Incidental Mutation 'R7501:Rabgap1l'
| ID |
581450 |
| 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 |
045574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 160528358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 416
(V416A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000195442]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028049
AA Change: V416A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: V416A
| 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 damaging
Transcript: ENSMUST00000195442
AA Change: V388A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: V388A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,142,974 (GRCm39) |
N503S |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,011 (GRCm39) |
A761T |
possibly damaging |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,688,522 (GRCm39) |
E238G |
|
Het |
| Ap3b2 |
A |
T |
7: 81,123,194 (GRCm39) |
I440K |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,049,344 (GRCm39) |
T566I |
probably benign |
Het |
| B3galnt1 |
T |
C |
3: 69,482,632 (GRCm39) |
I210V |
probably benign |
Het |
| Bag5 |
T |
C |
12: 111,676,722 (GRCm39) |
K367R |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,036,080 (GRCm39) |
Y410H |
probably damaging |
Het |
| Cgref1 |
G |
T |
5: 31,102,800 (GRCm39) |
P7Q |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,576,159 (GRCm39) |
I136V |
probably benign |
Het |
| Comp |
A |
G |
8: 70,832,059 (GRCm39) |
D500G |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,395,714 (GRCm39) |
L3872P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,175,336 (GRCm39) |
L91Q |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,525,364 (GRCm39) |
V280A |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,012,597 (GRCm39) |
Y2297* |
probably null |
Het |
| Fem1c |
A |
T |
18: 46,638,868 (GRCm39) |
M378K |
probably damaging |
Het |
| Gata6 |
A |
G |
18: 11,054,082 (GRCm39) |
T4A |
probably damaging |
Het |
| Gatb |
G |
C |
3: 85,544,297 (GRCm39) |
V422L |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,059,508 (GRCm39) |
D510E |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,502,436 (GRCm39) |
Y366N |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,942,666 (GRCm39) |
H492R |
probably damaging |
Het |
| H2bc6 |
A |
G |
13: 23,769,776 (GRCm39) |
I55T |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,953,031 (GRCm39) |
|
probably null |
Het |
| Hnrnph1 |
A |
C |
11: 50,270,383 (GRCm39) |
E62D |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,012,095 (GRCm39) |
V274A |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 941,488 (GRCm39) |
W1230R |
probably damaging |
Het |
| Lctl |
A |
T |
9: 64,038,861 (GRCm39) |
M317L |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,463,471 (GRCm39) |
D570G |
probably damaging |
Het |
| Lrrc9 |
G |
T |
12: 72,496,490 (GRCm39) |
M39I |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,877,419 (GRCm39) |
I402N |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,959,748 (GRCm39) |
G297D |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Nbr1 |
G |
A |
11: 101,457,026 (GRCm39) |
R163Q |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,143 (GRCm39) |
F501L |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
| Oacyl |
T |
G |
18: 65,858,369 (GRCm39) |
|
probably null |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
C |
T |
1: 194,326,203 (GRCm39) |
R46C |
possibly damaging |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,749 (GRCm39) |
D126E |
probably damaging |
Het |
| Prl6a1 |
A |
T |
13: 27,500,282 (GRCm39) |
R84S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,746 (GRCm39) |
Q1279* |
probably null |
Het |
| Ptx4 |
C |
T |
17: 25,344,166 (GRCm39) |
T472I |
possibly damaging |
Het |
| Rbfox2 |
A |
T |
15: 76,989,834 (GRCm39) |
D231E |
probably benign |
Het |
| Reln |
A |
T |
5: 22,432,636 (GRCm39) |
F121L |
possibly damaging |
Het |
| Rfx7 |
G |
A |
9: 72,524,054 (GRCm39) |
V415I |
probably benign |
Het |
| Scaf4 |
A |
T |
16: 90,026,964 (GRCm39) |
M951K |
unknown |
Het |
| Sdf4 |
T |
C |
4: 156,080,977 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,331,863 (GRCm39) |
T51A |
probably damaging |
Het |
| Sema3a |
A |
G |
5: 13,607,008 (GRCm39) |
N281S |
probably damaging |
Het |
| Snai2 |
G |
A |
16: 14,524,754 (GRCm39) |
V87I |
possibly damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,791,357 (GRCm39) |
E925G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,040,514 (GRCm39) |
S197T |
possibly damaging |
Het |
| Syt6 |
A |
T |
3: 103,495,018 (GRCm39) |
M328L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,177,516 (GRCm39) |
V946A |
unknown |
Het |
| Trat1 |
A |
T |
16: 48,574,657 (GRCm39) |
|
probably null |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,997 (GRCm39) |
I243K |
possibly damaging |
Het |
| Vmn2r83 |
G |
A |
10: 79,327,771 (GRCm39) |
C793Y |
probably damaging |
Het |
| Wnt9a |
G |
A |
11: 59,219,583 (GRCm39) |
G203D |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,871,676 (GRCm39) |
I366T |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,269,224 (GRCm39) |
D787G |
possibly damaging |
Het |
| Zfp706 |
T |
C |
15: 37,002,169 (GRCm39) |
T53A |
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 |
|
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 |
|
|
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'- TGTGATATAAGGGGTTCTATTTGCAT -3'
(R):5'- TCTAGAAGGAAATATGCTTGTCTAGA -3'
Sequencing Primer
(F):5'- CCCTAACAATGCATAGGCTGTAGTG -3'
(R):5'- CGCAGATAAACGGGTGTA -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation