Incidental Mutation 'R6945:Rabgap1l'
| ID |
540821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1l
|
| Ensembl Gene |
ENSMUSG00000026721 |
| Gene Name |
RAB GTPase activating protein 1-like |
| Synonyms |
Hh1, 8430421H08Rik, 5830411O09Rik, 9630005B12Rik |
| MMRRC Submission |
045059-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6945 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160219174-160793211 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 160682182 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 442
(S442P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000195442]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028049
AA Change: S442P
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: S442P
| 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 |
probably benign
Transcript: ENSMUST00000195442
AA Change: S414P
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: S414P
| 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 |
0.0890 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
96% (51/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430403G16Rik |
A |
C |
5: 109,676,845 (GRCm38) |
N246K |
probably benign |
Het |
| AA792892 |
C |
T |
5: 94,383,631 (GRCm38) |
H125Y |
possibly damaging |
Het |
| Abcc5 |
T |
A |
16: 20,400,009 (GRCm38) |
T208S |
probably benign |
Het |
| Acaa2 |
A |
G |
18: 74,793,309 (GRCm38) |
E112G |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,550,024 (GRCm38) |
N881S |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,420,399 (GRCm38) |
E443G |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,410,844 (GRCm38) |
E314G |
probably benign |
Het |
| Akp3 |
A |
G |
1: 87,125,631 (GRCm38) |
Y102C |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,579,531 (GRCm38) |
N618S |
probably benign |
Het |
| Bpifc |
A |
G |
10: 85,979,214 (GRCm38) |
V296A |
probably benign |
Het |
| Cacna2d3 |
G |
A |
14: 28,969,318 (GRCm38) |
|
probably benign |
Het |
| Cacnb4 |
T |
C |
2: 52,474,954 (GRCm38) |
N99S |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 43,908,006 (GRCm38) |
Y283C |
probably damaging |
Het |
| Celf4 |
T |
A |
18: 25,496,236 (GRCm38) |
Q411L |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,998,547 (GRCm38) |
H108Q |
probably damaging |
Het |
| Col23a1 |
A |
G |
11: 51,561,893 (GRCm38) |
E225G |
unknown |
Het |
| Dnah11 |
T |
C |
12: 118,060,310 (GRCm38) |
E1902G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,190,490 (GRCm38) |
D2063G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,992,840 (GRCm38) |
I6306L |
probably benign |
Het |
| Furin |
A |
G |
7: 80,391,090 (GRCm38) |
S667P |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,325,832 (GRCm38) |
S92R |
probably benign |
Het |
| Gm11563 |
C |
G |
11: 99,658,472 (GRCm38) |
C152S |
unknown |
Het |
| Gm3486 |
A |
G |
14: 41,484,561 (GRCm38) |
V185A |
probably benign |
Het |
| Gm4070 |
G |
A |
7: 105,901,980 (GRCm38) |
Q622* |
probably null |
Het |
| Hyal1 |
C |
A |
9: 107,579,170 (GRCm38) |
A102E |
probably damaging |
Het |
| Invs |
T |
C |
4: 48,421,785 (GRCm38) |
C806R |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,733,696 (GRCm38) |
V165A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 67,813,866 (GRCm38) |
T2666A |
|
Het |
| Lrit1 |
G |
C |
14: 37,060,095 (GRCm38) |
V242L |
probably damaging |
Het |
| Lrrc8a |
A |
G |
2: 30,256,227 (GRCm38) |
Y351C |
probably damaging |
Het |
| Myh7b |
T |
C |
2: 155,622,232 (GRCm38) |
F551S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,897,560 (GRCm38) |
T333A |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,760,788 (GRCm38) |
N387I |
probably damaging |
Het |
| Oas2 |
T |
C |
5: 120,736,139 (GRCm38) |
D543G |
probably benign |
Het |
| Olfr1040 |
A |
G |
2: 86,146,084 (GRCm38) |
S217P |
probably damaging |
Het |
| Olfr117 |
A |
G |
17: 37,659,514 (GRCm38) |
I273T |
possibly damaging |
Het |
| Pak7 |
A |
G |
2: 136,100,939 (GRCm38) |
V427A |
probably benign |
Het |
| Pfas |
G |
A |
11: 69,000,530 (GRCm38) |
A247V |
probably benign |
Het |
| Psat1 |
T |
A |
19: 15,917,181 (GRCm38) |
T115S |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,837,437 (GRCm38) |
D1077E |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,776,191 (GRCm38) |
M280T |
possibly damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,261,032 (GRCm38) |
E394D |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,789,390 (GRCm38) |
V271A |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 54,997,156 (GRCm38) |
N919K |
probably benign |
Het |
| Sftpd |
A |
G |
14: 41,174,492 (GRCm38) |
S245P |
possibly damaging |
Het |
| Slc22a15 |
T |
C |
3: 101,924,114 (GRCm38) |
E2G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,209,325 (GRCm38) |
D1134G |
possibly damaging |
Het |
| Syna |
A |
G |
5: 134,558,961 (GRCm38) |
V378A |
probably damaging |
Het |
| Tchp |
A |
G |
5: 114,709,350 (GRCm38) |
K77E |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,333,531 (GRCm38) |
N123S |
probably benign |
Het |
| Trio |
C |
T |
15: 27,824,090 (GRCm38) |
R1443Q |
probably damaging |
Het |
| Trrap |
A |
T |
5: 144,790,855 (GRCm38) |
Y462F |
possibly damaging |
Het |
| Vmn1r78 |
A |
G |
7: 12,152,905 (GRCm38) |
T148A |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 (GRCm38) |
N549S |
possibly damaging |
Het |
|
| Other mutations in Rabgap1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Rabgap1l
|
APN |
1 |
160,738,969 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01309:Rabgap1l
|
APN |
1 |
160,700,798 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01448:Rabgap1l
|
APN |
1 |
160,740,745 (GRCm38) |
splice site |
probably benign |
|
|
IGL01886:Rabgap1l
|
APN |
1 |
160,342,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02010:Rabgap1l
|
APN |
1 |
160,472,071 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02079:Rabgap1l
|
APN |
1 |
160,738,970 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02800:Rabgap1l
|
APN |
1 |
160,472,053 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL03343:Rabgap1l
|
APN |
1 |
160,443,283 (GRCm38) |
missense |
probably benign |
|
|
IGL03388:Rabgap1l
|
APN |
1 |
160,733,523 (GRCm38) |
splice site |
probably null |
|
|
IGL03406:Rabgap1l
|
APN |
1 |
160,722,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
amerigo
|
UTSW |
1 |
160,724,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
hispaniola
|
UTSW |
1 |
160,645,307 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0047:Rabgap1l
|
UTSW |
1 |
160,231,789 (GRCm38) |
splice site |
probably benign |
|
|
R0047:Rabgap1l
|
UTSW |
1 |
160,231,789 (GRCm38) |
splice site |
probably benign |
|
|
R0048:Rabgap1l
|
UTSW |
1 |
160,627,369 (GRCm38) |
splice site |
probably benign |
|
|
R0099:Rabgap1l
|
UTSW |
1 |
160,682,116 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0201:Rabgap1l
|
UTSW |
1 |
160,453,745 (GRCm38) |
splice site |
probably benign |
|
|
R0432:Rabgap1l
|
UTSW |
1 |
160,722,205 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1104:Rabgap1l
|
UTSW |
1 |
160,231,875 (GRCm38) |
splice site |
probably benign |
|
|
R1220:Rabgap1l
|
UTSW |
1 |
160,738,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1485:Rabgap1l
|
UTSW |
1 |
160,733,680 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1569:Rabgap1l
|
UTSW |
1 |
160,702,390 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1907:Rabgap1l
|
UTSW |
1 |
160,645,310 (GRCm38) |
missense |
probably benign |
0.07 |
|
R2128:Rabgap1l
|
UTSW |
1 |
160,738,957 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2129:Rabgap1l
|
UTSW |
1 |
160,738,957 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2177:Rabgap1l
|
UTSW |
1 |
160,724,062 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4636:Rabgap1l
|
UTSW |
1 |
160,342,090 (GRCm38) |
splice site |
probably null |
|
|
R4722:Rabgap1l
|
UTSW |
1 |
160,342,164 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4743:Rabgap1l
|
UTSW |
1 |
160,453,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4913:Rabgap1l
|
UTSW |
1 |
160,238,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4915:Rabgap1l
|
UTSW |
1 |
160,441,842 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5035:Rabgap1l
|
UTSW |
1 |
160,724,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5087:Rabgap1l
|
UTSW |
1 |
160,722,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5437:Rabgap1l
|
UTSW |
1 |
160,722,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5507:Rabgap1l
|
UTSW |
1 |
160,351,328 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5619:Rabgap1l
|
UTSW |
1 |
160,238,572 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5691:Rabgap1l
|
UTSW |
1 |
160,735,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5837:Rabgap1l
|
UTSW |
1 |
160,307,222 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5881:Rabgap1l
|
UTSW |
1 |
160,342,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6045:Rabgap1l
|
UTSW |
1 |
160,645,323 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6243:Rabgap1l
|
UTSW |
1 |
160,645,307 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6294:Rabgap1l
|
UTSW |
1 |
160,231,849 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6452:Rabgap1l
|
UTSW |
1 |
160,453,761 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6802:Rabgap1l
|
UTSW |
1 |
160,733,680 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7014:Rabgap1l
|
UTSW |
1 |
160,342,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7062:Rabgap1l
|
UTSW |
1 |
160,226,650 (GRCm38) |
missense |
probably benign |
|
|
R7089:Rabgap1l
|
UTSW |
1 |
160,724,172 (GRCm38) |
nonsense |
probably null |
|
|
R7170:Rabgap1l
|
UTSW |
1 |
160,645,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7172:Rabgap1l
|
UTSW |
1 |
160,733,586 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7303:Rabgap1l
|
UTSW |
1 |
160,682,097 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7357:Rabgap1l
|
UTSW |
1 |
160,342,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7466:Rabgap1l
|
UTSW |
1 |
160,226,484 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7501:Rabgap1l
|
UTSW |
1 |
160,700,788 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7565:Rabgap1l
|
UTSW |
1 |
160,251,417 (GRCm38) |
missense |
|
|
|
R7582:Rabgap1l
|
UTSW |
1 |
160,682,084 (GRCm38) |
missense |
probably benign |
|
|
R7740:Rabgap1l
|
UTSW |
1 |
160,682,103 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7978:Rabgap1l
|
UTSW |
1 |
160,251,268 (GRCm38) |
missense |
|
|
|
R7993:Rabgap1l
|
UTSW |
1 |
160,700,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8116:Rabgap1l
|
UTSW |
1 |
160,702,442 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8672:Rabgap1l
|
UTSW |
1 |
160,443,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8986:Rabgap1l
|
UTSW |
1 |
160,257,535 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9010:Rabgap1l
|
UTSW |
1 |
160,700,873 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9286:Rabgap1l
|
UTSW |
1 |
160,224,248 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Rabgap1l
|
UTSW |
1 |
160,739,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGCACCACTTTTGAAGATTC -3'
(R):5'- GGAACTTTCGGGATAGCATTTGAAATG -3'
Sequencing Primer
(F):5'- ACCACTTTTGAAGATTCTAAGAAAGC -3'
(R):5'- CGGGATAGCATTTGAAATGTAAATG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation