Incidental Mutation 'R7014:Rabgap1l'
| ID |
545153 |
| 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 |
045115-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7014 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 160169642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 60
(N60K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000028052]
[ENSMUST00000191651]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028049
AA Change: N768K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: N768K
| 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 |
possibly damaging
Transcript: ENSMUST00000028052
AA Change: N87K
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028052
Gene: ENSMUSG00000026721
AA Change: N87K
| 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 damaging
Transcript: ENSMUST00000191651
AA Change: N60K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141357
Gene: ENSMUSG00000026721
AA Change: N60K
| 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 |
|
| Meta Mutation Damage Score |
0.1466 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (80/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,278,198 (GRCm39) |
Q156* |
probably null |
Het |
| 2700097O09Rik |
A |
G |
12: 55,092,727 (GRCm39) |
I264T |
probably benign |
Het |
| Arid3a |
G |
T |
10: 79,786,718 (GRCm39) |
M488I |
possibly damaging |
Het |
| Auts2 |
A |
G |
5: 131,494,961 (GRCm39) |
F331S |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,158,532 (GRCm39) |
|
probably null |
Het |
| Bpifb5 |
C |
A |
2: 154,066,876 (GRCm39) |
S43* |
probably null |
Het |
| Carhsp1 |
A |
G |
16: 8,478,869 (GRCm39) |
V128A |
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
| Cdk6 |
C |
G |
5: 3,523,152 (GRCm39) |
L191V |
probably damaging |
Het |
| Cgnl1 |
T |
G |
9: 71,632,416 (GRCm39) |
K312Q |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,557,277 (GRCm39) |
E225G |
probably damaging |
Het |
| Copg1 |
T |
A |
6: 87,879,322 (GRCm39) |
L456Q |
probably damaging |
Het |
| Ctif |
T |
A |
18: 75,570,279 (GRCm39) |
D540V |
possibly damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,569,241 (GRCm39) |
I917T |
probably benign |
Het |
| Cyth1 |
T |
C |
11: 118,103,477 (GRCm39) |
D9G |
probably benign |
Het |
| Dnajb1 |
T |
C |
8: 84,336,884 (GRCm39) |
I118T |
probably damaging |
Het |
| Ebna1bp2 |
T |
A |
4: 118,480,575 (GRCm39) |
Y139* |
probably null |
Het |
| Efcab3 |
A |
G |
11: 104,584,248 (GRCm39) |
T100A |
probably benign |
Het |
| Fam162a |
A |
T |
16: 35,870,302 (GRCm39) |
V59E |
probably damaging |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Fmo6 |
C |
G |
1: 162,753,877 (GRCm39) |
R112T |
probably benign |
Het |
| Gm17087 |
T |
A |
17: 8,785,304 (GRCm39) |
D133V |
probably benign |
Het |
| Gm42669 |
A |
G |
5: 107,656,142 (GRCm39) |
I802V |
probably benign |
Het |
| Gp2 |
T |
C |
7: 119,050,868 (GRCm39) |
N288D |
probably damaging |
Het |
| Gstm7 |
C |
T |
3: 107,834,278 (GRCm39) |
D196N |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,553,865 (GRCm39) |
V201D |
probably damaging |
Het |
| Il20ra |
T |
C |
10: 19,588,458 (GRCm39) |
L26P |
unknown |
Het |
| Itpr1 |
T |
A |
6: 108,408,459 (GRCm39) |
|
probably null |
Het |
| Kcns3 |
A |
T |
12: 11,141,688 (GRCm39) |
I337N |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,375,475 (GRCm39) |
Y128H |
probably damaging |
Het |
| Kirrel2 |
A |
G |
7: 30,153,999 (GRCm39) |
I200T |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,450,502 (GRCm39) |
I294N |
probably damaging |
Het |
| Map1a |
A |
C |
2: 121,130,720 (GRCm39) |
N512T |
probably damaging |
Het |
| Marchf8 |
C |
G |
6: 116,380,504 (GRCm39) |
C118W |
probably damaging |
Het |
| Marchf8 |
T |
G |
6: 116,380,505 (GRCm39) |
C119G |
probably damaging |
Het |
| Mrpl38 |
G |
T |
11: 116,025,741 (GRCm39) |
P195Q |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,525,947 (GRCm39) |
Q27L |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,569,532 (GRCm39) |
T996S |
unknown |
Het |
| Mug1 |
C |
T |
6: 121,838,084 (GRCm39) |
A438V |
probably benign |
Het |
| Mup7 |
T |
A |
4: 60,069,866 (GRCm39) |
I33F |
probably damaging |
Het |
| Ndufa5 |
C |
T |
6: 24,519,190 (GRCm39) |
|
probably null |
Het |
| Or2b7 |
A |
G |
13: 21,740,108 (GRCm39) |
F28S |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,334,206 (GRCm39) |
F60Y |
probably benign |
Het |
| Or5w17 |
T |
C |
2: 87,584,215 (GRCm39) |
I41V |
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,476,320 (GRCm39) |
L49Q |
probably damaging |
Het |
| Or7e177 |
T |
A |
9: 20,211,959 (GRCm39) |
C154* |
probably null |
Het |
| Parp9 |
T |
A |
16: 35,780,433 (GRCm39) |
|
probably null |
Het |
| Pate8 |
C |
A |
9: 36,493,854 (GRCm39) |
W26C |
unknown |
Het |
| Pbx1 |
T |
A |
1: 168,258,949 (GRCm39) |
D42V |
probably damaging |
Het |
| Pde4dip |
G |
T |
3: 97,622,738 (GRCm39) |
N1490K |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,372,647 (GRCm39) |
N2496S |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,373,061 (GRCm39) |
M2358T |
probably benign |
Het |
| Pglyrp2 |
C |
A |
17: 32,634,904 (GRCm39) |
C486F |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,114,931 (GRCm39) |
|
probably benign |
Het |
| Pknox2 |
T |
A |
9: 36,820,963 (GRCm39) |
T300S |
probably damaging |
Het |
| Plekhm3 |
A |
G |
1: 64,922,429 (GRCm39) |
I582T |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,799,267 (GRCm39) |
Y766H |
possibly damaging |
Het |
| Prxl2a |
T |
C |
14: 40,724,451 (GRCm39) |
E71G |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,450,575 (GRCm39) |
E901G |
probably benign |
Het |
| Rnf150 |
C |
T |
8: 83,769,292 (GRCm39) |
T359I |
probably benign |
Het |
| Rps6ka2 |
C |
T |
17: 7,523,331 (GRCm39) |
H236Y |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,268,401 (GRCm39) |
L120Q |
probably damaging |
Het |
| Scn7a |
C |
A |
2: 66,572,303 (GRCm39) |
G223C |
probably null |
Het |
| Sema6a |
T |
A |
18: 47,431,284 (GRCm39) |
N138I |
probably damaging |
Het |
| Septin5 |
T |
A |
16: 18,443,659 (GRCm39) |
I97F |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,804,234 (GRCm39) |
E225D |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,511,792 (GRCm39) |
C124R |
probably damaging |
Het |
| Slc37a2 |
C |
T |
9: 37,145,183 (GRCm39) |
A428T |
probably damaging |
Het |
| Slc5a12 |
A |
G |
2: 110,474,709 (GRCm39) |
I538V |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,751,506 (GRCm39) |
|
probably null |
Het |
| Smarcad1 |
T |
C |
6: 65,029,654 (GRCm39) |
S81P |
probably damaging |
Het |
| Smyd1 |
T |
C |
6: 71,215,611 (GRCm39) |
D116G |
probably damaging |
Het |
| Themis |
T |
C |
10: 28,665,703 (GRCm39) |
Y589H |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,132,543 (GRCm39) |
K248R |
probably benign |
Het |
| Tspan12 |
C |
T |
6: 21,772,918 (GRCm39) |
M210I |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,289 (GRCm39) |
Y405C |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,042,775 (GRCm39) |
|
probably null |
Het |
| Wiz |
C |
A |
17: 32,580,840 (GRCm39) |
A83S |
probably damaging |
Het |
| Zfp1002 |
A |
T |
2: 150,097,182 (GRCm39) |
C82* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 127,017,337 (GRCm39) |
Y947* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAATGGTGAAGTCTAGGCG -3'
(R):5'- TGCAGGGATCCATTATTATAGTCTCC -3'
Sequencing Primer
(F):5'- TCTAGGCGAGAAGAGTGTGTACAC -3'
(R):5'- AGGATTTATTTCTGTATGTCTCATGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation