Incidental Mutation 'R6329:Frmpd1'
| ID |
509380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd1
|
| Ensembl Gene |
ENSMUSG00000035615 |
| Gene Name |
FERM and PDZ domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
044483-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6329 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45268551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 232
(I232T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
| AlphaFold |
A2AKB4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044773
AA Change: I232T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: I232T
| 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: I232T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: I232T
| 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: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,879,457 (GRCm39) |
H72R |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,227,937 (GRCm39) |
N660I |
probably damaging |
Het |
| Actr8 |
C |
T |
14: 29,715,041 (GRCm39) |
R619* |
probably null |
Het |
| Adam18 |
C |
A |
8: 25,104,843 (GRCm39) |
G657V |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,510,227 (GRCm39) |
E85G |
probably benign |
Het |
| Akr1c14 |
A |
G |
13: 4,137,302 (GRCm39) |
Y305C |
probably damaging |
Het |
| Ankdd1b |
T |
A |
13: 96,591,388 (GRCm39) |
H37L |
possibly damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,903,636 (GRCm39) |
L846P |
probably benign |
Het |
| Aqp9 |
A |
T |
9: 71,039,966 (GRCm39) |
Y105* |
probably null |
Het |
| Arid1b |
C |
T |
17: 5,387,538 (GRCm39) |
Q1664* |
probably null |
Het |
| Aup1 |
A |
G |
6: 83,031,588 (GRCm39) |
|
probably benign |
Het |
| Bnip1 |
C |
A |
17: 27,005,684 (GRCm39) |
S64* |
probably null |
Het |
| Calcr |
T |
A |
6: 3,687,621 (GRCm39) |
Q422L |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,539,147 (GRCm39) |
D407V |
possibly damaging |
Het |
| Ccdc66 |
G |
T |
14: 27,208,441 (GRCm39) |
S760R |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,577,193 (GRCm39) |
E38V |
probably damaging |
Het |
| Cggbp1 |
T |
C |
16: 64,676,383 (GRCm39) |
Y150H |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,252,510 (GRCm39) |
K263R |
possibly damaging |
Het |
| Col4a2 |
T |
A |
8: 11,496,238 (GRCm39) |
F1620I |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,435,662 (GRCm39) |
T858A |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,580,273 (GRCm39) |
D1554V |
probably damaging |
Het |
| Dnajc25 |
A |
T |
4: 59,013,678 (GRCm39) |
Q132L |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Ehbp1l1 |
A |
C |
19: 5,768,795 (GRCm39) |
I836S |
possibly damaging |
Het |
| Elf1 |
A |
G |
14: 79,810,779 (GRCm39) |
Q288R |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,150,393 (GRCm39) |
V2608L |
possibly damaging |
Het |
| Fuca1 |
T |
A |
4: 135,662,137 (GRCm39) |
I355N |
probably damaging |
Het |
| Gcnt4 |
A |
G |
13: 97,083,781 (GRCm39) |
D359G |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,790,494 (GRCm39) |
M30T |
possibly damaging |
Het |
| Grk1 |
T |
G |
8: 13,455,704 (GRCm39) |
L196R |
probably damaging |
Het |
| Igkv14-126 |
A |
C |
6: 67,873,548 (GRCm39) |
D92A |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,520,600 (GRCm39) |
S1837P |
probably benign |
Het |
| Lhx4 |
T |
A |
1: 155,578,300 (GRCm39) |
T281S |
probably benign |
Het |
| Lrrc55 |
G |
T |
2: 85,026,653 (GRCm39) |
H124N |
probably benign |
Het |
| Marchf8 |
T |
A |
6: 116,383,277 (GRCm39) |
I566N |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,288 (GRCm39) |
A3091V |
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,458,847 (GRCm39) |
N355S |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,920,411 (GRCm39) |
V278A |
probably benign |
Het |
| Nod1 |
T |
C |
6: 54,921,689 (GRCm39) |
M210V |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,422,138 (GRCm39) |
C63* |
probably null |
Het |
| Or1e1f |
A |
G |
11: 73,855,568 (GRCm39) |
I45V |
possibly damaging |
Het |
| Or1j17 |
A |
T |
2: 36,578,694 (GRCm39) |
K227* |
probably null |
Het |
| Or4g7 |
C |
T |
2: 111,309,573 (GRCm39) |
A148V |
possibly damaging |
Het |
| Or5d37 |
G |
A |
2: 87,924,008 (GRCm39) |
P91S |
probably damaging |
Het |
| Or7g21 |
A |
C |
9: 19,032,253 (GRCm39) |
M1L |
probably benign |
Het |
| Or8b37 |
T |
C |
9: 37,959,121 (GRCm39) |
V201A |
probably benign |
Het |
| Or8g24 |
C |
T |
9: 38,989,199 (GRCm39) |
V281I |
probably benign |
Het |
| Osbp2 |
T |
A |
11: 3,665,153 (GRCm39) |
S517C |
probably damaging |
Het |
| Pcdha1 |
C |
T |
18: 37,065,301 (GRCm39) |
P655L |
probably damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
| Perp |
G |
A |
10: 18,731,502 (GRCm39) |
G154S |
probably damaging |
Het |
| Perp |
G |
T |
10: 18,731,503 (GRCm39) |
G154V |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,850 (GRCm39) |
T340A |
probably damaging |
Het |
| Prokr1 |
T |
G |
6: 87,558,774 (GRCm39) |
T204P |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,739,890 (GRCm39) |
C630S |
probably damaging |
Het |
| Pter |
C |
A |
2: 12,985,359 (GRCm39) |
H230N |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,724,427 (GRCm39) |
Y1167* |
probably null |
Het |
| Rad54l2 |
T |
C |
9: 106,595,121 (GRCm39) |
I279V |
possibly damaging |
Het |
| Rora |
T |
A |
9: 69,280,468 (GRCm39) |
L347Q |
probably damaging |
Het |
| Runx1t1 |
T |
G |
4: 13,785,136 (GRCm39) |
M1R |
probably null |
Het |
| Sdcbp |
A |
G |
4: 6,381,064 (GRCm39) |
S70G |
probably benign |
Het |
| Serpinb12 |
A |
G |
1: 106,881,493 (GRCm39) |
Y210C |
probably damaging |
Het |
| Sipa1 |
T |
C |
19: 5,701,517 (GRCm39) |
E1015G |
probably damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,572,144 (GRCm39) |
L740R |
possibly damaging |
Het |
| Specc1 |
A |
G |
11: 62,047,379 (GRCm39) |
E916G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,041,743 (GRCm39) |
I1371T |
possibly damaging |
Het |
| Tagln3 |
T |
C |
16: 45,533,365 (GRCm39) |
M130V |
probably benign |
Het |
| Tchh |
A |
T |
3: 93,353,752 (GRCm39) |
E1064V |
unknown |
Het |
| Tdp1 |
A |
T |
12: 99,880,330 (GRCm39) |
S464C |
probably damaging |
Het |
| Tdp1 |
G |
C |
12: 99,880,331 (GRCm39) |
S464T |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,884 (GRCm39) |
Y1374C |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,402,833 (GRCm39) |
Y455* |
probably null |
Het |
| Ttc5 |
A |
G |
14: 51,003,385 (GRCm39) |
V433A |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,240,449 (GRCm39) |
R180* |
probably null |
Het |
| Zfp53 |
A |
G |
17: 21,728,372 (GRCm39) |
D135G |
probably benign |
Het |
| Zfp619 |
T |
A |
7: 39,186,969 (GRCm39) |
C1000S |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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 |
|
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'- CCGTAAAAGGTCCAGCATGG -3'
(R):5'- ACGGGCATCTTGGACTATGC -3'
Sequencing Primer
(F):5'- CCTGCCTGTGTTAGCAGAG -3'
(R):5'- TGCCCTGCATGCCTCATAGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation