Incidental Mutation 'PIT4362001:Arhgef38'
ID 554609
Institutional Source Beutler Lab
Gene Symbol Arhgef38
Ensembl Gene ENSMUSG00000040969
Gene Name Rho guanine nucleotide exchange factor 38
Synonyms D630013G24Rik, 9130221D24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4362001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 132818039-132940710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132866591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 182 (D182V)
Ref Sequence ENSEMBL: ENSMUSP00000124280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000147041] [ENSMUST00000161022]
AlphaFold Q80VK6
Predicted Effect
SMART Domains Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: D182V

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
Predicted Effect
SMART Domains Protein: ENSMUSP00000124280
Gene: ENSMUSG00000040969
AA Change: D182V

DomainStartEndE-ValueType
low complexity region 34 49 N/A INTRINSIC
Pfam:RhoGEF 98 219 2e-24 PFAM
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.2%
  • 10x: 87.0%
  • 20x: 78.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,283,398 (GRCm39) S28P possibly damaging Het
Akr1c14 T C 13: 4,129,100 (GRCm39) V165A probably damaging Het
Aox1 A T 1: 58,321,839 (GRCm39) T44S probably damaging Het
Arhgap29 T A 3: 121,796,861 (GRCm39) N482K probably benign Het
Atad5 C T 11: 80,002,393 (GRCm39) H1062Y probably benign Het
Atp6v0b A G 4: 117,742,453 (GRCm39) S147P possibly damaging Het
Cblb T A 16: 51,959,905 (GRCm39) Y299* probably null Het
Ccdc28b T C 4: 129,514,818 (GRCm39) N97S probably benign Het
Cdh23 A G 10: 60,301,237 (GRCm39) V479A probably benign Het
Chuk A G 19: 44,087,022 (GRCm39) probably null Het
Cmtr2 G A 8: 110,948,968 (GRCm39) G426D probably damaging Het
Cog4 G A 8: 111,593,304 (GRCm39) D472N probably damaging Het
Creb3 T A 4: 43,565,472 (GRCm39) L193* probably null Het
Cxcr6 A T 9: 123,639,526 (GRCm39) I183F probably benign Het
Dbf4 A G 5: 8,453,664 (GRCm39) F253L probably benign Het
Dcaf8 T C 1: 172,000,364 (GRCm39) V174A probably damaging Het
Ddhd2 T C 8: 26,225,779 (GRCm39) Y526C probably damaging Het
Dnal4 A G 15: 79,647,766 (GRCm39) V33A probably benign Het
Egfl7 C T 2: 26,481,052 (GRCm39) P188L probably benign Het
Ephb3 A G 16: 21,039,607 (GRCm39) E707G probably damaging Het
Epn3 C T 11: 94,387,349 (GRCm39) R7H probably damaging Het
Fbp1 T A 13: 63,015,194 (GRCm39) I262F probably damaging Het
Fgfbp3 G A 19: 36,896,088 (GRCm39) R177* probably null Het
Gask1b C A 3: 79,794,246 (GRCm39) S238Y possibly damaging Het
Gbp5 T C 3: 142,206,471 (GRCm39) S52P probably damaging Het
Glb1l2 A T 9: 26,685,277 (GRCm39) S282T probably benign Het
Glg1 A T 8: 111,985,431 (GRCm39) V133E possibly damaging Het
Gm4787 T G 12: 81,423,949 (GRCm39) L736F probably benign Het
Gm5565 A T 5: 146,095,109 (GRCm39) S212R probably benign Het
Grin2c T C 11: 115,140,459 (GRCm39) T1220A probably benign Het
Grp T G 18: 66,019,297 (GRCm39) S133A probably benign Het
Gstp2 C A 19: 4,090,713 (GRCm39) D147Y possibly damaging Het
Igkv14-130 T C 6: 67,768,392 (GRCm39) F84L probably damaging Het
Inppl1 T C 7: 101,475,220 (GRCm39) R944G probably benign Het
Lama2 A T 10: 27,245,132 (GRCm39) N216K probably damaging Het
Lrp2 T A 2: 69,367,882 (GRCm39) D210V probably damaging Het
Lrrc2 A T 9: 110,791,608 (GRCm39) Q120L possibly damaging Het
Lrriq1 A G 10: 102,907,055 (GRCm39) I1555T probably benign Het
Map2 G A 1: 66,451,677 (GRCm39) G189D probably benign Het
Mdc1 A G 17: 36,155,361 (GRCm39) E12G possibly damaging Het
Mdga2 T C 12: 66,844,542 (GRCm39) D152G possibly damaging Het
Med23 A G 10: 24,750,469 (GRCm39) M99V probably benign Het
Mutyh G A 4: 116,674,267 (GRCm39) V273M probably damaging Het
Neurod2 T A 11: 98,218,708 (GRCm39) Y152F probably damaging Het
Or5d3 C T 2: 88,174,357 (GRCm39) A247T probably benign Het
Or5g25 A C 2: 85,478,068 (GRCm39) L199R probably damaging Het
Or8c20 G T 9: 38,260,494 (GRCm39) L32F probably benign Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pde6b T C 5: 108,571,451 (GRCm39) probably null Het
Pdzrn4 A T 15: 92,667,762 (GRCm39) D638V possibly damaging Het
Polr1b A G 2: 128,951,212 (GRCm39) D275G possibly damaging Het
Rnf157 T A 11: 116,251,143 (GRCm39) D127V probably damaging Het
Rspo4 T A 2: 151,709,803 (GRCm39) C69* probably null Het
Scara3 T C 14: 66,173,851 (GRCm39) T63A probably benign Het
Scn2a G A 2: 65,514,182 (GRCm39) E289K probably benign Het
Sh3gl2 A G 4: 85,295,786 (GRCm39) T163A probably benign Het
Slc2a10 T A 2: 165,358,213 (GRCm39) F446Y probably damaging Het
Snapc1 C T 12: 74,029,269 (GRCm39) R351C probably damaging Het
Snx6 A G 12: 54,814,815 (GRCm39) Y169H possibly damaging Het
Stab2 A T 10: 86,697,299 (GRCm39) C1996* probably null Het
Steap4 A G 5: 8,030,337 (GRCm39) T398A probably benign Het
Tep1 A T 14: 51,103,510 (GRCm39) L260Q probably benign Het
Tspan12 A T 6: 21,835,463 (GRCm39) V70D possibly damaging Het
Ttn G A 2: 76,569,362 (GRCm39) A27177V probably damaging Het
Ube3a T C 7: 58,925,870 (GRCm39) V237A possibly damaging Het
Vil1 G A 1: 74,460,542 (GRCm39) R233H probably damaging Het
Xrcc5 A G 1: 72,433,088 (GRCm39) T716A probably benign Het
Zbp1 A G 2: 173,058,783 (GRCm39) I18T probably damaging Het
Zfp292 A G 4: 34,807,524 (GRCm39) V1845A probably benign Het
Zfp407 A T 18: 84,579,393 (GRCm39) N573K possibly damaging Het
Zfp64 T C 2: 168,767,735 (GRCm39) T626A 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
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
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'- CTGTAAAATGTTGGCTATGTGTGAC -3'
(R):5'- CTATCCACTCGGTGTCTAGCAC -3'

Sequencing Primer
(F):5'- ATCCTGGTCCATTGCAGAAG -3'
(R):5'- GCACACTTTCCAAATAATCTGGG -3'
Posted On 2019-06-07