Incidental Mutation 'R8672:Rabgap1l'
| ID |
661187 |
| 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 |
068527-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 160270846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 647
(M647R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000191651]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028049
AA Change: M647R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: M647R
| 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: ENSMUST00000191651
|
| SMART Domains |
Protein: ENSMUSP00000141357
Gene: ENSMUSG00000026721
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Aadat |
A |
T |
8: 60,959,179 (GRCm39) |
|
probably benign |
Het |
| Amigo3 |
A |
G |
9: 107,931,375 (GRCm39) |
H266R |
possibly damaging |
Het |
| Amy2a1 |
A |
T |
3: 113,323,146 (GRCm39) |
M214K |
probably damaging |
Het |
| Atp11b |
A |
T |
3: 35,874,066 (GRCm39) |
D685V |
probably benign |
Het |
| Aunip |
T |
A |
4: 134,250,460 (GRCm39) |
M135K |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,731,564 (GRCm39) |
T483A |
probably benign |
Het |
| Card9 |
T |
C |
2: 26,247,950 (GRCm39) |
T134A |
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,764,949 (GRCm39) |
T216I |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,079,005 (GRCm39) |
V360A |
unknown |
Het |
| Crcp |
A |
G |
5: 130,071,077 (GRCm39) |
R59G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,976,598 (GRCm39) |
E2873D |
probably benign |
Het |
| Cyp8b1 |
T |
A |
9: 121,743,986 (GRCm39) |
M449L |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,246,133 (GRCm39) |
D40G |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,823 (GRCm39) |
L463Q |
possibly damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,524 (GRCm39) |
I454V |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,491,675 (GRCm39) |
I41F |
probably damaging |
Het |
| Gkap1 |
G |
A |
13: 58,391,662 (GRCm39) |
T231I |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,069,632 (GRCm39) |
L1705P |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,850,786 (GRCm39) |
F467I |
probably damaging |
Het |
| Ifih1 |
T |
C |
2: 62,435,993 (GRCm39) |
E699G |
possibly damaging |
Het |
| Ints5 |
T |
A |
19: 8,873,370 (GRCm39) |
L443Q |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,276,016 (GRCm39) |
C764S |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,551,230 (GRCm39) |
I519N |
probably damaging |
Het |
| Krtap4-1 |
C |
T |
11: 99,518,890 (GRCm39) |
C40Y |
unknown |
Het |
| Mdn1 |
A |
G |
4: 32,768,793 (GRCm39) |
D5384G |
probably damaging |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mucl1 |
A |
G |
15: 103,784,063 (GRCm39) |
S48P |
possibly damaging |
Het |
| Musk |
T |
G |
4: 58,286,051 (GRCm39) |
|
probably benign |
Het |
| Nemp1 |
T |
C |
10: 127,512,988 (GRCm39) |
S8P |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,895,093 (GRCm39) |
C1068R |
probably damaging |
Het |
| Npr3 |
T |
C |
15: 11,851,579 (GRCm39) |
N404D |
probably damaging |
Het |
| Nwd1 |
C |
G |
8: 73,394,007 (GRCm39) |
H423Q |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,921 (GRCm39) |
V52M |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,596 (GRCm39) |
N63K |
probably damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,976 (GRCm39) |
M15L |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,124,529 (GRCm39) |
N547S |
probably benign |
Het |
| Pdha2 |
C |
A |
3: 140,917,124 (GRCm39) |
R128L |
probably damaging |
Het |
| Pebp1 |
A |
G |
5: 117,421,336 (GRCm39) |
Y181H |
probably benign |
Het |
| Peg3 |
T |
G |
7: 6,711,523 (GRCm39) |
D1233A |
possibly damaging |
Het |
| Pepd |
C |
A |
7: 34,642,107 (GRCm39) |
T146N |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,393,841 (GRCm39) |
D877E |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,007 (GRCm39) |
S702P |
possibly damaging |
Het |
| Shb |
A |
T |
4: 45,489,161 (GRCm39) |
D238E |
probably damaging |
Het |
| Slc36a1 |
T |
A |
11: 55,123,334 (GRCm39) |
V433D |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,127,726 (GRCm39) |
N1761K |
probably benign |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Tcerg1 |
A |
T |
18: 42,686,559 (GRCm39) |
K705N |
probably damaging |
Het |
| Thbs1 |
C |
A |
2: 117,943,719 (GRCm39) |
N112K |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,222,919 (GRCm39) |
I398T |
possibly 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 |
|
|
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 |
|
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'- GGTATCAAAATTGTTATCGAGCCCAAC -3'
(R):5'- AAGATCATGAGGGTTACTTGGG -3'
Sequencing Primer
(F):5'- ACCAACTTTTATGTCTGAAAAGTGAG -3'
(R):5'- AGATCATGAGGGTTACTTGGGATTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation