Incidental Mutation 'R7154:Frmd4b'
| ID |
557142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd4b
|
| Ensembl Gene |
ENSMUSG00000030064 |
| Gene Name |
FERM domain containing 4B |
| Synonyms |
GRSP1, 6030440G05Rik |
| MMRRC Submission |
045256-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
97263828-97594502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97283707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 434
(E434V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032146]
[ENSMUST00000113355]
[ENSMUST00000113359]
|
| AlphaFold |
Q920B0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032146
AA Change: E434V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: E434V
| 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: E380V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: E380V
| 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: E388V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: E388V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
| Adgre1 |
G |
A |
17: 57,751,087 (GRCm39) |
|
probably null |
Het |
| Agap2 |
A |
G |
10: 126,927,524 (GRCm39) |
D1135G |
probably benign |
Het |
| Akp3 |
T |
C |
1: 87,052,946 (GRCm39) |
L45P |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,220,905 (GRCm39) |
W71R |
probably damaging |
Het |
| Asic3 |
G |
A |
5: 24,618,660 (GRCm39) |
|
probably benign |
Het |
| Asph |
A |
T |
4: 9,630,930 (GRCm39) |
N139K |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,747,098 (GRCm39) |
C127S |
probably benign |
Het |
| Auts2 |
A |
T |
5: 131,480,731 (GRCm39) |
S255T |
|
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Cacnb1 |
A |
G |
11: 97,895,959 (GRCm39) |
L443P |
probably damaging |
Het |
| Cbfa2t3 |
G |
A |
8: 123,364,883 (GRCm39) |
Q300* |
probably null |
Het |
| Ccer1 |
A |
T |
10: 97,530,201 (GRCm39) |
D288V |
unknown |
Het |
| Col18a1 |
G |
A |
10: 76,908,799 (GRCm39) |
P611S |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,407,694 (GRCm39) |
D281V |
possibly damaging |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,050 (GRCm39) |
Y245C |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,431,963 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,589,966 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
T |
C |
19: 40,713,430 (GRCm39) |
Y188H |
probably damaging |
Het |
| Epb42 |
T |
C |
2: 120,863,843 (GRCm39) |
D111G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,232,484 (GRCm39) |
D2064G |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,908,160 (GRCm39) |
V2614G |
probably damaging |
Het |
| Fos |
A |
T |
12: 85,520,931 (GRCm39) |
M40L |
probably benign |
Het |
| Galnt6 |
A |
T |
15: 100,591,345 (GRCm39) |
D586E |
probably benign |
Het |
| Gapvd1 |
T |
C |
2: 34,615,075 (GRCm39) |
K474R |
probably damaging |
Het |
| Gimap8 |
T |
A |
6: 48,633,122 (GRCm39) |
F314I |
probably damaging |
Het |
| Gm14393 |
T |
G |
2: 174,903,576 (GRCm39) |
K110N |
probably damaging |
Het |
| Gm4131 |
C |
A |
14: 62,718,382 (GRCm39) |
A75S |
probably damaging |
Het |
| Heatr6 |
G |
A |
11: 83,668,067 (GRCm39) |
V854I |
probably benign |
Het |
| Hic2 |
T |
A |
16: 17,076,806 (GRCm39) |
M545K |
possibly damaging |
Het |
| Ift70b |
C |
T |
2: 75,768,405 (GRCm39) |
R116H |
possibly damaging |
Het |
| Ip6k1 |
A |
G |
9: 107,922,861 (GRCm39) |
Y331C |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,032,527 (GRCm39) |
|
probably null |
Het |
| Kxd1 |
T |
C |
8: 70,968,084 (GRCm39) |
K88E |
probably damaging |
Het |
| Lrrc37a |
A |
C |
11: 103,393,682 (GRCm39) |
V581G |
probably benign |
Het |
| Mex3d |
A |
T |
10: 80,222,584 (GRCm39) |
V224E |
|
Het |
| Mtx2 |
T |
A |
2: 74,706,762 (GRCm39) |
C246S |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,338,468 (GRCm39) |
|
probably null |
Het |
| Myh6 |
A |
G |
14: 55,197,764 (GRCm39) |
I458T |
probably benign |
Het |
| Ndufs6 |
A |
G |
13: 73,468,411 (GRCm39) |
V96A |
possibly damaging |
Het |
| Nemf |
A |
T |
12: 69,363,515 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,349,950 (GRCm39) |
S2397G |
probably benign |
Het |
| Or4c15b |
A |
G |
2: 89,113,204 (GRCm39) |
I91T |
probably damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,741,997 (GRCm39) |
I289V |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,901,649 (GRCm39) |
E619G |
probably benign |
Het |
| Pfkl |
T |
C |
10: 77,837,289 (GRCm39) |
R95G |
probably benign |
Het |
| Plat |
T |
A |
8: 23,268,521 (GRCm39) |
I391K |
possibly damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,862,314 (GRCm39) |
H244R |
probably damaging |
Het |
| Rapgef3 |
G |
C |
15: 97,651,758 (GRCm39) |
H578Q |
probably benign |
Het |
| Rnf145 |
C |
A |
11: 44,415,822 (GRCm39) |
N12K |
probably damaging |
Het |
| Sfxn5 |
C |
T |
6: 85,309,405 (GRCm39) |
C100Y |
unknown |
Het |
| Sh3rf1 |
T |
A |
8: 61,825,748 (GRCm39) |
L581Q |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,078 (GRCm39) |
K887E |
probably benign |
Het |
| Spopfm2 |
A |
G |
3: 94,083,526 (GRCm39) |
I95T |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,531,795 (GRCm39) |
T2684N |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,535,023 (GRCm39) |
Q3760P |
probably benign |
Het |
| Stpg2 |
A |
G |
3: 138,921,056 (GRCm39) |
E87G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,106,231 (GRCm39) |
Q792R |
possibly damaging |
Het |
| Taf7 |
T |
C |
18: 37,775,601 (GRCm39) |
D322G |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,331,156 (GRCm39) |
S112G |
possibly damaging |
Het |
| Tbx3 |
A |
G |
5: 119,810,093 (GRCm39) |
M5V |
possibly damaging |
Het |
| Tmem45b |
A |
T |
9: 31,339,328 (GRCm39) |
I215N |
possibly damaging |
Het |
| Tpd52 |
G |
A |
3: 9,028,916 (GRCm39) |
Q43* |
probably null |
Het |
| Trpa1 |
T |
A |
1: 14,952,457 (GRCm39) |
N858I |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 85,972,538 (GRCm39) |
D767G |
probably damaging |
Het |
| Vmn2r3 |
G |
A |
3: 64,194,732 (GRCm39) |
T62I |
probably benign |
Het |
| Wdr59 |
A |
T |
8: 112,185,367 (GRCm39) |
N874K |
|
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 |
|
|
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 |
|
|
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'- AGTGGATACTCCTTTGGCATTC -3'
(R):5'- GTGAACGGTCTCCTGGTTTC -3'
Sequencing Primer
(F):5'- GCATTCTGCCCGTGAGCTC -3'
(R):5'- GGTTTCCTTTCATTATGTTCAGAAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation