Incidental Mutation 'R4626:Arhgap39'
ID 348804
Institutional Source Beutler Lab
Gene Symbol Arhgap39
Ensembl Gene ENSMUSG00000033697
Gene Name Rho GTPase activating protein 39
Synonyms D15Wsu169e
MMRRC Submission 041891-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R4626 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76608183-76702366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 76621837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 255 (F255V)
Ref Sequence ENSEMBL: ENSMUSP00000036697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036176] [ENSMUST00000077821]
AlphaFold P59281
Predicted Effect possibly damaging
Transcript: ENSMUST00000036176
AA Change: F255V

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: F255V

DomainStartEndE-ValueType
WW 27 60 1.64e0 SMART
WW 66 99 5.41e-1 SMART
low complexity region 125 138 N/A INTRINSIC
low complexity region 304 318 N/A INTRINSIC
Pfam:MyTH4 759 904 2.3e-32 PFAM
RhoGAP 932 1105 5.9e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077821
AA Change: F255V

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: F255V

DomainStartEndE-ValueType
WW 27 60 1.64e0 SMART
WW 66 99 5.41e-1 SMART
low complexity region 125 138 N/A INTRINSIC
low complexity region 304 318 N/A INTRINSIC
Pfam:MyTH4 756 874 3.3e-25 PFAM
RhoGAP 901 1074 5.9e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177011
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A C 11: 84,313,784 (GRCm39) *527G probably null Het
Abca17 A T 17: 24,540,058 (GRCm39) I390N probably damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd49 A C 9: 14,693,936 (GRCm39) L77R probably damaging Het
Ap3b1 T A 13: 94,540,586 (GRCm39) N169K possibly damaging Het
Atp1a3 T A 7: 24,698,193 (GRCm39) N171I possibly damaging Het
Atp9a T C 2: 168,481,863 (GRCm39) D953G probably damaging Het
Atxn1 T C 13: 45,720,575 (GRCm39) Y440C probably damaging Het
Bccip T C 7: 133,322,457 (GRCm39) Y268H possibly damaging Het
Brms1l C A 12: 55,909,958 (GRCm39) P243T probably benign Het
Btbd10 T C 7: 112,927,605 (GRCm39) E250G probably damaging Het
Cacna1e T C 1: 154,358,294 (GRCm39) probably null Het
Cfhr2 A T 1: 139,741,314 (GRCm39) N220K probably damaging Het
Csnk1g2 C A 10: 80,475,648 (GRCm39) A405E probably damaging Het
D5Ertd579e T C 5: 36,771,903 (GRCm39) I831V possibly damaging Het
F2 T A 2: 91,461,015 (GRCm39) N239I probably benign Het
Fbln5 T A 12: 101,727,086 (GRCm39) D301V probably damaging Het
Fbn2 A T 18: 58,146,819 (GRCm39) C2692* probably null Het
Fhdc1 C T 3: 84,381,557 (GRCm39) D34N probably damaging Het
Galnt13 T A 2: 54,747,878 (GRCm39) M253K probably damaging Het
Gpc6 C A 14: 118,202,255 (GRCm39) Y488* probably null Het
Grm5 G T 7: 87,779,361 (GRCm39) G934C probably damaging Het
Gys1 T C 7: 45,088,958 (GRCm39) L119S probably damaging Het
H2-T15 CTGGGTG CTG 17: 36,368,788 (GRCm39) probably null Het
Htra4 T C 8: 25,527,130 (GRCm39) N222D probably benign Het
Iba57 A G 11: 59,049,287 (GRCm39) V294A probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama5 G A 2: 179,826,253 (GRCm39) T2330M probably damaging Het
Lrguk G A 6: 34,106,158 (GRCm39) E728K probably benign Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mettl18 T A 1: 163,824,045 (GRCm39) V122E probably damaging Het
Mindy2 G A 9: 70,534,063 (GRCm39) S378L probably damaging Het
Mis18bp1 G T 12: 65,187,540 (GRCm39) F854L probably damaging Het
Mtdh C T 15: 34,114,980 (GRCm39) R106* probably null Het
Nup214 T A 2: 31,923,416 (GRCm39) V1315E possibly damaging Het
Nup58 A G 14: 60,476,004 (GRCm39) V271A probably benign Het
Or1j1 A G 2: 36,702,271 (GRCm39) Y278H probably damaging Het
Or4c101 T C 2: 88,390,176 (GRCm39) V121A possibly damaging Het
Or6f2 T C 7: 139,756,359 (GRCm39) S109P probably damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pcdha11 A T 18: 37,140,051 (GRCm39) N560I probably damaging Het
Pcdhb9 T A 18: 37,535,302 (GRCm39) F432Y probably benign Het
Peg10 GGATCC GGATCCCCATCAAGATCC 6: 4,756,460 (GRCm39) probably benign Het
Poll C A 19: 45,543,563 (GRCm39) M385I probably benign Het
Pomt1 A G 2: 32,144,424 (GRCm39) K737E possibly damaging Het
Prr16 C T 18: 51,435,911 (GRCm39) T130I probably damaging Het
Ptpn18 A G 1: 34,510,873 (GRCm39) probably null Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Scn10a A G 9: 119,460,571 (GRCm39) I1101T possibly damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Snx10 A G 6: 51,565,270 (GRCm39) D129G probably damaging Het
Stub1 A G 17: 26,050,845 (GRCm39) probably null Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Trmu T C 15: 85,779,186 (GRCm39) Y278H possibly damaging Het
Ugt2b36 A C 5: 87,239,947 (GRCm39) F146C probably damaging Het
Vav2 T C 2: 27,160,172 (GRCm39) I692V possibly damaging Het
Wdfy3 A G 5: 102,091,800 (GRCm39) L513P probably damaging Het
Zfhx4 T A 3: 5,467,699 (GRCm39) V2619D probably damaging Het
Zfyve26 T A 12: 79,315,844 (GRCm39) N1211Y possibly damaging Het
Zp3r A G 1: 130,542,912 (GRCm39) F142L probably damaging Het
Other mutations in Arhgap39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Arhgap39 APN 15 76,622,015 (GRCm39) splice site probably benign
IGL01586:Arhgap39 APN 15 76,614,638 (GRCm39) missense probably benign 0.16
IGL01693:Arhgap39 APN 15 76,610,167 (GRCm39) missense probably null 1.00
IGL02017:Arhgap39 APN 15 76,621,237 (GRCm39) missense probably damaging 0.98
IGL02508:Arhgap39 APN 15 76,609,184 (GRCm39) makesense probably null
IGL03333:Arhgap39 APN 15 76,610,932 (GRCm39) missense probably benign 0.05
R0328:Arhgap39 UTSW 15 76,636,152 (GRCm39) splice site probably benign
R0432:Arhgap39 UTSW 15 76,619,086 (GRCm39) missense probably damaging 0.99
R0479:Arhgap39 UTSW 15 76,619,086 (GRCm39) missense probably damaging 0.99
R0549:Arhgap39 UTSW 15 76,619,086 (GRCm39) missense probably damaging 0.99
R0551:Arhgap39 UTSW 15 76,619,086 (GRCm39) missense probably damaging 0.99
R1054:Arhgap39 UTSW 15 76,635,759 (GRCm39) missense probably benign
R1830:Arhgap39 UTSW 15 76,619,383 (GRCm39) missense probably damaging 1.00
R2421:Arhgap39 UTSW 15 76,609,346 (GRCm39) missense probably damaging 1.00
R2497:Arhgap39 UTSW 15 76,609,585 (GRCm39) missense probably damaging 1.00
R3909:Arhgap39 UTSW 15 76,636,088 (GRCm39) missense probably benign 0.03
R4410:Arhgap39 UTSW 15 76,609,712 (GRCm39) unclassified probably benign
R4790:Arhgap39 UTSW 15 76,610,931 (GRCm39) missense possibly damaging 0.51
R4792:Arhgap39 UTSW 15 76,625,717 (GRCm39) missense possibly damaging 0.92
R4911:Arhgap39 UTSW 15 76,622,005 (GRCm39) missense probably damaging 1.00
R5225:Arhgap39 UTSW 15 76,609,715 (GRCm39) unclassified probably benign
R5417:Arhgap39 UTSW 15 76,619,301 (GRCm39) missense possibly damaging 0.80
R5443:Arhgap39 UTSW 15 76,682,125 (GRCm39) intron probably benign
R5521:Arhgap39 UTSW 15 76,649,694 (GRCm39) missense possibly damaging 0.66
R5686:Arhgap39 UTSW 15 76,610,833 (GRCm39) missense probably damaging 1.00
R5747:Arhgap39 UTSW 15 76,625,735 (GRCm39) missense possibly damaging 0.68
R5785:Arhgap39 UTSW 15 76,621,618 (GRCm39) missense probably benign
R5879:Arhgap39 UTSW 15 76,636,007 (GRCm39) missense probably damaging 1.00
R6035:Arhgap39 UTSW 15 76,621,424 (GRCm39) nonsense probably null
R6035:Arhgap39 UTSW 15 76,621,424 (GRCm39) nonsense probably null
R6049:Arhgap39 UTSW 15 76,611,601 (GRCm39) critical splice donor site probably null
R6143:Arhgap39 UTSW 15 76,614,606 (GRCm39) nonsense probably null
R6232:Arhgap39 UTSW 15 76,620,712 (GRCm39) missense probably damaging 1.00
R6276:Arhgap39 UTSW 15 76,621,736 (GRCm39) missense probably benign 0.06
R6277:Arhgap39 UTSW 15 76,619,337 (GRCm39) missense probably damaging 1.00
R6305:Arhgap39 UTSW 15 76,621,902 (GRCm39) missense probably benign 0.31
R6587:Arhgap39 UTSW 15 76,621,699 (GRCm39) missense probably damaging 1.00
R7153:Arhgap39 UTSW 15 76,649,691 (GRCm39) missense probably benign 0.09
R7447:Arhgap39 UTSW 15 76,649,797 (GRCm39) start gained probably benign
R7658:Arhgap39 UTSW 15 76,621,617 (GRCm39) missense probably benign 0.03
R8071:Arhgap39 UTSW 15 76,621,702 (GRCm39) missense probably benign
R8269:Arhgap39 UTSW 15 76,635,942 (GRCm39) missense probably benign 0.35
R8368:Arhgap39 UTSW 15 76,619,455 (GRCm39) missense probably damaging 1.00
R9124:Arhgap39 UTSW 15 76,619,467 (GRCm39) missense probably damaging 1.00
R9333:Arhgap39 UTSW 15 76,619,325 (GRCm39) missense probably damaging 1.00
R9438:Arhgap39 UTSW 15 76,636,118 (GRCm39) missense probably damaging 0.96
R9602:Arhgap39 UTSW 15 76,610,954 (GRCm39) missense probably damaging 0.98
R9615:Arhgap39 UTSW 15 76,621,438 (GRCm39) missense probably benign 0.02
R9700:Arhgap39 UTSW 15 76,611,617 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AATAGGGGCCTGGTATTCCAC -3'
(R):5'- AGTGACTGGATGTCCTCTCTCC -3'

Sequencing Primer
(F):5'- TATTCCACTGGAGGCTCCTCATAGAG -3'
(R):5'- GGATGTCCTCTCTCCACATAGGAC -3'
Posted On 2015-10-08