Incidental Mutation 'IGL01448:Rabgap1l'
ID |
84538 |
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 # |
IGL01448
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 160568315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000193810]
[ENSMUST00000195442]
|
AlphaFold |
A6H6A9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028049
|
SMART Domains |
Protein: ENSMUSP00000028049 Gene: ENSMUSG00000026721
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: ENSMUST00000193810
|
SMART Domains |
Protein: ENSMUSP00000141749 Gene: ENSMUSG00000026721
Domain | Start | End | E-Value | Type |
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
Blast:PTB
|
127 |
147 |
6e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195442
|
SMART Domains |
Protein: ENSMUSP00000141666 Gene: ENSMUSG00000026721
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
PTB
|
99 |
232 |
4.47e-20 |
SMART |
Pfam:DUF3694
|
262 |
394 |
1.4e-42 |
PFAM |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020A23Rik |
A |
T |
2: 130,247,767 (GRCm39) |
E75D |
possibly damaging |
Het |
1700084J12Rik |
A |
G |
15: 33,405,779 (GRCm39) |
|
probably benign |
Het |
2610303G11Rik |
T |
A |
9: 98,068,762 (GRCm39) |
|
noncoding transcript |
Het |
4931414P19Rik |
T |
C |
14: 54,823,417 (GRCm39) |
D320G |
possibly damaging |
Het |
Adamts6 |
G |
A |
13: 104,433,672 (GRCm39) |
E34K |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,654,881 (GRCm39) |
N3142K |
possibly damaging |
Het |
Anapc7 |
G |
A |
5: 122,566,276 (GRCm39) |
A62T |
probably damaging |
Het |
Atp8b3 |
G |
A |
10: 80,356,256 (GRCm39) |
P1152L |
probably benign |
Het |
Cc2d2a |
C |
T |
5: 43,841,527 (GRCm39) |
T181I |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,300,555 (GRCm39) |
L2835P |
probably damaging |
Het |
Ctns |
A |
T |
11: 73,079,548 (GRCm39) |
V99D |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,421,134 (GRCm39) |
R429G |
probably damaging |
Het |
Ddx11 |
T |
C |
17: 66,441,132 (GRCm39) |
V218A |
probably damaging |
Het |
Eftud2 |
G |
A |
11: 102,756,389 (GRCm39) |
|
probably benign |
Het |
Erich1 |
G |
T |
8: 14,128,853 (GRCm39) |
T29N |
possibly damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,686 (GRCm39) |
E215G |
probably damaging |
Het |
Fam184a |
G |
T |
10: 53,575,045 (GRCm39) |
A188E |
probably benign |
Het |
Fign |
A |
G |
2: 63,810,032 (GRCm39) |
S413P |
probably damaging |
Het |
Fkbp6 |
A |
G |
5: 135,378,550 (GRCm39) |
S33P |
probably damaging |
Het |
Glb1 |
A |
G |
9: 114,279,745 (GRCm39) |
|
probably benign |
Het |
H2-Q1 |
T |
C |
17: 35,542,437 (GRCm39) |
|
probably benign |
Het |
Helz2 |
T |
C |
2: 180,875,770 (GRCm39) |
T1575A |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,513,890 (GRCm39) |
E32G |
probably damaging |
Het |
Ints5 |
C |
T |
19: 8,872,851 (GRCm39) |
P270L |
possibly damaging |
Het |
Itga7 |
G |
T |
10: 128,785,337 (GRCm39) |
E847* |
probably null |
Het |
Kcns3 |
A |
C |
12: 11,141,644 (GRCm39) |
S352A |
possibly damaging |
Het |
Kiz |
A |
G |
2: 146,705,721 (GRCm39) |
K94E |
probably benign |
Het |
Lin7b |
C |
T |
7: 45,018,624 (GRCm39) |
V12M |
probably damaging |
Het |
Myo18b |
A |
T |
5: 112,959,570 (GRCm39) |
I1409N |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,777,161 (GRCm39) |
H407R |
probably damaging |
Het |
Nelfa |
T |
C |
5: 34,056,146 (GRCm39) |
T506A |
probably damaging |
Het |
Or10p21 |
A |
G |
10: 128,847,729 (GRCm39) |
T192A |
probably damaging |
Het |
Or4d5 |
A |
T |
9: 40,012,378 (GRCm39) |
M136K |
probably damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,235 (GRCm39) |
Y152* |
probably null |
Het |
Or6c69 |
A |
G |
10: 129,748,114 (GRCm39) |
I11T |
possibly damaging |
Het |
Pclo |
A |
C |
5: 14,726,408 (GRCm39) |
|
probably benign |
Het |
Pes1 |
G |
A |
11: 3,927,979 (GRCm39) |
E544K |
possibly damaging |
Het |
Rapgef2 |
T |
C |
3: 78,976,244 (GRCm39) |
M1521V |
probably benign |
Het |
Rapgef2 |
C |
T |
3: 79,011,269 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,245,403 (GRCm39) |
V735A |
probably benign |
Het |
Slc2a4 |
A |
G |
11: 69,835,902 (GRCm39) |
S316P |
possibly damaging |
Het |
Smarce1 |
C |
T |
11: 99,101,013 (GRCm39) |
G373E |
possibly damaging |
Het |
Spata31d1a |
T |
A |
13: 59,849,373 (GRCm39) |
R918S |
probably benign |
Het |
St3gal4 |
T |
C |
9: 34,963,627 (GRCm39) |
K227R |
probably benign |
Het |
Stra6l |
T |
A |
4: 45,864,864 (GRCm39) |
|
probably null |
Het |
Stxbp5l |
T |
C |
16: 37,036,341 (GRCm39) |
I425V |
probably damaging |
Het |
Tcaf2 |
T |
C |
6: 42,607,262 (GRCm39) |
T231A |
probably benign |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tnks |
A |
G |
8: 35,307,136 (GRCm39) |
Y1138H |
probably damaging |
Het |
Vezt |
T |
A |
10: 93,832,719 (GRCm39) |
I231F |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Zbed3 |
A |
G |
13: 95,473,142 (GRCm39) |
K189E |
possibly damaging |
Het |
Zfp512b |
T |
C |
2: 181,229,578 (GRCm39) |
T625A |
possibly damaging |
Het |
Zfp827 |
A |
T |
8: 79,787,362 (GRCm39) |
Q176L |
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 |
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 |
IGL03343:Rabgap1l
|
APN |
1 |
160,270,853 (GRCm39) |
missense |
probably benign |
|
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 |
2013-11-11 |