Incidental Mutation 'R6158:Frmpd1'
| ID |
489689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd1
|
| Ensembl Gene |
ENSMUSG00000035615 |
| Gene Name |
FERM and PDZ domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
044305-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6158 (G1)
|
| Quality Score |
156.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45285401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1407
(L1407F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
| AlphaFold |
A2AKB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044773
AA Change: L1407F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: L1407F
| 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: L1407F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: L1407F
| 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 |
0.0803 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.5%
- 20x: 92.6%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,217,410 (GRCm39) |
V793A |
possibly damaging |
Het |
| 2900092C05Rik |
A |
G |
7: 12,246,599 (GRCm39) |
T32A |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,274,977 (GRCm39) |
V594M |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,496,220 (GRCm39) |
Y845N |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,040,778 (GRCm39) |
I575L |
probably benign |
Het |
| Aurka |
A |
C |
2: 172,205,516 (GRCm39) |
|
probably null |
Het |
| C1qtnf5 |
A |
T |
9: 44,020,267 (GRCm39) |
|
probably benign |
Het |
| Cacnb2 |
A |
G |
2: 14,990,412 (GRCm39) |
D454G |
possibly damaging |
Het |
| Chchd5 |
T |
C |
2: 128,972,437 (GRCm39) |
L87P |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,793,671 (GRCm39) |
R1377L |
unknown |
Het |
| Cpne8 |
A |
C |
15: 90,456,191 (GRCm39) |
S191A |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,916,098 (GRCm39) |
I671N |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,495,642 (GRCm39) |
K1423N |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,148,556 (GRCm39) |
M272V |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,411 (GRCm39) |
S3688C |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,378,037 (GRCm39) |
S410P |
probably damaging |
Het |
| Gm11565 |
T |
A |
11: 99,805,744 (GRCm39) |
C45* |
probably null |
Het |
| Gngt1 |
A |
T |
6: 3,994,311 (GRCm39) |
R30* |
probably null |
Het |
| Htt |
T |
C |
5: 35,064,430 (GRCm39) |
I2943T |
possibly damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,137,573 (GRCm39) |
D247E |
probably benign |
Het |
| Mastl |
G |
T |
2: 23,022,784 (GRCm39) |
N646K |
possibly damaging |
Het |
| Mei4 |
G |
T |
9: 81,809,629 (GRCm39) |
L237F |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,969,430 (GRCm39) |
P170S |
possibly damaging |
Het |
| Mgam |
T |
A |
6: 40,734,648 (GRCm39) |
I896K |
probably damaging |
Het |
| Mix23 |
T |
A |
16: 35,910,299 (GRCm39) |
V118D |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,160,675 (GRCm39) |
C443S |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 113,022,038 (GRCm39) |
N451K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,121,602 (GRCm39) |
I768V |
probably benign |
Het |
| Nos1 |
A |
C |
5: 118,005,639 (GRCm39) |
I120L |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or1j15 |
A |
T |
2: 36,459,128 (GRCm39) |
T173S |
probably benign |
Het |
| Or2aj5 |
C |
A |
16: 19,424,675 (GRCm39) |
V248F |
probably damaging |
Het |
| Or4c11c |
T |
C |
2: 88,661,490 (GRCm39) |
F10L |
probably damaging |
Het |
| Or5t15 |
A |
G |
2: 86,681,859 (GRCm39) |
L61P |
possibly damaging |
Het |
| Or8g50 |
C |
T |
9: 39,648,372 (GRCm39) |
T87I |
probably benign |
Het |
| Pdzph1 |
T |
G |
17: 59,280,622 (GRCm39) |
Q553H |
probably damaging |
Het |
| Piwil1 |
T |
A |
5: 128,824,940 (GRCm39) |
L546* |
probably null |
Het |
| Pla2g4f |
T |
C |
2: 120,131,552 (GRCm39) |
T724A |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,266,596 (GRCm39) |
M660K |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,679,767 (GRCm39) |
D103G |
possibly damaging |
Het |
| Rnf186 |
A |
G |
4: 138,694,565 (GRCm39) |
D35G |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,004,919 (GRCm39) |
D424G |
probably benign |
Het |
| Scg2 |
A |
T |
1: 79,413,117 (GRCm39) |
D495E |
probably damaging |
Het |
| Slc39a2 |
G |
A |
14: 52,131,681 (GRCm39) |
|
probably null |
Het |
| Snrnp48 |
T |
A |
13: 38,394,212 (GRCm39) |
Y100* |
probably null |
Het |
| Spaca1 |
A |
G |
4: 34,029,176 (GRCm39) |
M99T |
probably damaging |
Het |
| Specc1 |
T |
G |
11: 62,008,950 (GRCm39) |
F235L |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,283,802 (GRCm39) |
|
probably null |
Het |
| Swap70 |
T |
A |
7: 109,869,230 (GRCm39) |
M341K |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,036,487 (GRCm39) |
D67G |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,805,652 (GRCm39) |
I251F |
probably benign |
Het |
| Tmem87a |
A |
T |
2: 120,190,584 (GRCm39) |
|
probably null |
Het |
| Tom1l2 |
C |
T |
11: 60,123,753 (GRCm39) |
D128N |
probably damaging |
Het |
| Tpx2 |
C |
A |
2: 152,715,024 (GRCm39) |
H82N |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,738,733 (GRCm39) |
C738S |
possibly damaging |
Het |
| Ttyh1 |
A |
G |
7: 4,128,561 (GRCm39) |
T153A |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,566,566 (GRCm39) |
G1199S |
probably benign |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,274 (GRCm39) |
N108K |
probably benign |
Het |
| Vmn2r63 |
T |
A |
7: 42,583,104 (GRCm39) |
D37V |
probably damaging |
Het |
| Vwce |
C |
T |
19: 10,621,585 (GRCm39) |
R206C |
possibly damaging |
Het |
| Wrn |
G |
T |
8: 33,809,200 (GRCm39) |
F265L |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,363 (GRCm39) |
C479* |
probably null |
Het |
| Zfp831 |
A |
T |
2: 174,485,651 (GRCm39) |
T109S |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 166,898,646 (GRCm39) |
Q93K |
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 |
|
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'- TCTGCAGGAAGCCAAGTGAC -3'
(R):5'- CAGTCTGTGAACTGGAAGCAG -3'
Sequencing Primer
(F):5'- AGGAAGCCAAGTGACCCTGC -3'
(R):5'- CAGGTGCTGGAAAGTGACCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation