Incidental Mutation 'R4995:Arhgef19'
ID 446649
Institutional Source Beutler Lab
Gene Symbol Arhgef19
Ensembl Gene ENSMUSG00000028919
Gene Name Rho guanine nucleotide exchange factor (GEF) 19
Synonyms 6430573B13Rik, WGEF
MMRRC Submission 042589-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R4995 (G1)
Quality Score 141
Status Validated
Chromosome 4
Chromosomal Location 141239499-141257564 bp(+) (GRCm38)
Type of Mutation splice site (1103 bp from exon)
DNA Base Change (assembly) T to A at 141247515 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006618] [ENSMUST00000125392] [ENSMUST00000135623] [ENSMUST00000138096] [ENSMUST00000141834] [ENSMUST00000147903]
AlphaFold Q8BWA8
Predicted Effect probably benign
Transcript: ENSMUST00000006618
SMART Domains Protein: ENSMUSP00000006618
Gene: ENSMUSG00000028919

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 null
Transcript: ENSMUST00000125392
Predicted Effect probably null
Transcript: ENSMUST00000135623
SMART Domains Protein: ENSMUSP00000119846
Gene: ENSMUSG00000028919

DomainStartEndE-ValueType
low complexity region 145 160 N/A INTRINSIC
low complexity region 161 172 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000138096
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 probably null
Transcript: ENSMUST00000141834
Predicted Effect probably benign
Transcript: ENSMUST00000147903
SMART Domains Protein: ENSMUSP00000120088
Gene: ENSMUSG00000028919

DomainStartEndE-ValueType
low complexity region 147 173 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184162
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (86/87)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik G A 2: 19,494,184 (GRCm38) Q333* probably null Het
4930505A04Rik C T 11: 30,426,349 (GRCm38) V173M probably damaging Het
Acvrl1 G A 15: 101,135,860 (GRCm38) R141H probably benign Het
Adprm A G 11: 67,041,610 (GRCm38) F158L possibly damaging Het
Aldoart2 C T 12: 55,566,253 (GRCm38) T321M probably benign Het
Ap3m2 A G 8: 22,803,776 (GRCm38) V86A probably benign Het
Bcl2l12 T G 7: 44,994,191 (GRCm38) probably null Het
Bptf T C 11: 107,054,565 (GRCm38) Q2501R probably damaging Het
C230029F24Rik A T 1: 49,338,136 (GRCm38) noncoding transcript Het
C7 C T 15: 5,049,592 (GRCm38) G78D probably damaging Het
Caly T C 7: 140,070,625 (GRCm38) T135A probably benign Het
Cbl A G 9: 44,153,811 (GRCm38) M740T possibly damaging Het
Cbx4 A G 11: 119,081,211 (GRCm38) V446A probably benign Het
Celsr1 C A 15: 85,937,911 (GRCm38) R1735L probably damaging Het
Cep250 A G 2: 155,988,316 (GRCm38) D135G probably damaging Het
Cgn T C 3: 94,779,936 (GRCm38) T19A probably damaging Het
Chic2 A T 5: 75,044,204 (GRCm38) V32D probably damaging Het
Cntln A G 4: 85,049,883 (GRCm38) K780E probably benign Het
Col8a2 A T 4: 126,310,788 (GRCm38) D197V probably damaging Het
Crot A T 5: 8,974,000 (GRCm38) V372E probably damaging Het
Cyb561d2 C T 9: 107,541,548 (GRCm38) V26M probably damaging Het
Ddx5 G A 11: 106,785,236 (GRCm38) T237I probably damaging Het
Dmxl2 G T 9: 54,501,441 (GRCm38) probably benign Het
Dock8 T A 19: 25,158,383 (GRCm38) S1188R probably benign Het
Ehbp1 T A 11: 22,101,073 (GRCm38) H493L probably damaging Het
Eif5b T A 1: 38,051,711 (GRCm38) *1217K probably null Het
Eprs1 A G 1: 185,410,139 (GRCm38) probably benign Het
Etfdh T C 3: 79,605,788 (GRCm38) D376G probably benign Het
Fam186a T C 15: 99,945,099 (GRCm38) Q1088R probably benign Het
Fbxw16 G T 9: 109,441,250 (GRCm38) T141N probably damaging Het
Fgf11 G A 11: 69,798,759 (GRCm38) H138Y probably damaging Het
Htra3 T C 5: 35,671,074 (GRCm38) E154G probably damaging Het
Hydin T A 8: 110,569,642 (GRCm38) V3601D probably damaging Het
Jup G T 11: 100,379,541 (GRCm38) S380* probably null Het
Klrg1 T A 6: 122,278,275 (GRCm38) D66V probably benign Het
Llgl1 C T 11: 60,709,724 (GRCm38) A633V probably benign Het
Lmln T A 16: 33,074,097 (GRCm38) Y203* probably null Het
Lrrc58 T G 16: 37,877,056 (GRCm38) C165G probably benign Het
Lss T C 10: 76,547,537 (GRCm38) V557A probably benign Het
Mast4 T C 13: 102,905,754 (GRCm38) probably benign Het
Med13l C A 5: 118,730,949 (GRCm38) P754Q possibly damaging Het
Mga C T 2: 119,932,582 (GRCm38) R1240* probably null Het
Mgat5b T A 11: 116,974,199 (GRCm38) probably null Het
Mtor A G 4: 148,525,752 (GRCm38) D1572G probably damaging Het
Muc4 T A 16: 32,754,214 (GRCm38) S1363T probably benign Het
Muc4 T A 16: 32,754,041 (GRCm38) S1306T probably benign Het
Myo18b A G 5: 112,760,392 (GRCm38) V2005A probably damaging Het
Myo1e G A 9: 70,353,272 (GRCm38) D571N probably benign Het
Mypn T C 10: 63,119,968 (GRCm38) probably null Het
Ndufb10 T C 17: 24,722,757 (GRCm38) probably null Het
Nelfb G T 2: 25,206,196 (GRCm38) D300E probably benign Het
Nicol1 G A 5: 33,984,926 (GRCm38) R79H probably damaging Het
Odad2 G A 18: 7,223,663 (GRCm38) T460M probably damaging Het
Olfr625-ps1 T A 7: 103,683,367 (GRCm38) D206E probably damaging Het
Or2y1d T A 11: 49,430,655 (GRCm38) Y60N probably damaging Het
Or4e5 A T 14: 52,490,531 (GRCm38) C61* probably null Het
Or52n2c T A 7: 104,925,735 (GRCm38) T10S probably benign Het
Pcdha11 C T 18: 37,011,027 (GRCm38) T57M probably benign Het
Pkp1 A T 1: 135,880,855 (GRCm38) I458N possibly damaging Het
Prr12 T A 7: 45,051,229 (GRCm38) probably benign Het
Prrc2c A T 1: 162,705,310 (GRCm38) probably benign Het
Psd4 T C 2: 24,397,247 (GRCm38) F397S probably benign Het
Pygm T C 19: 6,398,139 (GRCm38) I737T probably damaging Het
Rfx1 T A 8: 84,080,114 (GRCm38) probably null Het
Rsl1 A G 13: 67,182,249 (GRCm38) T254A possibly damaging Het
Sh3rf3 A G 10: 59,086,824 (GRCm38) Q574R probably benign Het
Spire1 T C 18: 67,552,779 (GRCm38) probably null Het
St6galnac4 G A 2: 32,594,063 (GRCm38) G91D probably damaging Het
Sytl2 T C 7: 90,382,257 (GRCm38) probably benign Het
Tbpl2 T A 2: 24,093,860 (GRCm38) K188N possibly damaging Het
Tenm3 A T 8: 48,229,137 (GRCm38) M2486K possibly damaging Het
Tgoln1 A C 6: 72,616,140 (GRCm38) V119G possibly damaging Het
Tpgs1 A T 10: 79,669,491 (GRCm38) N28Y probably benign Het
U2surp A C 9: 95,462,794 (GRCm38) probably benign Het
Vmn2r103 A G 17: 19,773,511 (GRCm38) H50R probably benign Het
Vmn2r19 A G 6: 123,329,910 (GRCm38) N459S probably benign Het
Vmn2r72 T C 7: 85,738,485 (GRCm38) S624G probably damaging Het
Vps13c A G 9: 67,919,321 (GRCm38) T1415A probably benign Het
Vwa5b1 G A 4: 138,608,843 (GRCm38) P147S probably damaging Het
Other mutations in Arhgef19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Arhgef19 APN 4 141,248,983 (GRCm38) unclassified probably benign
IGL02037:Arhgef19 APN 4 141,246,396 (GRCm38) missense probably damaging 0.99
IGL03049:Arhgef19 APN 4 141,254,316 (GRCm38) missense probably damaging 0.98
IGL03071:Arhgef19 APN 4 141,249,002 (GRCm38) missense possibly damaging 0.88
IGL03098:Arhgef19 UTSW 4 141,247,568 (GRCm38) missense possibly damaging 0.85
R0271:Arhgef19 UTSW 4 141,250,607 (GRCm38) missense probably benign 0.00
R0319:Arhgef19 UTSW 4 141,256,399 (GRCm38) missense possibly damaging 0.63
R1572:Arhgef19 UTSW 4 141,254,754 (GRCm38) missense probably benign 0.10
R1633:Arhgef19 UTSW 4 141,238,560 (GRCm38) unclassified probably benign
R1735:Arhgef19 UTSW 4 141,249,618 (GRCm38) missense possibly damaging 0.55
R1752:Arhgef19 UTSW 4 141,251,043 (GRCm38) missense probably benign 0.27
R1823:Arhgef19 UTSW 4 141,249,146 (GRCm38) missense probably benign 0.01
R1889:Arhgef19 UTSW 4 141,249,313 (GRCm38) missense probably damaging 1.00
R2138:Arhgef19 UTSW 4 141,250,800 (GRCm38) missense probably damaging 1.00
R2280:Arhgef19 UTSW 4 141,246,516 (GRCm38) missense probably benign 0.14
R3430:Arhgef19 UTSW 4 141,256,800 (GRCm38) missense probably benign 0.03
R3954:Arhgef19 UTSW 4 141,256,334 (GRCm38) missense probably damaging 1.00
R4158:Arhgef19 UTSW 4 141,246,349 (GRCm38) missense possibly damaging 0.50
R4160:Arhgef19 UTSW 4 141,246,349 (GRCm38) missense possibly damaging 0.50
R5031:Arhgef19 UTSW 4 141,250,810 (GRCm38) missense probably damaging 0.98
R5782:Arhgef19 UTSW 4 141,256,312 (GRCm38) missense probably damaging 1.00
R5913:Arhgef19 UTSW 4 141,249,298 (GRCm38) missense probably benign 0.03
R7614:Arhgef19 UTSW 4 141,256,779 (GRCm38) missense possibly damaging 0.52
R8356:Arhgef19 UTSW 4 141,250,615 (GRCm38) missense probably benign 0.25
R8456:Arhgef19 UTSW 4 141,250,615 (GRCm38) missense probably benign 0.25
R8531:Arhgef19 UTSW 4 141,249,592 (GRCm38) missense possibly damaging 0.82
R8876:Arhgef19 UTSW 4 141,247,882 (GRCm38) missense probably benign 0.28
R8931:Arhgef19 UTSW 4 141,249,292 (GRCm38) missense probably damaging 0.98
R8947:Arhgef19 UTSW 4 141,246,307 (GRCm38) missense possibly damaging 0.48
R9019:Arhgef19 UTSW 4 141,246,427 (GRCm38) missense probably benign 0.29
R9036:Arhgef19 UTSW 4 141,249,238 (GRCm38) missense probably damaging 1.00
R9718:Arhgef19 UTSW 4 141,249,292 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAGGTCTTCGGGTGATCAGC -3'
(R):5'- AAAGCGGGATCCCCAGTTTC -3'

Sequencing Primer
(F):5'- GGTGATCAGCCAGGTGC -3'
(R):5'- GGATCCCCAGTTTCCAACG -3'
Posted On 2016-12-08