Incidental Mutation 'R5963:Garem1'
ID 471911
Institutional Source Beutler Lab
Gene Symbol Garem1
Ensembl Gene ENSMUSG00000042680
Gene Name GRB2 associated regulator of MAPK1 subtype 1
Synonyms Garem, Fam59a, LOC381126
MMRRC Submission 044148-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R5963 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 21127201-21300138 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21129430 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 776 (I776F)
Ref Sequence ENSEMBL: ENSMUSP00000048914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049260]
AlphaFold Q3UFT3
Predicted Effect probably benign
Transcript: ENSMUST00000049260
AA Change: I776F

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048914
Gene: ENSMUSG00000042680
AA Change: I776F

DomainStartEndE-ValueType
Pfam:CABIT 32 318 3.4e-79 PFAM
low complexity region 484 499 N/A INTRINSIC
low complexity region 512 518 N/A INTRINSIC
PDB:2DKZ|A 795 874 2e-40 PDB
Blast:SAM 808 875 2e-36 BLAST
SCOP:d1kw4a_ 812 873 4e-4 SMART
Meta Mutation Damage Score 0.0614 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 A G 7: 97,379,830 (GRCm38) K131E probably benign Het
Ank3 T A 10: 69,987,226 (GRCm38) L575* probably null Het
Aqr T C 2: 114,126,961 (GRCm38) T819A probably damaging Het
Bbs2 A T 8: 94,081,031 (GRCm38) S407T probably benign Het
Bmper T A 9: 23,375,593 (GRCm38) C272S probably benign Het
Btbd9 C T 17: 30,334,218 (GRCm38) probably null Het
C5ar1 A G 7: 16,248,822 (GRCm38) V91A possibly damaging Het
Ccdc138 A G 10: 58,575,757 (GRCm38) H649R possibly damaging Het
Cfap43 A T 19: 47,745,574 (GRCm38) V1451E probably benign Het
Cfap46 T A 7: 139,651,595 (GRCm38) M901L probably damaging Het
Cherp G T 8: 72,461,535 (GRCm38) probably benign Het
D430041D05Rik C T 2: 104,248,285 (GRCm38) V1229I possibly damaging Het
Fat4 A C 3: 39,010,547 (GRCm38) D4884A probably damaging Het
Fcrl5 T C 3: 87,444,173 (GRCm38) F243L probably damaging Het
Gpr87 T A 3: 59,179,269 (GRCm38) R272* probably null Het
Gsdmc A T 15: 63,780,116 (GRCm38) probably null Het
Hydin T A 8: 110,494,294 (GRCm38) F1441I possibly damaging Het
Ints11 T A 4: 155,872,912 (GRCm38) C63* probably null Het
Kdm4b A T 17: 56,399,732 (GRCm38) T908S probably damaging Het
Lipn A G 19: 34,081,300 (GRCm38) D304G probably damaging Het
Man2a1 T G 17: 64,675,122 (GRCm38) N544K probably benign Het
Mapkapk5 G T 5: 121,538,481 (GRCm38) H66N probably damaging Het
Mog G A 17: 37,012,348 (GRCm38) R233* probably null Het
Mrps24 A T 11: 5,707,481 (GRCm38) probably benign Het
Nom1 T C 5: 29,437,770 (GRCm38) L423P probably damaging Het
Or51b6 T A 7: 103,906,961 (GRCm38) V174E probably benign Het
Pcdha1 T A 18: 36,931,171 (GRCm38) V296E probably damaging Het
Pdcd2 G T 17: 15,526,395 (GRCm38) H167Q probably damaging Het
Pdcd2 T C 17: 15,526,394 (GRCm38) K168E possibly damaging Het
Pla2g12b T A 10: 59,403,958 (GRCm38) V63D probably damaging Het
Pnn C T 12: 59,067,831 (GRCm38) R56* probably null Het
Primpol T A 8: 46,593,580 (GRCm38) E227V possibly damaging Het
Rad54l A T 4: 116,110,387 (GRCm38) W233R probably damaging Het
Rims2 A T 15: 39,437,182 (GRCm38) D103V probably damaging Het
Rttn T C 18: 89,073,695 (GRCm38) S1511P probably benign Het
Septin5 T C 16: 18,624,212 (GRCm38) probably null Het
Simc1 T A 13: 54,525,819 (GRCm38) I660K possibly damaging Het
Slc15a5 A G 6: 138,079,693 (GRCm38) L75P probably damaging Het
Slc9a2 A G 1: 40,682,036 (GRCm38) S55G possibly damaging Het
Slit3 C T 11: 35,700,236 (GRCm38) R1292C probably damaging Het
Slitrk3 A G 3: 73,050,713 (GRCm38) V242A probably benign Het
St14 A T 9: 31,106,557 (GRCm38) probably benign Het
Tnnt2 T C 1: 135,843,862 (GRCm38) probably benign Het
Traf5 G A 1: 192,000,016 (GRCm38) T288I probably benign Het
Trerf1 C T 17: 47,314,337 (GRCm38) noncoding transcript Het
Vegfc A G 8: 54,181,284 (GRCm38) N333D probably benign Het
Vmn1r65 T A 7: 6,008,609 (GRCm38) I209F probably damaging Het
Vps51 A G 19: 6,068,290 (GRCm38) L725P probably damaging Het
Vps8 T C 16: 21,470,121 (GRCm38) I408T possibly damaging Het
Wdr72 T C 9: 74,145,028 (GRCm38) Y114H probably damaging Het
Ybx2 A G 11: 69,941,092 (GRCm38) E164G probably damaging Het
Zcchc14 A T 8: 121,628,623 (GRCm38) probably benign Het
Zfp383 A G 7: 29,915,678 (GRCm38) T453A possibly damaging Het
Zfp84 G T 7: 29,776,953 (GRCm38) G357C probably damaging Het
Zmynd11 G T 13: 9,695,895 (GRCm38) probably benign Het
Other mutations in Garem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Garem1 APN 18 21,148,657 (GRCm38) missense probably damaging 1.00
IGL01588:Garem1 APN 18 21,129,797 (GRCm38) missense probably damaging 0.99
IGL02171:Garem1 APN 18 21,129,241 (GRCm38) missense probably damaging 0.98
IGL02270:Garem1 APN 18 21,148,450 (GRCm38) missense probably damaging 1.00
IGL03149:Garem1 APN 18 21,131,466 (GRCm38) missense probably damaging 1.00
R0136:Garem1 UTSW 18 21,129,991 (GRCm38) missense probably damaging 0.96
R0285:Garem1 UTSW 18 21,129,612 (GRCm38) missense probably benign
R0361:Garem1 UTSW 18 21,299,744 (GRCm38) nonsense probably null
R1068:Garem1 UTSW 18 21,168,755 (GRCm38) missense probably benign 0.00
R1537:Garem1 UTSW 18 21,168,874 (GRCm38) splice site probably null
R1726:Garem1 UTSW 18 21,148,262 (GRCm38) missense probably damaging 0.99
R1826:Garem1 UTSW 18 21,129,452 (GRCm38) missense probably benign 0.00
R2140:Garem1 UTSW 18 21,129,374 (GRCm38) missense probably damaging 1.00
R3714:Garem1 UTSW 18 21,148,890 (GRCm38) missense probably damaging 1.00
R3937:Garem1 UTSW 18 21,148,806 (GRCm38) nonsense probably null
R4362:Garem1 UTSW 18 21,236,115 (GRCm38) missense possibly damaging 0.62
R4441:Garem1 UTSW 18 21,168,750 (GRCm38) missense possibly damaging 0.92
R4747:Garem1 UTSW 18 21,129,943 (GRCm38) missense probably benign
R4814:Garem1 UTSW 18 21,148,116 (GRCm38) missense probably damaging 1.00
R4831:Garem1 UTSW 18 21,129,768 (GRCm38) missense probably benign 0.01
R4838:Garem1 UTSW 18 21,147,893 (GRCm38) missense probably benign 0.00
R5805:Garem1 UTSW 18 21,148,435 (GRCm38) missense probably benign 0.04
R5982:Garem1 UTSW 18 21,148,351 (GRCm38) missense possibly damaging 0.64
R6134:Garem1 UTSW 18 21,129,824 (GRCm38) missense probably benign 0.00
R6242:Garem1 UTSW 18 21,129,172 (GRCm38) missense possibly damaging 0.72
R6453:Garem1 UTSW 18 21,148,739 (GRCm38) missense probably damaging 0.99
R6485:Garem1 UTSW 18 21,129,837 (GRCm38) missense probably benign 0.00
R6596:Garem1 UTSW 18 21,148,739 (GRCm38) missense probably damaging 0.99
R6662:Garem1 UTSW 18 21,148,247 (GRCm38) missense probably benign 0.45
R6883:Garem1 UTSW 18 21,129,712 (GRCm38) missense probably benign
R6937:Garem1 UTSW 18 21,147,770 (GRCm38) missense probably benign 0.00
R7027:Garem1 UTSW 18 21,129,994 (GRCm38) missense probably benign
R7256:Garem1 UTSW 18 21,148,754 (GRCm38) missense probably damaging 1.00
R7534:Garem1 UTSW 18 21,299,916 (GRCm38) start gained probably benign
R7620:Garem1 UTSW 18 21,129,841 (GRCm38) missense probably benign
R7869:Garem1 UTSW 18 21,299,700 (GRCm38) missense probably damaging 1.00
R7963:Garem1 UTSW 18 21,148,787 (GRCm38) missense probably damaging 0.98
R8058:Garem1 UTSW 18 21,148,564 (GRCm38) missense probably damaging 1.00
R8953:Garem1 UTSW 18 21,131,331 (GRCm38) critical splice donor site probably null
R9273:Garem1 UTSW 18 21,148,217 (GRCm38) missense probably damaging 0.99
R9411:Garem1 UTSW 18 21,236,000 (GRCm38) critical splice donor site probably null
R9475:Garem1 UTSW 18 21,148,313 (GRCm38) missense probably benign 0.00
R9789:Garem1 UTSW 18 21,129,928 (GRCm38) missense possibly damaging 0.81
Z1176:Garem1 UTSW 18 21,148,325 (GRCm38) missense probably damaging 1.00
Z1176:Garem1 UTSW 18 21,129,792 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCAGTGACAAAGAAGGCTATGAC -3'
(R):5'- GAGAACTCCGAGGACAACTC -3'

Sequencing Primer
(F):5'- AAGGCTATGACGTCTTCAGAC -3'
(R):5'- AGGACAACTCCTTTGCAGCTG -3'
Posted On 2017-03-31