Incidental Mutation 'IGL02429:Frmd4b'
| ID |
293076 |
| 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 # |
IGL02429
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
97263828-97594502 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 97302390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032146]
[ENSMUST00000113355]
[ENSMUST00000113359]
|
| AlphaFold |
Q920B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032146
|
| SMART Domains |
Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
| 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 benign
Transcript: ENSMUST00000113355
|
| SMART Domains |
Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
| 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 |
probably benign
Transcript: ENSMUST00000113359
|
| SMART Domains |
Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
| 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 |
noncoding transcript
Transcript: ENSMUST00000138301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155326
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
A |
T |
1: 127,687,453 (GRCm39) |
D245V |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,935,289 (GRCm39) |
|
probably benign |
Het |
| Arhgap36 |
A |
G |
X: 48,583,583 (GRCm39) |
D77G |
possibly damaging |
Het |
| Asap1 |
A |
T |
15: 64,039,589 (GRCm39) |
M187K |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,407,548 (GRCm39) |
V2145A |
probably benign |
Het |
| Ccn6 |
T |
C |
10: 39,030,989 (GRCm39) |
N178S |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,767,732 (GRCm39) |
T110A |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,641,770 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,533,896 (GRCm39) |
L493S |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,261,266 (GRCm39) |
T72M |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,521,730 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
A |
G |
16: 4,837,240 (GRCm39) |
M397T |
probably benign |
Het |
| Golm2 |
A |
G |
2: 121,742,468 (GRCm39) |
T306A |
probably benign |
Het |
| Gtf2a1l |
G |
T |
17: 88,976,141 (GRCm39) |
M1I |
probably null |
Het |
| Hdac4 |
A |
G |
1: 91,940,417 (GRCm39) |
L154P |
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,231,720 (GRCm39) |
C422S |
probably damaging |
Het |
| Kng2 |
T |
A |
16: 22,830,829 (GRCm39) |
K160I |
probably damaging |
Het |
| Lrrc23 |
C |
A |
6: 124,755,130 (GRCm39) |
A136S |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,855,193 (GRCm39) |
I402T |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,956,237 (GRCm39) |
H509R |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,039,334 (GRCm39) |
K782E |
probably damaging |
Het |
| Mvb12b |
G |
A |
2: 33,717,800 (GRCm39) |
R114W |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,149,808 (GRCm39) |
K1818* |
probably null |
Het |
| Myo1h |
C |
T |
5: 114,497,799 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 27,000,598 (GRCm39) |
S1402T |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,516 (GRCm39) |
N71S |
probably benign |
Het |
| Oas1c |
C |
A |
5: 120,940,133 (GRCm39) |
M344I |
probably benign |
Het |
| Or10g7 |
T |
A |
9: 39,905,138 (GRCm39) |
F11I |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,612,247 (GRCm39) |
L1019P |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,718,453 (GRCm39) |
E494G |
probably benign |
Het |
| Pole |
T |
C |
5: 110,447,666 (GRCm39) |
I734T |
probably benign |
Het |
| Ppp1r3b |
T |
C |
8: 35,851,769 (GRCm39) |
S203P |
probably benign |
Het |
| Pth2r |
G |
T |
1: 65,385,998 (GRCm39) |
M240I |
probably benign |
Het |
| Ptprr |
T |
A |
10: 116,109,672 (GRCm39) |
F394I |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,239,329 (GRCm39) |
S265P |
possibly damaging |
Het |
| Rbpjl |
A |
G |
2: 164,255,815 (GRCm39) |
D353G |
possibly damaging |
Het |
| Rfc3 |
A |
G |
5: 151,574,596 (GRCm39) |
Y8H |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,118,187 (GRCm39) |
|
probably null |
Het |
| Runx1t1 |
A |
T |
4: 13,865,294 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
A |
17: 31,519,483 (GRCm39) |
|
probably null |
Het |
| Slc38a10 |
T |
C |
11: 120,025,714 (GRCm39) |
|
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,397,342 (GRCm39) |
V328A |
probably benign |
Het |
| Slf2 |
T |
C |
19: 44,930,167 (GRCm39) |
S415P |
probably benign |
Het |
| Spata17 |
C |
A |
1: 186,872,631 (GRCm39) |
R60L |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,118,369 (GRCm39) |
D2237E |
probably benign |
Het |
| Swap70 |
T |
A |
7: 109,863,179 (GRCm39) |
N169K |
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,443 (GRCm39) |
D505G |
probably benign |
Het |
| Traf1 |
A |
G |
2: 34,839,115 (GRCm39) |
V70A |
probably benign |
Het |
| Traf3 |
T |
A |
12: 111,209,899 (GRCm39) |
V165E |
probably benign |
Het |
| Trpc5 |
T |
C |
X: 143,194,795 (GRCm39) |
E570G |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,460,279 (GRCm39) |
N601S |
probably benign |
Het |
| Vmn2r30 |
C |
T |
7: 7,337,243 (GRCm39) |
C131Y |
possibly damaging |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,551 (GRCm39) |
I221V |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,150,596 (GRCm39) |
V481E |
possibly 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 |
|
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 |
|
IGL03260:Frmd4b
|
APN |
6 |
97,373,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation