Incidental Mutation 'IGL03260:Frmd4b'
ID |
414783 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Frmd4b
|
Ensembl Gene |
ENSMUSG00000030064 |
Gene Name |
FERM domain containing 4B |
Synonyms |
GRSP1, 6030440G05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03260
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
97263828-97594502 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97373185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 103
(F103Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032146]
[ENSMUST00000113355]
[ENSMUST00000113359]
[ENSMUST00000124050]
|
AlphaFold |
Q920B0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032146
AA Change: F157Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000032146 Gene: ENSMUSG00000030064 AA Change: F157Y
Domain | Start | End | E-Value | Type |
B41
|
55 |
260 |
7.4e-35 |
SMART |
FERM_C
|
264 |
365 |
8.7e-26 |
SMART |
Pfam:DUF3338
|
395 |
529 |
4.5e-55 |
PFAM |
coiled coil region
|
534 |
558 |
N/A |
INTRINSIC |
low complexity region
|
571 |
592 |
N/A |
INTRINSIC |
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
low complexity region
|
941 |
958 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113353
|
SMART Domains |
Protein: ENSMUSP00000108980 Gene: ENSMUSG00000030064
Domain | Start | End | E-Value | Type |
B41
|
55 |
260 |
7.4e-35 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113355
AA Change: F103Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108982 Gene: ENSMUSG00000030064 AA Change: F103Y
Domain | Start | End | E-Value | Type |
B41
|
1 |
206 |
4.5e-37 |
SMART |
FERM_C
|
210 |
311 |
4.1e-30 |
SMART |
Pfam:DUF3338
|
340 |
476 |
6.9e-58 |
PFAM |
coiled coil region
|
480 |
504 |
N/A |
INTRINSIC |
low complexity region
|
517 |
538 |
N/A |
INTRINSIC |
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
low complexity region
|
887 |
904 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113359
AA Change: F111Y
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108986 Gene: ENSMUSG00000030064 AA Change: F111Y
Domain | Start | End | E-Value | Type |
B41
|
9 |
214 |
7.4e-35 |
SMART |
FERM_C
|
218 |
319 |
8.7e-26 |
SMART |
Pfam:DUF3338
|
348 |
484 |
8e-61 |
PFAM |
coiled coil region
|
488 |
512 |
N/A |
INTRINSIC |
low complexity region
|
525 |
546 |
N/A |
INTRINSIC |
low complexity region
|
685 |
696 |
N/A |
INTRINSIC |
low complexity region
|
895 |
912 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124050
|
SMART Domains |
Protein: ENSMUSP00000145240 Gene: ENSMUSG00000030064
Domain | Start | End | E-Value | Type |
Pfam:FERM_N
|
9 |
71 |
3.2e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126899
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152385
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
All alleles(24) : Targeted(2) Gene trapped(22)
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933406P04Rik |
A |
G |
10: 20,187,071 (GRCm39) |
|
probably benign |
Het |
Abca12 |
A |
G |
1: 71,323,258 (GRCm39) |
L1608P |
probably damaging |
Het |
Akr1b8 |
G |
T |
6: 34,340,394 (GRCm39) |
|
probably benign |
Het |
Appbp2 |
A |
G |
11: 85,107,283 (GRCm39) |
V69A |
probably benign |
Het |
Ces1e |
T |
C |
8: 93,950,545 (GRCm39) |
N79D |
probably benign |
Het |
Cldn34b3 |
A |
G |
X: 75,310,479 (GRCm39) |
T16A |
probably damaging |
Het |
Ifi47 |
T |
C |
11: 48,986,932 (GRCm39) |
F233S |
probably damaging |
Het |
Igkv8-30 |
A |
T |
6: 70,094,339 (GRCm39) |
M24K |
probably damaging |
Het |
Krt72 |
C |
T |
15: 101,686,708 (GRCm39) |
A413T |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,250 (GRCm39) |
T63A |
probably benign |
Het |
Naa35 |
T |
G |
13: 59,775,699 (GRCm39) |
S125A |
probably benign |
Het |
Or6c76 |
T |
C |
10: 129,612,521 (GRCm39) |
V261A |
probably damaging |
Het |
Or6z7 |
A |
T |
7: 6,483,658 (GRCm39) |
C166S |
probably damaging |
Het |
Padi1 |
T |
C |
4: 140,555,505 (GRCm39) |
H240R |
probably benign |
Het |
Ppp1r12a |
A |
G |
10: 108,097,106 (GRCm39) |
T240A |
probably benign |
Het |
Ppp2ca |
A |
G |
11: 52,003,975 (GRCm39) |
N44S |
probably damaging |
Het |
Prg4 |
T |
A |
1: 150,331,378 (GRCm39) |
|
probably benign |
Het |
Rab33a |
A |
G |
X: 47,608,545 (GRCm39) |
E23G |
probably benign |
Het |
Scarb2 |
G |
T |
5: 92,594,296 (GRCm39) |
A422E |
probably damaging |
Het |
Scn4b |
A |
T |
9: 45,058,987 (GRCm39) |
N86I |
probably damaging |
Het |
Serpina1d |
G |
A |
12: 103,730,108 (GRCm39) |
T358I |
probably damaging |
Het |
Slc12a3 |
T |
A |
8: 95,059,870 (GRCm39) |
I172N |
probably damaging |
Het |
Slc18a1 |
T |
C |
8: 69,527,766 (GRCm39) |
E15G |
probably benign |
Het |
Snx7 |
A |
G |
3: 117,575,942 (GRCm39) |
|
probably benign |
Het |
Srpx |
T |
A |
X: 9,921,987 (GRCm39) |
K216* |
probably null |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,838,626 (GRCm39) |
S742P |
probably benign |
Het |
Vmn2r104 |
C |
T |
17: 20,263,083 (GRCm39) |
C126Y |
probably benign |
Het |
Vmn2r63 |
A |
T |
7: 42,578,616 (GRCm39) |
N92K |
probably damaging |
Het |
|
Other mutations in Frmd4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00849:Frmd4b
|
APN |
6 |
97,285,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01478:Frmd4b
|
APN |
6 |
97,305,254 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01760:Frmd4b
|
APN |
6 |
97,285,663 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01777:Frmd4b
|
APN |
6 |
97,272,905 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01960:Frmd4b
|
APN |
6 |
97,272,741 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02408:Frmd4b
|
APN |
6 |
97,272,770 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02429:Frmd4b
|
APN |
6 |
97,302,390 (GRCm39) |
splice site |
probably benign |
|
IGL02525:Frmd4b
|
APN |
6 |
97,389,494 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02618:Frmd4b
|
APN |
6 |
97,285,066 (GRCm39) |
nonsense |
probably null |
|
IGL03051:Frmd4b
|
APN |
6 |
97,272,943 (GRCm39) |
nonsense |
probably null |
|
IGL03120:Frmd4b
|
APN |
6 |
97,373,206 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03218:Frmd4b
|
APN |
6 |
97,285,075 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02984:Frmd4b
|
UTSW |
6 |
97,273,221 (GRCm39) |
missense |
probably damaging |
0.96 |
P0031:Frmd4b
|
UTSW |
6 |
97,330,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Frmd4b
|
UTSW |
6 |
97,300,610 (GRCm39) |
splice site |
probably benign |
|
R0055:Frmd4b
|
UTSW |
6 |
97,300,610 (GRCm39) |
splice site |
probably benign |
|
R0058:Frmd4b
|
UTSW |
6 |
97,400,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R0255:Frmd4b
|
UTSW |
6 |
97,285,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R0437:Frmd4b
|
UTSW |
6 |
97,400,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Frmd4b
|
UTSW |
6 |
97,302,387 (GRCm39) |
splice site |
probably benign |
|
R1525:Frmd4b
|
UTSW |
6 |
97,273,347 (GRCm39) |
missense |
probably damaging |
0.97 |
R1640:Frmd4b
|
UTSW |
6 |
97,285,634 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1768:Frmd4b
|
UTSW |
6 |
97,283,725 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1923:Frmd4b
|
UTSW |
6 |
97,265,415 (GRCm39) |
missense |
probably benign |
0.33 |
R2056:Frmd4b
|
UTSW |
6 |
97,389,448 (GRCm39) |
critical splice donor site |
probably null |
|
R2192:Frmd4b
|
UTSW |
6 |
97,464,577 (GRCm39) |
missense |
probably damaging |
0.98 |
R3809:Frmd4b
|
UTSW |
6 |
97,300,690 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3831:Frmd4b
|
UTSW |
6 |
97,389,486 (GRCm39) |
nonsense |
probably null |
|
R4466:Frmd4b
|
UTSW |
6 |
97,300,614 (GRCm39) |
critical splice donor site |
probably null |
|
R4536:Frmd4b
|
UTSW |
6 |
97,287,693 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4652:Frmd4b
|
UTSW |
6 |
97,272,716 (GRCm39) |
missense |
probably benign |
0.38 |
R4679:Frmd4b
|
UTSW |
6 |
97,272,627 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4735:Frmd4b
|
UTSW |
6 |
97,436,220 (GRCm39) |
start gained |
probably benign |
|
R4793:Frmd4b
|
UTSW |
6 |
97,272,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R4940:Frmd4b
|
UTSW |
6 |
97,275,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R4948:Frmd4b
|
UTSW |
6 |
97,283,691 (GRCm39) |
missense |
probably benign |
0.06 |
R5092:Frmd4b
|
UTSW |
6 |
97,272,941 (GRCm39) |
missense |
probably damaging |
0.98 |
R5119:Frmd4b
|
UTSW |
6 |
97,277,275 (GRCm39) |
missense |
probably benign |
0.03 |
R5289:Frmd4b
|
UTSW |
6 |
97,279,309 (GRCm39) |
splice site |
probably null |
|
R5610:Frmd4b
|
UTSW |
6 |
97,283,752 (GRCm39) |
missense |
probably benign |
|
R5690:Frmd4b
|
UTSW |
6 |
97,330,164 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6248:Frmd4b
|
UTSW |
6 |
97,436,173 (GRCm39) |
missense |
probably benign |
0.10 |
R6437:Frmd4b
|
UTSW |
6 |
97,273,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Frmd4b
|
UTSW |
6 |
97,464,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R6825:Frmd4b
|
UTSW |
6 |
97,302,437 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6964:Frmd4b
|
UTSW |
6 |
97,282,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R7110:Frmd4b
|
UTSW |
6 |
97,273,192 (GRCm39) |
nonsense |
probably null |
|
R7154:Frmd4b
|
UTSW |
6 |
97,283,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Frmd4b
|
UTSW |
6 |
97,272,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R8073:Frmd4b
|
UTSW |
6 |
97,283,674 (GRCm39) |
missense |
probably benign |
0.03 |
R8382:Frmd4b
|
UTSW |
6 |
97,282,209 (GRCm39) |
missense |
probably benign |
|
R8746:Frmd4b
|
UTSW |
6 |
97,269,370 (GRCm39) |
missense |
probably benign |
|
R8856:Frmd4b
|
UTSW |
6 |
97,269,359 (GRCm39) |
nonsense |
probably null |
|
R8881:Frmd4b
|
UTSW |
6 |
97,272,735 (GRCm39) |
missense |
probably benign |
0.00 |
R8885:Frmd4b
|
UTSW |
6 |
97,389,480 (GRCm39) |
missense |
probably benign |
0.01 |
R8907:Frmd4b
|
UTSW |
6 |
97,273,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R8975:Frmd4b
|
UTSW |
6 |
97,283,477 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9032:Frmd4b
|
UTSW |
6 |
97,269,334 (GRCm39) |
missense |
probably benign |
0.00 |
R9085:Frmd4b
|
UTSW |
6 |
97,269,334 (GRCm39) |
missense |
probably benign |
0.00 |
R9094:Frmd4b
|
UTSW |
6 |
97,398,559 (GRCm39) |
missense |
|
|
R9429:Frmd4b
|
UTSW |
6 |
97,279,252 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Frmd4b
|
UTSW |
6 |
97,282,326 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |