Incidental Mutation 'R6648:Arhgef38'
ID 524341
Institutional Source Beutler Lab
Gene Symbol Arhgef38
Ensembl Gene ENSMUSG00000040969
Gene Name Rho guanine nucleotide exchange factor 38
Synonyms D630013G24Rik, 9130221D24Rik
MMRRC Submission 044769-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6648 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 132818039-132940710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132838236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 600 (I600N)
Ref Sequence ENSEMBL: ENSMUSP00000114238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054105] [ENSMUST00000147041]
AlphaFold Q80VK6
Predicted Effect probably damaging
Transcript: ENSMUST00000054105
AA Change: I17N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969
AA Change: I17N

DomainStartEndE-ValueType
SH3 1 60 5.56e-1 SMART
low complexity region 95 106 N/A INTRINSIC
SH3 126 189 8.2e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000147041
AA Change: I600N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: I600N

DomainStartEndE-ValueType
low complexity region 34 49 N/A INTRINSIC
RhoGEF 98 284 2.72e-33 SMART
low complexity region 296 312 N/A INTRINSIC
BAR 315 514 4.8e-29 SMART
SH3 584 643 5.56e-1 SMART
low complexity region 678 689 N/A INTRINSIC
SH3 709 768 1.95e-10 SMART
Meta Mutation Damage Score 0.1789 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,490 (GRCm39) Y511H probably damaging Het
Cacna1g A T 11: 94,323,395 (GRCm39) C1270S probably damaging Het
Ccar2 T G 14: 70,376,674 (GRCm39) D890A probably benign Het
Cep76 A T 18: 67,752,804 (GRCm39) V548D probably benign Het
Chat T G 14: 32,176,651 (GRCm39) Q41P probably benign Het
Ddx24 T A 12: 103,374,634 (GRCm39) N850I probably benign Het
Dst A G 1: 34,301,122 (GRCm39) I5879V possibly damaging Het
Ece1 A G 4: 137,648,470 (GRCm39) T92A probably benign Het
Ecrg4 T A 1: 43,777,851 (GRCm39) F87I probably damaging Het
Fpgs G T 2: 32,574,799 (GRCm39) C439* probably null Het
H2-Q4 A T 17: 35,601,981 (GRCm39) E281V probably damaging Het
Hydin A G 8: 111,252,299 (GRCm39) probably null Het
Iqgap2 T C 13: 95,818,719 (GRCm39) E679G probably benign Het
Kif12 A T 4: 63,089,554 (GRCm39) probably null Het
Kif21b T C 1: 136,080,135 (GRCm39) V557A probably benign Het
Mki67 C G 7: 135,299,169 (GRCm39) S1955T probably damaging Het
Mybpc1 G A 10: 88,358,861 (GRCm39) T1110M probably damaging Het
Myh9 T C 15: 77,650,972 (GRCm39) H1625R probably benign Het
Nbeal2 G A 9: 110,466,710 (GRCm39) T704M probably damaging Het
Or1ad6 G A 11: 50,860,000 (GRCm39) D52N probably damaging Het
Or5a21 A T 19: 12,311,130 (GRCm39) M30K probably benign Het
Osbpl9 C A 4: 108,948,876 (GRCm39) Q91H possibly damaging Het
Pcsk5 A T 19: 17,553,185 (GRCm39) L665Q probably damaging Het
Pgm5 T C 19: 24,838,996 (GRCm39) D53G probably benign Het
Plcd4 A G 1: 74,591,172 (GRCm39) D189G probably benign Het
Plxnb1 A T 9: 108,933,398 (GRCm39) Q676L probably benign Het
Prss33 A G 17: 24,053,676 (GRCm39) S134P probably benign Het
Rln1 G T 19: 29,309,521 (GRCm39) T86K probably benign Het
Rnf213 G A 11: 119,370,746 (GRCm39) A4785T possibly damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sh3tc2 T C 18: 62,148,111 (GRCm39) C1274R probably benign Het
Slc35a5 A T 16: 44,964,280 (GRCm39) F318I probably damaging Het
Slc41a3 T C 6: 90,596,490 (GRCm39) F20L probably damaging Het
Socs4 T A 14: 47,527,633 (GRCm39) N189K probably benign Het
Tiam2 A T 17: 3,557,148 (GRCm39) E1196V probably damaging Het
Tmc3 T A 7: 83,246,751 (GRCm39) V164D probably damaging Het
Trim46 T C 3: 89,142,549 (GRCm39) E623G possibly damaging Het
Ubr4 C A 4: 139,180,030 (GRCm39) C3403* probably null Het
Vmn1r194 A T 13: 22,428,694 (GRCm39) T104S probably benign Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Zfp1002 T C 2: 150,097,097 (GRCm39) I111V probably benign Het
Zmynd11 T G 13: 9,763,057 (GRCm39) S95R probably benign Het
Zswim4 C A 8: 84,957,543 (GRCm39) R175L probably benign Het
Other mutations in Arhgef38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Arhgef38 APN 3 132,837,812 (GRCm39) missense probably benign 0.05
IGL00533:Arhgef38 APN 3 132,822,220 (GRCm39) nonsense probably null
IGL03031:Arhgef38 APN 3 132,837,828 (GRCm39) missense possibly damaging 0.90
F5770:Arhgef38 UTSW 3 132,855,301 (GRCm39) missense probably damaging 1.00
PIT4362001:Arhgef38 UTSW 3 132,866,591 (GRCm39) missense
R0050:Arhgef38 UTSW 3 132,837,957 (GRCm39) missense probably damaging 0.99
R0050:Arhgef38 UTSW 3 132,837,957 (GRCm39) missense probably damaging 0.99
R0076:Arhgef38 UTSW 3 132,866,507 (GRCm39) missense possibly damaging 0.52
R0515:Arhgef38 UTSW 3 132,855,301 (GRCm39) missense probably damaging 1.00
R0730:Arhgef38 UTSW 3 132,843,232 (GRCm39) missense probably benign 0.25
R0765:Arhgef38 UTSW 3 132,822,344 (GRCm39) missense probably damaging 1.00
R1054:Arhgef38 UTSW 3 132,822,226 (GRCm39) missense probably damaging 1.00
R1261:Arhgef38 UTSW 3 132,866,624 (GRCm39) missense possibly damaging 0.52
R1568:Arhgef38 UTSW 3 132,838,225 (GRCm39) missense probably damaging 0.98
R1580:Arhgef38 UTSW 3 132,839,465 (GRCm39) missense probably benign 0.24
R1716:Arhgef38 UTSW 3 132,846,598 (GRCm39) missense probably benign 0.35
R1875:Arhgef38 UTSW 3 132,839,501 (GRCm39) critical splice acceptor site probably null
R2118:Arhgef38 UTSW 3 132,866,514 (GRCm39) missense probably benign 0.31
R2119:Arhgef38 UTSW 3 132,866,514 (GRCm39) missense probably benign 0.31
R2122:Arhgef38 UTSW 3 132,866,514 (GRCm39) missense probably benign 0.31
R2417:Arhgef38 UTSW 3 132,852,234 (GRCm39) missense probably damaging 1.00
R3832:Arhgef38 UTSW 3 132,912,686 (GRCm39) missense possibly damaging 0.89
R4657:Arhgef38 UTSW 3 132,940,442 (GRCm39) missense probably damaging 1.00
R4666:Arhgef38 UTSW 3 132,846,533 (GRCm39) critical splice donor site probably null
R4732:Arhgef38 UTSW 3 132,838,030 (GRCm39) nonsense probably null
R4733:Arhgef38 UTSW 3 132,838,030 (GRCm39) nonsense probably null
R5059:Arhgef38 UTSW 3 132,843,175 (GRCm39) missense probably damaging 1.00
R5108:Arhgef38 UTSW 3 132,843,029 (GRCm39) missense probably benign 0.14
R5310:Arhgef38 UTSW 3 132,822,227 (GRCm39) missense probably damaging 0.98
R5820:Arhgef38 UTSW 3 132,866,560 (GRCm39) missense probably benign 0.44
R5987:Arhgef38 UTSW 3 132,912,719 (GRCm39) missense possibly damaging 0.67
R6115:Arhgef38 UTSW 3 132,838,374 (GRCm39) splice site probably null
R6313:Arhgef38 UTSW 3 132,940,469 (GRCm39) missense possibly damaging 0.80
R6339:Arhgef38 UTSW 3 132,839,423 (GRCm39) missense probably benign 0.35
R6356:Arhgef38 UTSW 3 132,846,638 (GRCm39) missense probably benign 0.01
R7050:Arhgef38 UTSW 3 132,839,388 (GRCm39) start gained probably benign
R7083:Arhgef38 UTSW 3 132,838,197 (GRCm39) missense unknown
R7561:Arhgef38 UTSW 3 132,866,489 (GRCm39) missense
R7769:Arhgef38 UTSW 3 132,855,383 (GRCm39) missense unknown
R8050:Arhgef38 UTSW 3 132,843,323 (GRCm39) nonsense probably null
R8471:Arhgef38 UTSW 3 132,940,472 (GRCm39) missense probably damaging 1.00
R8835:Arhgef38 UTSW 3 132,837,832 (GRCm39) missense unknown
R9151:Arhgef38 UTSW 3 132,912,706 (GRCm39) missense
R9154:Arhgef38 UTSW 3 132,837,924 (GRCm39) missense unknown
R9263:Arhgef38 UTSW 3 132,866,529 (GRCm39) missense
R9367:Arhgef38 UTSW 3 132,847,998 (GRCm39) missense unknown
R9628:Arhgef38 UTSW 3 132,838,025 (GRCm39) missense unknown
R9799:Arhgef38 UTSW 3 132,855,391 (GRCm39) missense unknown
Z1177:Arhgef38 UTSW 3 132,912,722 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCAGGGTTATGTGAGGGTAC -3'
(R):5'- AGCATCCACCTTGTCATGTATC -3'

Sequencing Primer
(F):5'- GGTACCATGCCCAAACACG -3'
(R):5'- ACCTTGTCATGTATCCAGATTGG -3'
Posted On 2018-06-22