Incidental Mutation 'R7307:Arhgef33'
ID 567352
Institutional Source Beutler Lab
Gene Symbol Arhgef33
Ensembl Gene ENSMUSG00000054901
Gene Name Rho guanine nucleotide exchange factor 33
Synonyms LOC381112, Gm941
MMRRC Submission 045366-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7307 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80614836-80707510 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to C at 80654549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000063284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068175] [ENSMUST00000068175] [ENSMUST00000223878] [ENSMUST00000223878] [ENSMUST00000224391] [ENSMUST00000224391]
AlphaFold Q8BW86
Predicted Effect probably null
Transcript: ENSMUST00000068175
SMART Domains Protein: ENSMUSP00000063284
Gene: ENSMUSG00000054901

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 null
Transcript: ENSMUST00000068175
SMART Domains Protein: ENSMUSP00000063284
Gene: ENSMUSG00000054901

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 null
Transcript: ENSMUST00000223878
Predicted Effect probably null
Transcript: ENSMUST00000223878
Predicted Effect probably null
Transcript: ENSMUST00000224391
Predicted Effect probably null
Transcript: ENSMUST00000224391
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 16,936,259 (GRCm39) P155L probably benign Het
Adamts12 G T 15: 11,217,899 (GRCm39) L285F probably damaging Het
Ankrd6 A T 4: 32,816,949 (GRCm39) Y393N possibly damaging Het
Arhgap45 A G 10: 79,865,016 (GRCm39) Q993R probably benign Het
B4galnt3 T C 6: 120,192,392 (GRCm39) D448G probably benign Het
Capn1 C G 19: 6,043,938 (GRCm39) E564D possibly damaging Het
Ccdc85a A G 11: 28,349,384 (GRCm39) S474P probably benign Het
Cdk12 T A 11: 98,140,626 (GRCm39) L1289* probably null Het
Cramp1 A T 17: 25,193,719 (GRCm39) N920K possibly damaging Het
Cubn C T 2: 13,345,143 (GRCm39) S2091N probably damaging Het
Ddx1 A T 12: 13,273,960 (GRCm39) I581N probably damaging Het
Dnm2 A T 9: 21,396,983 (GRCm39) N487Y probably damaging Het
Enc1 A C 13: 97,381,601 (GRCm39) N37T probably damaging Het
Ephb3 T G 16: 21,040,976 (GRCm39) I932S probably benign Het
Frk T A 10: 34,467,934 (GRCm39) M316K probably damaging Het
Gdap2 C T 3: 100,109,349 (GRCm39) R25C unknown Het
Gpat2 T A 2: 127,276,810 (GRCm39) D671E probably damaging Het
Gpr179 C T 11: 97,229,672 (GRCm39) E828K probably benign Het
Greb1l T C 18: 10,538,142 (GRCm39) Y1052H probably damaging Het
Gtf2f1 C T 17: 57,314,833 (GRCm39) S69N probably damaging Het
Hid1 A C 11: 115,239,308 (GRCm39) I785S probably damaging Het
Hmcn2 T C 2: 31,233,093 (GRCm39) I214T probably damaging Het
Hsd3b5 G T 3: 98,527,085 (GRCm39) F120L probably damaging Het
Kif16b C T 2: 142,554,851 (GRCm39) R649Q probably benign Het
Kif17 A T 4: 137,989,954 (GRCm39) E47D probably benign Het
Kmt2b T C 7: 30,279,896 (GRCm39) H1368R probably damaging Het
Kmt2d A T 15: 98,747,299 (GRCm39) S3342T unknown Het
Krt82 A G 15: 101,451,342 (GRCm39) C356R probably damaging Het
Lrit2 A G 14: 36,794,156 (GRCm39) K407E probably benign Het
Malt1 T A 18: 65,584,640 (GRCm39) H325Q possibly damaging Het
Mccc2 T G 13: 100,125,108 (GRCm39) D187A possibly damaging Het
Mgll T A 6: 88,791,103 (GRCm39) probably null Het
Mindy2 T G 9: 70,518,241 (GRCm39) E449A possibly damaging Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Nlrp4e A G 7: 23,020,953 (GRCm39) E480G probably benign Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Or13a26 G A 7: 140,285,060 (GRCm39) V299I probably benign Het
Or1j4 G A 2: 36,740,137 (GRCm39) M26I probably benign Het
Or4g7 A T 2: 111,309,105 (GRCm39) probably benign Het
Or52a20 G T 7: 103,366,173 (GRCm39) R124L probably damaging Het
Pcdhb6 A T 18: 37,468,531 (GRCm39) H484L probably benign Het
Phldb1 T C 9: 44,605,344 (GRCm39) T604A possibly damaging Het
Pitpnm3 G T 11: 71,961,790 (GRCm39) A275D probably damaging Het
Polr2a A T 11: 69,638,118 (GRCm39) probably null Het
Polr3a A G 14: 24,510,055 (GRCm39) C960R probably benign Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Pramel11 A C 4: 143,623,345 (GRCm39) Y276* probably null Het
Pramel51 A C 12: 88,148,519 (GRCm39) C32W probably damaging Het
Psmc4 A G 7: 27,742,085 (GRCm39) V303A probably benign Het
Ptdss2 A G 7: 140,731,645 (GRCm39) N151S possibly damaging Het
Ptprk T A 10: 28,465,004 (GRCm39) Y1295* probably null Het
Rbm19 A G 5: 120,324,283 (GRCm39) K881E possibly damaging Het
Rcan2 T A 17: 44,331,993 (GRCm39) Y183* probably null Het
Rnd1 T C 15: 98,568,680 (GRCm39) E166G probably damaging Het
Rnf113a2 T A 12: 84,464,953 (GRCm39) C282S probably damaging Het
S100b G A 10: 76,092,926 (GRCm39) G20R probably benign Het
Sae1 G T 7: 16,102,469 (GRCm39) Y168* probably null Het
Samd9l C A 6: 3,372,600 (GRCm39) G1554* probably null Het
Samhd1 T C 2: 156,976,940 (GRCm39) S55G probably benign Het
Sgsm1 T C 5: 113,421,512 (GRCm39) D525G probably benign Het
Slc28a3 A T 13: 58,710,986 (GRCm39) M512K probably damaging Het
Slc9b2 T A 3: 135,024,151 (GRCm39) N67K probably benign Het
Smarca4 T A 9: 21,550,096 (GRCm39) I402N probably damaging Het
St7l T C 3: 104,796,669 (GRCm39) F261L probably benign Het
Syde2 T A 3: 145,721,553 (GRCm39) V1140D probably damaging Het
Syt6 T A 3: 103,494,788 (GRCm39) I251N probably damaging Het
Taok2 T C 7: 126,465,990 (GRCm39) E916G probably damaging Het
Tecta A G 9: 42,289,288 (GRCm39) S426P probably damaging Het
Thra T C 11: 98,655,134 (GRCm39) I338T probably damaging Het
Trub1 A T 19: 57,461,135 (GRCm39) Y137F probably damaging Het
Vps13b T C 15: 35,841,691 (GRCm39) F2574L probably benign Het
Ythdf3 T C 3: 16,237,664 (GRCm39) S2P possibly damaging Het
Zc3h13 T A 14: 75,567,981 (GRCm39) D1091E probably damaging Het
Zdhhc6 A G 19: 55,301,682 (GRCm39) Y100H probably damaging Het
Other mutations in Arhgef33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Arhgef33 APN 17 80,675,659 (GRCm39) missense probably benign 0.33
IGL00784:Arhgef33 APN 17 80,675,659 (GRCm39) missense probably benign 0.33
IGL01601:Arhgef33 APN 17 80,655,112 (GRCm39) missense probably damaging 1.00
IGL01647:Arhgef33 APN 17 80,672,695 (GRCm39) splice site probably benign
IGL02654:Arhgef33 APN 17 80,677,740 (GRCm39) missense probably damaging 1.00
IGL02712:Arhgef33 APN 17 80,667,802 (GRCm39) missense probably damaging 1.00
R0195:Arhgef33 UTSW 17 80,688,863 (GRCm39) missense probably damaging 0.96
R0732:Arhgef33 UTSW 17 80,688,783 (GRCm39) missense possibly damaging 0.90
R0834:Arhgef33 UTSW 17 80,655,026 (GRCm39) splice site probably benign
R1144:Arhgef33 UTSW 17 80,662,473 (GRCm39) missense probably benign
R1465:Arhgef33 UTSW 17 80,674,730 (GRCm39) missense possibly damaging 0.88
R1465:Arhgef33 UTSW 17 80,674,730 (GRCm39) missense possibly damaging 0.88
R1513:Arhgef33 UTSW 17 80,678,818 (GRCm39) missense probably benign
R1680:Arhgef33 UTSW 17 80,655,080 (GRCm39) missense probably damaging 0.96
R1696:Arhgef33 UTSW 17 80,656,935 (GRCm39) missense probably damaging 1.00
R1775:Arhgef33 UTSW 17 80,681,172 (GRCm39) missense probably benign 0.05
R2046:Arhgef33 UTSW 17 80,680,895 (GRCm39) missense probably benign 0.08
R3933:Arhgef33 UTSW 17 80,680,749 (GRCm39) missense probably benign 0.01
R4573:Arhgef33 UTSW 17 80,672,711 (GRCm39) missense probably damaging 1.00
R5222:Arhgef33 UTSW 17 80,644,743 (GRCm39) missense probably damaging 1.00
R5269:Arhgef33 UTSW 17 80,677,704 (GRCm39) missense probably damaging 1.00
R5933:Arhgef33 UTSW 17 80,644,709 (GRCm39) missense probably benign
R6460:Arhgef33 UTSW 17 80,657,018 (GRCm39) splice site probably null
R7594:Arhgef33 UTSW 17 80,677,734 (GRCm39) missense probably damaging 1.00
R7746:Arhgef33 UTSW 17 80,654,549 (GRCm39) critical splice acceptor site probably null
R7895:Arhgef33 UTSW 17 80,680,914 (GRCm39) missense probably benign 0.00
R7956:Arhgef33 UTSW 17 80,662,477 (GRCm39) missense possibly damaging 0.81
R8508:Arhgef33 UTSW 17 80,674,764 (GRCm39) missense probably damaging 1.00
R8688:Arhgef33 UTSW 17 80,680,615 (GRCm39) missense probably damaging 0.96
R8743:Arhgef33 UTSW 17 80,667,882 (GRCm39) critical splice donor site probably null
R8768:Arhgef33 UTSW 17 80,681,148 (GRCm39) missense possibly damaging 0.53
R9322:Arhgef33 UTSW 17 80,677,818 (GRCm39) nonsense probably null
R9349:Arhgef33 UTSW 17 80,644,736 (GRCm39) nonsense probably null
R9625:Arhgef33 UTSW 17 80,654,707 (GRCm39) missense possibly damaging 0.95
R9727:Arhgef33 UTSW 17 80,678,720 (GRCm39) missense probably damaging 1.00
Z1177:Arhgef33 UTSW 17 80,691,659 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGGTCAAGCTTCAGTGCAC -3'
(R):5'- GGAAATAAGAGAGGCTCCCACC -3'

Sequencing Primer
(F):5'- ACCTCTGCCCTGGACGAATAG -3'
(R):5'- GGCTCCCACCTTGAAGTAGTTTAATG -3'
Posted On 2019-06-26