Incidental Mutation 'IGL00849:Frmd4b'
ID 10824
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL00849
Quality Score
Status
Chromosome 6
Chromosomal Location 97263828-97594502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97285021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 347 (I347F)
Ref Sequence ENSEMBL: ENSMUSP00000108982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032146] [ENSMUST00000113355] [ENSMUST00000113359]
AlphaFold Q920B0
Predicted Effect probably damaging
Transcript: ENSMUST00000032146
AA Change: I401F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: I401F

DomainStartEndE-ValueType
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: I347F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: I347F

DomainStartEndE-ValueType
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: I355F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: I355F

DomainStartEndE-ValueType
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: ENSMUST00000143698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155326
Coding Region Coverage
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1b C A 13: 96,557,241 (GRCm39) E397D probably damaging Het
Arhgdia C A 11: 120,471,065 (GRCm39) D45Y probably damaging Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Dbn1 G T 13: 55,630,002 (GRCm39) R147S probably damaging Het
Dip2a A T 10: 76,128,152 (GRCm39) I36N probably damaging Het
Elmo1 A T 13: 20,766,493 (GRCm39) K607* probably null Het
Epha6 T G 16: 60,245,474 (GRCm39) I242L possibly damaging Het
Epha7 A G 4: 28,870,662 (GRCm39) E313G possibly damaging Het
Gucy2c T C 6: 136,742,612 (GRCm39) K242R probably benign Het
Kif1c G T 11: 70,596,953 (GRCm39) L313F probably damaging Het
Ncoa6 T A 2: 155,263,608 (GRCm39) Q275H possibly damaging Het
Phf20l1 C A 15: 66,508,681 (GRCm39) P820T probably benign Het
Robo2 T C 16: 73,770,665 (GRCm39) T487A possibly damaging Het
Ryr2 G T 13: 11,600,364 (GRCm39) L4614I possibly damaging Het
Tbx19 T A 1: 164,979,609 (GRCm39) T187S probably benign Het
Tomm70a T C 16: 56,970,173 (GRCm39) probably benign Het
Tsnaxip1 G T 8: 106,568,800 (GRCm39) D430Y probably damaging Het
Uvssa G T 5: 33,566,192 (GRCm39) G445V probably benign Het
Zfp628 C A 7: 4,923,805 (GRCm39) L676I probably damaging Het
Zfp871 A G 17: 32,994,873 (GRCm39) Y101H probably benign Het
Other mutations in Frmd4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9429:Frmd4b UTSW 6 97,279,252 (GRCm39) missense probably damaging 1.00
X0020:Frmd4b UTSW 6 97,282,326 (GRCm39) nonsense probably null
Posted On 2012-12-06