Incidental Mutation 'R4793:Frmd4b'
ID 368762
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) question?
Stock # R4793 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 97263828-97594502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97272822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 857 (S857T)
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: S857T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: S857T

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 benign
Transcript: ENSMUST00000113355
AA Change: S803T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: S803T

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 possibly damaging
Transcript: ENSMUST00000113359
AA Change: S811T

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: S811T

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: ENSMUST00000143698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203486
Meta Mutation Damage Score 0.0951 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (91/91)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,082,544 (GRCm39) E1143V probably benign Het
Abi2 T A 1: 60,448,963 (GRCm39) M1K probably null Het
Acp2 T C 2: 91,037,134 (GRCm39) F205L probably benign Het
Adam17 T C 12: 21,397,396 (GRCm39) N219D probably benign Het
Aldh2 T C 5: 121,707,042 (GRCm39) S168G probably damaging Het
Arhgap15 A T 2: 44,032,353 (GRCm39) E312D probably damaging Het
Calm5 T C 13: 3,904,401 (GRCm39) S32P probably benign Het
Capn12 G A 7: 28,592,094 (GRCm39) D671N probably benign Het
Ccdc73 A G 2: 104,848,127 (GRCm39) probably null Het
Cdc20 T A 4: 118,294,261 (GRCm39) I20F probably benign Het
Cdh23 A T 10: 60,167,129 (GRCm39) I1841N probably damaging Het
Cftr T C 6: 18,226,087 (GRCm39) V345A probably damaging Het
Col15a1 T C 4: 47,262,997 (GRCm39) S550P possibly damaging Het
Col4a4 A G 1: 82,516,820 (GRCm39) Y133H unknown Het
Csmd1 A G 8: 16,138,277 (GRCm39) S1592P probably damaging Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dock5 A G 14: 68,037,803 (GRCm39) S947P probably benign Het
Dpysl2 G T 14: 67,052,498 (GRCm39) A339D possibly damaging Het
Ebf2 A G 14: 67,647,531 (GRCm39) D360G probably damaging Het
Ensa T C 3: 95,532,489 (GRCm39) probably null Het
Fap C A 2: 62,374,713 (GRCm39) V229F probably damaging Het
Fbn1 C A 2: 125,163,155 (GRCm39) G2116* probably null Het
Fsip2 T A 2: 82,818,044 (GRCm39) Y4592* probably null Het
Fubp1 T A 3: 151,928,966 (GRCm39) Y135N possibly damaging Het
Gdap2 T C 3: 100,078,234 (GRCm39) L66P probably damaging Het
Gm10257 T C 13: 101,083,305 (GRCm39) noncoding transcript Het
Gm1758 A T 16: 14,325,036 (GRCm39) noncoding transcript Het
Gna13 T C 11: 109,254,455 (GRCm39) probably benign Het
H2bc13 T C 13: 21,900,088 (GRCm39) S76G probably benign Het
Heatr1 T C 13: 12,446,718 (GRCm39) I1689T probably benign Het
Hephl1 A G 9: 15,009,286 (GRCm39) I102T probably benign Het
Hltf T G 3: 20,118,114 (GRCm39) Y121D possibly damaging Het
Hspg2 T C 4: 137,256,784 (GRCm39) V1509A possibly damaging Het
Ifitm5 G T 7: 140,530,077 (GRCm39) R16S probably benign Het
Il1rap A C 16: 26,513,984 (GRCm39) D239A probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcna6 T C 6: 126,715,519 (GRCm39) I457V probably damaging Het
Kctd17 T A 15: 78,317,224 (GRCm39) L47Q probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc63 A G 14: 75,363,601 (GRCm39) S177P possibly damaging Het
Lrriq1 T C 10: 103,006,327 (GRCm39) D1266G probably benign Het
Map3k2 G T 18: 32,361,203 (GRCm39) M554I probably damaging Het
Mst1r T A 9: 107,797,124 (GRCm39) V1331E probably damaging Het
Musk T C 4: 58,373,400 (GRCm39) I775T probably damaging Het
Mybl2 A G 2: 162,916,683 (GRCm39) K7E probably damaging Het
Nf1 T C 11: 79,338,398 (GRCm39) S1137P probably damaging Het
Nlrp5 A G 7: 23,117,055 (GRCm39) I260V probably damaging Het
Or13c7 A T 4: 43,854,323 (GRCm39) N5Y probably benign Het
Or9g4 A C 2: 85,504,842 (GRCm39) Y218D probably damaging Het
Or9s23 G T 1: 92,501,207 (GRCm39) A105S possibly damaging Het
Pabpc1l C T 2: 163,869,542 (GRCm39) A114V possibly damaging Het
Plac8l1 T A 18: 42,311,973 (GRCm39) I149F possibly damaging Het
Pou6f1 T A 15: 100,476,293 (GRCm39) N531I probably damaging Het
Prdm10 A G 9: 31,264,701 (GRCm39) Y712C probably damaging Het
Ptbp3 T C 4: 59,514,297 (GRCm39) T43A possibly damaging Het
Ptpn13 T C 5: 103,730,644 (GRCm39) probably null Het
Rnf135 T C 11: 80,087,775 (GRCm39) probably null Het
Rusf1 A T 7: 127,887,374 (GRCm39) probably benign Het
Serpinb3d A G 1: 107,005,951 (GRCm39) L379P probably damaging Het
Sh2d6 T A 6: 72,494,581 (GRCm39) T124S probably benign Het
Slc26a5 G A 5: 22,042,992 (GRCm39) P153S probably damaging Het
Slc5a7 A G 17: 54,588,822 (GRCm39) F275S possibly damaging Het
Snx14 A G 9: 88,276,495 (GRCm39) S606P probably damaging Het
Sphkap A T 1: 83,255,805 (GRCm39) I648K possibly damaging Het
Spon2 T C 5: 33,371,904 (GRCm39) T301A probably damaging Het
Srpra C T 9: 35,124,447 (GRCm39) T48I probably benign Het
Taar9 G A 10: 23,985,408 (GRCm39) P9S probably benign Het
Tacc1 A T 8: 25,672,405 (GRCm39) S274R possibly damaging Het
Tc2n A G 12: 101,617,376 (GRCm39) S348P possibly damaging Het
Timd2 G T 11: 46,578,008 (GRCm39) T41K probably damaging Het
Tmem132a T A 19: 10,842,857 (GRCm39) E206V probably damaging Het
Tmt1a3 A G 15: 100,232,889 (GRCm39) M27V probably benign Het
Tpi1 A T 6: 124,789,544 (GRCm39) probably benign Het
Traf5 T G 1: 191,729,765 (GRCm39) T429P probably benign Het
Trav4-3 A G 14: 53,836,615 (GRCm39) S27G possibly damaging Het
Tubd1 T C 11: 86,457,895 (GRCm39) M462T probably benign Het
Ube4a T C 9: 44,860,120 (GRCm39) D314G probably damaging Het
Utp25 T A 1: 192,796,116 (GRCm39) Q50L probably null Het
Vmn2r58 G T 7: 41,514,495 (GRCm39) T158K probably damaging Het
Vmn2r68 C A 7: 84,883,648 (GRCm39) M152I probably benign Het
Vmn2r91 A G 17: 18,325,658 (GRCm39) E92G probably damaging Het
Wdr20rt T C 12: 65,273,395 (GRCm39) V113A probably damaging Het
Zfp729a T C 13: 67,768,546 (GRCm39) H561R probably damaging Het
Zfp804a T A 2: 82,066,186 (GRCm39) D52E probably damaging Het
Other mutations in Frmd4b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGTCAAAGCTCGTCTGTGGG -3'
(R):5'- GAGGAACGGTGTCTACTCCAAAG -3'

Sequencing Primer
(F):5'- AAGCTCGTCTGTGGGCTGTG -3'
(R):5'- GTGTCTACTCCAAAGGTCAGGAC -3'
Posted On 2016-02-04