Incidental Mutation 'R1144:Arhgef33'
ID102335
Institutional Source Beutler Lab
Gene Symbol Arhgef33
Ensembl Gene ENSMUSG00000054901
Gene NameRho guanine nucleotide exchange factor (GEF) 33
SynonymsLOC381112, Gm941
MMRRC Submission 039217-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #R1144 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location80307407-80400081 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80355044 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 219 (S219P)
Ref Sequence ENSEMBL: ENSMUSP00000153224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068175] [ENSMUST00000223878]
Predicted Effect probably benign
Transcript: ENSMUST00000068175
AA Change: S219P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063284
Gene: ENSMUSG00000054901
AA Change: S219P

DomainStartEndE-ValueType
coiled coil region 64 128 N/A INTRINSIC
low complexity region 129 149 N/A INTRINSIC
Pfam:RhoGEF 277 446 4.7e-16 PFAM
low complexity region 455 473 N/A INTRINSIC
low complexity region 510 520 N/A INTRINSIC
low complexity region 620 629 N/A INTRINSIC
low complexity region 751 770 N/A INTRINSIC
low complexity region 823 834 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223878
AA Change: S219P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225018
Meta Mutation Damage Score 0.078 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 120,360,860 probably benign Het
Abcc5 A T 16: 20,422,438 probably benign Het
Acsl5 A C 19: 55,291,843 D516A probably damaging Het
Adcy1 G A 11: 7,137,400 A425T probably damaging Het
Aebp1 A G 11: 5,868,475 T107A probably benign Het
Atm T G 9: 53,511,698 probably benign Het
C1ql2 A C 1: 120,342,537 Y276S probably damaging Het
Cacna2d1 T C 5: 16,322,597 probably null Het
Cmbl A G 15: 31,581,874 N6D probably benign Het
Cntn3 A G 6: 102,242,126 V511A possibly damaging Het
Coq9 C A 8: 94,842,623 R28S probably benign Het
Creld1 T C 6: 113,483,961 F20S probably benign Het
Dcstamp A G 15: 39,760,368 K404E possibly damaging Het
Dip2b T A 15: 100,154,250 I244K probably benign Het
Dnhd1 G A 7: 105,713,031 E3700K probably damaging Het
Dnmt3l T A 10: 78,051,905 C110S probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fgfr1 T G 8: 25,558,143 V172G probably damaging Het
Frem3 C A 8: 80,611,884 Q269K probably benign Het
Frmd6 C A 12: 70,877,168 H67N probably damaging Het
Fry A G 5: 150,418,464 T1532A possibly damaging Het
Git2 G T 5: 114,753,314 S243R probably benign Het
Grid1 A G 14: 35,562,676 probably benign Het
Grp A G 18: 65,879,970 D69G probably damaging Het
Hmbox1 A T 14: 64,825,683 L347Q probably damaging Het
Hrasls5 A G 19: 7,613,330 D74G probably benign Het
Hsh2d C T 8: 72,193,592 probably benign Het
Itpr3 G A 17: 27,114,923 S2018N probably benign Het
Kif13b T A 14: 64,714,117 V69D probably benign Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Lmcd1 T A 6: 112,310,751 probably benign Het
Megf9 C A 4: 70,534,624 A67S probably benign Het
Myo5b G A 18: 74,625,587 R213H probably damaging Het
Myo5c T A 9: 75,286,448 Y1162N probably damaging Het
Nphs1 A G 7: 30,481,678 probably benign Het
Ntrk1 G A 3: 87,781,542 T568I probably damaging Het
Pcmtd1 A G 1: 7,120,481 H58R probably damaging Het
Plxna4 A T 6: 32,197,156 I1168N possibly damaging Het
Ppm1h A G 10: 122,941,278 D483G probably benign Het
Prdm15 G A 16: 97,808,708 R579C probably damaging Het
Prickle1 T A 15: 93,512,461 R41W probably damaging Het
Rbm19 A G 5: 120,123,016 D235G possibly damaging Het
Smco2 A G 6: 146,871,140 probably benign Het
Sned1 G C 1: 93,280,576 G785R probably damaging Het
Stat4 A G 1: 52,084,129 probably benign Het
Syne2 T A 12: 75,966,524 F2830I probably benign Het
Tbc1d9 A G 8: 83,236,571 D304G possibly damaging Het
Thsd7a G A 6: 12,471,027 probably benign Het
Tmem63b T A 17: 45,666,427 K383N probably benign Het
Trp53rka C A 2: 165,493,041 probably benign Het
Trub1 G A 19: 57,485,131 V207M probably benign Het
Ulk2 A T 11: 61,800,060 C551S possibly damaging Het
Urb1 A T 16: 90,776,318 probably null Het
Vmn1r219 C A 13: 23,163,213 Q191K probably damaging Het
Vmn2r1 A T 3: 64,090,120 D399V probably damaging Het
Vmn2r87 A G 10: 130,476,229 probably benign Het
Wars A T 12: 108,888,365 L41* probably null Het
Washc2 G A 6: 116,224,534 E64K probably damaging Het
Washc4 G A 10: 83,580,330 R828Q probably damaging Het
Wdr59 A T 8: 111,486,944 M313K probably benign Het
Wscd2 G A 5: 113,561,090 probably null Het
Zdhhc20 A C 14: 57,856,678 L176V probably benign Het
Other mutations in Arhgef33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Arhgef33 APN 17 80368230 missense probably benign 0.33
IGL00784:Arhgef33 APN 17 80368230 missense probably benign 0.33
IGL01601:Arhgef33 APN 17 80347683 missense probably damaging 1.00
IGL01647:Arhgef33 APN 17 80365266 splice site probably benign
IGL02654:Arhgef33 APN 17 80370311 missense probably damaging 1.00
IGL02712:Arhgef33 APN 17 80360373 missense probably damaging 1.00
R0195:Arhgef33 UTSW 17 80381434 missense probably damaging 0.96
R0732:Arhgef33 UTSW 17 80381354 missense possibly damaging 0.90
R0834:Arhgef33 UTSW 17 80347597 splice site probably benign
R1465:Arhgef33 UTSW 17 80367301 missense possibly damaging 0.88
R1465:Arhgef33 UTSW 17 80367301 missense possibly damaging 0.88
R1513:Arhgef33 UTSW 17 80371389 missense probably benign
R1680:Arhgef33 UTSW 17 80347651 missense probably damaging 0.96
R1696:Arhgef33 UTSW 17 80349506 missense probably damaging 1.00
R1775:Arhgef33 UTSW 17 80373743 missense probably benign 0.05
R2046:Arhgef33 UTSW 17 80373466 missense probably benign 0.08
R3933:Arhgef33 UTSW 17 80373320 missense probably benign 0.01
R4573:Arhgef33 UTSW 17 80365282 missense probably damaging 1.00
R5222:Arhgef33 UTSW 17 80337314 missense probably damaging 1.00
R5269:Arhgef33 UTSW 17 80370275 missense probably damaging 1.00
R5933:Arhgef33 UTSW 17 80337280 missense probably benign
R6460:Arhgef33 UTSW 17 80349589 splice site probably null
Predicted Primers
Posted On2014-01-15