Incidental Mutation 'R6294:Rabgap1l'
| ID |
508581 |
| 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 |
044406-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6294 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 160059419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 237
(T237A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028052]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028052
AA Change: T237A
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000028052
Gene: ENSMUSG00000026721
AA Change: T237A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
54 |
100 |
8e-16 |
BLAST |
|
PDB:3HZJ|C
|
54 |
130 |
9e-35 |
PDB |
|
Blast:TBC
|
113 |
176 |
2e-24 |
BLAST |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
coiled coil region
|
281 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000191909
AA Change: T171A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192019
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193185
AA Change: T192A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194824
|
| Meta Mutation Damage Score |
0.0704 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
99% (71/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,631,440 (GRCm39) |
H579L |
probably benign |
Het |
| Aldh2 |
G |
A |
5: 121,710,879 (GRCm39) |
Q8* |
probably null |
Het |
| Ankdd1a |
G |
T |
9: 65,427,446 (GRCm39) |
H10Q |
probably benign |
Het |
| Arpp21 |
A |
G |
9: 111,956,520 (GRCm39) |
F453L |
probably damaging |
Het |
| Birc6 |
C |
A |
17: 74,996,252 (GRCm39) |
D4461E |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,609,069 (GRCm39) |
S411T |
possibly damaging |
Het |
| Camk2g |
A |
G |
14: 20,815,017 (GRCm39) |
I203T |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,290,640 (GRCm39) |
C425S |
probably benign |
Het |
| Ccdc34 |
A |
G |
2: 109,848,496 (GRCm39) |
D95G |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,630,946 (GRCm39) |
S305G |
probably null |
Het |
| Cul7 |
T |
C |
17: 46,974,074 (GRCm39) |
I1453T |
probably benign |
Het |
| Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
| Dync2h1 |
T |
G |
9: 7,084,986 (GRCm39) |
K561T |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,993,564 (GRCm39) |
T359A |
probably benign |
Het |
| Far2 |
T |
A |
6: 148,058,980 (GRCm39) |
L222Q |
probably damaging |
Het |
| Fbxw17 |
A |
G |
13: 50,577,839 (GRCm39) |
E114G |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,349,102 (GRCm39) |
|
probably benign |
Het |
| Ggn |
A |
G |
7: 28,873,273 (GRCm39) |
D666G |
possibly damaging |
Het |
| Hal |
G |
A |
10: 93,350,005 (GRCm39) |
|
probably null |
Het |
| Htt |
A |
G |
5: 34,979,170 (GRCm39) |
D851G |
probably benign |
Het |
| Ighv14-2 |
A |
T |
12: 113,958,218 (GRCm39) |
D74E |
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,800,426 (GRCm39) |
S87L |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,133,995 (GRCm39) |
F720I |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,602,196 (GRCm39) |
Y43N |
probably damaging |
Het |
| Krtap20-1 |
T |
A |
16: 88,880,989 (GRCm39) |
Y7N |
unknown |
Het |
| Lama4 |
T |
A |
10: 38,951,466 (GRCm39) |
F1070L |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,831,814 (GRCm39) |
E98G |
possibly damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,306,319 (GRCm39) |
M581T |
probably benign |
Het |
| Mtss2 |
T |
A |
8: 111,453,960 (GRCm39) |
N43K |
possibly damaging |
Het |
| Mylk3 |
T |
A |
8: 86,077,012 (GRCm39) |
I475F |
probably damaging |
Het |
| Nat14 |
C |
T |
7: 4,927,073 (GRCm39) |
R82* |
probably null |
Het |
| Nckap1 |
T |
C |
2: 80,371,858 (GRCm39) |
N324S |
probably benign |
Het |
| Nemp1 |
C |
T |
10: 127,530,391 (GRCm39) |
T281M |
possibly damaging |
Het |
| Nrg3 |
A |
T |
14: 38,119,196 (GRCm39) |
H425Q |
probably benign |
Het |
| Omd |
T |
A |
13: 49,743,467 (GRCm39) |
N172K |
probably damaging |
Het |
| Or10c1 |
T |
C |
17: 37,522,517 (GRCm39) |
T76A |
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,610,444 (GRCm39) |
T290S |
probably benign |
Het |
| Or4f62 |
A |
G |
2: 111,986,364 (GRCm39) |
I23V |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,288,798 (GRCm39) |
M183T |
probably damaging |
Het |
| Or52r1c |
A |
T |
7: 102,734,874 (GRCm39) |
I45F |
probably benign |
Het |
| Or5b123 |
T |
C |
19: 13,596,730 (GRCm39) |
V25A |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,447,867 (GRCm39) |
I38T |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,172,304 (GRCm39) |
T457A |
possibly damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,715,108 (GRCm39) |
K924N |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,433,424 (GRCm39) |
I3435F |
probably damaging |
Het |
| Psg20 |
C |
A |
7: 18,416,604 (GRCm39) |
V171F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,531 (GRCm39) |
S87T |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,122,273 (GRCm39) |
Y372* |
probably null |
Het |
| Rell1 |
G |
T |
5: 64,097,048 (GRCm39) |
|
probably benign |
Het |
| Rps14 |
A |
G |
18: 60,910,033 (GRCm39) |
K61E |
possibly damaging |
Het |
| Rtl6 |
A |
G |
15: 84,441,321 (GRCm39) |
V25A |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,894,382 (GRCm39) |
S185R |
probably damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,141,621 (GRCm39) |
|
probably null |
Het |
| Slc14a1 |
T |
A |
18: 78,153,273 (GRCm39) |
|
probably null |
Het |
| Smad2 |
A |
T |
18: 76,422,233 (GRCm39) |
N215I |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,677,922 (GRCm39) |
N1473K |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,984,311 (GRCm39) |
|
probably null |
Het |
| Stk31 |
A |
C |
6: 49,394,278 (GRCm39) |
R213S |
probably benign |
Het |
| Tmod4 |
A |
T |
3: 95,035,617 (GRCm39) |
Q255L |
probably benign |
Het |
| Tnpo1 |
T |
A |
13: 99,027,282 (GRCm39) |
Y3F |
probably benign |
Het |
| Tom1l1 |
A |
C |
11: 90,552,587 (GRCm39) |
Y206* |
probably null |
Het |
| Tulp2 |
A |
G |
7: 45,164,116 (GRCm39) |
K36E |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,252,094 (GRCm39) |
R282C |
probably damaging |
Het |
| Unc5b |
A |
T |
10: 60,614,110 (GRCm39) |
N246K |
possibly damaging |
Het |
| Ush2a |
C |
G |
1: 188,268,567 (GRCm39) |
S1674R |
possibly damaging |
Het |
| Vmn1r224 |
T |
C |
17: 20,640,083 (GRCm39) |
I220T |
probably benign |
Het |
| Vmn1r7 |
G |
C |
6: 57,001,404 (GRCm39) |
N285K |
probably benign |
Het |
| Vmn2r83 |
C |
T |
10: 79,313,688 (GRCm39) |
P99S |
probably damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,282 (GRCm39) |
F601L |
probably benign |
Het |
| Zc3h3 |
A |
T |
15: 75,681,417 (GRCm39) |
S555T |
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 |
|
|
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'- TCAGGAAAGACATGCCTGGG -3'
(R):5'- AACCCACTTCTGTGCTGAATG -3'
Sequencing Primer
(F):5'- GGCAGGAAAGAGGACTAAGACTC -3'
(R):5'- GATTAGGTCAGGCTTCCCACAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation