Incidental Mutation 'R8746:Frmd4b'
| ID |
663548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd4b
|
| Ensembl Gene |
ENSMUSG00000030064 |
| Gene Name |
FERM domain containing 4B |
| Synonyms |
GRSP1, 6030440G05Rik |
| MMRRC Submission |
068590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8746 (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 97269370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 981
(T981S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032146]
[ENSMUST00000113355]
[ENSMUST00000113359]
|
| AlphaFold |
Q920B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032146
AA Change: T981S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: T981S
| 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 benign
Transcript: ENSMUST00000113355
AA Change: T927S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: T927S
| 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: T935S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: T935S
| 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: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,451,529 (GRCm39) |
M871K |
probably benign |
Het |
| 5530400C23Rik |
A |
C |
6: 133,271,256 (GRCm39) |
E100A |
possibly damaging |
Het |
| Aatf |
A |
T |
11: 84,402,338 (GRCm39) |
I116N |
probably benign |
Het |
| Abcb11 |
G |
T |
2: 69,087,754 (GRCm39) |
|
probably benign |
Het |
| Adarb2 |
G |
T |
13: 8,802,680 (GRCm39) |
A652S |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,281,028 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
C |
T |
3: 96,504,791 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,840,513 (GRCm39) |
I395V |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,581,696 (GRCm39) |
R203L |
probably damaging |
Het |
| Ccr2 |
T |
C |
9: 123,906,448 (GRCm39) |
F243L |
probably benign |
Het |
| Ccr4 |
A |
G |
9: 114,321,918 (GRCm39) |
V49A |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,803,465 (GRCm39) |
G833R |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,592,695 (GRCm39) |
D234G |
probably benign |
Het |
| Drd5 |
G |
T |
5: 38,477,433 (GRCm39) |
R142I |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,529,056 (GRCm39) |
D264G |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,553,534 (GRCm39) |
K61R |
probably damaging |
Het |
| Gcg |
T |
A |
2: 62,305,325 (GRCm39) |
K180N |
probably damaging |
Het |
| Gm10840 |
G |
A |
11: 106,051,742 (GRCm39) |
E23K |
unknown |
Het |
| Gm2696 |
T |
G |
10: 77,651,037 (GRCm39) |
C174W |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,899,985 (GRCm39) |
I299V |
probably benign |
Het |
| Hepacam |
T |
A |
9: 37,293,030 (GRCm39) |
V207E |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,864,745 (GRCm39) |
M1181K |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,806,384 (GRCm39) |
S96P |
possibly damaging |
Het |
| Marf1 |
T |
A |
16: 13,935,168 (GRCm39) |
E1533D |
probably benign |
Het |
| Megf9 |
A |
G |
4: 70,353,511 (GRCm39) |
C432R |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 101,954,040 (GRCm39) |
Y236H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,172,613 (GRCm39) |
I1565V |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,183,993 (GRCm39) |
|
probably benign |
Het |
| Or56b2j |
A |
T |
7: 104,353,067 (GRCm39) |
I98F |
probably damaging |
Het |
| Or5ac21 |
T |
A |
16: 59,123,973 (GRCm39) |
F152L |
probably benign |
Het |
| Or5b3 |
A |
G |
19: 13,388,092 (GRCm39) |
D53G |
probably benign |
Het |
| Or5g24-ps1 |
T |
A |
2: 85,464,221 (GRCm39) |
Y149* |
probably null |
Het |
| Or6f1 |
C |
T |
7: 85,970,437 (GRCm39) |
C241Y |
probably damaging |
Het |
| Or9k2b |
T |
C |
10: 130,016,086 (GRCm39) |
Y221C |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,394,067 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
A |
T |
17: 31,809,624 (GRCm39) |
Q76L |
possibly damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,907,777 (GRCm39) |
T953K |
|
Het |
| Plekhn1 |
C |
A |
4: 156,316,682 (GRCm39) |
R333L |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,194,610 (GRCm39) |
V111D |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,954,597 (GRCm39) |
I398M |
possibly damaging |
Het |
| Ranbp3 |
T |
C |
17: 57,009,826 (GRCm39) |
V137A |
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,757,744 (GRCm39) |
F21I |
probably damaging |
Het |
| Rgs8 |
T |
C |
1: 153,547,537 (GRCm39) |
S56P |
probably damaging |
Het |
| Rhpn1 |
G |
A |
15: 75,585,425 (GRCm39) |
V593M |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,437,784 (GRCm39) |
S589P |
probably benign |
Het |
| Skp1 |
A |
G |
11: 52,136,843 (GRCm39) |
K163R |
probably damaging |
Het |
| Slf2 |
A |
G |
19: 44,962,063 (GRCm39) |
Y1080C |
probably damaging |
Het |
| Tcf4 |
C |
T |
18: 69,654,572 (GRCm39) |
|
probably benign |
Het |
| Tmem144 |
C |
T |
3: 79,732,655 (GRCm39) |
V208M |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,902,884 (GRCm39) |
L142Q |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,176,120 (GRCm39) |
V2316D |
unknown |
Het |
| Yme1l1 |
T |
A |
2: 23,052,543 (GRCm39) |
S66T |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,243,885 (GRCm39) |
S739P |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,224,157 (GRCm39) |
V209E |
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 |
|
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 |
|
|
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'- AGCTACATGGAGCTCAGGAAAC -3'
(R):5'- TACCGGAGTGTGAAGCAAC -3'
Sequencing Primer
(F):5'- TGTCCTCAGAGTGTGAACAC -3'
(R):5'- GCAACCTGAACAGATTTAGCTTGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation