Incidental Mutation 'R2056:Frmd4b'
ID 228186
Institutional Source Beutler Lab
Gene Symbol Frmd4b
Ensembl Gene ENSMUSG00000030064
Gene Name FERM domain containing 4B
Synonyms GRSP1, 6030440G05Rik
MMRRC Submission 040061-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2056 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 97263828-97594502 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 97389448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032146] [ENSMUST00000032146] [ENSMUST00000032146] [ENSMUST00000113355] [ENSMUST00000113355] [ENSMUST00000113355] [ENSMUST00000113359] [ENSMUST00000113359] [ENSMUST00000113359] [ENSMUST00000124050] [ENSMUST00000124050] [ENSMUST00000124050] [ENSMUST00000124050] [ENSMUST00000124050] [ENSMUST00000124050]
AlphaFold Q920B0
Predicted Effect probably null
Transcript: ENSMUST00000032146
SMART Domains Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064

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 null
Transcript: ENSMUST00000032146
SMART Domains Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064

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 null
Transcript: ENSMUST00000032146
SMART Domains Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064

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 noncoding transcript
Transcript: ENSMUST00000113353
SMART Domains Protein: ENSMUSP00000108980
Gene: ENSMUSG00000030064

DomainStartEndE-ValueType
B41 55 260 7.4e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113355
SMART Domains Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064

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 null
Transcript: ENSMUST00000113355
SMART Domains Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064

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 null
Transcript: ENSMUST00000113355
SMART Domains Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064

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 null
Transcript: ENSMUST00000113359
SMART Domains Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064

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 probably null
Transcript: ENSMUST00000113359
SMART Domains Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064

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 probably null
Transcript: ENSMUST00000113359
SMART Domains Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064

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 probably null
Transcript: ENSMUST00000124050
SMART Domains Protein: ENSMUSP00000145240
Gene: ENSMUSG00000030064

DomainStartEndE-ValueType
Pfam:FERM_N 9 71 3.2e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124050
SMART Domains Protein: ENSMUSP00000145240
Gene: ENSMUSG00000030064

DomainStartEndE-ValueType
Pfam:FERM_N 9 71 3.2e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124050
SMART Domains Protein: ENSMUSP00000145240
Gene: ENSMUSG00000030064

DomainStartEndE-ValueType
Pfam:FERM_N 9 71 3.2e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124050
SMART Domains Protein: ENSMUSP00000145240
Gene: ENSMUSG00000030064

DomainStartEndE-ValueType
Pfam:FERM_N 9 71 3.2e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124050
SMART Domains Protein: ENSMUSP00000145240
Gene: ENSMUSG00000030064

DomainStartEndE-ValueType
Pfam:FERM_N 9 71 3.2e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124050
SMART Domains Protein: ENSMUSP00000145240
Gene: ENSMUSG00000030064

DomainStartEndE-ValueType
Pfam:FERM_N 9 71 3.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142589
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adh1 A G 3: 137,992,676 (GRCm39) D264G probably damaging Het
Ahnak2 T A 12: 112,748,626 (GRCm39) D407V probably benign Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Ankmy1 T C 1: 92,809,553 (GRCm39) I662V possibly damaging Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Apc A G 18: 34,449,481 (GRCm39) R2092G probably damaging Het
Arhgap18 C T 10: 26,730,904 (GRCm39) T122I probably benign Het
Atp2b4 G T 1: 133,654,275 (GRCm39) Q777K probably benign Het
Brap G A 5: 121,801,529 (GRCm39) G95S probably damaging Het
Cbfa2t2 G A 2: 154,377,077 (GRCm39) A587T probably damaging Het
Ccdc180 A G 4: 45,932,477 (GRCm39) I1308V probably benign Het
Ccser1 T A 6: 61,399,936 (GRCm39) probably null Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cmtm4 A C 8: 105,081,920 (GRCm39) F156V probably damaging Het
Cntln G A 4: 84,967,911 (GRCm39) R710K probably benign Het
Csn1s1 A T 5: 87,819,387 (GRCm39) T15S possibly damaging Het
Cul9 T C 17: 46,854,298 (GRCm39) T135A probably benign Het
Cyp2d10 T A 15: 82,288,015 (GRCm39) I363F probably damaging Het
Dhx38 G T 8: 110,289,352 (GRCm39) probably benign Het
Dis3 A T 14: 99,336,251 (GRCm39) I85N possibly damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dscaml1 A G 9: 45,661,430 (GRCm39) D1776G probably damaging Het
Erbin A G 13: 103,966,824 (GRCm39) S1209P probably benign Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Fbxo45 G T 16: 32,057,346 (GRCm39) Q183K possibly damaging Het
Fzd7 A G 1: 59,523,361 (GRCm39) S415G probably benign Het
Gpd2 T A 2: 57,229,025 (GRCm39) probably null Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Gstcd T C 3: 132,787,814 (GRCm39) I295V probably benign Het
Gucy1a1 A G 3: 82,016,592 (GRCm39) L132P possibly damaging Het
Il12b A C 11: 44,298,727 (GRCm39) T61P probably damaging Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Itih3 A C 14: 30,631,481 (GRCm39) probably null Het
Kdm5b T A 1: 134,540,952 (GRCm39) D681E probably benign Het
Kif11 A G 19: 37,390,660 (GRCm39) N408D probably benign Het
Kng2 TATGACCATGACCATGACCATGACCATGACCATGACCAT TATGACCATGACCATGACCATGACCATGACCAT 16: 22,806,703 (GRCm39) probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Krt9 G T 11: 100,082,321 (GRCm39) N201K probably damaging Het
Lmbr1 G A 5: 29,438,092 (GRCm39) P304L probably benign Het
Lrrfip1 A G 1: 91,043,539 (GRCm39) N648S probably benign Het
Mab21l3 C A 3: 101,722,469 (GRCm39) V386L possibly damaging Het
Mamdc4 T C 2: 25,454,180 (GRCm39) Q1149R probably benign Het
Mast1 A G 8: 85,646,995 (GRCm39) F677L possibly damaging Het
Mcoln3 A G 3: 145,833,979 (GRCm39) D173G probably benign Het
Mmrn1 C T 6: 60,921,789 (GRCm39) T82I probably benign Het
Mtcl2 C T 2: 156,864,747 (GRCm39) G1154S probably benign Het
Muc5ac A G 7: 141,345,772 (GRCm39) T203A probably benign Het
Myo9b T C 8: 71,812,334 (GRCm39) I2035T possibly damaging Het
Ndst3 T C 3: 123,465,534 (GRCm39) N146S probably damaging Het
Neu4 A G 1: 93,950,172 (GRCm39) T21A possibly damaging Het
Nos1ap G A 1: 170,155,215 (GRCm39) L267F probably damaging Het
Or14c40 A T 7: 86,313,591 (GRCm39) K240N probably damaging Het
Or3a4 A T 11: 73,944,819 (GRCm39) Y255* probably null Het
Or4p8 A G 2: 88,727,105 (GRCm39) F279L probably damaging Het
Phc1 T C 6: 122,310,299 (GRCm39) N136S probably damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Psd2 A G 18: 36,139,744 (GRCm39) D596G possibly damaging Het
Psmc3 T C 2: 90,888,433 (GRCm39) F315L probably benign Het
Rerg G A 6: 137,034,878 (GRCm39) T42I probably benign Het
Rif1 T A 2: 51,983,588 (GRCm39) M577K probably damaging Het
Sap30 T C 8: 57,940,282 (GRCm39) probably null Het
Scn2b T C 9: 45,036,815 (GRCm39) Y108H probably damaging Het
Senp2 C T 16: 21,832,949 (GRCm39) T79I probably damaging Het
Serpinb2 T C 1: 107,451,543 (GRCm39) V232A probably damaging Het
Sgpp2 T A 1: 78,393,588 (GRCm39) L197Q probably damaging Het
Slc27a4 T C 2: 29,700,953 (GRCm39) W320R probably damaging Het
Spmip4 T C 6: 50,550,725 (GRCm39) R575G possibly damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Thbs4 T A 13: 92,927,387 (GRCm39) D34V probably benign Het
Tlcd4 T G 3: 121,001,070 (GRCm39) I188L probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tmod2 T C 9: 75,484,524 (GRCm39) E248G probably benign Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ttn T C 2: 76,615,882 (GRCm39) D8360G possibly damaging Het
Unc80 A G 1: 66,679,711 (GRCm39) E2094G possibly damaging Het
Vmn2r18 A T 5: 151,508,160 (GRCm39) D321E 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
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
Predicted Primers PCR Primer
(F):5'- AGTCTTTGAGGAATAAAGCTGGATGC -3'
(R):5'- TGAGTGTTTCCAGGCAGCTG -3'

Sequencing Primer
(F):5'- GATGCTTCTCTCCTTTATCTTCAAAG -3'
(R):5'- GTGCCAGCACCGTGTGTTG -3'
Posted On 2014-09-17