Incidental Mutation 'R0066:Frmd4a'
| ID |
41035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd4a
|
| Ensembl Gene |
ENSMUSG00000026657 |
| Gene Name |
FERM domain containing 4A |
| Synonyms |
2700017I06Rik, C230040M21Rik, Gm13190 |
| MMRRC Submission |
038357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R0066 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
4022528-4618854 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4477963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 48
(L48P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075767]
[ENSMUST00000091497]
[ENSMUST00000115037]
[ENSMUST00000175669]
[ENSMUST00000175944]
[ENSMUST00000177457]
[ENSMUST00000176803]
|
| AlphaFold |
Q8BIE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075767
AA Change: L33P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: L33P
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
206 |
3.24e-40 |
SMART |
|
FERM_C
|
210 |
311 |
7.69e-27 |
SMART |
|
Pfam:DUF3338
|
340 |
477 |
1.9e-63 |
PFAM |
|
low complexity region
|
558 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
623 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
741 |
N/A |
INTRINSIC |
|
low complexity region
|
764 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
790 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
947 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091497
AA Change: L44P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: L44P
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
12 |
217 |
3.24e-40 |
SMART |
|
FERM_C
|
221 |
322 |
7.69e-27 |
SMART |
|
Pfam:DUF3338
|
352 |
487 |
6.3e-61 |
PFAM |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
752 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
958 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115037
AA Change: L33P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110689
Gene: ENSMUSG00000026657
AA Change: L33P
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
142 |
9.86e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147156
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175669
AA Change: L63P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135306
Gene: ENSMUSG00000026657
AA Change: L63P
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
31 |
236 |
3.24e-40 |
SMART |
|
FERM_C
|
240 |
341 |
7.69e-27 |
SMART |
|
low complexity region
|
371 |
387 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175944
AA Change: L81P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657
AA Change: L81P
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
49 |
254 |
3.24e-40 |
SMART |
|
FERM_C
|
258 |
359 |
7.69e-27 |
SMART |
|
Pfam:DUF3338
|
388 |
525 |
6.5e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177457
AA Change: L48P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: L48P
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
16 |
221 |
3.24e-40 |
SMART |
|
FERM_C
|
225 |
326 |
7.69e-27 |
SMART |
|
Pfam:DUF3338
|
355 |
492 |
3.9e-63 |
PFAM |
|
low complexity region
|
573 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
962 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176803
AA Change: L34P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135432
Gene: ENSMUSG00000026657
AA Change: L34P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FERM_N
|
10 |
89 |
5.5e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.9289 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| Validation Efficiency |
100% (107/107) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810064F22Rik |
A |
G |
9: 22,119,177 (GRCm39) |
|
noncoding transcript |
Het |
| 5530400C23Rik |
A |
T |
6: 133,269,287 (GRCm39) |
|
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,787,666 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
A |
T |
18: 38,129,760 (GRCm39) |
S134T |
probably benign |
Het |
| Arsa |
T |
A |
15: 89,358,539 (GRCm39) |
M288L |
possibly damaging |
Het |
| Atg2b |
A |
T |
12: 105,614,708 (GRCm39) |
D1074E |
probably benign |
Het |
| Baiap2l1 |
A |
T |
5: 144,221,372 (GRCm39) |
I174N |
probably damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,108,761 (GRCm39) |
N421Y |
possibly damaging |
Het |
| Btn2a2 |
T |
A |
13: 23,662,655 (GRCm39) |
I432L |
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,395,850 (GRCm39) |
I778V |
probably benign |
Het |
| Cd200r2 |
G |
A |
16: 44,730,037 (GRCm39) |
V194I |
possibly damaging |
Het |
| Cep350 |
A |
C |
1: 155,786,964 (GRCm39) |
L1421R |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,250,899 (GRCm39) |
A1633T |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,579,412 (GRCm39) |
C1938S |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,795,418 (GRCm39) |
D1051V |
probably damaging |
Het |
| Cstf1 |
T |
A |
2: 172,214,976 (GRCm39) |
N32K |
probably benign |
Het |
| Ctrb1 |
G |
A |
8: 112,413,269 (GRCm39) |
R248* |
probably null |
Het |
| Cyp2d11 |
T |
A |
15: 82,275,958 (GRCm39) |
M208L |
probably benign |
Het |
| Dbt |
A |
G |
3: 116,337,478 (GRCm39) |
Q334R |
probably benign |
Het |
| Dcaf12 |
A |
G |
4: 41,298,338 (GRCm39) |
V270A |
probably damaging |
Het |
| Dis3l |
T |
A |
9: 64,226,447 (GRCm39) |
N361I |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,840,140 (GRCm39) |
D1315V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,090,621 (GRCm39) |
F1080S |
probably benign |
Het |
| Dnm3 |
A |
G |
1: 162,234,930 (GRCm39) |
V70A |
probably damaging |
Het |
| Dpy19l1 |
A |
C |
9: 24,325,705 (GRCm39) |
M700R |
possibly damaging |
Het |
| Dpy19l2 |
G |
A |
9: 24,557,679 (GRCm39) |
|
probably benign |
Het |
| Dst |
C |
A |
1: 34,228,634 (GRCm39) |
H2254N |
possibly damaging |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,531 (GRCm39) |
N168S |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,927,631 (GRCm39) |
Y691C |
possibly damaging |
Het |
| Fndc8 |
A |
T |
11: 82,788,398 (GRCm39) |
D76V |
probably benign |
Het |
| Gimap6 |
T |
A |
6: 48,679,404 (GRCm39) |
I211F |
probably damaging |
Het |
| Gm15130 |
A |
G |
2: 110,969,284 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
T |
A |
5: 105,438,766 (GRCm39) |
I41F |
probably damaging |
Het |
| Gm5698 |
C |
T |
1: 31,016,614 (GRCm39) |
V146I |
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 34,986,652 (GRCm39) |
S768L |
probably damaging |
Het |
| Grb14 |
T |
G |
2: 64,768,836 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
T |
C |
5: 100,112,560 (GRCm39) |
E222G |
probably damaging |
Het |
| Il4ra |
C |
T |
7: 125,175,403 (GRCm39) |
P537L |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 34,024,327 (GRCm39) |
D610G |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,626 (GRCm39) |
H26R |
probably benign |
Het |
| Kctd2 |
T |
G |
11: 115,320,343 (GRCm39) |
|
probably benign |
Het |
| Khdrbs3 |
T |
A |
15: 68,866,886 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,325,943 (GRCm39) |
Q3066* |
probably null |
Het |
| Mfn2 |
G |
A |
4: 147,969,902 (GRCm39) |
|
probably benign |
Het |
| Mmab |
T |
C |
5: 114,574,526 (GRCm39) |
|
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,266,011 (GRCm39) |
S310P |
probably benign |
Het |
| Mrps21 |
T |
C |
3: 95,770,197 (GRCm39) |
Y44C |
probably null |
Het |
| Myh10 |
T |
A |
11: 68,590,317 (GRCm39) |
F121Y |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,820,677 (GRCm39) |
D840G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,196,542 (GRCm39) |
D553V |
probably damaging |
Het |
| Nol6 |
G |
T |
4: 41,119,572 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
G |
T |
4: 43,632,329 (GRCm39) |
V49L |
probably benign |
Het |
| Ntsr2 |
T |
C |
12: 16,704,120 (GRCm39) |
I207T |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,438,484 (GRCm39) |
S1552T |
probably benign |
Het |
| Oas3 |
T |
A |
5: 120,896,940 (GRCm39) |
I894F |
probably damaging |
Het |
| Oprd1 |
A |
G |
4: 131,841,299 (GRCm39) |
F220L |
probably benign |
Het |
| Or11j4 |
T |
A |
14: 50,630,659 (GRCm39) |
F149I |
probably benign |
Het |
| Or2aj4 |
T |
A |
16: 19,384,799 (GRCm39) |
Y278F |
probably damaging |
Het |
| Or2r2 |
A |
T |
6: 42,463,869 (GRCm39) |
M86K |
probably benign |
Het |
| Or8b57 |
T |
C |
9: 40,003,983 (GRCm39) |
N93S |
possibly damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,347,103 (GRCm39) |
G159C |
unknown |
Het |
| Plcb4 |
T |
C |
2: 135,803,689 (GRCm39) |
S521P |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,752,634 (GRCm39) |
I993F |
probably damaging |
Het |
| Plcxd1 |
T |
A |
5: 110,249,368 (GRCm39) |
V65E |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,756,743 (GRCm39) |
S640G |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 117,240,222 (GRCm39) |
N993T |
probably benign |
Het |
| Rabepk |
T |
C |
2: 34,685,318 (GRCm39) |
D26G |
possibly damaging |
Het |
| Reck |
A |
G |
4: 43,930,936 (GRCm39) |
N646D |
probably damaging |
Het |
| Rfx2 |
A |
T |
17: 57,093,736 (GRCm39) |
|
probably benign |
Het |
| Ripk2 |
G |
A |
4: 16,123,868 (GRCm39) |
Q436* |
probably null |
Het |
| Ryr1 |
C |
T |
7: 28,704,992 (GRCm39) |
|
probably benign |
Het |
| Sema6b |
A |
G |
17: 56,435,271 (GRCm39) |
V324A |
possibly damaging |
Het |
| Sik2 |
C |
A |
9: 50,909,833 (GRCm39) |
M73I |
probably benign |
Het |
| Slc39a6 |
T |
C |
18: 24,732,326 (GRCm39) |
K321E |
probably damaging |
Het |
| Slc7a4 |
C |
A |
16: 17,391,875 (GRCm39) |
V520F |
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Spink14 |
T |
C |
18: 44,161,830 (GRCm39) |
V2A |
probably benign |
Het |
| Sptan1 |
C |
A |
2: 29,893,679 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,879,027 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
C |
T |
7: 44,493,495 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,394,590 (GRCm39) |
L49* |
probably null |
Het |
| Tmco6 |
A |
G |
18: 36,875,160 (GRCm39) |
T477A |
probably benign |
Het |
| Tmem208 |
C |
T |
8: 106,054,857 (GRCm39) |
A53V |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,020,908 (GRCm39) |
T837A |
possibly damaging |
Het |
| Tulp4 |
A |
T |
17: 6,252,008 (GRCm39) |
N60I |
probably damaging |
Het |
| Ubqlnl |
A |
T |
7: 103,798,145 (GRCm39) |
W451R |
probably damaging |
Het |
| Usp53 |
G |
T |
3: 122,746,956 (GRCm39) |
C363* |
probably null |
Het |
| Usp7 |
A |
T |
16: 8,509,282 (GRCm39) |
H1017Q |
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,649,530 (GRCm39) |
T660A |
possibly damaging |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,641 (GRCm39) |
Y86F |
probably benign |
Het |
| Vmn1r195 |
A |
T |
13: 22,463,409 (GRCm39) |
H293L |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,109,998 (GRCm39) |
R306G |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,576,514 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,449,964 (GRCm39) |
V70A |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,770 (GRCm39) |
D189G |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,296,273 (GRCm39) |
E515G |
possibly damaging |
Het |
| Wdr18 |
C |
A |
10: 79,796,937 (GRCm39) |
Y104* |
probably null |
Het |
| Wnk4 |
A |
T |
11: 101,156,261 (GRCm39) |
D43V |
probably damaging |
Het |
| Xab2 |
A |
T |
8: 3,663,880 (GRCm39) |
N346K |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,342,484 (GRCm39) |
V1575A |
possibly damaging |
Het |
| Zdhhc12 |
C |
T |
2: 29,982,547 (GRCm39) |
R50H |
probably damaging |
Het |
| Zdhhc8 |
A |
G |
16: 18,043,064 (GRCm39) |
S379P |
probably benign |
Het |
| Zfp458 |
G |
A |
13: 67,407,673 (GRCm39) |
Q58* |
probably null |
Het |
| Zfp747 |
A |
T |
7: 126,973,772 (GRCm39) |
S133T |
probably benign |
Het |
|
| Other mutations in Frmd4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Frmd4a
|
APN |
2 |
4,599,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00508:Frmd4a
|
APN |
2 |
4,599,545 (GRCm39) |
nonsense |
probably null |
|
|
IGL01331:Frmd4a
|
APN |
2 |
4,607,036 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01774:Frmd4a
|
APN |
2 |
4,540,047 (GRCm39) |
splice site |
probably benign |
|
|
IGL01909:Frmd4a
|
APN |
2 |
4,608,844 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02170:Frmd4a
|
APN |
2 |
4,570,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02269:Frmd4a
|
APN |
2 |
4,609,045 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02377:Frmd4a
|
APN |
2 |
4,539,385 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03308:Frmd4a
|
APN |
2 |
4,502,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0066:Frmd4a
|
UTSW |
2 |
4,477,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Frmd4a
|
UTSW |
2 |
4,577,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0128:Frmd4a
|
UTSW |
2 |
4,608,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0130:Frmd4a
|
UTSW |
2 |
4,608,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0376:Frmd4a
|
UTSW |
2 |
4,577,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0529:Frmd4a
|
UTSW |
2 |
4,610,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0549:Frmd4a
|
UTSW |
2 |
4,608,778 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1593:Frmd4a
|
UTSW |
2 |
4,477,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Frmd4a
|
UTSW |
2 |
4,539,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2002:Frmd4a
|
UTSW |
2 |
4,577,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2100:Frmd4a
|
UTSW |
2 |
4,610,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2310:Frmd4a
|
UTSW |
2 |
4,577,210 (GRCm39) |
frame shift |
probably null |
|
|
R2340:Frmd4a
|
UTSW |
2 |
4,591,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Frmd4a
|
UTSW |
2 |
4,534,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Frmd4a
|
UTSW |
2 |
4,539,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Frmd4a
|
UTSW |
2 |
4,157,839 (GRCm39) |
intron |
probably benign |
|
|
R3772:Frmd4a
|
UTSW |
2 |
4,595,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3773:Frmd4a
|
UTSW |
2 |
4,595,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3932:Frmd4a
|
UTSW |
2 |
4,542,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Frmd4a
|
UTSW |
2 |
4,615,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4226:Frmd4a
|
UTSW |
2 |
4,337,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4299:Frmd4a
|
UTSW |
2 |
4,337,882 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4304:Frmd4a
|
UTSW |
2 |
4,337,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4306:Frmd4a
|
UTSW |
2 |
4,337,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4307:Frmd4a
|
UTSW |
2 |
4,337,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4346:Frmd4a
|
UTSW |
2 |
4,612,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4360:Frmd4a
|
UTSW |
2 |
4,606,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Frmd4a
|
UTSW |
2 |
4,599,374 (GRCm39) |
nonsense |
probably null |
|
|
R4547:Frmd4a
|
UTSW |
2 |
4,477,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Frmd4a
|
UTSW |
2 |
4,608,490 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4577:Frmd4a
|
UTSW |
2 |
4,608,490 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4578:Frmd4a
|
UTSW |
2 |
4,608,490 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4688:Frmd4a
|
UTSW |
2 |
4,542,122 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4764:Frmd4a
|
UTSW |
2 |
4,608,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4826:Frmd4a
|
UTSW |
2 |
4,606,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Frmd4a
|
UTSW |
2 |
4,534,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Frmd4a
|
UTSW |
2 |
4,608,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5392:Frmd4a
|
UTSW |
2 |
4,599,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5733:Frmd4a
|
UTSW |
2 |
4,305,768 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5762:Frmd4a
|
UTSW |
2 |
4,488,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Frmd4a
|
UTSW |
2 |
4,337,927 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5932:Frmd4a
|
UTSW |
2 |
4,534,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Frmd4a
|
UTSW |
2 |
4,607,060 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6328:Frmd4a
|
UTSW |
2 |
4,595,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6622:Frmd4a
|
UTSW |
2 |
4,610,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6903:Frmd4a
|
UTSW |
2 |
4,591,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Frmd4a
|
UTSW |
2 |
4,570,923 (GRCm39) |
|
|
|
|
R7098:Frmd4a
|
UTSW |
2 |
4,577,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Frmd4a
|
UTSW |
2 |
4,305,764 (GRCm39) |
missense |
probably benign |
|
|
R7336:Frmd4a
|
UTSW |
2 |
4,478,025 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7582:Frmd4a
|
UTSW |
2 |
4,599,408 (GRCm39) |
frame shift |
probably null |
|
|
R7607:Frmd4a
|
UTSW |
2 |
4,596,747 (GRCm39) |
nonsense |
probably null |
|
|
R7697:Frmd4a
|
UTSW |
2 |
4,488,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Frmd4a
|
UTSW |
2 |
4,606,160 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7795:Frmd4a
|
UTSW |
2 |
4,595,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7848:Frmd4a
|
UTSW |
2 |
4,596,728 (GRCm39) |
intron |
probably benign |
|
|
R7899:Frmd4a
|
UTSW |
2 |
4,608,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Frmd4a
|
UTSW |
2 |
4,608,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8399:Frmd4a
|
UTSW |
2 |
4,577,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8778:Frmd4a
|
UTSW |
2 |
4,478,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Frmd4a
|
UTSW |
2 |
4,606,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9074:Frmd4a
|
UTSW |
2 |
4,608,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Frmd4a
|
UTSW |
2 |
4,608,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Frmd4a
|
UTSW |
2 |
4,608,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9105:Frmd4a
|
UTSW |
2 |
4,539,994 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9213:Frmd4a
|
UTSW |
2 |
4,608,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Frmd4a
|
UTSW |
2 |
4,612,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9230:Frmd4a
|
UTSW |
2 |
4,612,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9235:Frmd4a
|
UTSW |
2 |
4,599,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9266:Frmd4a
|
UTSW |
2 |
4,610,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9301:Frmd4a
|
UTSW |
2 |
4,157,904 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9307:Frmd4a
|
UTSW |
2 |
4,609,044 (GRCm39) |
missense |
probably benign |
|
|
R9365:Frmd4a
|
UTSW |
2 |
4,606,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9476:Frmd4a
|
UTSW |
2 |
4,608,324 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9484:Frmd4a
|
UTSW |
2 |
4,609,026 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9510:Frmd4a
|
UTSW |
2 |
4,608,324 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9513:Frmd4a
|
UTSW |
2 |
4,608,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Frmd4a
|
UTSW |
2 |
4,502,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGCTGCCAAGACTTCCCAC -3'
(R):5'- GATGGTGAACTTGGACTGACCCTG -3'
Sequencing Primer
(F):5'- tgaactcctgctcctcctg -3'
(R):5'- TTGGACTGACCCTGTAGCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation