Incidental Mutation 'R4158:Arhgef19'
ID 315620
Institutional Source Beutler Lab
Gene Symbol Arhgef19
Ensembl Gene ENSMUSG00000028919
Gene Name Rho guanine nucleotide exchange factor 19
Synonyms WGEF, 6430573B13Rik
MMRRC Submission 041001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R4158 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 140966810-140984875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140973660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 49 (I49T)
Ref Sequence ENSEMBL: ENSMUSP00000119846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006618] [ENSMUST00000125392] [ENSMUST00000135623] [ENSMUST00000138096] [ENSMUST00000141834] [ENSMUST00000147903]
AlphaFold Q8BWA8
Predicted Effect probably benign
Transcript: ENSMUST00000006618
AA Change: I49T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000006618
Gene: ENSMUSG00000028919
AA Change: I49T

DomainStartEndE-ValueType
low complexity region 145 160 N/A INTRINSIC
low complexity region 161 172 N/A INTRINSIC
low complexity region 305 331 N/A INTRINSIC
RhoGEF 380 559 5.51e-43 SMART
PH 593 706 8.86e-6 SMART
SH3 718 775 5.16e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125392
AA Change: I49T

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000135623
AA Change: I49T

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119846
Gene: ENSMUSG00000028919
AA Change: I49T

DomainStartEndE-ValueType
low complexity region 145 160 N/A INTRINSIC
low complexity region 161 172 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000138096
AA Change: I49T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140536
SMART Domains Protein: ENSMUSP00000114784
Gene: ENSMUSG00000028919

DomainStartEndE-ValueType
low complexity region 145 160 N/A INTRINSIC
low complexity region 161 172 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000141834
AA Change: I49T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184162
Predicted Effect probably benign
Transcript: ENSMUST00000147903
SMART Domains Protein: ENSMUSP00000120088
Gene: ENSMUSG00000028919

DomainStartEndE-ValueType
low complexity region 147 173 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,103,854 (GRCm39) H597R probably damaging Het
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Eomes A G 9: 118,308,031 (GRCm39) T35A probably benign Het
Fbxl20 T C 11: 97,986,220 (GRCm39) probably benign Het
Flcn T C 11: 59,691,947 (GRCm39) N234S probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign Het
Other mutations in Arhgef19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Arhgef19 APN 4 140,976,294 (GRCm39) unclassified probably benign
IGL02037:Arhgef19 APN 4 140,973,707 (GRCm39) missense probably damaging 0.99
IGL03049:Arhgef19 APN 4 140,981,627 (GRCm39) missense probably damaging 0.98
IGL03071:Arhgef19 APN 4 140,976,313 (GRCm39) missense possibly damaging 0.88
IGL03098:Arhgef19 UTSW 4 140,974,879 (GRCm39) missense possibly damaging 0.85
R0271:Arhgef19 UTSW 4 140,977,918 (GRCm39) missense probably benign 0.00
R0319:Arhgef19 UTSW 4 140,983,710 (GRCm39) missense possibly damaging 0.63
R1572:Arhgef19 UTSW 4 140,982,065 (GRCm39) missense probably benign 0.10
R1633:Arhgef19 UTSW 4 140,965,871 (GRCm39) unclassified probably benign
R1735:Arhgef19 UTSW 4 140,976,929 (GRCm39) missense possibly damaging 0.55
R1752:Arhgef19 UTSW 4 140,978,354 (GRCm39) missense probably benign 0.27
R1823:Arhgef19 UTSW 4 140,976,457 (GRCm39) missense probably benign 0.01
R1889:Arhgef19 UTSW 4 140,976,624 (GRCm39) missense probably damaging 1.00
R2138:Arhgef19 UTSW 4 140,978,111 (GRCm39) missense probably damaging 1.00
R2280:Arhgef19 UTSW 4 140,973,827 (GRCm39) missense probably benign 0.14
R3430:Arhgef19 UTSW 4 140,984,111 (GRCm39) missense probably benign 0.03
R3954:Arhgef19 UTSW 4 140,983,645 (GRCm39) missense probably damaging 1.00
R4160:Arhgef19 UTSW 4 140,973,660 (GRCm39) missense possibly damaging 0.50
R4995:Arhgef19 UTSW 4 140,974,826 (GRCm39) splice site probably null
R5031:Arhgef19 UTSW 4 140,978,121 (GRCm39) missense probably damaging 0.98
R5782:Arhgef19 UTSW 4 140,983,623 (GRCm39) missense probably damaging 1.00
R5913:Arhgef19 UTSW 4 140,976,609 (GRCm39) missense probably benign 0.03
R7614:Arhgef19 UTSW 4 140,984,090 (GRCm39) missense possibly damaging 0.52
R8356:Arhgef19 UTSW 4 140,977,926 (GRCm39) missense probably benign 0.25
R8456:Arhgef19 UTSW 4 140,977,926 (GRCm39) missense probably benign 0.25
R8531:Arhgef19 UTSW 4 140,976,903 (GRCm39) missense possibly damaging 0.82
R8876:Arhgef19 UTSW 4 140,975,193 (GRCm39) missense probably benign 0.28
R8931:Arhgef19 UTSW 4 140,976,603 (GRCm39) missense probably damaging 0.98
R8947:Arhgef19 UTSW 4 140,973,618 (GRCm39) missense possibly damaging 0.48
R9019:Arhgef19 UTSW 4 140,973,738 (GRCm39) missense probably benign 0.29
R9036:Arhgef19 UTSW 4 140,976,549 (GRCm39) missense probably damaging 1.00
R9718:Arhgef19 UTSW 4 140,976,603 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTACTATATCTGGGTCTGACACC -3'
(R):5'- TGAGAACTCCACGGTTCCAC -3'

Sequencing Primer
(F):5'- GACACCTTCTCTCCTGCAGG -3'
(R):5'- TCCACGGTTCCACCAGAGTTG -3'
Posted On 2015-05-14