Incidental Mutation 'R2310:Arhgef10l'
| ID |
244732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef10l
|
| Ensembl Gene |
ENSMUSG00000040964 |
| Gene Name |
Rho guanine nucleotide exchange factor 10-like |
| Synonyms |
2810441C07Rik |
| MMRRC Submission |
040309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R2310 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140241796-140393318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 140320429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 136
(C136W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039204]
[ENSMUST00000069623]
[ENSMUST00000097820]
[ENSMUST00000105799]
[ENSMUST00000143614]
[ENSMUST00000154979]
|
| AlphaFold |
A2AWP8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039204
AA Change: C136W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: C136W
| 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: C136W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: C136W
| 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: C136W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: C136W
| 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: ENSMUST00000105799
AA Change: C136W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: C136W
| 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 |
noncoding transcript
Transcript: ENSMUST00000125045
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143614
AA Change: C136W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120437
Gene: ENSMUSG00000040964
AA Change: C136W
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154979
|
| SMART Domains |
Protein: ENSMUSP00000122667
Gene: ENSMUSG00000040964
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
T |
A |
10: 50,624,988 (GRCm39) |
H1625Q |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,081,826 (GRCm39) |
T451A |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,350 (GRCm39) |
L60P |
probably damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,864 (GRCm39) |
T401A |
probably benign |
Het |
| Frmd4a |
GAA |
G |
2: 4,577,210 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
A |
G |
11: 83,318,265 (GRCm39) |
V148A |
possibly damaging |
Het |
| Golga5 |
A |
G |
12: 102,458,420 (GRCm39) |
E621G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,401,088 (GRCm39) |
R74* |
probably null |
Het |
| Intu |
C |
T |
3: 40,608,243 (GRCm39) |
A85V |
probably benign |
Het |
| Kansl3 |
T |
A |
1: 36,382,445 (GRCm39) |
I860F |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,426 (GRCm39) |
S715P |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,349,001 (GRCm39) |
C106S |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,564,433 (GRCm39) |
E934G |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,054 (GRCm39) |
|
probably null |
Het |
| Msl3l2 |
C |
A |
10: 55,991,421 (GRCm39) |
R49S |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,444 (GRCm39) |
I2410F |
possibly damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,836 (GRCm38) |
V82A |
probably benign |
Het |
| Or4a73 |
A |
G |
2: 89,420,794 (GRCm39) |
S222P |
probably damaging |
Het |
| Pip5k1c |
T |
G |
10: 81,142,142 (GRCm39) |
S117R |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,690,841 (GRCm39) |
S561P |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,475 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,172,477 (GRCm39) |
W131R |
probably damaging |
Het |
| Shq1 |
C |
T |
6: 100,607,963 (GRCm39) |
W316* |
probably null |
Het |
| Slc45a4 |
A |
G |
15: 73,461,409 (GRCm39) |
Y87H |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,768,963 (GRCm39) |
D32G |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 64,979,490 (GRCm39) |
R345Q |
possibly damaging |
Het |
| Tnrc18 |
C |
G |
5: 142,774,308 (GRCm39) |
V174L |
probably damaging |
Het |
| Trmt6 |
G |
T |
2: 132,650,832 (GRCm39) |
P259T |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,379,341 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,204,053 (GRCm39) |
T1979A |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,356,591 (GRCm39) |
D3784G |
probably benign |
Het |
| Zfp119a |
A |
T |
17: 56,172,440 (GRCm39) |
Y468N |
probably benign |
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 |
|
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 |
|
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'- ATGCCCAGAGGAAGATGCAC -3'
(R):5'- AAAGCTGTGAATTGTATCCGCAATG -3'
Sequencing Primer
(F):5'- AAGATGCACTGTGCCACCTG -3'
(R):5'- TTGTATCCGCAATGATGAAAGTCAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation