Incidental Mutation 'R6229:Arhgef40'
ID 504581
Institutional Source Beutler Lab
Gene Symbol Arhgef40
Ensembl Gene ENSMUSG00000004562
Gene Name Rho guanine nucleotide exchange factor 40
Synonyms E130112L23Rik
MMRRC Submission 044358-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R6229 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 52222176-52243708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52227547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 431 (Q431L)
Ref Sequence ENSEMBL: ENSMUSP00000138354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093813] [ENSMUST00000100639] [ENSMUST00000182061] [ENSMUST00000182193] [ENSMUST00000182338] [ENSMUST00000182760] [ENSMUST00000182905] [ENSMUST00000183208] [ENSMUST00000182909] [ENSMUST00000182649]
AlphaFold Q3UPH7
Predicted Effect probably benign
Transcript: ENSMUST00000093813
AA Change: Q494L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: Q494L

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
Pfam:RhoGEF 1087 1246 6.1e-9 PFAM
PH 1264 1372 3.97e-8 SMART
low complexity region 1403 1424 N/A INTRINSIC
low complexity region 1478 1491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100639
AA Change: Q494L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: Q494L

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
Pfam:RhoGEF 1087 1246 5.9e-9 PFAM
PH 1264 1372 3.97e-8 SMART
low complexity region 1430 1443 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182019
Predicted Effect probably benign
Transcript: ENSMUST00000182061
AA Change: Q494L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: Q494L

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
Pfam:RhoGEF 1087 1247 3.7e-9 PFAM
PH 1264 1372 3.97e-8 SMART
low complexity region 1430 1443 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182193
Predicted Effect probably benign
Transcript: ENSMUST00000182338
SMART Domains Protein: ENSMUSP00000138482
Gene: ENSMUSG00000004562

DomainStartEndE-ValueType
low complexity region 72 85 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182760
AA Change: Q494L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: Q494L

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 782 801 N/A INTRINSIC
low complexity region 894 923 N/A INTRINSIC
low complexity region 967 1005 N/A INTRINSIC
Pfam:RhoGEF 1096 1256 5.9e-9 PFAM
PH 1273 1381 3.97e-8 SMART
low complexity region 1412 1433 N/A INTRINSIC
low complexity region 1487 1500 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182905
AA Change: Q494L

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562
AA Change: Q494L

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
SCOP:d1kz7a1 1073 1162 4e-7 SMART
Blast:RhoGEF 1087 1157 1e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000183208
AA Change: Q431L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562
AA Change: Q431L

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182909
AA Change: Q494L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: Q494L

DomainStartEndE-ValueType
low complexity region 201 223 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 351 395 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 581 606 N/A INTRINSIC
low complexity region 773 792 N/A INTRINSIC
low complexity region 885 914 N/A INTRINSIC
low complexity region 958 996 N/A INTRINSIC
Pfam:RhoGEF 1087 1247 3.9e-9 PFAM
PH 1264 1372 3.97e-8 SMART
low complexity region 1403 1424 N/A INTRINSIC
low complexity region 1478 1491 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182480
Predicted Effect probably benign
Transcript: ENSMUST00000182412
Predicted Effect probably benign
Transcript: ENSMUST00000182649
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G A 1: 120,099,213 (GRCm39) probably null Het
Adamts6 G A 13: 104,483,900 (GRCm39) probably null Het
Add3 C A 19: 53,223,277 (GRCm39) A343D probably benign Het
Ankub1 T C 3: 57,572,528 (GRCm39) D398G probably benign Het
Apbb1 C T 7: 105,222,937 (GRCm39) A225T probably damaging Het
Apbb1 C A 7: 105,222,938 (GRCm39) W224C probably damaging Het
Calm4 A G 13: 3,888,038 (GRCm39) D48G possibly damaging Het
Ccdc18 A T 5: 108,319,484 (GRCm39) I502L probably benign Het
Cftr T C 6: 18,220,683 (GRCm39) S185P probably damaging Het
Chd2 C A 7: 73,101,471 (GRCm39) K1418N possibly damaging Het
Cmya5 A C 13: 93,229,814 (GRCm39) V1758G probably benign Het
Cpsf4l T C 11: 113,599,680 (GRCm39) K35R possibly damaging Het
Cyp2c68 A T 19: 39,727,622 (GRCm39) V119E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah3 G T 7: 119,564,711 (GRCm39) Q2651K probably benign Het
Eif4g2 T C 7: 110,676,920 (GRCm39) probably null Het
Enc1 A G 13: 97,381,999 (GRCm39) R170G probably benign Het
Enpp2 T C 15: 54,741,228 (GRCm39) R357G probably damaging Het
Epb41l2 A G 10: 25,375,734 (GRCm39) K58E possibly damaging Het
Fis1 A G 5: 136,994,528 (GRCm39) probably null Het
Fmo9 A C 1: 166,505,126 (GRCm39) M89R possibly damaging Het
Gm6096 A C 7: 33,950,676 (GRCm39) I72L possibly damaging Het
Golga5 G A 12: 102,450,740 (GRCm39) M464I probably benign Het
Got1l1 T C 8: 27,688,464 (GRCm39) probably null Het
Ift56 T A 6: 38,371,975 (GRCm39) N188K probably benign Het
Igfbpl1 A G 4: 45,813,517 (GRCm39) Y233H probably damaging Het
Il18r1 T C 1: 40,513,923 (GRCm39) I43T probably benign Het
Ints8 T C 4: 11,252,891 (GRCm39) N64D probably damaging Het
Kalrn A G 16: 33,875,441 (GRCm39) S44P probably damaging Het
Kif13b G T 14: 64,976,016 (GRCm39) G444W probably damaging Het
Lmo1 A G 7: 108,742,832 (GRCm39) C13R probably damaging Het
Lrfn2 T A 17: 49,404,160 (GRCm39) M761K possibly damaging Het
Lrrd1 T C 5: 3,913,887 (GRCm39) I719T probably damaging Het
Madd A T 2: 90,974,015 (GRCm39) V1423E probably damaging Het
Mbnl1 T A 3: 60,528,749 (GRCm39) probably null Het
Mrps28 T C 3: 8,965,097 (GRCm39) D114G probably damaging Het
Muc6 T A 7: 141,226,792 (GRCm39) M1412L probably benign Het
Myf6 T C 10: 107,330,280 (GRCm39) K96E possibly damaging Het
Myrf A G 19: 10,197,162 (GRCm39) V462A probably benign Het
Nbeal1 T C 1: 60,287,524 (GRCm39) S923P possibly damaging Het
Nckap1l T C 15: 103,381,549 (GRCm39) L430P possibly damaging Het
Nfatc2ip C T 7: 125,995,113 (GRCm39) probably null Het
Or11g24 A G 14: 50,662,662 (GRCm39) R229G probably benign Het
Or12e10 G T 2: 87,640,431 (GRCm39) C89F probably damaging Het
Or2w4 T C 13: 21,795,819 (GRCm39) I107V probably benign Het
Or7g33 T A 9: 19,449,014 (GRCm39) I71F possibly damaging Het
Plin2 A G 4: 86,586,903 (GRCm39) V5A probably benign Het
Pramel31 T C 4: 144,090,199 (GRCm39) M413T probably benign Het
Ptprm T A 17: 66,995,295 (GRCm39) D1311V probably damaging Het
Recql5 A T 11: 115,821,540 (GRCm39) I72N probably damaging Het
Sall2 A T 14: 52,550,648 (GRCm39) M847K probably benign Het
Slc23a1 T C 18: 35,752,577 (GRCm39) R567G probably benign Het
Slc28a1 G A 7: 80,774,753 (GRCm39) R200H probably benign Het
Smc4 T A 3: 68,937,580 (GRCm39) Y843* probably null Het
Syne2 C A 12: 75,967,994 (GRCm39) Q915K probably benign Het
Tas2r131 T A 6: 132,933,985 (GRCm39) I275F probably damaging Het
Tcf20 T C 15: 82,739,081 (GRCm39) H790R probably damaging Het
Tm7sf3 A G 6: 146,514,887 (GRCm39) F310S possibly damaging Het
Tmem9b T A 7: 109,344,627 (GRCm39) probably null Het
Tnfaip8 A G 18: 50,184,742 (GRCm39) probably benign Het
Top2b T G 14: 16,409,838 (GRCm38) L835R probably damaging Het
Trappc8 A T 18: 21,003,802 (GRCm39) S209T probably benign Het
Uap1 C T 1: 169,994,302 (GRCm39) R58Q probably benign Het
Upk3bl A G 5: 136,092,915 (GRCm39) probably null Het
Usp34 A G 11: 23,396,778 (GRCm39) H596R probably damaging Het
Vmn1r181 C T 7: 23,683,580 (GRCm39) A15V probably damaging Het
Vmn2r54 T A 7: 12,365,883 (GRCm39) K350N probably benign Het
Vmn2r89 A G 14: 51,693,178 (GRCm39) H176R probably benign Het
Vwa7 A G 17: 35,243,241 (GRCm39) R640G probably benign Het
Other mutations in Arhgef40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Arhgef40 APN 14 52,226,417 (GRCm39) missense probably damaging 1.00
IGL00848:Arhgef40 APN 14 52,224,884 (GRCm39) missense probably damaging 1.00
IGL00966:Arhgef40 APN 14 52,229,155 (GRCm39) critical splice donor site probably null
IGL01123:Arhgef40 APN 14 52,231,803 (GRCm39) missense probably damaging 0.99
IGL02110:Arhgef40 APN 14 52,226,862 (GRCm39) missense probably damaging 1.00
IGL02490:Arhgef40 APN 14 52,226,652 (GRCm39) missense probably damaging 0.99
IGL02505:Arhgef40 APN 14 52,238,320 (GRCm39) missense probably damaging 1.00
IGL02636:Arhgef40 APN 14 52,234,865 (GRCm39) missense probably damaging 1.00
R0200:Arhgef40 UTSW 14 52,234,431 (GRCm39) missense probably damaging 0.99
R0496:Arhgef40 UTSW 14 52,242,364 (GRCm39) unclassified probably benign
R0608:Arhgef40 UTSW 14 52,234,431 (GRCm39) missense probably damaging 0.99
R0826:Arhgef40 UTSW 14 52,238,450 (GRCm39) missense probably benign 0.05
R1126:Arhgef40 UTSW 14 52,234,583 (GRCm39) missense probably damaging 0.96
R1330:Arhgef40 UTSW 14 52,227,613 (GRCm39) missense probably benign 0.42
R1612:Arhgef40 UTSW 14 52,241,538 (GRCm39) missense probably damaging 1.00
R1794:Arhgef40 UTSW 14 52,227,387 (GRCm39) missense possibly damaging 0.94
R1844:Arhgef40 UTSW 14 52,235,080 (GRCm39) missense probably damaging 0.99
R2018:Arhgef40 UTSW 14 52,241,162 (GRCm39) missense probably damaging 1.00
R2064:Arhgef40 UTSW 14 52,233,640 (GRCm39) missense probably damaging 1.00
R2321:Arhgef40 UTSW 14 52,231,733 (GRCm39) splice site probably benign
R3877:Arhgef40 UTSW 14 52,239,742 (GRCm39) missense probably damaging 1.00
R4233:Arhgef40 UTSW 14 52,227,628 (GRCm39) missense possibly damaging 0.50
R4596:Arhgef40 UTSW 14 52,224,681 (GRCm39) critical splice donor site probably null
R4676:Arhgef40 UTSW 14 52,228,416 (GRCm39) nonsense probably null
R4703:Arhgef40 UTSW 14 52,239,767 (GRCm39) missense probably damaging 1.00
R4704:Arhgef40 UTSW 14 52,239,767 (GRCm39) missense probably damaging 1.00
R4719:Arhgef40 UTSW 14 52,242,395 (GRCm39) unclassified probably benign
R4915:Arhgef40 UTSW 14 52,227,556 (GRCm39) missense probably damaging 1.00
R4917:Arhgef40 UTSW 14 52,227,556 (GRCm39) missense probably damaging 1.00
R4918:Arhgef40 UTSW 14 52,227,556 (GRCm39) missense probably damaging 1.00
R5097:Arhgef40 UTSW 14 52,227,146 (GRCm39) missense probably damaging 1.00
R5183:Arhgef40 UTSW 14 52,241,556 (GRCm39) missense probably damaging 0.98
R5195:Arhgef40 UTSW 14 52,227,269 (GRCm39) missense possibly damaging 0.68
R5367:Arhgef40 UTSW 14 52,227,156 (GRCm39) missense probably damaging 0.99
R5381:Arhgef40 UTSW 14 52,229,306 (GRCm39) missense probably damaging 0.99
R5594:Arhgef40 UTSW 14 52,233,614 (GRCm39) missense probably damaging 1.00
R5632:Arhgef40 UTSW 14 52,231,795 (GRCm39) missense probably damaging 1.00
R5665:Arhgef40 UTSW 14 52,238,357 (GRCm39) missense possibly damaging 0.80
R5798:Arhgef40 UTSW 14 52,234,489 (GRCm39) missense probably damaging 1.00
R5820:Arhgef40 UTSW 14 52,224,953 (GRCm39) missense possibly damaging 0.76
R6451:Arhgef40 UTSW 14 52,238,456 (GRCm39) missense probably damaging 1.00
R6633:Arhgef40 UTSW 14 52,234,888 (GRCm39) missense probably damaging 1.00
R6642:Arhgef40 UTSW 14 52,228,419 (GRCm39) unclassified probably benign
R6675:Arhgef40 UTSW 14 52,229,098 (GRCm39) missense probably damaging 0.99
R6781:Arhgef40 UTSW 14 52,235,354 (GRCm39) intron probably benign
R6901:Arhgef40 UTSW 14 52,234,825 (GRCm39) missense probably damaging 1.00
R7852:Arhgef40 UTSW 14 52,229,254 (GRCm39) missense unknown
R7857:Arhgef40 UTSW 14 52,226,212 (GRCm39) missense probably damaging 0.97
R7914:Arhgef40 UTSW 14 52,225,032 (GRCm39) missense probably damaging 1.00
R8060:Arhgef40 UTSW 14 52,222,452 (GRCm39) splice site probably benign
R8144:Arhgef40 UTSW 14 52,235,632 (GRCm39) missense probably damaging 1.00
R8195:Arhgef40 UTSW 14 52,226,226 (GRCm39) missense probably damaging 1.00
R8432:Arhgef40 UTSW 14 52,226,857 (GRCm39) missense probably benign 0.00
R8738:Arhgef40 UTSW 14 52,238,414 (GRCm39) missense probably damaging 1.00
R8830:Arhgef40 UTSW 14 52,241,165 (GRCm39) missense probably damaging 1.00
R9038:Arhgef40 UTSW 14 52,235,072 (GRCm39) missense probably damaging 0.96
R9712:Arhgef40 UTSW 14 52,226,415 (GRCm39) missense probably damaging 0.99
U24488:Arhgef40 UTSW 14 52,235,673 (GRCm39) missense probably benign 0.07
X0023:Arhgef40 UTSW 14 52,241,141 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAGTTGACCCCGCAGTGTA -3'
(R):5'- CCCTACTGCTGGGCTACCA -3'

Sequencing Primer
(F):5'- GCAGTGTACGGCAGGTG -3'
(R):5'- TGGGGTTACACATCCATACTAGGC -3'
Posted On 2018-02-28