Incidental Mutation 'R7811:Arhgef10l'
ID 601152
Institutional Source Beutler Lab
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene Name Rho guanine nucleotide exchange factor 10-like
Synonyms 2810441C07Rik
MMRRC Submission 045866-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R7811 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 140241796-140393318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 140242335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1030 (T1030K)
Ref Sequence ENSEMBL: ENSMUSP00000101424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799]
AlphaFold A2AWP8
Predicted Effect possibly damaging
Transcript: ENSMUST00000039204
AA Change: T1265K

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: T1265K

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: T1231K

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: T1231K

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 possibly damaging
Transcript: ENSMUST00000097820
AA Change: T1226K

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: T1226K

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 possibly damaging
Transcript: ENSMUST00000105797
AA Change: T978K

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101423
Gene: ENSMUSG00000040964
AA Change: T978K

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 possibly damaging
Transcript: ENSMUST00000105798
AA Change: T1030K

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964
AA Change: T1030K

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 possibly damaging
Transcript: ENSMUST00000105799
AA Change: T1270K

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: T1270K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,527,141 (GRCm39) probably null Het
Abca3 A G 17: 24,616,362 (GRCm39) T935A probably benign Het
Anxa7 A T 14: 20,510,254 (GRCm39) Y399N probably benign Het
Ass1 G A 2: 31,404,753 (GRCm39) V345I probably benign Het
Bms1 T C 6: 118,380,099 (GRCm39) D736G probably damaging Het
Bpifb1 T A 2: 154,048,484 (GRCm39) probably null Het
Cbx4 A C 11: 118,972,398 (GRCm39) C326G probably benign Het
Ccdc188 A G 16: 18,036,314 (GRCm39) E94G probably benign Het
Cdh5 A G 8: 104,852,235 (GRCm39) T117A possibly damaging Het
Cdk11b A G 4: 155,724,359 (GRCm39) T326A unknown Het
Clec5a C T 6: 40,558,867 (GRCm39) C73Y probably damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Diaph3 T C 14: 87,219,060 (GRCm39) D455G probably damaging Het
Eml2 T A 7: 18,920,047 (GRCm39) M117K probably benign Het
Ern1 A T 11: 106,325,694 (GRCm39) V112D unknown Het
Eya3 T C 4: 132,439,272 (GRCm39) I466T possibly damaging Het
Fbxl6 T C 15: 76,421,485 (GRCm39) probably null Het
Ffar1 A G 7: 30,560,802 (GRCm39) S32P possibly damaging Het
Fgb T C 3: 82,957,004 (GRCm39) D22G probably benign Het
Fsip2 T C 2: 82,828,797 (GRCm39) Y6865H possibly damaging Het
Gbx1 T C 5: 24,710,035 (GRCm39) E270G probably damaging Het
Golga4 T C 9: 118,361,643 (GRCm39) L207P probably damaging Het
Hnrnpa1 T C 15: 103,149,900 (GRCm39) S54P possibly damaging Het
Htr4 A G 18: 62,545,269 (GRCm39) E18G possibly damaging Het
Ide A C 19: 37,307,910 (GRCm39) L34R Het
Ip6k3 A T 17: 27,376,557 (GRCm39) Y51* probably null Het
Keap1 A G 9: 21,148,956 (GRCm39) L17P possibly damaging Het
Lrrn2 T C 1: 132,866,939 (GRCm39) V668A probably benign Het
Lypd8 A T 11: 58,281,064 (GRCm39) T209S possibly damaging Het
Myo10 T C 15: 25,804,610 (GRCm39) I1635T probably damaging Het
Myo1e T A 9: 70,234,544 (GRCm39) V299E probably damaging Het
Nadk A T 4: 155,661,332 (GRCm39) probably benign Het
Nalcn A T 14: 123,536,357 (GRCm39) W1231R probably damaging Het
Odf2l A G 3: 144,859,148 (GRCm39) T602A probably benign Het
Or13g1 T A 7: 85,955,554 (GRCm39) T256S probably damaging Het
Or2r3 T A 6: 42,448,635 (GRCm39) E159V probably damaging Het
Pde6c T C 19: 38,128,507 (GRCm39) V190A possibly damaging Het
Ppp4r3a C A 12: 101,019,821 (GRCm39) R378L probably damaging Het
Pus7l A C 15: 94,438,707 (GRCm39) V46G probably damaging Het
Satb2 G A 1: 56,884,880 (GRCm39) S466L probably benign Het
Serpina6 A G 12: 103,620,395 (GRCm39) M118T probably damaging Het
Slc29a1 T C 17: 45,897,189 (GRCm39) R366G probably damaging Het
Slc6a1 T C 6: 114,279,515 (GRCm39) F98S probably damaging Het
Spg7 T C 8: 123,824,164 (GRCm39) I738T possibly damaging Het
Srcap T C 7: 127,141,221 (GRCm39) V1667A probably damaging Het
Stxbp5 T C 10: 9,684,248 (GRCm39) N574S probably benign Het
Syne2 A G 12: 76,030,501 (GRCm39) probably null Het
Tbc1d10a T C 11: 4,136,948 (GRCm39) S54P possibly damaging Het
Trim12c T C 7: 103,990,469 (GRCm39) N336S unknown Het
Ubap2 T C 4: 41,211,710 (GRCm39) S351G probably benign Het
Unc13c G T 9: 73,600,553 (GRCm39) A1397E possibly damaging Het
Ush1c G A 7: 45,854,710 (GRCm39) R681* probably null Het
Vmn2r57 A T 7: 41,074,439 (GRCm39) C541* probably null Het
Vmn2r73 T C 7: 85,524,956 (GRCm39) D64G possibly damaging Het
Vmn2r88 A T 14: 51,656,160 (GRCm39) T790S Het
Zfp568 A G 7: 29,697,295 (GRCm39) T72A possibly damaging Het
Zfp950 A T 19: 61,108,353 (GRCm39) Y243* probably null Het
Zmym5 A G 14: 57,036,434 (GRCm39) S238P probably damaging Het
Zswim5 A G 4: 116,734,673 (GRCm39) E6G unknown 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
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
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'- AACGGCCATATTCTCTGTGTG -3'
(R):5'- TCTACGAGATGGCCGATGAC -3'

Sequencing Primer
(F):5'- CTGTTCTTCCAAGGCCTCAGTG -3'
(R):5'- AGATGGCCGATGACCCTGAC -3'
Posted On 2019-11-26