd1
|
UTSW |
4 |
45,284,478 (GRCm38) |
missense |
probably benign |
0.06 |
R8010:Frmpd1
|
UTSW |
4 |
45,284,272 (GRCm38) |
missense |
possibly damaging |
0.51 |
R8260:Frmpd1
|
UTSW |
4 |
45,244,638 (GRCm38) |
missense |
probably damaging |
0.99 |
R8528:Frmpd1
|
UTSW |
4 |
45,285,034 (GRCm38) |
missense |
probably benign |
|
R8794:Frmpd1
|
UTSW |
4 |
45,279,632 (GRCm38) |
missense |
probably benign |
0.00 |
R8798:Frmpd1
|
UTSW |
4 |
45,285,424 (GRCm38) |
missense |
possibly damaging |
0.95 |
R8954:Frmpd1
|
UTSW |
4 |
45,284,702 (GRCm38) |
missense |
probably benign |
0.02 |
R9058:Frmpd1
|
UTSW |
4 |
45,283,948 (GRCm38) |
missense |
probably damaging |
1.00 |
R9178:Frmpd1
|
UTSW |
4 |
45,285,367 (GRCm38) |
missense |
probably damaging |
1.00 |
R9281:Frmpd1
|
UTSW |
4 |
45,284,127 (GRCm38) |
missense |
probably benign |
0.11 |
R9408:Frmpd1
|
UTSW |
4 |
45,279,182 (GRCm38) |
missense |
probably benign |
0.00 |
R9532:Frmpd1
|
UTSW |
4 |
45,278,886 (GRCm38) |
missense |
|
|
Z1088:Frmpd1
|
UTSW |
4 |
45,284,080 (GRCm38) |
missense |
possibly damaging |
0.93 |
Z1177:Frmpd1
|
UTSW |
4 |
45,275,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAGCCCAGCACTGAAAG -3'
(R):5'- TAGCTTCTCAGGTAGCACATTCTG -3'
Sequencing Primer
(F):5'- TGAAAGAAAAGGCTTCTCCTCAG -3'
(R):5'- GAGGCTAAGATCGTTTCC -3'
|
Posted On |
2016-10-24 |