Incidental Mutation 'R9004:Arhgef10l'
ID 685134
Institutional Source Beutler Lab
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene Name Rho guanine nucleotide exchange factor 10-like
Synonyms 2810441C07Rik
MMRRC Submission 068834-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R9004 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 140241796-140393318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140279921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 529 (D529G)
Ref Sequence ENSEMBL: ENSMUSP00000101424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799] [ENSMUST00000140403]
AlphaFold A2AWP8
Predicted Effect probably damaging
Transcript: ENSMUST00000039204
AA Change: D764G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: D764G

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 possibly damaging
Transcript: ENSMUST00000069623
AA Change: D730G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: D730G

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 damaging
Transcript: ENSMUST00000097820
AA Change: D725G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: D725G

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 damaging
Transcript: ENSMUST00000105797
AA Change: D477G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101423
Gene: ENSMUSG00000040964
AA Change: D477G

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 damaging
Transcript: ENSMUST00000105798
AA Change: D529G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964
AA Change: D529G

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 damaging
Transcript: ENSMUST00000105799
AA Change: D769G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: D769G

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
SMART Domains Protein: ENSMUSP00000119471
Gene: ENSMUSG00000040964
AA Change: D309G

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 possibly damaging
Transcript: ENSMUST00000140403
AA Change: D143G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117038
Gene: ENSMUSG00000040964
AA Change: D143G

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Blast:PH 16 127 3e-57 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency 100% (69/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,454,197 (GRCm39) probably benign Het
2310057N15Rik C A 16: 88,570,986 (GRCm39) C18F probably damaging Het
Abca7 T A 10: 79,841,483 (GRCm39) M941K probably damaging Het
Abcd2 A G 15: 91,075,051 (GRCm39) I254T probably benign Het
Abcg8 C A 17: 85,004,790 (GRCm39) T519K probably benign Het
Adcy9 A G 16: 4,106,378 (GRCm39) V1149A probably damaging Het
Alg10b A G 15: 90,109,894 (GRCm39) Y69C probably damaging Het
Ascc3 T A 10: 50,718,276 (GRCm39) C1990S probably benign Het
BC034090 T A 1: 155,102,138 (GRCm39) N42I possibly damaging Het
Bptf G A 11: 106,945,713 (GRCm39) P2509S probably damaging Het
Carmil1 T A 13: 24,225,662 (GRCm39) D1042V probably damaging Het
Ccny A G 18: 9,332,883 (GRCm39) V216A possibly damaging Het
Cdr2 T C 7: 120,557,722 (GRCm39) N268D probably benign Het
Cep152 T C 2: 125,453,020 (GRCm39) S351G probably benign Het
Chrm1 T C 19: 8,655,909 (GRCm39) C205R possibly damaging Het
Dalrd3 C A 9: 108,449,430 (GRCm39) D454E probably benign Het
Dmbt1 T C 7: 130,713,798 (GRCm39) L1622P unknown Het
Eif2s2 A G 2: 154,720,404 (GRCm39) Y172H probably benign Het
Ell T A 8: 71,031,604 (GRCm39) S101T probably damaging Het
Faf1 A G 4: 109,698,550 (GRCm39) T337A probably benign Het
Fhad1 A T 4: 141,649,735 (GRCm39) probably benign Het
Gen1 T C 12: 11,305,022 (GRCm39) probably benign Het
Gfap A G 11: 102,782,268 (GRCm39) I414T probably benign Het
Ginm1 A C 10: 7,651,019 (GRCm39) V129G probably damaging Het
Helq C T 5: 100,926,598 (GRCm39) probably benign Het
Hoxb3 A G 11: 96,237,137 (GRCm39) D405G possibly damaging Het
Hsp90aa1 A G 12: 110,659,045 (GRCm39) V584A probably damaging Het
Iglc2 T C 16: 19,017,425 (GRCm39) K59R probably benign Het
Inhba T C 13: 16,201,526 (GRCm39) S363P probably benign Het
Kif1c A G 11: 70,615,958 (GRCm39) K656E probably benign Het
Mroh4 G T 15: 74,486,171 (GRCm39) L492I possibly damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Naaladl1 C A 19: 6,155,965 (GRCm39) D46E probably damaging Het
Nbea C T 3: 55,910,359 (GRCm39) V1279I probably benign Het
Nceh1 T A 3: 27,293,726 (GRCm39) D161E possibly damaging Het
Nck2 A T 1: 43,593,510 (GRCm39) N239I Het
Nlrx1 C T 9: 44,167,644 (GRCm39) R751H probably benign Het
Or10ag54 T A 2: 87,099,695 (GRCm39) F190Y possibly damaging Het
Or8b46 A G 9: 38,450,530 (GRCm39) Y113C probably benign Het
Or8g17 C A 9: 38,930,580 (GRCm39) V86L probably benign Het
Oscar A T 7: 3,619,040 (GRCm39) C13S possibly damaging Het
Pappa2 T A 1: 158,763,979 (GRCm39) I511F probably damaging Het
Pappa2 T C 1: 158,764,518 (GRCm39) D331G possibly damaging Het
Pde4c C T 8: 71,199,515 (GRCm39) S265L possibly damaging Het
Pex1 A G 5: 3,662,914 (GRCm39) S502G probably benign Het
Pigl A G 11: 62,403,779 (GRCm39) Y237C probably damaging Het
Pkd1 A T 17: 24,799,421 (GRCm39) Q2880L probably benign Het
Pkhd1l1 A T 15: 44,406,768 (GRCm39) H2335L probably benign Het
Ppp1r17 A G 6: 56,008,513 (GRCm39) E151G probably damaging Het
Ppp1r27 A G 11: 120,441,849 (GRCm39) Y11H probably damaging Het
Prss54 C A 8: 96,292,137 (GRCm39) K147N possibly damaging Het
Ptchd3 T A 11: 121,732,687 (GRCm39) F526I possibly damaging Het
Ptprt T C 2: 161,608,314 (GRCm39) N661D probably benign Het
Rfpl4b T C 10: 38,697,771 (GRCm39) probably benign Het
Sdad1 T C 5: 92,439,820 (GRCm39) T402A probably benign Het
Stk32c T C 7: 138,702,859 (GRCm39) D178G probably damaging Het
Tas2r119 T C 15: 32,178,109 (GRCm39) L225P probably damaging Het
Tdpoz4 A T 3: 93,704,018 (GRCm39) E105V probably benign Het
Tlk1 A G 2: 70,552,290 (GRCm39) I520T probably damaging Het
Tmf1 A G 6: 97,152,738 (GRCm39) V445A probably benign Het
Tomm6 T C 17: 47,998,833 (GRCm39) D40G possibly damaging Het
Traf6 C A 2: 101,520,443 (GRCm39) Q164K probably benign Het
Tspoap1 A G 11: 87,670,284 (GRCm39) H150R Het
Ube2g2 A T 10: 77,479,434 (GRCm39) M126L probably benign Het
Unc45b A G 11: 82,819,515 (GRCm39) D496G probably damaging Het
Vmn1r74 A C 7: 11,580,840 (GRCm39) I47L probably benign Het
Vmn2r88 A T 14: 51,650,624 (GRCm39) L112F Het
Wwc2 A C 8: 48,373,732 (GRCm39) L45V probably damaging Het
Zfp459 A C 13: 67,556,714 (GRCm39) I123R probably damaging 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
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
R9454:Arhgef10l UTSW 4 140,308,236 (GRCm39) nonsense probably null
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'- TAAGCTGGACTGAGACACTGG -3'
(R):5'- TTTCCGACCAAGCAGCATG -3'

Sequencing Primer
(F):5'- AGACACTGGGCATGCCTTTC -3'
(R):5'- CCAAGCAGCATGTGGGGTG -3'
Posted On 2021-10-11