Incidental Mutation 'R9286:Rabgap1l'
| ID |
703896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1l
|
| Ensembl Gene |
ENSMUSG00000026721 |
| Gene Name |
RAB GTPase activating protein 1-like |
| Synonyms |
5830411O09Rik, 9630005B12Rik, Hh1, 8430421H08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 160051818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 361
(Q361*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028052]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028052
AA Change: Q361*
|
| SMART Domains |
Protein: ENSMUSP00000028052
Gene: ENSMUSG00000026721
AA Change: Q361*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
54 |
100 |
8e-16 |
BLAST |
|
PDB:3HZJ|C
|
54 |
130 |
9e-35 |
PDB |
|
Blast:TBC
|
113 |
176 |
2e-24 |
BLAST |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
coiled coil region
|
281 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193185
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
G |
C |
15: 91,058,827 (GRCm39) |
P539R |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,794,413 (GRCm39) |
D478V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,594,520 (GRCm39) |
Y4165N |
probably damaging |
Het |
| Ago2 |
A |
G |
15: 72,997,065 (GRCm39) |
L326P |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,119,254 (GRCm39) |
K1107T |
possibly damaging |
Het |
| Ank2 |
C |
T |
3: 126,846,381 (GRCm39) |
A205T |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,326,869 (GRCm39) |
V738A |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,480,150 (GRCm39) |
K291R |
probably benign |
Het |
| Cacna1e |
G |
T |
1: 154,288,845 (GRCm39) |
P1847T |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cps1 |
T |
G |
1: 67,198,030 (GRCm39) |
M365R |
probably damaging |
Het |
| Ctc1 |
T |
G |
11: 68,917,180 (GRCm39) |
|
probably null |
Het |
| Cyp2b10 |
G |
T |
7: 25,616,391 (GRCm39) |
G333C |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,443,403 (GRCm39) |
E455G |
probably damaging |
Het |
| Daam2 |
A |
T |
17: 49,786,922 (GRCm39) |
D539E |
possibly damaging |
Het |
| Dip2a |
T |
A |
10: 76,138,096 (GRCm39) |
Y370F |
probably benign |
Het |
| Dok5 |
G |
A |
2: 170,672,099 (GRCm39) |
E134K |
possibly damaging |
Het |
| Dync2h1 |
C |
T |
9: 6,941,668 (GRCm39) |
A4164T |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,683,696 (GRCm39) |
Y558C |
|
Het |
| Eif3b |
A |
G |
5: 140,411,064 (GRCm39) |
I172V |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,873,414 (GRCm38) |
F237L |
probably damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,647,639 (GRCm39) |
I429V |
probably damaging |
Het |
| Grik1 |
T |
C |
16: 87,848,315 (GRCm39) |
Y151C |
|
Het |
| Gys2 |
C |
A |
6: 142,376,037 (GRCm39) |
V542L |
possibly damaging |
Het |
| Hmx1 |
A |
G |
5: 35,546,776 (GRCm39) |
T106A |
probably benign |
Het |
| Il1rap |
T |
C |
16: 26,517,604 (GRCm39) |
V268A |
possibly damaging |
Het |
| Kansl3 |
T |
C |
1: 36,387,720 (GRCm39) |
T543A |
probably benign |
Het |
| Kcnk1 |
T |
A |
8: 126,752,148 (GRCm39) |
|
probably null |
Het |
| Larp7 |
CCTTCTT |
CCTT |
3: 127,340,008 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,740,844 (GRCm39) |
F449L |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,712 (GRCm39) |
E229G |
probably damaging |
Het |
| Loxl4 |
A |
T |
19: 42,586,047 (GRCm39) |
V699E |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,273,609 (GRCm39) |
D489G |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,060,573 (GRCm39) |
H748L |
probably benign |
Het |
| Nudcd2 |
T |
A |
11: 40,627,403 (GRCm39) |
Y108N |
probably damaging |
Het |
| Or10g1 |
G |
A |
14: 52,648,075 (GRCm39) |
R85* |
probably null |
Het |
| Or52b2 |
A |
C |
7: 104,985,971 (GRCm39) |
C317W |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,479,791 (GRCm39) |
I28N |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,422 (GRCm39) |
V404E |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,607,183 (GRCm39) |
D2084G |
probably damaging |
Het |
| Phf20 |
A |
T |
2: 156,134,470 (GRCm39) |
K552M |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,331,976 (GRCm39) |
D854G |
probably benign |
Het |
| Psen1 |
A |
G |
12: 83,775,549 (GRCm39) |
N316D |
probably benign |
Het |
| Ralb |
A |
T |
1: 119,399,544 (GRCm39) |
D171E |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,682,947 (GRCm39) |
I355T |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,995,849 (GRCm39) |
K211E |
probably benign |
Het |
| Scg2 |
A |
G |
1: 79,413,653 (GRCm39) |
S357P |
probably damaging |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
T |
9: 78,445,566 (GRCm39) |
W456R |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,191,932 (GRCm39) |
D967E |
probably damaging |
Het |
| Spryd3 |
A |
T |
15: 102,041,869 (GRCm39) |
V51E |
possibly damaging |
Het |
| Tgfbi |
A |
G |
13: 56,773,563 (GRCm39) |
H187R |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,252,643 (GRCm39) |
E348G |
probably damaging |
Het |
| Tmem45a2 |
A |
G |
16: 56,867,332 (GRCm39) |
I123T |
probably damaging |
Het |
| Tonsl |
G |
A |
15: 76,515,213 (GRCm39) |
H1058Y |
probably damaging |
Het |
| Trav13d-1 |
A |
G |
14: 53,089,050 (GRCm39) |
K20E |
probably benign |
Het |
| Trpm2 |
C |
A |
10: 77,777,014 (GRCm39) |
V428L |
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,904,864 (GRCm39) |
Y810C |
probably damaging |
Het |
| Vmn1r40 |
T |
A |
6: 89,692,079 (GRCm39) |
F299I |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,499,175 (GRCm39) |
F430L |
probably benign |
Het |
| Vps13c |
G |
A |
9: 67,880,203 (GRCm39) |
V3462I |
probably benign |
Het |
| Zfp955b |
T |
C |
17: 33,521,683 (GRCm39) |
I384T |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,783,812 (GRCm39) |
D1138G |
probably 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 |
|
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 |
|
Z1177:Rabgap1l
|
UTSW |
1 |
160,566,643 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGTCAGTTTAAATAACATCCC -3'
(R):5'- GGCCTGGTGAATTTAAACAGC -3'
Sequencing Primer
(F):5'- CTTCAAAGGGACAACAGGA -3'
(R):5'- GCCTGGTGAATTTAAACAGCATCTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation