Incidental Mutation 'R4940:Frmd4b'
| ID |
382995 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4940 (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 A
at 97275051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 617
(S617C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032146]
[ENSMUST00000113355]
[ENSMUST00000113359]
|
| AlphaFold |
Q920B0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032146
AA Change: S663C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: S663C
| 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 |
probably damaging
Transcript: ENSMUST00000113355
AA Change: S609C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: S609C
| 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 damaging
Transcript: ENSMUST00000113359
AA Change: S617C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: S617C
| 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: ENSMUST00000143698
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,828,782 (GRCm39) |
T240A |
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,931,917 (GRCm39) |
Y57H |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,420 (GRCm39) |
I641T |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,616,560 (GRCm39) |
Y2410H |
probably damaging |
Het |
| Apbb2 |
C |
A |
5: 66,609,604 (GRCm39) |
L14F |
probably null |
Het |
| Arhgdia |
T |
C |
11: 120,470,061 (GRCm39) |
D204G |
probably damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,939 (GRCm39) |
M256K |
probably benign |
Het |
| Catsperd |
A |
T |
17: 56,969,736 (GRCm39) |
Y610F |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,853,466 (GRCm39) |
D27E |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,917,453 (GRCm39) |
I893F |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,917,508 (GRCm39) |
H911R |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,143,714 (GRCm39) |
I2966F |
probably damaging |
Het |
| Cfap299 |
A |
G |
5: 98,885,495 (GRCm39) |
H134R |
possibly damaging |
Het |
| Chat |
G |
A |
14: 32,141,062 (GRCm39) |
P445L |
probably damaging |
Het |
| Chdh |
G |
T |
14: 29,754,809 (GRCm39) |
R273L |
possibly damaging |
Het |
| Clic3 |
T |
C |
2: 25,347,929 (GRCm39) |
V72A |
probably benign |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,251 (GRCm39) |
D244E |
probably benign |
Het |
| Ddr1 |
T |
A |
17: 36,001,022 (GRCm39) |
D241V |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,908,314 (GRCm39) |
K605N |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,712,487 (GRCm39) |
F164I |
probably damaging |
Het |
| Dstyk |
T |
A |
1: 132,380,844 (GRCm39) |
N446K |
probably damaging |
Het |
| Epb42 |
A |
T |
2: 120,864,932 (GRCm39) |
L53Q |
probably damaging |
Het |
| Extl2 |
G |
C |
3: 115,820,841 (GRCm39) |
K229N |
probably benign |
Het |
| Fscb |
C |
T |
12: 64,520,588 (GRCm39) |
V293I |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Gm4978 |
A |
C |
9: 69,358,154 (GRCm39) |
|
probably benign |
Het |
| Gm6729 |
A |
G |
10: 86,376,252 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
A |
C |
3: 108,007,932 (GRCm39) |
N293T |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,117,470 (GRCm39) |
I142T |
probably benign |
Het |
| Irak2 |
G |
A |
6: 113,670,691 (GRCm39) |
V536I |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,387,890 (GRCm39) |
|
probably null |
Het |
| Kdm4a |
A |
G |
4: 118,018,951 (GRCm39) |
S422P |
probably benign |
Het |
| Lair1 |
T |
A |
7: 4,031,948 (GRCm39) |
D53V |
probably benign |
Het |
| Lhx1 |
G |
T |
11: 84,410,735 (GRCm39) |
Y196* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,438 (GRCm39) |
T2329I |
unknown |
Het |
| Mag |
T |
C |
7: 30,608,625 (GRCm39) |
D163G |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,958,708 (GRCm39) |
V459A |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,178,944 (GRCm39) |
Y1451H |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,060,131 (GRCm39) |
C2341S |
probably damaging |
Het |
| Mppe1 |
A |
G |
18: 67,361,095 (GRCm39) |
C221R |
probably damaging |
Het |
| Mtus1 |
T |
A |
8: 41,494,515 (GRCm39) |
H39L |
possibly damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
| Nutm2 |
T |
C |
13: 50,628,909 (GRCm39) |
C658R |
possibly damaging |
Het |
| Olfm1 |
T |
C |
2: 28,112,602 (GRCm39) |
V239A |
possibly damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,964,567 (GRCm39) |
H245Y |
possibly damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,529 (GRCm39) |
L356S |
probably damaging |
Het |
| Pik3r4 |
C |
G |
9: 105,546,193 (GRCm39) |
H207D |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,794,585 (GRCm39) |
T1859A |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,221,625 (GRCm39) |
V335E |
possibly damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,161,740 (GRCm39) |
T705A |
probably benign |
Het |
| Prmt7 |
T |
C |
8: 106,963,910 (GRCm39) |
V268A |
probably benign |
Het |
| Psd |
C |
T |
19: 46,310,856 (GRCm39) |
G398R |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,253,155 (GRCm39) |
V188A |
probably damaging |
Het |
| Rnf13 |
T |
A |
3: 57,703,627 (GRCm39) |
N110K |
probably damaging |
Het |
| Rnf170 |
C |
T |
8: 26,615,939 (GRCm39) |
Q77* |
probably null |
Het |
| Rrp8 |
A |
T |
7: 105,383,284 (GRCm39) |
Y327* |
probably null |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,150 (GRCm39) |
D228G |
probably damaging |
Het |
| Scgn |
T |
A |
13: 24,173,807 (GRCm39) |
T35S |
probably benign |
Het |
| Scyl3 |
C |
T |
1: 163,762,316 (GRCm39) |
P74S |
probably damaging |
Het |
| Sec61b |
T |
G |
4: 47,483,074 (GRCm39) |
S123A |
probably benign |
Het |
| Sertad2 |
T |
C |
11: 20,597,899 (GRCm39) |
S32P |
possibly damaging |
Het |
| Slc23a3 |
T |
C |
1: 75,110,447 (GRCm39) |
|
probably null |
Het |
| Sult2a2 |
T |
G |
7: 13,472,223 (GRCm39) |
V140G |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,744,667 (GRCm39) |
S320T |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,141 (GRCm39) |
Y52H |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,300 (GRCm39) |
E183G |
probably null |
Het |
| Trip10 |
G |
T |
17: 57,570,017 (GRCm39) |
V561F |
possibly damaging |
Het |
| Ttc7 |
G |
T |
17: 87,614,386 (GRCm39) |
V184F |
probably benign |
Het |
| Ubc |
A |
G |
5: 125,463,293 (GRCm39) |
V678A |
probably benign |
Het |
| Unk |
A |
G |
11: 115,944,491 (GRCm39) |
E414G |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,705,517 (GRCm39) |
N365D |
probably damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,781 (GRCm39) |
I85K |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,303,891 (GRCm39) |
H1364Q |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGAATGAGTCAGGGCGAC -3'
(R):5'- AGCGCTTCCACTAATAGCCATG -3'
Sequencing Primer
(F):5'- GGCGACCACTGTAGAAAGTCAC -3'
(R):5'- TCAGGATGCTCACCTCTAGAGATG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation