Incidental Mutation 'R7050:Arhgef38'
ID 547517
Institutional Source Beutler Lab
Gene Symbol Arhgef38
Ensembl Gene ENSMUSG00000040969
Gene Name Rho guanine nucleotide exchange factor 38
Synonyms D630013G24Rik, 9130221D24Rik
MMRRC Submission 045241-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7050 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 132818039-132940710 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 132839388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000054558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054105] [ENSMUST00000147041]
AlphaFold Q80VK6
Predicted Effect probably benign
Transcript: ENSMUST00000054105
SMART Domains Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969

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 unknown
Transcript: ENSMUST00000147041
AA Change: S552G
SMART Domains Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: S552G

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 0.0728 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,864,544 (GRCm39) A346V possibly damaging Het
Adcy5 A T 16: 35,124,070 (GRCm39) M1250L possibly damaging Het
Ascc3 T A 10: 50,716,446 (GRCm39) I1944N probably benign Het
Cabin1 G T 10: 75,549,376 (GRCm39) P1343Q probably damaging Het
Cbr3 A T 16: 93,487,282 (GRCm39) Q155L possibly damaging Het
Cd44 A G 2: 102,644,482 (GRCm39) V577A probably damaging Het
Coil C T 11: 88,872,014 (GRCm39) T125I possibly damaging Het
Fmo3 T C 1: 162,791,473 (GRCm39) N268S probably damaging Het
Fnip2 T C 3: 79,413,577 (GRCm39) T248A probably damaging Het
Ggt7 G A 2: 155,348,295 (GRCm39) T43I probably benign Het
Gm3250 C A 10: 77,617,814 (GRCm39) C188F possibly damaging Het
Iqce G A 5: 140,651,846 (GRCm39) S375F possibly damaging Het
Iqgap3 A G 3: 88,006,220 (GRCm39) T544A probably damaging Het
Islr A G 9: 58,065,000 (GRCm39) L169P probably damaging Het
Kdr G T 5: 76,110,780 (GRCm39) T904N probably damaging Het
Mink1 A G 11: 70,503,158 (GRCm39) T974A possibly damaging Het
Mms19 A G 19: 41,939,185 (GRCm39) probably null Het
Mycl T C 4: 122,890,813 (GRCm39) probably null Het
Nab1 A T 1: 52,529,894 (GRCm39) M1K probably null Het
Naip6 C T 13: 100,452,007 (GRCm39) G202R probably damaging Het
Nbeal2 G A 9: 110,457,788 (GRCm39) S2159L probably damaging Het
Neb A T 2: 52,112,888 (GRCm39) M4302K possibly damaging Het
Npy1r A G 8: 67,157,192 (GRCm39) D204G probably benign Het
Or2q1 T A 6: 42,794,504 (GRCm39) V33D possibly damaging Het
Pkdcc T A 17: 83,523,073 (GRCm39) I60N possibly damaging Het
Plcxd3 T C 15: 4,546,200 (GRCm39) V68A probably damaging Het
Prss36 G T 7: 127,543,937 (GRCm39) R145S possibly damaging Het
Pygl C A 12: 70,266,396 (GRCm39) G40C probably damaging Het
Rev1 A G 1: 38,093,352 (GRCm39) L1064P probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serpina3k T C 12: 104,307,403 (GRCm39) F212L possibly damaging Het
Slc16a4 A T 3: 107,208,148 (GRCm39) E219D probably benign Het
Slc6a20b A T 9: 123,427,608 (GRCm39) W434R probably damaging Het
Slco1c1 T A 6: 141,493,652 (GRCm39) F278Y probably damaging Het
Tbx21 T G 11: 97,005,596 (GRCm39) D123A probably benign Het
Trp73 A G 4: 154,165,899 (GRCm39) F35L probably damaging Het
Tspan17 T C 13: 54,943,876 (GRCm39) V135A probably benign Het
Uba2 G A 7: 33,845,687 (GRCm39) Q479* probably null Het
Ubr2 A G 17: 47,272,528 (GRCm39) V889A probably benign Het
Unc80 A G 1: 66,590,067 (GRCm39) probably null Het
Vinac1 T C 2: 128,869,891 (GRCm39) probably null Het
Vmn1r45 A T 6: 89,910,703 (GRCm39) I89N probably damaging Het
Vmn2r11 A G 5: 109,202,657 (GRCm39) I140T probably benign Het
Yipf2 A T 9: 21,503,474 (GRCm39) D24E probably benign Het
Zfp251 T G 15: 76,738,496 (GRCm39) Q199P possibly damaging Het
Zfp37 A T 4: 62,109,908 (GRCm39) N385K possibly damaging Het
Zfp655 G A 5: 145,181,545 (GRCm39) E468K 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
R6648:Arhgef38 UTSW 3 132,838,236 (GRCm39) missense probably damaging 1.00
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'- GGGCTACACCGTATGATTTGTC -3'
(R):5'- AGCAGAGTCAATACCCAGAGTG -3'

Sequencing Primer
(F):5'- CAGCAAATCTGAGTATCCGCTGTG -3'
(R):5'- CCCAGAGTGATTGGTTATCTGAAAAC -3'
Posted On 2019-05-13