Incidental Mutation 'IGL03388:Rabgap1l'
| ID |
420965 |
| 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 # |
IGL03388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 160561093 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 null
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 null
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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
C |
11: 117,693,596 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,801 (GRCm39) |
K340R |
possibly damaging |
Het |
| Ccr3 |
A |
G |
9: 123,828,658 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,560,992 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
T |
A |
1: 118,433,233 (GRCm39) |
D237E |
possibly damaging |
Het |
| Ddx18 |
T |
C |
1: 121,493,652 (GRCm39) |
K111E |
possibly damaging |
Het |
| Defa21 |
T |
C |
8: 21,515,764 (GRCm39) |
L54P |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,416,208 (GRCm39) |
V486A |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,838,368 (GRCm39) |
D3143V |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,131,916 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,702,105 (GRCm39) |
Y510C |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,663,716 (GRCm39) |
V271A |
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,799,113 (GRCm39) |
V460A |
probably benign |
Het |
| Hspa8 |
T |
C |
9: 40,716,224 (GRCm39) |
|
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,151,356 (GRCm39) |
E166G |
probably damaging |
Het |
| Il31ra |
C |
A |
13: 112,682,746 (GRCm39) |
S120I |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,060 (GRCm39) |
T1323A |
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,854,247 (GRCm39) |
I346F |
probably damaging |
Het |
| Lgi2 |
T |
C |
5: 52,695,819 (GRCm39) |
D372G |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,923,157 (GRCm39) |
S1187A |
probably benign |
Het |
| Nr1d2 |
A |
G |
14: 18,215,403 (GRCm38) |
F203S |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,077,351 (GRCm39) |
V896I |
probably damaging |
Het |
| Nxf7 |
T |
C |
X: 134,485,489 (GRCm39) |
K440E |
probably damaging |
Het |
| Or6c206 |
A |
T |
10: 129,097,312 (GRCm39) |
I161F |
probably benign |
Het |
| Or9i1b |
T |
A |
19: 13,896,984 (GRCm39) |
V200D |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,469,190 (GRCm39) |
S20P |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,372,511 (GRCm39) |
|
probably benign |
Het |
| Pi15 |
G |
A |
1: 17,673,001 (GRCm39) |
A67T |
probably benign |
Het |
| Pnp2 |
A |
T |
14: 51,200,995 (GRCm39) |
N160I |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,069 (GRCm39) |
|
probably benign |
Het |
| Rnf115 |
G |
A |
3: 96,695,984 (GRCm39) |
V257M |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,127,071 (GRCm39) |
V346D |
probably benign |
Het |
| Rubcn |
A |
T |
16: 32,661,938 (GRCm39) |
N427K |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sel1l2 |
A |
C |
2: 140,105,284 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,459,042 (GRCm39) |
L472* |
probably null |
Het |
| Slc5a5 |
A |
G |
8: 71,342,972 (GRCm39) |
V196A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,316,686 (GRCm39) |
L207H |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,157,344 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,720,907 (GRCm39) |
K1409R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,797,481 (GRCm39) |
A528T |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,142,343 (GRCm39) |
I1310T |
probably damaging |
Het |
| Ypel5 |
T |
C |
17: 73,153,400 (GRCm39) |
F35L |
probably damaging |
Het |
| Zfp13 |
G |
T |
17: 23,795,888 (GRCm39) |
R228S |
probably benign |
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 |
|
IGL03343:Rabgap1l
|
APN |
1 |
160,270,853 (GRCm39) |
missense |
probably benign |
|
|
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 |
Incidental Mutation