Incidental Mutation 'R0047:Rabgap1l'
ID |
16206 |
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 |
038341-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0047 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 160059359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028052]
|
AlphaFold |
A6H6A9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028052
|
SMART Domains |
Protein: ENSMUSP00000028052 Gene: ENSMUSG00000026721
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 |
noncoding transcript
Transcript: ENSMUST00000192019
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194623
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194824
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.3%
- 10x: 78.8%
- 20x: 65.9%
|
Validation Efficiency |
95% (110/116) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,772,025 (GRCm39) |
T405A |
probably damaging |
Het |
Acer1 |
A |
T |
17: 57,262,624 (GRCm39) |
D175E |
possibly damaging |
Het |
Adamts9 |
G |
A |
6: 92,882,287 (GRCm39) |
|
probably benign |
Het |
Amigo3 |
T |
C |
9: 107,931,857 (GRCm39) |
S427P |
probably benign |
Het |
Arid4a |
T |
G |
12: 71,122,193 (GRCm39) |
L858W |
probably damaging |
Het |
Bbox1 |
A |
G |
2: 110,098,647 (GRCm39) |
F310S |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,962,341 (GRCm39) |
L481M |
possibly damaging |
Het |
Bmper |
T |
A |
9: 23,317,982 (GRCm39) |
C534S |
probably damaging |
Het |
Cacna1d |
T |
G |
14: 30,068,747 (GRCm39) |
|
probably benign |
Het |
Capn12 |
G |
A |
7: 28,589,812 (GRCm39) |
|
probably null |
Het |
Chchd1 |
T |
C |
14: 20,754,231 (GRCm39) |
S48P |
possibly damaging |
Het |
Cnot7 |
A |
G |
8: 40,948,962 (GRCm39) |
|
probably benign |
Het |
Cux1 |
T |
C |
5: 136,392,107 (GRCm39) |
|
probably benign |
Het |
Cyp2b19 |
T |
A |
7: 26,466,251 (GRCm39) |
D351E |
probably benign |
Het |
Dctn1 |
G |
T |
6: 83,159,614 (GRCm39) |
G31* |
probably null |
Het |
Duox1 |
T |
A |
2: 122,177,122 (GRCm39) |
|
probably benign |
Het |
Egflam |
T |
G |
15: 7,282,911 (GRCm39) |
E382A |
possibly damaging |
Het |
Ext1 |
T |
C |
15: 53,208,542 (GRCm39) |
N73S |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,892,214 (GRCm39) |
M866K |
probably damaging |
Het |
Gm3333 |
A |
G |
13: 62,422,285 (GRCm39) |
|
noncoding transcript |
Het |
Golm1 |
T |
A |
13: 59,792,914 (GRCm39) |
H197L |
probably benign |
Het |
Gtse1 |
A |
G |
15: 85,746,579 (GRCm39) |
K132E |
probably damaging |
Het |
Gxylt2 |
A |
T |
6: 100,710,339 (GRCm39) |
|
probably benign |
Het |
Hrc |
T |
A |
7: 44,986,113 (GRCm39) |
S421R |
probably benign |
Het |
Ighg2c |
T |
A |
12: 113,251,788 (GRCm39) |
|
probably benign |
Het |
Ihh |
A |
G |
1: 74,985,750 (GRCm39) |
I245T |
probably benign |
Het |
Ilf3 |
T |
A |
9: 21,300,010 (GRCm39) |
M65K |
possibly damaging |
Het |
Kif9 |
A |
G |
9: 110,314,106 (GRCm39) |
I33V |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,102,181 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,328,600 (GRCm39) |
I188T |
possibly damaging |
Het |
Lpp |
T |
A |
16: 24,480,550 (GRCm39) |
|
probably benign |
Het |
Mark2 |
A |
C |
19: 7,260,942 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
T |
C |
9: 7,451,910 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,928,727 (GRCm39) |
|
probably benign |
Het |
Mtr |
A |
T |
13: 12,237,112 (GRCm39) |
S569T |
probably damaging |
Het |
Myh13 |
T |
A |
11: 67,258,063 (GRCm39) |
S1752T |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,063,489 (GRCm39) |
L565H |
probably damaging |
Het |
Numa1 |
A |
G |
7: 101,658,660 (GRCm39) |
K296E |
probably damaging |
Het |
Obi1 |
T |
A |
14: 104,740,780 (GRCm39) |
|
probably null |
Het |
Or51ab3 |
A |
T |
7: 103,201,529 (GRCm39) |
Y179F |
probably damaging |
Het |
Or5ac19 |
C |
T |
16: 59,089,574 (GRCm39) |
G152D |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,479,953 (GRCm39) |
E82G |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,470,901 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
A |
T |
2: 24,901,618 (GRCm39) |
E548V |
probably damaging |
Het |
Ppm1m |
C |
A |
9: 106,073,895 (GRCm39) |
E273* |
probably null |
Het |
Ppp2r1b |
C |
T |
9: 50,772,873 (GRCm39) |
R117* |
probably null |
Het |
Psg-ps1 |
A |
G |
7: 17,411,806 (GRCm39) |
|
noncoding transcript |
Het |
Rapgef6 |
T |
A |
11: 54,437,204 (GRCm39) |
M49K |
possibly damaging |
Het |
Rtel1 |
T |
G |
2: 180,965,198 (GRCm39) |
I146M |
probably damaging |
Het |
Sdr9c7 |
A |
T |
10: 127,739,541 (GRCm39) |
M219L |
probably benign |
Het |
Serpinb1a |
A |
T |
13: 33,034,259 (GRCm39) |
L44Q |
probably damaging |
Het |
Slc13a4 |
A |
G |
6: 35,264,297 (GRCm39) |
I190T |
possibly damaging |
Het |
Slc46a2 |
A |
G |
4: 59,914,392 (GRCm39) |
L177P |
probably damaging |
Het |
Slc47a2 |
C |
T |
11: 61,227,068 (GRCm39) |
V167M |
possibly damaging |
Het |
Snrnp200 |
C |
T |
2: 127,076,874 (GRCm39) |
|
probably benign |
Het |
Snx13 |
C |
A |
12: 35,151,123 (GRCm39) |
|
probably benign |
Het |
Snx25 |
C |
T |
8: 46,494,402 (GRCm39) |
A828T |
probably damaging |
Het |
Spic |
A |
G |
10: 88,511,803 (GRCm39) |
L151P |
probably damaging |
Het |
Sptb |
G |
T |
12: 76,669,724 (GRCm39) |
Q535K |
probably damaging |
Het |
Ssu2 |
G |
A |
6: 112,351,781 (GRCm39) |
H315Y |
probably damaging |
Het |
Stk32a |
T |
C |
18: 43,446,443 (GRCm39) |
|
probably benign |
Het |
Tcaf2 |
A |
G |
6: 42,606,547 (GRCm39) |
I469T |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,147,954 (GRCm39) |
|
probably benign |
Het |
Top2a |
T |
A |
11: 98,888,682 (GRCm39) |
I1260L |
probably benign |
Het |
Treml1 |
C |
A |
17: 48,672,008 (GRCm39) |
S91* |
probably null |
Het |
Trmt11 |
T |
C |
10: 30,411,239 (GRCm39) |
N418S |
probably benign |
Het |
Ttf1 |
A |
G |
2: 28,974,667 (GRCm39) |
Y801C |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,414,403 (GRCm39) |
A2782V |
probably benign |
Het |
Vps4a |
T |
C |
8: 107,763,333 (GRCm39) |
L29P |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,091,899 (GRCm39) |
I480T |
probably damaging |
Het |
Ywhag |
A |
T |
5: 135,940,153 (GRCm39) |
V147E |
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 |
|
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 |
2013-01-08 |