Incidental Mutation 'R9454:Arhgef10l'
ID 714454
Institutional Source Beutler Lab
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene Name Rho guanine nucleotide exchange factor 10-like
Synonyms 2810441C07Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R9454 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 140241796-140393318 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 140308236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 39 (S39*)
Ref Sequence ENSEMBL: ENSMUSP00000101424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799] [ENSMUST00000147426]
AlphaFold A2AWP8
Predicted Effect probably null
Transcript: ENSMUST00000039204
AA Change: S279*
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: S279*

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 28 49 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
low complexity region 170 184 N/A INTRINSIC
RhoGEF 318 500 1.95e-52 SMART
Blast:PH 535 748 3e-82 BLAST
low complexity region 821 833 N/A INTRINSIC
low complexity region 864 876 N/A INTRINSIC
Blast:WD40 1217 1270 8e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000069623
AA Change: S240*
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: S240*

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 28 49 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
low complexity region 170 184 N/A INTRINSIC
RhoGEF 279 461 1.95e-52 SMART
Blast:PH 496 714 5e-80 BLAST
low complexity region 787 799 N/A INTRINSIC
low complexity region 830 842 N/A INTRINSIC
Blast:WD40 1183 1236 7e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000097820
AA Change: S240*
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: S240*

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 28 49 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
low complexity region 170 184 N/A INTRINSIC
RhoGEF 279 461 1.95e-52 SMART
Blast:PH 496 709 3e-82 BLAST
low complexity region 782 794 N/A INTRINSIC
low complexity region 825 837 N/A INTRINSIC
Blast:WD40 1178 1231 6e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000105797
AA Change: S62*
SMART Domains Protein: ENSMUSP00000101423
Gene: ENSMUSG00000040964
AA Change: S62*

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
Pfam:RhoGEF 101 183 7.1e-15 PFAM
low complexity region 195 213 N/A INTRINSIC
Blast:PH 248 461 7e-83 BLAST
low complexity region 534 546 N/A INTRINSIC
low complexity region 577 589 N/A INTRINSIC
Blast:WD40 618 656 6e-15 BLAST
Blast:WD40 930 983 1e-17 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000105798
AA Change: S39*
SMART Domains Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964
AA Change: S39*

DomainStartEndE-ValueType
RhoGEF 78 260 1.95e-52 SMART
Blast:PH 295 513 8e-81 BLAST
low complexity region 586 598 N/A INTRINSIC
low complexity region 629 641 N/A INTRINSIC
Blast:WD40 982 1035 6e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000105799
AA Change: S279*
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: S279*

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 28 49 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
low complexity region 170 184 N/A INTRINSIC
RhoGEF 318 500 1.95e-52 SMART
Blast:PH 535 753 5e-80 BLAST
low complexity region 826 838 N/A INTRINSIC
low complexity region 869 881 N/A INTRINSIC
Blast:WD40 1222 1275 8e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000138493
SMART Domains Protein: ENSMUSP00000119471
Gene: ENSMUSG00000040964

DomainStartEndE-ValueType
Pfam:RhoGEF 1 46 3.1e-11 PFAM
Blast:PH 81 294 3e-86 BLAST
low complexity region 367 379 N/A INTRINSIC
Blast:WD40 387 446 8e-6 BLAST
Blast:WD40 451 489 3e-15 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000147426
AA Change: S62*
SMART Domains Protein: ENSMUSP00000123642
Gene: ENSMUSG00000040964
AA Change: S62*

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
RhoGEF 101 262 5.44e-33 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G T 18: 61,952,067 (GRCm39) H431Q possibly damaging Het
Adam25 A T 8: 41,207,486 (GRCm39) I251F probably damaging Het
Ankrd31 A T 13: 96,916,842 (GRCm39) T119S probably damaging Het
Ankrd31 T C 13: 96,916,846 (GRCm39) V120A possibly damaging Het
Anks6 T C 4: 47,016,789 (GRCm39) E809G possibly damaging Het
Arhgap21 A T 2: 20,870,153 (GRCm39) S928T probably damaging Het
Aspm G A 1: 139,408,732 (GRCm39) E2540K probably benign Het
Atp10a T C 7: 58,308,339 (GRCm39) I46T probably benign Het
Atp13a5 C A 16: 29,133,338 (GRCm39) V483L possibly damaging Het
BC028528 T C 3: 95,797,082 (GRCm39) D29G possibly damaging Het
Ccdc187 T A 2: 26,166,114 (GRCm39) T772S possibly damaging Het
Ccnh G A 13: 85,350,521 (GRCm39) A199T probably benign Het
Cfap65 A T 1: 74,944,210 (GRCm39) Y1504N probably damaging Het
Ckap2 C A 8: 22,665,899 (GRCm39) E383* probably null Het
Clec4n T C 6: 123,212,532 (GRCm39) V116A possibly damaging Het
Cmc2 G T 8: 117,616,550 (GRCm39) D58E unknown Het
Cntn6 A G 6: 104,781,308 (GRCm39) K465E possibly damaging Het
Col6a6 G A 9: 105,661,059 (GRCm39) A350V probably damaging Het
Cps1 A G 1: 67,219,311 (GRCm39) I884V probably damaging Het
E2f7 C T 10: 110,620,542 (GRCm39) A853V probably benign Het
E330034G19Rik A T 14: 24,346,860 (GRCm39) Q114L unknown Het
Egfr G T 11: 16,837,155 (GRCm39) G632V probably damaging Het
Fam98b T C 2: 117,080,250 (GRCm39) M1T probably null Het
Fcgr2b T A 1: 170,788,657 (GRCm39) I317F probably damaging Het
Galntl6 T C 8: 58,411,435 (GRCm39) D265G probably damaging Het
Gm4922 A G 10: 18,660,329 (GRCm39) L131P probably damaging Het
H1f7 T C 15: 98,154,823 (GRCm39) I109V probably benign Het
H2-Q1 A T 17: 35,540,349 (GRCm39) I145F probably damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Ica1 A T 6: 8,667,288 (GRCm39) S293T probably benign Het
Ift70a2 T A 2: 75,806,812 (GRCm39) I567F probably benign Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Magi2 G T 5: 20,671,176 (GRCm39) V507F probably damaging Het
Malrd1 T C 2: 15,757,660 (GRCm39) I978T unknown Het
Malrd1 G A 2: 15,802,537 (GRCm39) W1083* probably null Het
Mgarp T C 3: 51,303,902 (GRCm39) T10A probably damaging Het
Mtnr1a A G 8: 45,538,612 (GRCm39) I17V Het
Muc5ac C T 7: 141,362,431 (GRCm39) T1914I unknown Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nav3 T C 10: 109,835,864 (GRCm39) T73A probably benign Het
Or4b1 A C 2: 89,979,820 (GRCm39) C177G probably damaging Het
Or8k21 A T 2: 86,145,178 (GRCm39) Y151N probably damaging Het
Pclo T A 5: 14,762,452 (GRCm39) S357T probably benign Het
Pkdrej T A 15: 85,702,420 (GRCm39) N1172I probably benign Het
Psmb9 G A 17: 34,402,078 (GRCm39) R173C probably benign Het
Ralgapb T A 2: 158,315,072 (GRCm39) H1146Q probably benign Het
Raph1 T A 1: 60,528,753 (GRCm39) Q836L unknown Het
Rcc1 A G 4: 132,062,074 (GRCm39) S280P probably damaging Het
Recql T C 6: 142,320,617 (GRCm39) M144V possibly damaging Het
Rela T C 19: 5,695,368 (GRCm39) I298T probably damaging Het
Rfc1 T A 5: 65,431,774 (GRCm39) I792F Het
Rnf31 A G 14: 55,833,609 (GRCm39) E539G Het
Rrp9 T C 9: 106,360,840 (GRCm39) S274P possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Scmh1 A G 4: 120,372,276 (GRCm39) I360V probably benign Het
Sh3yl1 T C 12: 30,990,420 (GRCm39) probably null Het
Shisa9 T C 16: 11,802,523 (GRCm39) S27P probably benign Het
Slc17a4 A G 13: 24,085,910 (GRCm39) V359A probably benign Het
Slfn5 C A 11: 82,850,885 (GRCm39) A394E probably benign Het
Sun3 A G 11: 8,988,281 (GRCm39) F14L probably benign Het
Surf1 A T 2: 26,804,808 (GRCm39) D148E possibly damaging Het
Syne2 A T 12: 76,141,844 (GRCm39) K1388* probably null Het
Syne2 A G 12: 76,067,275 (GRCm39) K4325E probably damaging Het
Tacr1 A G 6: 82,531,853 (GRCm39) M250V probably damaging Het
Tenm2 T C 11: 36,112,286 (GRCm39) T420A probably benign Het
Tm7sf3 C A 6: 146,520,041 (GRCm39) A282S probably benign Het
Tmf1 T C 6: 97,155,866 (GRCm39) E40G probably benign Het
Tnfrsf12a A G 17: 23,895,491 (GRCm39) probably null Het
Unc80 C A 1: 66,734,749 (GRCm39) H3325Q possibly damaging Het
Vamp9 C T 5: 100,070,952 (GRCm39) P76S probably damaging Het
Zfp142 A G 1: 74,609,016 (GRCm39) L1593S probably damaging Het
Zfp869 T A 8: 70,159,241 (GRCm39) Y444F probably benign Het
Zscan10 G A 17: 23,826,619 (GRCm39) probably null Het
Other mutations in Arhgef10l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Arhgef10l APN 4 140,297,649 (GRCm39) missense probably damaging 0.98
IGL01732:Arhgef10l APN 4 140,307,726 (GRCm39) missense probably damaging 0.99
IGL01988:Arhgef10l APN 4 140,305,672 (GRCm39) splice site probably benign
IGL02031:Arhgef10l APN 4 140,302,656 (GRCm39) missense probably damaging 1.00
IGL02253:Arhgef10l APN 4 140,271,595 (GRCm39) nonsense probably null
IGL02445:Arhgef10l APN 4 140,274,318 (GRCm39) missense probably benign 0.19
IGL02619:Arhgef10l APN 4 140,321,504 (GRCm39) missense probably benign 0.07
IGL02798:Arhgef10l APN 4 140,292,441 (GRCm39) critical splice donor site probably null
IGL03064:Arhgef10l APN 4 140,306,590 (GRCm39) missense probably damaging 1.00
IGL03178:Arhgef10l APN 4 140,271,739 (GRCm39) missense possibly damaging 0.92
IGL03236:Arhgef10l APN 4 140,338,671 (GRCm39) missense probably damaging 1.00
IGL03352:Arhgef10l APN 4 140,311,242 (GRCm39) start codon destroyed probably null 0.99
PIT4494001:Arhgef10l UTSW 4 140,292,522 (GRCm39) missense probably damaging 0.98
R0057:Arhgef10l UTSW 4 140,338,529 (GRCm39) splice site probably benign
R0062:Arhgef10l UTSW 4 140,279,843 (GRCm39) missense probably damaging 1.00
R0109:Arhgef10l UTSW 4 140,305,605 (GRCm39) missense probably benign 0.02
R0109:Arhgef10l UTSW 4 140,305,605 (GRCm39) missense probably benign 0.02
R0114:Arhgef10l UTSW 4 140,311,194 (GRCm39) missense probably benign 0.17
R0334:Arhgef10l UTSW 4 140,311,237 (GRCm39) nonsense probably null
R0742:Arhgef10l UTSW 4 140,264,156 (GRCm39) missense probably damaging 1.00
R1017:Arhgef10l UTSW 4 140,242,617 (GRCm39) missense probably damaging 0.99
R1166:Arhgef10l UTSW 4 140,302,581 (GRCm39) unclassified probably benign
R1397:Arhgef10l UTSW 4 140,271,754 (GRCm39) missense probably damaging 0.98
R1521:Arhgef10l UTSW 4 140,242,749 (GRCm39) missense possibly damaging 0.95
R1707:Arhgef10l UTSW 4 140,291,600 (GRCm39) missense probably damaging 1.00
R1793:Arhgef10l UTSW 4 140,242,684 (GRCm39) missense probably damaging 0.97
R2018:Arhgef10l UTSW 4 140,271,695 (GRCm39) missense probably damaging 1.00
R2093:Arhgef10l UTSW 4 140,297,601 (GRCm39) missense possibly damaging 0.57
R2098:Arhgef10l UTSW 4 140,306,743 (GRCm39) missense probably damaging 1.00
R2310:Arhgef10l UTSW 4 140,320,429 (GRCm39) missense probably damaging 1.00
R2879:Arhgef10l UTSW 4 140,242,598 (GRCm39) missense probably benign 0.09
R2883:Arhgef10l UTSW 4 140,244,113 (GRCm39) missense probably benign 0.02
R3732:Arhgef10l UTSW 4 140,308,930 (GRCm39) small deletion probably benign
R3732:Arhgef10l UTSW 4 140,308,930 (GRCm39) small deletion probably benign
R3861:Arhgef10l UTSW 4 140,242,798 (GRCm39) missense possibly damaging 0.94
R4049:Arhgef10l UTSW 4 140,242,762 (GRCm39) missense probably benign 0.05
R4322:Arhgef10l UTSW 4 140,270,037 (GRCm39) missense probably benign 0.07
R4707:Arhgef10l UTSW 4 140,264,194 (GRCm39) missense possibly damaging 0.63
R5395:Arhgef10l UTSW 4 140,297,601 (GRCm39) missense probably benign 0.16
R5720:Arhgef10l UTSW 4 140,308,930 (GRCm39) small deletion probably benign
R6066:Arhgef10l UTSW 4 140,304,391 (GRCm39) missense probably damaging 1.00
R6190:Arhgef10l UTSW 4 140,270,073 (GRCm39) missense possibly damaging 0.90
R6464:Arhgef10l UTSW 4 140,314,126 (GRCm39) missense probably benign 0.05
R6476:Arhgef10l UTSW 4 140,338,693 (GRCm39) missense probably damaging 1.00
R6478:Arhgef10l UTSW 4 140,270,068 (GRCm39) missense possibly damaging 0.91
R6483:Arhgef10l UTSW 4 140,344,226 (GRCm39) missense probably damaging 0.99
R6631:Arhgef10l UTSW 4 140,245,058 (GRCm39) intron probably benign
R6721:Arhgef10l UTSW 4 140,297,655 (GRCm39) missense probably damaging 1.00
R6890:Arhgef10l UTSW 4 140,271,730 (GRCm39) missense probably damaging 1.00
R7098:Arhgef10l UTSW 4 140,308,222 (GRCm39) missense probably benign 0.01
R7100:Arhgef10l UTSW 4 140,244,126 (GRCm39) missense possibly damaging 0.60
R7117:Arhgef10l UTSW 4 140,291,497 (GRCm39) critical splice donor site probably null
R7195:Arhgef10l UTSW 4 140,338,721 (GRCm39) missense probably benign
R7222:Arhgef10l UTSW 4 140,248,580 (GRCm39) missense probably damaging 1.00
R7397:Arhgef10l UTSW 4 140,290,115 (GRCm39) missense probably damaging 1.00
R7776:Arhgef10l UTSW 4 140,302,642 (GRCm39) missense probably damaging 1.00
R7801:Arhgef10l UTSW 4 140,271,578 (GRCm39) missense probably benign 0.00
R7811:Arhgef10l UTSW 4 140,242,335 (GRCm39) missense possibly damaging 0.63
R7832:Arhgef10l UTSW 4 140,305,616 (GRCm39) missense possibly damaging 0.90
R7849:Arhgef10l UTSW 4 140,311,245 (GRCm39) critical splice acceptor site probably null
R7963:Arhgef10l UTSW 4 140,306,736 (GRCm39) missense probably damaging 1.00
R8434:Arhgef10l UTSW 4 140,291,582 (GRCm39) missense possibly damaging 0.89
R8943:Arhgef10l UTSW 4 140,292,550 (GRCm39) missense probably damaging 0.99
R9004:Arhgef10l UTSW 4 140,279,921 (GRCm39) missense probably damaging 0.98
R9006:Arhgef10l UTSW 4 140,271,659 (GRCm39) missense probably benign 0.04
R9033:Arhgef10l UTSW 4 140,321,463 (GRCm39) missense probably damaging 0.99
R9302:Arhgef10l UTSW 4 140,242,548 (GRCm39) missense probably benign 0.04
R9337:Arhgef10l UTSW 4 140,338,624 (GRCm39) missense probably damaging 1.00
R9375:Arhgef10l UTSW 4 140,319,265 (GRCm39) missense probably benign
Z1088:Arhgef10l UTSW 4 140,309,046 (GRCm39) missense possibly damaging 0.53
Z1177:Arhgef10l UTSW 4 140,244,083 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- ATGAAACACAGTGTCCAGTTCC -3'
(R):5'- CCTGAGAGTTGGAGTTGGAAC -3'

Sequencing Primer
(F):5'- GTGTCCAGTTCCCTACCAAAGG -3'
(R):5'- TGGAACTGACCCATTTGGCTCAG -3'
Posted On 2022-06-15