Incidental Mutation 'R5517:Arhgap35'
| ID |
431344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap35
|
| Ensembl Gene |
ENSMUSG00000058230 |
| Gene Name |
Rho GTPase activating protein 35 |
| Synonyms |
p190A, 6430596G11Rik, p190RhoGAP, Grlf1, P190 RhoGAP |
| MMRRC Submission |
043076-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16228398-16349313 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16297414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 550
(F550L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075845]
[ENSMUST00000171937]
|
| AlphaFold |
Q91YM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075845
AA Change: F550L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: F550L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
154 |
249 |
6.1e-7 |
PFAM |
|
FF
|
270 |
327 |
5.76e-9 |
SMART |
|
FF
|
369 |
422 |
1.1e-5 |
SMART |
|
FF
|
429 |
483 |
7.43e-12 |
SMART |
|
FF
|
485 |
539 |
2.02e-4 |
SMART |
|
Blast:RhoGAP
|
733 |
796 |
1e-7 |
BLAST |
|
low complexity region
|
1037 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1214 |
1225 |
N/A |
INTRINSIC |
|
low complexity region
|
1227 |
1235 |
N/A |
INTRINSIC |
|
RhoGAP
|
1259 |
1433 |
8.14e-72 |
SMART |
|
low complexity region
|
1444 |
1457 |
N/A |
INTRINSIC |
|
low complexity region
|
1462 |
1494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171937
AA Change: F550L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: F550L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
154 |
249 |
6e-7 |
PFAM |
|
FF
|
270 |
327 |
5.76e-9 |
SMART |
|
FF
|
369 |
422 |
1.1e-5 |
SMART |
|
FF
|
429 |
483 |
7.43e-12 |
SMART |
|
FF
|
485 |
539 |
2.02e-4 |
SMART |
|
Blast:RhoGAP
|
733 |
796 |
1e-7 |
BLAST |
|
low complexity region
|
1037 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1214 |
1225 |
N/A |
INTRINSIC |
|
low complexity region
|
1227 |
1235 |
N/A |
INTRINSIC |
|
RhoGAP
|
1259 |
1433 |
8.14e-72 |
SMART |
|
low complexity region
|
1444 |
1457 |
N/A |
INTRINSIC |
|
low complexity region
|
1462 |
1494 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8286 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.5%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 2 days of birth and never survive beyond 3 weeks. Observed phenotypes include defects in eye morphogenesis, forebrain development, neural tube closure, axon guidance and fasciculation, and renal abnormalities, including hypoplastic and glomerulocystic kidneys, associated with a ciliogenesis defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Aire |
A |
T |
10: 77,875,525 (GRCm39) |
S282T |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,216,887 (GRCm39) |
E283G |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,051,665 (GRCm39) |
D1477E |
possibly damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,556,405 (GRCm39) |
D273G |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,040,906 (GRCm39) |
L664P |
probably damaging |
Het |
| Armc2 |
T |
C |
10: 41,839,846 (GRCm39) |
E373G |
probably benign |
Het |
| Atp8b2 |
C |
A |
3: 89,853,338 (GRCm39) |
A726S |
probably benign |
Het |
| C030048H21Rik |
T |
A |
2: 26,145,899 (GRCm39) |
Q87L |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,405,542 (GRCm39) |
|
probably benign |
Het |
| Cdk10 |
T |
A |
8: 123,957,326 (GRCm39) |
|
probably null |
Het |
| Cenpe |
C |
A |
3: 134,929,026 (GRCm39) |
P310Q |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,972 (GRCm39) |
|
probably null |
Het |
| Crebl2 |
T |
C |
6: 134,828,139 (GRCm39) |
S104P |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,726 (GRCm39) |
K239E |
probably benign |
Het |
| Defb5 |
A |
G |
8: 19,300,868 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,676,832 (GRCm39) |
M422K |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gatm |
G |
A |
2: 122,426,024 (GRCm39) |
T409I |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,950,332 (GRCm39) |
D80E |
probably damaging |
Het |
| Gspt1 |
C |
A |
16: 11,071,843 (GRCm39) |
G7C |
unknown |
Het |
| Hells |
G |
A |
19: 38,943,244 (GRCm39) |
S516N |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,738,542 (GRCm39) |
S2069P |
possibly damaging |
Het |
| Kank4 |
G |
A |
4: 98,663,118 (GRCm39) |
T690M |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,573,006 (GRCm39) |
N265S |
possibly damaging |
Het |
| Kif5b |
C |
A |
18: 6,220,954 (GRCm39) |
A385S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,415 (GRCm39) |
S1102P |
probably benign |
Het |
| Mcm7 |
A |
G |
5: 138,163,133 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,144,876 (GRCm39) |
R246H |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,610,226 (GRCm39) |
M1189K |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,783,892 (GRCm39) |
I286N |
probably damaging |
Het |
| Or4k52 |
G |
T |
2: 111,610,804 (GRCm39) |
M46I |
probably benign |
Het |
| Or7g29 |
G |
A |
9: 19,287,063 (GRCm39) |
T38I |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,923,995 (GRCm39) |
N1118S |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,855,987 (GRCm39) |
Y439H |
probably damaging |
Het |
| Pcdhb7 |
G |
T |
18: 37,474,846 (GRCm39) |
|
probably benign |
Het |
| Picalm |
C |
T |
7: 89,819,806 (GRCm39) |
T189I |
possibly damaging |
Het |
| Ptx4 |
T |
A |
17: 25,343,760 (GRCm39) |
S337T |
possibly damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,508,313 (GRCm39) |
S745L |
probably benign |
Het |
| Rspry1 |
G |
A |
8: 95,363,388 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
G |
9: 119,324,779 (GRCm39) |
I1350L |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,839,755 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,056,575 (GRCm39) |
|
probably benign |
Het |
| Slc6a12 |
A |
G |
6: 121,331,298 (GRCm39) |
N183S |
probably benign |
Het |
| Smg9 |
C |
A |
7: 24,114,338 (GRCm39) |
|
probably benign |
Het |
| Spred1 |
G |
A |
2: 117,008,195 (GRCm39) |
S367N |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,122,646 (GRCm39) |
V21A |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,816,627 (GRCm39) |
I56F |
possibly damaging |
Het |
| Taf1a |
T |
G |
1: 183,177,323 (GRCm39) |
L67R |
probably damaging |
Het |
| Tbc1d10b |
C |
A |
7: 126,797,779 (GRCm39) |
R787S |
possibly damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,313 (GRCm39) |
N1044K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,232,871 (GRCm39) |
T886A |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,027,676 (GRCm39) |
D472G |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,061,943 (GRCm39) |
N286S |
possibly damaging |
Het |
|
| Other mutations in Arhgap35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00557:Arhgap35
|
APN |
7 |
16,298,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00684:Arhgap35
|
APN |
7 |
16,295,625 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01385:Arhgap35
|
APN |
7 |
16,298,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01411:Arhgap35
|
APN |
7 |
16,298,192 (GRCm39) |
missense |
probably benign |
|
|
IGL01922:Arhgap35
|
APN |
7 |
16,298,180 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01977:Arhgap35
|
APN |
7 |
16,297,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02074:Arhgap35
|
APN |
7 |
16,296,980 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02305:Arhgap35
|
APN |
7 |
16,297,590 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02342:Arhgap35
|
APN |
7 |
16,296,305 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02973:Arhgap35
|
APN |
7 |
16,296,803 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02989:Arhgap35
|
APN |
7 |
16,231,580 (GRCm39) |
makesense |
probably null |
|
|
PIT4382001:Arhgap35
|
UTSW |
7 |
16,297,794 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4431001:Arhgap35
|
UTSW |
7 |
16,295,536 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0047:Arhgap35
|
UTSW |
7 |
16,295,917 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1690:Arhgap35
|
UTSW |
7 |
16,297,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Arhgap35
|
UTSW |
7 |
16,295,874 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2036:Arhgap35
|
UTSW |
7 |
16,297,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Arhgap35
|
UTSW |
7 |
16,231,950 (GRCm39) |
splice site |
probably null |
|
|
R2292:Arhgap35
|
UTSW |
7 |
16,297,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3079:Arhgap35
|
UTSW |
7 |
16,296,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3745:Arhgap35
|
UTSW |
7 |
16,297,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3762:Arhgap35
|
UTSW |
7 |
16,299,000 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4661:Arhgap35
|
UTSW |
7 |
16,298,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Arhgap35
|
UTSW |
7 |
16,297,511 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4749:Arhgap35
|
UTSW |
7 |
16,232,551 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5081:Arhgap35
|
UTSW |
7 |
16,299,059 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5131:Arhgap35
|
UTSW |
7 |
16,245,112 (GRCm39) |
splice site |
probably null |
|
|
R5175:Arhgap35
|
UTSW |
7 |
16,296,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5440:Arhgap35
|
UTSW |
7 |
16,296,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Arhgap35
|
UTSW |
7 |
16,297,392 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6087:Arhgap35
|
UTSW |
7 |
16,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Arhgap35
|
UTSW |
7 |
16,297,392 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6396:Arhgap35
|
UTSW |
7 |
16,296,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6878:Arhgap35
|
UTSW |
7 |
16,299,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7063:Arhgap35
|
UTSW |
7 |
16,299,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7150:Arhgap35
|
UTSW |
7 |
16,296,491 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7269:Arhgap35
|
UTSW |
7 |
16,295,652 (GRCm39) |
missense |
probably benign |
|
|
R7276:Arhgap35
|
UTSW |
7 |
16,298,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7517:Arhgap35
|
UTSW |
7 |
16,296,132 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7593:Arhgap35
|
UTSW |
7 |
16,298,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Arhgap35
|
UTSW |
7 |
16,296,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7792:Arhgap35
|
UTSW |
7 |
16,295,453 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8101:Arhgap35
|
UTSW |
7 |
16,296,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8873:Arhgap35
|
UTSW |
7 |
16,295,415 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8956:Arhgap35
|
UTSW |
7 |
16,348,404 (GRCm39) |
start gained |
probably benign |
|
|
R9163:Arhgap35
|
UTSW |
7 |
16,295,549 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9507:Arhgap35
|
UTSW |
7 |
16,297,343 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9667:Arhgap35
|
UTSW |
7 |
16,296,914 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGGCCATCTTTGCCTAAG -3'
(R):5'- TGGACATCTATGGCAAGCAC -3'
Sequencing Primer
(F):5'- TGCCTAAGATAACCAAATTGATCC -3'
(R):5'- AAGAGTTCCAAGAGTTGCTTTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation