Incidental Mutation 'R5690:Frmd4b'
| ID |
501297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd4b
|
| Ensembl Gene |
ENSMUSG00000030064 |
| Gene Name |
FERM domain containing 4B |
| Synonyms |
GRSP1, 6030440G05Rik |
| MMRRC Submission |
043323-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5690 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
97263828-97594502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97330164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 133
(E133G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032146]
[ENSMUST00000113355]
[ENSMUST00000113359]
|
| AlphaFold |
Q920B0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032146
AA Change: E187G
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: E187G
| 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 |
possibly damaging
Transcript: ENSMUST00000113355
AA Change: E133G
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: E133G
| 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
AA Change: E141G
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: E141G
| 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: ENSMUST00000142589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152385
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
A |
G |
10: 70,759,144 (GRCm39) |
|
probably benign |
Het |
| Acadl |
T |
C |
1: 66,892,445 (GRCm39) |
Y126C |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,792,129 (GRCm39) |
|
probably null |
Het |
| Ap1s1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
5: 137,066,233 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp6v1e1 |
A |
T |
6: 120,785,317 (GRCm39) |
|
probably null |
Het |
| Axin1 |
A |
G |
17: 26,413,911 (GRCm39) |
Y792C |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,607,996 (GRCm39) |
N233S |
probably benign |
Het |
| Ccer2 |
C |
A |
7: 28,455,629 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,218,269 (GRCm39) |
S1481P |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,806,019 (GRCm39) |
T2277S |
probably benign |
Het |
| Ctsl |
T |
A |
13: 64,513,022 (GRCm39) |
N300I |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,382,370 (GRCm39) |
I1247V |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,655,108 (GRCm39) |
Q135L |
probably benign |
Het |
| Efcab14 |
G |
A |
4: 115,617,244 (GRCm39) |
V318M |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,810,647 (GRCm39) |
S910N |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,453 (GRCm39) |
F2514S |
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,576,272 (GRCm39) |
D261G |
possibly damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,318 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
C |
2: 40,640,906 (GRCm39) |
|
probably null |
Het |
| Mrpl45 |
C |
A |
11: 97,212,412 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,220,101 (GRCm39) |
E150G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,386,285 (GRCm39) |
V737D |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,341,296 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,732 (GRCm39) |
V277E |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,784,769 (GRCm39) |
S343T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pnpla1 |
A |
T |
17: 29,097,346 (GRCm39) |
I171F |
probably damaging |
Het |
| Rab5if |
G |
A |
2: 156,707,234 (GRCm39) |
V58I |
probably benign |
Het |
| Rdh8 |
A |
G |
9: 20,736,785 (GRCm39) |
N259S |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,229,735 (GRCm39) |
L927S |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,586,878 (GRCm39) |
M496T |
probably benign |
Het |
| Slc8b1 |
G |
A |
5: 120,651,270 (GRCm39) |
W10* |
probably null |
Het |
| Smarcc2 |
G |
A |
10: 128,320,276 (GRCm39) |
G887S |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,996,974 (GRCm39) |
S549P |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,085,802 (GRCm39) |
M1181V |
probably benign |
Het |
| Tbx15 |
T |
C |
3: 99,216,166 (GRCm39) |
S76P |
probably damaging |
Het |
| Tbx2 |
A |
T |
11: 85,727,879 (GRCm39) |
I271F |
probably damaging |
Het |
| Thap4 |
A |
G |
1: 93,644,352 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,074,306 (GRCm39) |
Y333C |
probably damaging |
Het |
| Trcg1 |
C |
T |
9: 57,149,094 (GRCm39) |
P222L |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,148,045 (GRCm39) |
V326A |
probably benign |
Het |
| Unc80 |
A |
C |
1: 66,679,731 (GRCm39) |
I2101L |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,780 (GRCm39) |
L111S |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
| Xpo4 |
T |
C |
14: 57,828,446 (GRCm39) |
I805V |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCCTGAAACACTGTGAG -3'
(R):5'- TCTTGTGTTAAGGGTAAGACACATC -3'
Sequencing Primer
(F):5'- CCCTGAAACACTGTGAGAAAGTTTCG -3'
(R):5'- AGGGTAAGACACATCTCATATATACG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation