Incidental Mutation 'R1569:Rabgap1l'
| ID |
177087 |
| 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 |
039608-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1569 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 160529960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 347
(I347K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000195442]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028049
AA Change: I375K
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: I375K
| 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: I347K
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: I347K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.3%
|
| Validation Efficiency |
96% (72/75) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,427 (GRCm39) |
K166* |
probably null |
Het |
| Abca2 |
T |
A |
2: 25,329,197 (GRCm39) |
N1012K |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,981,458 (GRCm39) |
V914A |
possibly damaging |
Het |
| Akap1 |
T |
A |
11: 88,724,006 (GRCm39) |
M833L |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,823,188 (GRCm39) |
H249Q |
probably benign |
Het |
| Atp6v0a4 |
A |
G |
6: 38,027,560 (GRCm39) |
V750A |
probably damaging |
Het |
| Car6 |
T |
C |
4: 150,285,499 (GRCm39) |
Y23C |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,267 (GRCm39) |
T917A |
probably damaging |
Het |
| Clmn |
C |
A |
12: 104,747,340 (GRCm39) |
D736Y |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dennd4c |
G |
A |
4: 86,704,331 (GRCm39) |
R282H |
possibly damaging |
Het |
| Dsg1b |
T |
A |
18: 20,529,537 (GRCm39) |
N327K |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,745,597 (GRCm39) |
|
probably benign |
Het |
| Esyt1 |
G |
T |
10: 128,354,863 (GRCm39) |
S512R |
possibly damaging |
Het |
| Fam124b |
T |
C |
1: 80,190,852 (GRCm39) |
Y177C |
possibly damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,922,803 (GRCm39) |
I205K |
probably damaging |
Het |
| Fcrl1 |
A |
G |
3: 87,292,012 (GRCm39) |
Y57C |
probably damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,494,171 (GRCm39) |
D151E |
probably benign |
Het |
| Gcc2 |
C |
T |
10: 58,105,993 (GRCm39) |
L310F |
probably benign |
Het |
| Hsd11b1 |
C |
G |
1: 192,922,635 (GRCm39) |
E141Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,514,340 (GRCm39) |
V89A |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,458,017 (GRCm39) |
T185S |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,896,771 (GRCm39) |
D1265G |
probably benign |
Het |
| Ints9 |
T |
C |
14: 65,217,571 (GRCm39) |
Y33H |
possibly damaging |
Het |
| Kif1a |
A |
T |
1: 92,986,532 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,087,613 (GRCm39) |
|
probably null |
Het |
| Lbp |
A |
T |
2: 158,161,607 (GRCm39) |
D223V |
probably damaging |
Het |
| Lck |
C |
A |
4: 129,449,449 (GRCm39) |
D283Y |
probably damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,970,309 (GRCm39) |
F258S |
probably damaging |
Het |
| Lsg1 |
G |
T |
16: 30,399,823 (GRCm39) |
|
probably null |
Het |
| Maip1 |
T |
C |
1: 57,452,554 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
T |
G |
12: 111,600,180 (GRCm39) |
I465S |
probably benign |
Het |
| Marveld2 |
C |
T |
13: 100,737,506 (GRCm39) |
V128I |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,319,022 (GRCm39) |
H750R |
possibly damaging |
Het |
| Mdn1 |
A |
T |
4: 32,723,501 (GRCm39) |
Q2479L |
probably null |
Het |
| Met |
A |
T |
6: 17,531,503 (GRCm39) |
K594* |
probably null |
Het |
| Pak2 |
G |
T |
16: 31,856,113 (GRCm39) |
S241R |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,162,410 (GRCm39) |
I1368V |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,416,960 (GRCm39) |
I51T |
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,595 (GRCm39) |
E62G |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,152,475 (GRCm39) |
S86G |
possibly damaging |
Het |
| Rdh1 |
A |
T |
10: 127,598,941 (GRCm39) |
M141L |
probably benign |
Het |
| Rfx2 |
A |
T |
17: 57,111,326 (GRCm39) |
I82N |
possibly damaging |
Het |
| Sh2b2 |
G |
A |
5: 136,260,589 (GRCm39) |
A209V |
possibly damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,033,951 (GRCm39) |
R768H |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,837,896 (GRCm39) |
P814S |
probably damaging |
Het |
| Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,576,745 (GRCm39) |
T430A |
probably benign |
Het |
| Slc17a3 |
A |
T |
13: 24,039,591 (GRCm39) |
I250F |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
G |
2: 121,932,187 (GRCm39) |
S552P |
probably damaging |
Het |
| Srpk2 |
A |
G |
5: 23,719,024 (GRCm39) |
I597T |
probably damaging |
Het |
| St6galnac1 |
T |
G |
11: 116,660,097 (GRCm39) |
N72T |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,911,321 (GRCm39) |
|
probably null |
Het |
| Tmem208 |
T |
A |
8: 106,061,462 (GRCm39) |
C163S |
possibly damaging |
Het |
| Tpte |
T |
C |
8: 22,835,047 (GRCm39) |
V401A |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,282,093 (GRCm39) |
W795R |
possibly damaging |
Het |
| Trpm3 |
G |
A |
19: 22,866,809 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,626,063 (GRCm39) |
T14999S |
possibly damaging |
Het |
| Txndc2 |
A |
T |
17: 65,945,921 (GRCm39) |
N85K |
probably benign |
Het |
| Yes1 |
A |
G |
5: 32,810,507 (GRCm39) |
Y192C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,427,392 (GRCm39) |
V2415A |
unknown |
Het |
| Zfp410 |
T |
A |
12: 84,379,726 (GRCm39) |
C311S |
probably damaging |
Het |
| Zfp51 |
A |
T |
17: 21,676,642 (GRCm39) |
M38L |
probably benign |
Het |
| Zfp560 |
A |
T |
9: 20,260,011 (GRCm39) |
C284S |
possibly damaging |
Het |
| Zfp808 |
C |
T |
13: 62,320,714 (GRCm39) |
R648* |
probably null |
Het |
| Zfp976 |
G |
T |
7: 42,262,806 (GRCm39) |
H344N |
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 |
|
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 |
PCR Primer
(F):5'- TGAGCAACCAATGTGACTTTCAAAGGA -3'
(R):5'- GATTCAGCTTGAATGGGTACACCTCTT -3'
Sequencing Primer
(F):5'- TTTCTCCACAAAAGCATGAAAAAAG -3'
(R):5'- GGGTACACCTCTTTTCATGCAAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation