Incidental Mutation 'PIT4494001:Arhgef10l'
ID |
556144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef10l
|
Ensembl Gene |
ENSMUSG00000040964 |
Gene Name |
Rho guanine nucleotide exchange factor 10-like |
Synonyms |
2810441C07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
PIT4494001 (G1)
|
Quality Score |
143.008 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
140241796-140393318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140292522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 413
(E413G)
|
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: E648G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040531 Gene: ENSMUSG00000040964 AA Change: E648G
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000069623
AA Change: E614G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066249 Gene: ENSMUSG00000040964 AA Change: E614G
Domain | Start | End | E-Value | Type |
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: E609G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095431 Gene: ENSMUSG00000040964 AA Change: E609G
Domain | Start | End | E-Value | Type |
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: E361G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101423 Gene: ENSMUSG00000040964 AA Change: E361G
Domain | Start | End | E-Value | Type |
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: E413G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101424 Gene: ENSMUSG00000040964 AA Change: E413G
Domain | Start | End | E-Value | Type |
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: E653G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101425 Gene: ENSMUSG00000040964 AA Change: E653G
Domain | Start | End | E-Value | Type |
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: E193G
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000140403
AA Change: E27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117038 Gene: ENSMUSG00000040964 AA Change: E27G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
Blast:PH
|
16 |
127 |
3e-57 |
BLAST |
|
Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
Eppk1 |
T |
A |
15: 75,990,272 (GRCm39) |
Q2203L |
probably benign |
Het |
F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,402,960 (GRCm39) |
Y842C |
probably damaging |
Het |
Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
Mynn |
C |
T |
3: 30,661,871 (GRCm39) |
R318* |
probably null |
Het |
Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
Pex7 |
A |
G |
10: 19,770,469 (GRCm39) |
|
probably null |
Het |
Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
Plekha4 |
T |
C |
7: 45,197,503 (GRCm39) |
S522P |
probably damaging |
Het |
Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
Slc25a40 |
T |
G |
5: 8,490,737 (GRCm39) |
I95S |
probably damaging |
Het |
Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
Tox4 |
C |
T |
14: 52,529,260 (GRCm39) |
T407I |
possibly damaging |
Het |
Vmn1r8 |
A |
G |
6: 57,013,712 (GRCm39) |
I254M |
probably benign |
Het |
Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
probably damaging |
Het |
Zfp60 |
T |
C |
7: 27,448,126 (GRCm39) |
S265P |
probably damaging |
Het |
|
Other mutations in Arhgef10l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
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'- GTCCCAGCCTTTACAACTGC -3'
(R):5'- AGACTGACTATGGCACCATCC -3'
Sequencing Primer
(F):5'- AACTGCTCCCTGCTCAGAG -3'
(R):5'- TCCGTCCCAAAGCCTGG -3'
|
Posted On |
2019-06-07 |