Incidental Mutation 'R1397:Arhgef10l'
ID 160181
Institutional Source Beutler Lab
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene Name Rho guanine nucleotide exchange factor 10-like
Synonyms 2810441C07Rik
MMRRC Submission 039459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R1397 (G1)
Quality Score 145
Status Validated
Chromosome 4
Chromosomal Location 140241796-140393318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140271754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 827 (G827D)
Ref Sequence ENSEMBL: ENSMUSP00000040531 (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: G827D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: G827D

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 benign
Transcript: ENSMUST00000069623
AA Change: G793D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: G793D

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 benign
Transcript: ENSMUST00000097820
AA Change: G788D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: G788D

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 benign
Transcript: ENSMUST00000105797
AA Change: G540D

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101423
Gene: ENSMUSG00000040964
AA Change: G540D

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 benign
Transcript: ENSMUST00000105798
AA Change: G592D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964
AA Change: G592D

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 benign
Transcript: ENSMUST00000105799
AA Change: G832D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: G832D

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 unknown
Transcript: ENSMUST00000138493
AA Change: G372D
SMART Domains Protein: ENSMUSP00000119471
Gene: ENSMUSG00000040964
AA Change: G372D

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 benign
Transcript: ENSMUST00000140403
SMART Domains Protein: ENSMUSP00000117038
Gene: ENSMUSG00000040964

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Blast:PH 16 127 3e-57 BLAST
Meta Mutation Damage Score 0.0968 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
Validation Efficiency 98% (59/60)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,504,733 (GRCm39) E1222G probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Ankmy2 T C 12: 36,220,440 (GRCm39) probably benign Het
Chrac1 A G 15: 72,962,293 (GRCm39) D3G possibly damaging Het
Dmrtb1 G C 4: 107,534,236 (GRCm39) P349R probably damaging Het
Drd1 A G 13: 54,207,573 (GRCm39) Y207H probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Epb41l3 T A 17: 69,569,343 (GRCm39) probably null Het
Fam13b C T 18: 34,578,636 (GRCm39) M705I probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Iqgap2 A G 13: 95,768,673 (GRCm39) I1409T probably benign Het
Itih1 C T 14: 30,651,862 (GRCm39) probably benign Het
Itih5 A T 2: 10,245,618 (GRCm39) D569V probably benign Het
Krt9 A T 11: 100,083,464 (GRCm39) L189Q probably damaging Het
Mfsd11 T C 11: 116,764,123 (GRCm39) F368S probably damaging Het
Neb C A 2: 52,133,955 (GRCm39) V3343F probably damaging Het
Nfe2l3 T C 6: 51,410,274 (GRCm39) S130P probably benign Het
Nid1 G A 13: 13,683,380 (GRCm39) A1153T possibly damaging Het
Nr2c2 T C 6: 92,126,745 (GRCm39) I78T probably benign Het
Nrp1 T G 8: 129,145,197 (GRCm39) Y84* probably null Het
Pate2 T A 9: 35,580,991 (GRCm39) F2I probably damaging Het
Pign A G 1: 105,585,496 (GRCm39) S18P probably damaging Het
Pla2r1 T A 2: 60,365,106 (GRCm39) T155S probably benign Het
Rabl3 C T 16: 37,360,336 (GRCm39) probably benign Het
Rhbg C T 3: 88,155,753 (GRCm39) V66I probably benign Het
Rimkla C T 4: 119,325,308 (GRCm39) G367E probably benign Het
Rnpepl1 C A 1: 92,844,881 (GRCm39) T391N probably damaging Het
Rnps1 C T 17: 24,631,031 (GRCm39) probably benign Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Slc25a48 A C 13: 56,612,864 (GRCm39) D254A probably damaging Het
Slc28a2 T A 2: 122,291,012 (GRCm39) C659* probably null Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31d1a C T 13: 59,852,853 (GRCm39) probably benign Het
Srrm1 A C 4: 135,048,742 (GRCm39) probably benign Het
Srrt A G 5: 137,298,523 (GRCm39) V247A possibly damaging Het
Tnks2 T C 19: 36,857,901 (GRCm39) probably benign Het
Trim33 A G 3: 103,217,750 (GRCm39) probably benign Het
Trim42 T A 9: 97,247,674 (GRCm39) I341F probably damaging Het
Trim55 T C 3: 19,698,801 (GRCm39) F10S probably benign Het
Trpm1 T C 7: 63,867,406 (GRCm39) W369R probably damaging Het
Vps13d C T 4: 144,867,904 (GRCm39) R1976H 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
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
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'- GCCATCTAGCTGTCTCCGCTCA -3'
(R):5'- ATCTGTCTATCTCCGTGTCTGTGTGT -3'

Sequencing Primer
(F):5'- TGCAGTCCAAGGCAGACAG -3'
(R):5'- tgtgtgtgtctgtatctgtgtatc -3'
Posted On 2014-03-14