Incidental Mutation 'R6243:Rabgap1l'
ID |
505350 |
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 |
044365-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6243 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 160472877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
|
AlphaFold |
A6H6A9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028049
|
SMART Domains |
Protein: ENSMUSP00000028049 Gene: ENSMUSG00000026721
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: ENSMUST00000104571
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194571
|
Meta Mutation Damage Score |
0.9596 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
99% (73/74) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
C |
13: 104,450,809 (GRCm39) |
S331P |
probably damaging |
Het |
Akap9 |
T |
G |
5: 4,115,000 (GRCm39) |
|
probably null |
Het |
Ankef1 |
A |
G |
2: 136,379,077 (GRCm39) |
E9G |
probably damaging |
Het |
Ap1g2 |
T |
C |
14: 55,336,530 (GRCm39) |
E788G |
probably benign |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Asrgl1 |
A |
T |
19: 9,093,868 (GRCm39) |
I220K |
probably damaging |
Het |
Atg16l2 |
A |
C |
7: 100,941,536 (GRCm39) |
*404E |
probably null |
Het |
Atp4a |
T |
C |
7: 30,415,382 (GRCm39) |
F334S |
possibly damaging |
Het |
Atp6v0d1 |
T |
C |
8: 106,292,495 (GRCm39) |
E17G |
probably benign |
Het |
Bcat2 |
T |
C |
7: 45,237,691 (GRCm39) |
V279A |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,916,382 (GRCm39) |
M459R |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,984,760 (GRCm39) |
Y3098C |
unknown |
Het |
Btaf1 |
T |
A |
19: 36,958,520 (GRCm39) |
M679K |
probably benign |
Het |
Cirop |
T |
A |
14: 54,933,216 (GRCm39) |
R322S |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,890,589 (GRCm39) |
T1902A |
possibly damaging |
Het |
Crhr1 |
G |
A |
11: 104,064,740 (GRCm39) |
C364Y |
probably damaging |
Het |
Crmp1 |
T |
C |
5: 37,446,288 (GRCm39) |
L648P |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,550,277 (GRCm39) |
Y671H |
probably damaging |
Het |
Cyp2b13 |
C |
T |
7: 25,761,044 (GRCm39) |
P34S |
probably damaging |
Het |
Dnajb6 |
T |
A |
5: 29,986,131 (GRCm39) |
V233E |
probably benign |
Het |
Dnhd1 |
A |
T |
7: 105,301,216 (GRCm39) |
H191L |
probably damaging |
Het |
Dsg3 |
T |
A |
18: 20,672,781 (GRCm39) |
D817E |
probably damaging |
Het |
Dytn |
T |
C |
1: 63,686,680 (GRCm39) |
Q330R |
possibly damaging |
Het |
Fads1 |
G |
T |
19: 10,163,091 (GRCm39) |
E123* |
probably null |
Het |
Fchsd2 |
T |
C |
7: 100,921,016 (GRCm39) |
|
probably benign |
Het |
Fmo9 |
T |
C |
1: 166,494,938 (GRCm39) |
E270G |
probably benign |
Het |
Folr1 |
T |
A |
7: 101,513,172 (GRCm39) |
H41L |
probably damaging |
Het |
Gm7298 |
A |
G |
6: 121,756,096 (GRCm39) |
N985S |
possibly damaging |
Het |
Gp1ba |
T |
C |
11: 70,530,963 (GRCm39) |
|
probably benign |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Igf2bp3 |
A |
T |
6: 49,084,362 (GRCm39) |
N285K |
possibly damaging |
Het |
Lca5l |
G |
A |
16: 95,980,112 (GRCm39) |
T6I |
possibly damaging |
Het |
Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
Mpeg1 |
A |
G |
19: 12,439,604 (GRCm39) |
H354R |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,290,999 (GRCm39) |
V195E |
possibly damaging |
Het |
Mtfmt |
C |
T |
9: 65,351,182 (GRCm39) |
T243I |
probably benign |
Het |
Myo1h |
T |
A |
5: 114,500,208 (GRCm39) |
I195K |
probably damaging |
Het |
Nr1h5 |
T |
C |
3: 102,856,380 (GRCm39) |
K300E |
probably benign |
Het |
Nuak2 |
T |
C |
1: 132,260,105 (GRCm39) |
S628P |
probably benign |
Het |
Nup214 |
G |
T |
2: 31,892,944 (GRCm39) |
A721S |
possibly damaging |
Het |
Or12e13 |
A |
G |
2: 87,663,385 (GRCm39) |
M1V |
probably null |
Het |
Or5d47 |
A |
G |
2: 87,804,931 (GRCm39) |
V26A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,726,457 (GRCm39) |
|
probably benign |
Het |
Phf20 |
A |
G |
2: 156,065,320 (GRCm39) |
S12G |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,382,826 (GRCm39) |
Y289H |
probably damaging |
Het |
Pld1 |
T |
C |
3: 28,149,954 (GRCm39) |
I717T |
probably damaging |
Het |
Plxdc1 |
A |
G |
11: 97,846,299 (GRCm39) |
Y182H |
probably damaging |
Het |
Ppid |
A |
G |
3: 79,510,373 (GRCm39) |
I354V |
probably benign |
Het |
Prss2 |
T |
C |
6: 41,501,387 (GRCm39) |
V152A |
probably benign |
Het |
Rab28 |
C |
T |
5: 41,793,223 (GRCm39) |
A141T |
probably benign |
Het |
Rabl6 |
T |
G |
2: 25,475,415 (GRCm39) |
S553R |
probably damaging |
Het |
Rars1 |
A |
G |
11: 35,717,374 (GRCm39) |
F170S |
possibly damaging |
Het |
Ror2 |
T |
A |
13: 53,267,116 (GRCm39) |
M440L |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Rsph4a |
A |
T |
10: 33,785,139 (GRCm39) |
Q350L |
probably damaging |
Het |
Serpinb2 |
T |
C |
1: 107,450,869 (GRCm39) |
F204L |
probably damaging |
Het |
Sertad4 |
T |
C |
1: 192,533,257 (GRCm39) |
|
probably null |
Het |
Shisa3 |
C |
T |
5: 67,768,486 (GRCm39) |
P129S |
probably benign |
Het |
Slc13a2 |
G |
A |
11: 78,295,534 (GRCm39) |
L111F |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Stab2 |
T |
A |
10: 86,743,025 (GRCm39) |
R1195W |
probably damaging |
Het |
Syna |
C |
A |
5: 134,588,968 (GRCm39) |
|
probably benign |
Het |
Thada |
A |
T |
17: 84,744,030 (GRCm39) |
D759E |
probably benign |
Het |
Thoc5 |
A |
G |
11: 4,869,753 (GRCm39) |
Y385C |
possibly damaging |
Het |
Thsd7a |
C |
T |
6: 12,327,601 (GRCm39) |
D1424N |
probably damaging |
Het |
Thsd7b |
A |
T |
1: 130,090,599 (GRCm39) |
Q1204L |
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 145,029,671 (GRCm39) |
N43S |
possibly damaging |
Het |
Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
Ugt2a2 |
T |
G |
5: 87,610,818 (GRCm39) |
K339N |
probably benign |
Het |
Vmn2r8 |
T |
C |
5: 108,947,211 (GRCm39) |
T514A |
probably benign |
Het |
Wrn |
A |
T |
8: 33,774,682 (GRCm39) |
M652K |
possibly damaging |
Het |
Yme1l1 |
A |
T |
2: 23,083,184 (GRCm39) |
Y550F |
probably benign |
Het |
Zfp995 |
G |
A |
17: 22,099,269 (GRCm39) |
P322S |
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 |
|
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 |
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'- TCTTTCATTACATCAAGAGCCTGTG -3'
(R):5'- ATGTGACACAGCAGCCTCAC -3'
Sequencing Primer
(F):5'- AAAGGCCCTTTCTGTGCAAG -3'
(R):5'- TCACCTGCAAGGCCTCTGAG -3'
|
Posted On |
2018-02-28 |