Incidental Mutation 'R4743:Rabgap1l'
ID |
358163 |
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 |
041967-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4743 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 160281353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 623
(Q623K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
|
AlphaFold |
A6H6A9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028049
AA Change: Q623K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000028049 Gene: ENSMUSG00000026721 AA Change: Q623K
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 |
noncoding transcript
Transcript: ENSMUST00000194696
|
Meta Mutation Damage Score |
0.6534 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
98% (44/45) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
A |
G |
1: 85,858,972 (GRCm39) |
|
probably benign |
Het |
Ahcy |
T |
C |
2: 154,910,888 (GRCm39) |
N27D |
probably damaging |
Het |
Akap9 |
T |
G |
5: 4,011,013 (GRCm39) |
L572R |
probably damaging |
Het |
Akna |
A |
G |
4: 63,296,850 (GRCm39) |
S909P |
probably damaging |
Het |
Atr |
A |
G |
9: 95,744,845 (GRCm39) |
E54G |
probably benign |
Het |
Baz2b |
A |
G |
2: 59,744,255 (GRCm39) |
S1417P |
probably benign |
Het |
Colgalt2 |
A |
G |
1: 152,276,094 (GRCm39) |
Y69C |
probably damaging |
Het |
Comp |
A |
G |
8: 70,828,711 (GRCm39) |
E181G |
probably damaging |
Het |
Dcaf10 |
T |
A |
4: 45,370,409 (GRCm39) |
S326T |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,631,256 (GRCm39) |
E253G |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Epha1 |
G |
T |
6: 42,349,155 (GRCm39) |
T36K |
probably benign |
Het |
Ewsr1 |
A |
T |
11: 5,033,541 (GRCm39) |
D210E |
unknown |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,991,111 (GRCm39) |
R862* |
probably null |
Het |
Gbp8 |
T |
C |
5: 105,178,707 (GRCm39) |
K203E |
possibly damaging |
Het |
Gigyf2 |
T |
A |
1: 87,292,970 (GRCm39) |
L79* |
probably null |
Het |
Gm8220 |
T |
A |
14: 44,523,152 (GRCm39) |
|
probably benign |
Het |
Gm9755 |
A |
T |
8: 67,966,929 (GRCm39) |
|
noncoding transcript |
Het |
Il6 |
T |
C |
5: 30,223,042 (GRCm39) |
Y120H |
probably damaging |
Het |
Kcnma1 |
T |
C |
14: 23,853,270 (GRCm39) |
T2A |
probably damaging |
Het |
Mroh9 |
T |
C |
1: 162,852,061 (GRCm39) |
Y876C |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,878,548 (GRCm39) |
Y601C |
probably damaging |
Het |
Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 79,080,375 (GRCm39) |
Y109C |
probably damaging |
Het |
Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Slain2 |
T |
A |
5: 73,114,927 (GRCm39) |
L386* |
probably null |
Het |
Slc4a7 |
A |
G |
14: 14,796,073 (GRCm38) |
|
probably null |
Het |
Slco1c1 |
T |
C |
6: 141,510,242 (GRCm39) |
C582R |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,906,517 (GRCm39) |
N520D |
probably benign |
Het |
Tbc1d7 |
A |
G |
13: 43,323,325 (GRCm39) |
V22A |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,327,910 (GRCm39) |
V612A |
probably damaging |
Het |
Trpv2 |
A |
G |
11: 62,483,627 (GRCm39) |
E488G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Uspl1 |
A |
G |
5: 149,146,566 (GRCm39) |
Y439C |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,661,054 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGACAGGCAGATGTTGTG -3'
(R):5'- TCCGCTGCACGTATATGGAC -3'
Sequencing Primer
(F):5'- CAGGCAGATGTTGTGTCTTGGAAAC -3'
(R):5'- CTGCACGTATATGGACCCAAATGG -3'
|
Posted On |
2015-11-11 |