Incidental Mutation 'R0099:Rabgap1l'
ID |
33130 |
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 |
038385-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0099 (G1)
|
Quality Score |
128 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 160509686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 436
(S436P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000195442]
|
AlphaFold |
A6H6A9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028049
AA Change: S464P
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000028049 Gene: ENSMUSG00000026721 AA Change: S464P
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: ENSMUST00000195442
AA Change: S436P
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141666 Gene: ENSMUSG00000026721 AA Change: S436P
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 |
|
Meta Mutation Damage Score |
0.1137 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
100% (65/65) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930018M24Rik |
C |
T |
14: 51,134,179 (GRCm39) |
|
probably benign |
Het |
Aadacl2fm1 |
A |
C |
3: 59,843,856 (GRCm39) |
K183N |
probably benign |
Het |
Acad10 |
A |
C |
5: 121,759,353 (GRCm39) |
D1043E |
probably damaging |
Het |
Adamtsl4 |
C |
T |
3: 95,591,449 (GRCm39) |
G173R |
probably benign |
Het |
Astn1 |
G |
T |
1: 158,329,721 (GRCm39) |
S192I |
probably damaging |
Het |
Atg2a |
T |
A |
19: 6,302,819 (GRCm39) |
V1010E |
probably damaging |
Het |
Col11a2 |
A |
G |
17: 34,268,648 (GRCm39) |
E311G |
probably damaging |
Het |
Col4a3 |
A |
C |
1: 82,695,714 (GRCm39) |
E1638A |
probably benign |
Het |
Cstf2t |
A |
G |
19: 31,061,231 (GRCm39) |
R256G |
probably benign |
Het |
Cyp4a12a |
T |
C |
4: 115,183,869 (GRCm39) |
L225P |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,240,080 (GRCm39) |
R479H |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,673,079 (GRCm39) |
I917V |
probably benign |
Het |
Fam76a |
G |
T |
4: 132,638,098 (GRCm39) |
|
probably benign |
Het |
Fras1 |
T |
A |
5: 96,762,776 (GRCm39) |
|
probably null |
Het |
Gli1 |
A |
G |
10: 127,171,875 (GRCm39) |
V293A |
probably damaging |
Het |
Gm10782 |
T |
A |
13: 56,510,956 (GRCm39) |
|
noncoding transcript |
Het |
Greb1l |
A |
G |
18: 10,509,158 (GRCm39) |
E490G |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,316,193 (GRCm39) |
G4362R |
probably damaging |
Het |
Ica1 |
A |
T |
6: 8,749,778 (GRCm39) |
|
probably benign |
Het |
Ikzf4 |
T |
A |
10: 128,470,066 (GRCm39) |
I485F |
probably damaging |
Het |
Irf5 |
A |
G |
6: 29,533,966 (GRCm39) |
T34A |
probably damaging |
Het |
Krt81 |
A |
T |
15: 101,361,402 (GRCm39) |
C59* |
probably null |
Het |
Kynu |
T |
A |
2: 43,519,065 (GRCm39) |
|
probably null |
Het |
Ly6g6c |
T |
C |
17: 35,287,891 (GRCm39) |
V61A |
probably damaging |
Het |
Manea |
A |
C |
4: 26,328,104 (GRCm39) |
I312M |
probably damaging |
Het |
Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
Mthfs |
A |
T |
9: 89,108,216 (GRCm39) |
|
probably benign |
Het |
Myh4 |
A |
G |
11: 67,150,173 (GRCm39) |
T1877A |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
Nepn |
A |
G |
10: 52,277,181 (GRCm39) |
S306G |
probably damaging |
Het |
Nol8 |
T |
C |
13: 49,826,165 (GRCm39) |
V995A |
probably benign |
Het |
Or5b101 |
A |
G |
19: 13,005,165 (GRCm39) |
F176S |
probably damaging |
Het |
Or5b105 |
T |
A |
19: 13,080,504 (GRCm39) |
T49S |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,750 (GRCm39) |
V275E |
probably damaging |
Het |
Or8g4 |
A |
G |
9: 39,661,957 (GRCm39) |
I92V |
possibly damaging |
Het |
Pde1a |
T |
A |
2: 79,698,657 (GRCm39) |
|
probably null |
Het |
Phf14 |
A |
G |
6: 11,987,696 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
C |
T |
17: 84,899,100 (GRCm39) |
Q1026* |
probably null |
Het |
Polr2b |
T |
A |
5: 77,468,797 (GRCm39) |
|
probably benign |
Het |
Ppp1r36 |
G |
T |
12: 76,483,056 (GRCm39) |
|
probably null |
Het |
Prdm14 |
A |
T |
1: 13,189,169 (GRCm39) |
C392S |
probably damaging |
Het |
Rfc2 |
A |
T |
5: 134,624,135 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
T |
10: 84,730,168 (GRCm39) |
M437L |
probably benign |
Het |
Rgs17 |
T |
A |
10: 5,792,583 (GRCm39) |
R74S |
probably benign |
Het |
Rnf139 |
C |
A |
15: 58,771,264 (GRCm39) |
L430I |
probably damaging |
Het |
Sgsm1 |
C |
A |
5: 113,422,226 (GRCm39) |
|
probably benign |
Het |
Skint6 |
T |
A |
4: 112,668,698 (GRCm39) |
T1126S |
possibly damaging |
Het |
Slc15a2 |
T |
C |
16: 36,573,398 (GRCm39) |
E602G |
probably damaging |
Het |
Stpg2 |
T |
C |
3: 138,948,954 (GRCm39) |
|
probably benign |
Het |
Sycp2l |
T |
C |
13: 41,283,001 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
A |
T |
14: 50,598,275 (GRCm39) |
N87I |
probably benign |
Het |
Tril |
A |
G |
6: 53,795,348 (GRCm39) |
F625L |
probably damaging |
Het |
Ube3c |
T |
A |
5: 29,812,062 (GRCm39) |
V434E |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,313,111 (GRCm39) |
G533R |
probably damaging |
Het |
Utp25 |
A |
G |
1: 192,810,778 (GRCm39) |
L75P |
probably damaging |
Het |
Zfp93 |
G |
T |
7: 23,974,900 (GRCm39) |
R295L |
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 |
|
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2013-05-09 |