Incidental Mutation 'IGL03343:Rabgap1l'
ID |
417308 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rabgap1l
|
Ensembl Gene |
ENSMUSG00000026721 |
Gene Name |
RAB GTPase activating protein 1-like |
Synonyms |
5830411O09Rik, 9630005B12Rik, Hh1, 8430421H08Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03343
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 160270853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 645
(T645A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000191651]
|
AlphaFold |
A6H6A9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028049
AA Change: T645A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028049 Gene: ENSMUSG00000026721 AA Change: T645A
Domain | Start | End | E-Value | Type |
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
PTB
|
127 |
260 |
4.47e-20 |
SMART |
Pfam:DUF3694
|
290 |
421 |
8.1e-41 |
PFAM |
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
TBC
|
535 |
747 |
5.13e-67 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191651
|
SMART Domains |
Protein: ENSMUSP00000141357 Gene: ENSMUSG00000026721
Domain | Start | End | E-Value | Type |
PDB:3HZJ|C
|
1 |
107 |
1e-71 |
PDB |
SCOP:d1fkma2
|
1 |
107 |
1e-9 |
SMART |
Blast:TBC
|
13 |
89 |
2e-32 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194105
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194696
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap insertion are viable, fertile and overtly normal with no alterations in hematopoietic progenitor cell numbers or types. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
G |
7: 66,725,064 (GRCm39) |
H795R |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,565,016 (GRCm39) |
I188K |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,431,507 (GRCm39) |
Y5974H |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,778,623 (GRCm39) |
T336A |
probably damaging |
Het |
Arhgap30 |
C |
A |
1: 171,236,662 (GRCm39) |
T1012N |
probably damaging |
Het |
Asl |
A |
T |
5: 130,040,908 (GRCm39) |
Y178N |
probably damaging |
Het |
Brd1 |
C |
A |
15: 88,591,454 (GRCm39) |
L714F |
possibly damaging |
Het |
Ccdc47 |
A |
G |
11: 106,095,788 (GRCm39) |
S303P |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,848,420 (GRCm39) |
I858N |
probably damaging |
Het |
Cdk16 |
A |
G |
X: 20,561,998 (GRCm39) |
K264E |
probably damaging |
Het |
Cenpc1 |
A |
T |
5: 86,164,181 (GRCm39) |
F813L |
probably damaging |
Het |
Cfp |
A |
C |
X: 20,794,248 (GRCm39) |
F291C |
possibly damaging |
Het |
Chordc1 |
T |
G |
9: 18,223,762 (GRCm39) |
F276V |
probably damaging |
Het |
Clic4 |
C |
T |
4: 134,945,889 (GRCm39) |
R176H |
possibly damaging |
Het |
Fcer1a |
T |
G |
1: 173,053,040 (GRCm39) |
N52T |
possibly damaging |
Het |
Fndc7 |
A |
T |
3: 108,774,624 (GRCm39) |
C545S |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,559,674 (GRCm39) |
D1611G |
probably damaging |
Het |
Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
Gga3 |
A |
T |
11: 115,483,312 (GRCm39) |
N82K |
probably damaging |
Het |
Gm43638 |
G |
A |
5: 87,608,484 (GRCm39) |
P452S |
possibly damaging |
Het |
Gpn1 |
T |
C |
5: 31,662,309 (GRCm39) |
S244P |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,787,828 (GRCm39) |
S665G |
probably benign |
Het |
Htt |
A |
G |
5: 34,983,385 (GRCm39) |
I995V |
probably benign |
Het |
Iars1 |
A |
T |
13: 49,878,223 (GRCm39) |
I916L |
probably benign |
Het |
Ice1 |
C |
A |
13: 70,751,048 (GRCm39) |
L1679F |
probably damaging |
Het |
Inpp1 |
A |
T |
1: 52,838,486 (GRCm39) |
D54E |
probably damaging |
Het |
Irf2bpl |
T |
C |
12: 86,929,713 (GRCm39) |
E320G |
possibly damaging |
Het |
Itprid1 |
T |
G |
6: 55,945,569 (GRCm39) |
D763E |
probably damaging |
Het |
Kcnn2 |
T |
C |
18: 45,810,026 (GRCm39) |
V421A |
probably damaging |
Het |
Micu2 |
A |
G |
14: 58,154,768 (GRCm39) |
V419A |
probably benign |
Het |
Nek9 |
C |
T |
12: 85,350,383 (GRCm39) |
C897Y |
probably damaging |
Het |
Ofcc1 |
A |
C |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
Or12d17 |
G |
A |
17: 37,777,300 (GRCm39) |
D68N |
probably damaging |
Het |
Or2y16 |
C |
A |
11: 49,335,070 (GRCm39) |
H131N |
probably damaging |
Het |
Or5m12 |
T |
C |
2: 85,735,285 (GRCm39) |
T38A |
probably benign |
Het |
Or6c69c |
T |
G |
10: 129,911,125 (GRCm39) |
L282R |
probably damaging |
Het |
Pakap |
C |
T |
4: 57,688,502 (GRCm39) |
T115M |
probably damaging |
Het |
Papss1 |
G |
A |
3: 131,288,950 (GRCm39) |
G151S |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,943,780 (GRCm39) |
T1956A |
probably damaging |
Het |
Pomt1 |
A |
G |
2: 32,143,724 (GRCm39) |
|
probably benign |
Het |
Ppfibp2 |
T |
A |
7: 107,337,126 (GRCm39) |
Y570* |
probably null |
Het |
Ppp1r9a |
A |
G |
6: 5,046,015 (GRCm39) |
E493G |
probably damaging |
Het |
Ptk2b |
A |
G |
14: 66,406,870 (GRCm39) |
F621L |
probably benign |
Het |
Ptpn13 |
G |
T |
5: 103,702,816 (GRCm39) |
D1261Y |
possibly damaging |
Het |
Ptprd |
C |
T |
4: 75,977,966 (GRCm39) |
G181D |
probably damaging |
Het |
Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
Smc3 |
A |
G |
19: 53,602,273 (GRCm39) |
N40S |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,067,587 (GRCm39) |
D83V |
probably benign |
Het |
Sptb |
C |
T |
12: 76,630,330 (GRCm39) |
|
probably benign |
Het |
Ssc4d |
A |
T |
5: 135,990,028 (GRCm39) |
C493* |
probably null |
Het |
Styxl2 |
T |
C |
1: 165,927,017 (GRCm39) |
D865G |
probably benign |
Het |
Ubr2 |
C |
A |
17: 47,262,844 (GRCm39) |
V1256L |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,803,490 (GRCm39) |
|
probably benign |
Het |
Vmn2r105 |
C |
T |
17: 20,446,631 (GRCm39) |
W456* |
probably null |
Het |
Vmn2r24 |
T |
A |
6: 123,793,070 (GRCm39) |
I799N |
probably damaging |
Het |
Vps13b |
G |
A |
15: 35,917,316 (GRCm39) |
G3720D |
possibly damaging |
Het |
|
Other mutations in Rabgap1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01095:Rabgap1l
|
APN |
1 |
160,566,539 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01309:Rabgap1l
|
APN |
1 |
160,528,368 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01448:Rabgap1l
|
APN |
1 |
160,568,315 (GRCm39) |
splice site |
probably benign |
|
IGL01886:Rabgap1l
|
APN |
1 |
160,169,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02010:Rabgap1l
|
APN |
1 |
160,299,641 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02079:Rabgap1l
|
APN |
1 |
160,566,540 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02800:Rabgap1l
|
APN |
1 |
160,299,623 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL03388:Rabgap1l
|
APN |
1 |
160,561,093 (GRCm39) |
splice site |
probably null |
|
IGL03406:Rabgap1l
|
APN |
1 |
160,549,739 (GRCm39) |
missense |
probably damaging |
1.00 |
amerigo
|
UTSW |
1 |
160,551,606 (GRCm39) |
missense |
probably damaging |
1.00 |
hispaniola
|
UTSW |
1 |
160,472,877 (GRCm39) |
critical splice donor site |
probably null |
|
R0047:Rabgap1l
|
UTSW |
1 |
160,059,359 (GRCm39) |
splice site |
probably benign |
|
R0047:Rabgap1l
|
UTSW |
1 |
160,059,359 (GRCm39) |
splice site |
probably benign |
|
R0048:Rabgap1l
|
UTSW |
1 |
160,454,939 (GRCm39) |
splice site |
probably benign |
|
R0099:Rabgap1l
|
UTSW |
1 |
160,509,686 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0201:Rabgap1l
|
UTSW |
1 |
160,281,315 (GRCm39) |
splice site |
probably benign |
|
R0432:Rabgap1l
|
UTSW |
1 |
160,549,775 (GRCm39) |
missense |
probably benign |
0.10 |
R1104:Rabgap1l
|
UTSW |
1 |
160,059,445 (GRCm39) |
splice site |
probably benign |
|
R1220:Rabgap1l
|
UTSW |
1 |
160,566,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R1485:Rabgap1l
|
UTSW |
1 |
160,561,250 (GRCm39) |
missense |
probably benign |
0.06 |
R1569:Rabgap1l
|
UTSW |
1 |
160,529,960 (GRCm39) |
missense |
probably benign |
0.08 |
R1907:Rabgap1l
|
UTSW |
1 |
160,472,880 (GRCm39) |
missense |
probably benign |
0.07 |
R2128:Rabgap1l
|
UTSW |
1 |
160,566,527 (GRCm39) |
missense |
probably benign |
0.00 |
R2129:Rabgap1l
|
UTSW |
1 |
160,566,527 (GRCm39) |
missense |
probably benign |
0.00 |
R2177:Rabgap1l
|
UTSW |
1 |
160,551,632 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4636:Rabgap1l
|
UTSW |
1 |
160,169,660 (GRCm39) |
splice site |
probably null |
|
R4722:Rabgap1l
|
UTSW |
1 |
160,169,734 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4743:Rabgap1l
|
UTSW |
1 |
160,281,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R4913:Rabgap1l
|
UTSW |
1 |
160,066,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R4915:Rabgap1l
|
UTSW |
1 |
160,269,412 (GRCm39) |
missense |
probably benign |
0.01 |
R5035:Rabgap1l
|
UTSW |
1 |
160,551,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R5087:Rabgap1l
|
UTSW |
1 |
160,549,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R5437:Rabgap1l
|
UTSW |
1 |
160,549,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5507:Rabgap1l
|
UTSW |
1 |
160,178,898 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5619:Rabgap1l
|
UTSW |
1 |
160,066,142 (GRCm39) |
missense |
probably benign |
0.00 |
R5691:Rabgap1l
|
UTSW |
1 |
160,563,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R5837:Rabgap1l
|
UTSW |
1 |
160,134,792 (GRCm39) |
utr 3 prime |
probably benign |
|
R5881:Rabgap1l
|
UTSW |
1 |
160,169,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R6045:Rabgap1l
|
UTSW |
1 |
160,472,893 (GRCm39) |
missense |
probably benign |
0.00 |
R6243:Rabgap1l
|
UTSW |
1 |
160,472,877 (GRCm39) |
critical splice donor site |
probably null |
|
R6294:Rabgap1l
|
UTSW |
1 |
160,059,419 (GRCm39) |
missense |
probably benign |
0.14 |
R6452:Rabgap1l
|
UTSW |
1 |
160,281,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R6802:Rabgap1l
|
UTSW |
1 |
160,561,250 (GRCm39) |
missense |
probably benign |
0.06 |
R6945:Rabgap1l
|
UTSW |
1 |
160,509,752 (GRCm39) |
missense |
probably benign |
0.29 |
R7014:Rabgap1l
|
UTSW |
1 |
160,169,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R7062:Rabgap1l
|
UTSW |
1 |
160,054,220 (GRCm39) |
missense |
probably benign |
|
R7089:Rabgap1l
|
UTSW |
1 |
160,551,742 (GRCm39) |
nonsense |
probably null |
|
R7170:Rabgap1l
|
UTSW |
1 |
160,472,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R7172:Rabgap1l
|
UTSW |
1 |
160,561,156 (GRCm39) |
missense |
probably benign |
0.05 |
R7303:Rabgap1l
|
UTSW |
1 |
160,509,667 (GRCm39) |
missense |
probably benign |
0.01 |
R7357:Rabgap1l
|
UTSW |
1 |
160,169,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R7466:Rabgap1l
|
UTSW |
1 |
160,054,054 (GRCm39) |
critical splice donor site |
probably null |
|
R7501:Rabgap1l
|
UTSW |
1 |
160,528,358 (GRCm39) |
missense |
probably damaging |
0.98 |
R7565:Rabgap1l
|
UTSW |
1 |
160,078,987 (GRCm39) |
missense |
|
|
R7582:Rabgap1l
|
UTSW |
1 |
160,509,654 (GRCm39) |
missense |
probably benign |
|
R7740:Rabgap1l
|
UTSW |
1 |
160,509,673 (GRCm39) |
missense |
probably benign |
0.01 |
R7978:Rabgap1l
|
UTSW |
1 |
160,078,838 (GRCm39) |
missense |
|
|
R7993:Rabgap1l
|
UTSW |
1 |
160,528,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R8116:Rabgap1l
|
UTSW |
1 |
160,530,012 (GRCm39) |
missense |
probably benign |
0.22 |
R8672:Rabgap1l
|
UTSW |
1 |
160,270,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R8986:Rabgap1l
|
UTSW |
1 |
160,085,105 (GRCm39) |
missense |
probably damaging |
0.99 |
R9010:Rabgap1l
|
UTSW |
1 |
160,528,443 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9286:Rabgap1l
|
UTSW |
1 |
160,051,818 (GRCm39) |
nonsense |
probably null |
|
Z1177:Rabgap1l
|
UTSW |
1 |
160,566,643 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Posted On |
2016-08-02 |