Incidental Mutation 'IGL03062:Arhgap17'
| ID |
409528 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap17
|
| Ensembl Gene |
ENSMUSG00000030766 |
| Gene Name |
Rho GTPase activating protein 17 |
| Synonyms |
Rich1, Nadrin2, Nadrin, 5730403H17Rik, WBP15 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
122878441-122969138 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 122921097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098060]
[ENSMUST00000106442]
[ENSMUST00000167309]
[ENSMUST00000205262]
[ENSMUST00000205936]
[ENSMUST00000206117]
[ENSMUST00000207010]
|
| AlphaFold |
Q3UIA2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098060
|
| SMART Domains |
Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
1 |
239 |
4.45e-65 |
SMART |
|
RhoGAP
|
263 |
439 |
1.2e-60 |
SMART |
|
low complexity region
|
554 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
704 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106442
|
| SMART Domains |
Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
1 |
239 |
4.45e-65 |
SMART |
|
RhoGAP
|
263 |
439 |
1.2e-60 |
SMART |
|
low complexity region
|
542 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
782 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167309
|
| SMART Domains |
Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
1 |
239 |
4.45e-65 |
SMART |
|
RhoGAP
|
263 |
439 |
1.2e-60 |
SMART |
|
low complexity region
|
542 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
782 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206294
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207010
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,681,054 (GRCm39) |
R714Q |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,899,822 (GRCm39) |
I282L |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,117,624 (GRCm39) |
E835D |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,092,666 (GRCm39) |
|
probably benign |
Het |
| Calcr |
C |
T |
6: 3,693,718 (GRCm39) |
V359I |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,741,895 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,017,029 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,055,318 (GRCm39) |
E171G |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,406 (GRCm39) |
F79L |
possibly damaging |
Het |
| Fam83a |
A |
T |
15: 57,856,473 (GRCm39) |
|
probably null |
Het |
| Fam98a |
A |
G |
17: 75,847,100 (GRCm39) |
|
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,314 (GRCm39) |
Y163C |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,167 (GRCm39) |
S66P |
probably damaging |
Het |
| Fmo5 |
A |
G |
3: 97,542,909 (GRCm39) |
Y73C |
probably damaging |
Het |
| Galnt12 |
C |
A |
4: 47,122,566 (GRCm39) |
R574S |
possibly damaging |
Het |
| Klc3 |
C |
A |
7: 19,128,987 (GRCm39) |
G461W |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,149,515 (GRCm39) |
T973S |
possibly damaging |
Het |
| Loxl1 |
C |
A |
9: 58,219,193 (GRCm39) |
G326V |
possibly damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,504 (GRCm39) |
V127A |
probably benign |
Het |
| Lyrm1 |
T |
C |
7: 119,515,354 (GRCm39) |
|
probably benign |
Het |
| Med28 |
G |
A |
5: 45,679,811 (GRCm39) |
V65I |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,224,322 (GRCm39) |
Y179H |
probably damaging |
Het |
| Micall1 |
A |
C |
15: 78,998,881 (GRCm39) |
N58T |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,074,945 (GRCm39) |
F911Y |
probably damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,895,377 (GRCm39) |
M72K |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,278 (GRCm39) |
Q879R |
probably benign |
Het |
| Or4d6 |
C |
T |
19: 12,086,512 (GRCm39) |
V133I |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,331 (GRCm39) |
D269E |
probably benign |
Het |
| Phf11b |
T |
C |
14: 59,562,373 (GRCm39) |
I177M |
probably damaging |
Het |
| Pin1rt1 |
T |
G |
2: 104,545,052 (GRCm39) |
I27L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,444,858 (GRCm39) |
V750A |
possibly damaging |
Het |
| Pou5f1 |
A |
T |
17: 35,820,936 (GRCm39) |
N126I |
possibly damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rnf43 |
G |
T |
11: 87,623,130 (GRCm39) |
G744* |
probably null |
Het |
| Rsbn1 |
C |
A |
3: 103,860,945 (GRCm39) |
|
probably benign |
Het |
| Sars2 |
T |
A |
7: 28,446,206 (GRCm39) |
I145N |
possibly damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,144,951 (GRCm39) |
E1135V |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,354,206 (GRCm39) |
D42G |
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,853,981 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
T |
C |
3: 135,592,558 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,420,121 (GRCm39) |
S1059P |
probably benign |
Het |
| Socs6 |
A |
T |
18: 88,887,970 (GRCm39) |
M315K |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,654,865 (GRCm39) |
E200G |
probably damaging |
Het |
| Sult2a5 |
T |
A |
7: 13,358,107 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
A |
T |
1: 74,330,858 (GRCm39) |
I168N |
possibly damaging |
Het |
| Trim38 |
T |
C |
13: 23,966,946 (GRCm39) |
V131A |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,432,468 (GRCm39) |
S833P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,312,758 (GRCm39) |
I350M |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,648 (GRCm39) |
D640G |
probably damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,304,148 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,355 (GRCm39) |
C193Y |
probably damaging |
Het |
|
| Other mutations in Arhgap17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Arhgap17
|
APN |
7 |
122,885,791 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02112:Arhgap17
|
APN |
7 |
122,917,640 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02117:Arhgap17
|
APN |
7 |
122,885,996 (GRCm39) |
utr 3 prime |
probably benign |
|
|
gensing
|
UTSW |
7 |
122,913,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nightshade
|
UTSW |
7 |
122,926,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tuberose
|
UTSW |
7 |
122,907,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
yam
|
UTSW |
7 |
122,905,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0028:Arhgap17
|
UTSW |
7 |
122,885,900 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0480:Arhgap17
|
UTSW |
7 |
122,893,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0593:Arhgap17
|
UTSW |
7 |
122,885,966 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0594:Arhgap17
|
UTSW |
7 |
122,893,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0599:Arhgap17
|
UTSW |
7 |
122,903,013 (GRCm39) |
splice site |
probably benign |
|
|
R0751:Arhgap17
|
UTSW |
7 |
122,913,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Arhgap17
|
UTSW |
7 |
122,913,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Arhgap17
|
UTSW |
7 |
122,885,925 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2036:Arhgap17
|
UTSW |
7 |
122,917,717 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3428:Arhgap17
|
UTSW |
7 |
122,922,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4032:Arhgap17
|
UTSW |
7 |
122,879,289 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4119:Arhgap17
|
UTSW |
7 |
122,906,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Arhgap17
|
UTSW |
7 |
122,885,841 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4687:Arhgap17
|
UTSW |
7 |
122,920,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Arhgap17
|
UTSW |
7 |
122,907,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Arhgap17
|
UTSW |
7 |
122,886,149 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4963:Arhgap17
|
UTSW |
7 |
122,907,583 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5028:Arhgap17
|
UTSW |
7 |
122,893,896 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5253:Arhgap17
|
UTSW |
7 |
122,902,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5316:Arhgap17
|
UTSW |
7 |
122,895,750 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5410:Arhgap17
|
UTSW |
7 |
122,896,716 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5890:Arhgap17
|
UTSW |
7 |
122,885,981 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6367:Arhgap17
|
UTSW |
7 |
122,907,586 (GRCm39) |
makesense |
probably null |
|
|
R6376:Arhgap17
|
UTSW |
7 |
122,899,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Arhgap17
|
UTSW |
7 |
122,891,379 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6862:Arhgap17
|
UTSW |
7 |
122,921,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6962:Arhgap17
|
UTSW |
7 |
122,895,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7077:Arhgap17
|
UTSW |
7 |
122,879,231 (GRCm39) |
missense |
unknown |
|
|
R7178:Arhgap17
|
UTSW |
7 |
122,884,581 (GRCm39) |
splice site |
probably null |
|
|
R7205:Arhgap17
|
UTSW |
7 |
122,905,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Arhgap17
|
UTSW |
7 |
122,926,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Arhgap17
|
UTSW |
7 |
122,905,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7812:Arhgap17
|
UTSW |
7 |
122,879,290 (GRCm39) |
missense |
unknown |
|
|
R7901:Arhgap17
|
UTSW |
7 |
122,885,791 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7950:Arhgap17
|
UTSW |
7 |
122,886,039 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7952:Arhgap17
|
UTSW |
7 |
122,885,914 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8842:Arhgap17
|
UTSW |
7 |
122,893,750 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9460:Arhgap17
|
UTSW |
7 |
122,879,286 (GRCm39) |
missense |
unknown |
|
|
R9630:Arhgap17
|
UTSW |
7 |
122,907,540 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9766:Arhgap17
|
UTSW |
7 |
122,921,148 (GRCm39) |
missense |
probably benign |
0.27 |
|
RF009:Arhgap17
|
UTSW |
7 |
122,886,085 (GRCm39) |
small deletion |
probably benign |
|
|
RF015:Arhgap17
|
UTSW |
7 |
122,886,085 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation