Incidental Mutation 'R9429:Frmd4b'
| ID |
712805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmd4b
|
| Ensembl Gene |
ENSMUSG00000030064 |
| Gene Name |
FERM domain containing 4B |
| Synonyms |
GRSP1, 6030440G05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9429 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
97263828-97594502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97279252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 591
(D591G)
|
| 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: D591G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: D591G
| 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: D537G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: D537G
| 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: D545G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: D545G
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
T |
8: 33,919,165 (GRCm39) |
|
probably benign |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam7 |
G |
C |
14: 68,771,080 (GRCm39) |
H15Q |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,567,468 (GRCm39) |
I5235N |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,741,165 (GRCm39) |
C100G |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,649 (GRCm39) |
T1063A |
probably benign |
Het |
| Atmin |
A |
G |
8: 117,670,307 (GRCm39) |
R48G |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,346,565 (GRCm39) |
E441G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,389,755 (GRCm39) |
V505A |
possibly damaging |
Het |
| Chd5 |
T |
C |
4: 152,447,364 (GRCm39) |
V471A |
probably damaging |
Het |
| Cma2 |
A |
G |
14: 56,210,276 (GRCm39) |
I110V |
possibly damaging |
Het |
| Cnst |
A |
C |
1: 179,432,566 (GRCm39) |
N243T |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,310,439 (GRCm39) |
N1203I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,731,585 (GRCm39) |
H1556L |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,375,556 (GRCm39) |
K185N |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 30,997,499 (GRCm39) |
Q2620* |
probably null |
Het |
| Dusp10 |
A |
C |
1: 183,801,091 (GRCm39) |
D286A |
probably benign |
Het |
| Erich6 |
A |
G |
3: 58,536,935 (GRCm39) |
V252A |
possibly damaging |
Het |
| Fhod1 |
A |
G |
8: 106,057,139 (GRCm39) |
L945P |
probably damaging |
Het |
| Foxh1 |
C |
T |
15: 76,553,442 (GRCm39) |
R120Q |
probably null |
Het |
| Gbe1 |
G |
A |
16: 70,292,203 (GRCm39) |
V512I |
probably benign |
Het |
| Ghitm |
A |
G |
14: 36,852,655 (GRCm39) |
S142P |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,091,172 (GRCm39) |
A808T |
possibly damaging |
Het |
| Gm14496 |
C |
T |
2: 181,637,934 (GRCm39) |
T336I |
possibly damaging |
Het |
| Ido2 |
T |
C |
8: 25,037,194 (GRCm39) |
T171A |
probably damaging |
Het |
| Kctd19 |
A |
T |
8: 106,109,652 (GRCm39) |
I930N |
probably damaging |
Het |
| Kctd2 |
T |
C |
11: 115,318,277 (GRCm39) |
Y187H |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,124,203 (GRCm39) |
T246A |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,118,449 (GRCm39) |
M2554V |
|
Het |
| Laptm5 |
A |
G |
4: 130,655,961 (GRCm39) |
Y93C |
|
Het |
| Mroh2b |
T |
A |
15: 4,963,907 (GRCm39) |
L833Q |
probably damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,193,424 (GRCm39) |
D187G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,098 (GRCm39) |
T1866I |
unknown |
Het |
| Myo1a |
G |
T |
10: 127,543,247 (GRCm39) |
D168Y |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,559,892 (GRCm39) |
S1005L |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,308,592 (GRCm39) |
M523L |
probably benign |
Het |
| Nt5c2 |
T |
A |
19: 46,877,459 (GRCm39) |
H494L |
probably benign |
Het |
| Oasl2 |
G |
A |
5: 115,043,040 (GRCm39) |
V271I |
probably benign |
Het |
| Or13a1 |
T |
G |
6: 116,471,292 (GRCm39) |
S241A |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,861,871 (GRCm39) |
A268V |
possibly damaging |
Het |
| Or5e1 |
G |
T |
7: 108,354,412 (GRCm39) |
M116I |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,351,489 (GRCm39) |
T1006A |
probably benign |
Het |
| Phyhd1 |
C |
A |
2: 30,156,917 (GRCm39) |
F19L |
probably benign |
Het |
| Pter |
T |
A |
2: 12,985,112 (GRCm39) |
D147E |
probably benign |
Het |
| Rps6ka1 |
A |
C |
4: 133,598,900 (GRCm39) |
L90V |
probably damaging |
Het |
| Rrp15 |
A |
T |
1: 186,481,368 (GRCm39) |
D46E |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,809,459 (GRCm39) |
F789L |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,801,294 (GRCm39) |
K456R |
probably benign |
Het |
| Septin11 |
G |
A |
5: 93,321,397 (GRCm39) |
|
probably null |
Het |
| Sowahb |
T |
C |
5: 93,191,080 (GRCm39) |
I546M |
possibly damaging |
Het |
| Spata31 |
C |
A |
13: 65,070,336 (GRCm39) |
T828K |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,034 (GRCm39) |
T147A |
probably benign |
Het |
| Tcf3 |
G |
A |
10: 80,252,436 (GRCm39) |
P350S |
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,515 (GRCm39) |
D402G |
probably benign |
Het |
| Themis3 |
T |
C |
17: 66,866,665 (GRCm39) |
R192G |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Trpc3 |
T |
G |
3: 36,705,777 (GRCm39) |
I473L |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,620,085 (GRCm39) |
L4Q |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,750,226 (GRCm39) |
Y5* |
probably null |
Het |
| Vav3 |
T |
A |
3: 109,564,561 (GRCm39) |
Y673* |
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,237 (GRCm39) |
T180S |
probably benign |
Het |
| Vmn1r90 |
A |
T |
7: 14,295,647 (GRCm39) |
N150K |
probably damaging |
Het |
| Zbed6 |
A |
C |
1: 133,585,453 (GRCm39) |
I628R |
probably damaging |
Het |
| Zfp1007 |
A |
T |
5: 109,824,334 (GRCm39) |
L372* |
probably null |
Het |
| Zfp750 |
G |
A |
11: 121,404,693 (GRCm39) |
R61C |
probably damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,703 (GRCm39) |
I125T |
probably damaging |
Het |
| Zfta |
T |
C |
19: 7,399,594 (GRCm39) |
L447P |
probably 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 |
|
|
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 |
|
|
|
X0020:Frmd4b
|
UTSW |
6 |
97,282,326 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAAAGAGAAATAAGTAGGCTTCCC -3'
(R):5'- GCGCTGTAATTGCTTACATTTATC -3'
Sequencing Primer
(F):5'- TACTGGGACCATAGGTATGCATC -3'
(R):5'- TGCTTCGCTGAACTCAT -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation