Incidental Mutation 'R7565:Rabgap1l'
ID |
585349 |
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 |
045710-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7565 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 160078987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 9
(D9G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028052]
|
AlphaFold |
A6H6A9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028052
|
SMART Domains |
Protein: ENSMUSP00000028052 Gene: ENSMUSG00000026721
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193185
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
T |
A |
17: 48,452,750 (GRCm39) |
Y63F |
possibly damaging |
Het |
Abi1 |
A |
T |
2: 22,836,596 (GRCm39) |
I421N |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,993,520 (GRCm39) |
I4935V |
probably benign |
Het |
Atg12 |
A |
C |
18: 46,867,551 (GRCm39) |
V131G |
probably damaging |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
3: 95,795,456 (GRCm39) |
|
probably benign |
Het |
BC028528 |
CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
3: 95,795,450 (GRCm39) |
|
probably benign |
Het |
Bcl3 |
C |
T |
7: 19,546,419 (GRCm39) |
V139I |
probably damaging |
Het |
Bloc1s4 |
T |
A |
5: 36,905,689 (GRCm39) |
M101L |
probably benign |
Het |
Bmp6 |
C |
T |
13: 38,530,233 (GRCm39) |
Q109* |
probably null |
Het |
Cabyr |
C |
T |
18: 12,877,656 (GRCm39) |
T28I |
possibly damaging |
Het |
Catsper3 |
T |
C |
13: 55,932,538 (GRCm39) |
S22P |
probably benign |
Het |
Catsperg2 |
A |
T |
7: 29,412,406 (GRCm39) |
C395S |
probably null |
Het |
Cd101 |
T |
C |
3: 100,926,108 (GRCm39) |
T208A |
probably benign |
Het |
Chaf1a |
A |
G |
17: 56,371,148 (GRCm39) |
S678G |
probably benign |
Het |
Chrna2 |
A |
C |
14: 66,388,484 (GRCm39) |
I500L |
probably benign |
Het |
Cln6 |
C |
T |
9: 62,758,039 (GRCm39) |
T266I |
possibly damaging |
Het |
Col17a1 |
T |
A |
19: 47,659,963 (GRCm39) |
T330S |
possibly damaging |
Het |
Cyp2d40 |
A |
G |
15: 82,644,975 (GRCm39) |
V225A |
unknown |
Het |
Dnah10 |
A |
G |
5: 124,876,095 (GRCm39) |
N2645D |
probably damaging |
Het |
Dph5 |
T |
A |
3: 115,686,446 (GRCm39) |
V74D |
probably benign |
Het |
Dthd1 |
A |
T |
5: 63,000,435 (GRCm39) |
I586L |
probably damaging |
Het |
Elane |
G |
A |
10: 79,722,879 (GRCm39) |
R95Q |
probably benign |
Het |
Fbxw17 |
A |
G |
13: 50,587,398 (GRCm39) |
T453A |
probably damaging |
Het |
Fpr3 |
C |
A |
17: 18,191,227 (GRCm39) |
T166K |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,191,063 (GRCm39) |
I2724T |
probably benign |
Het |
Fsip2 |
C |
T |
2: 82,779,856 (GRCm39) |
R201C |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,642,630 (GRCm39) |
N767S |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,633,050 (GRCm39) |
F11Y |
possibly damaging |
Het |
Hyal4 |
T |
A |
6: 24,765,933 (GRCm39) |
M429K |
possibly damaging |
Het |
Itgad |
A |
T |
7: 127,782,187 (GRCm39) |
T208S |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,329,862 (GRCm39) |
L1552R |
probably benign |
Het |
Kcp |
C |
T |
6: 29,499,186 (GRCm39) |
C292Y |
probably damaging |
Het |
Kdr |
T |
C |
5: 76,109,503 (GRCm39) |
K958R |
probably damaging |
Het |
Klhl22 |
T |
A |
16: 17,607,148 (GRCm39) |
W485R |
probably damaging |
Het |
Ldhb |
T |
A |
6: 142,438,245 (GRCm39) |
I271F |
possibly damaging |
Het |
Lmo7 |
A |
G |
14: 102,122,737 (GRCm39) |
R309G |
probably damaging |
Het |
Marco |
C |
A |
1: 120,402,395 (GRCm39) |
C517F |
probably damaging |
Het |
Mpdz |
G |
A |
4: 81,221,891 (GRCm39) |
T1423I |
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,218,600 (GRCm39) |
S1410G |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,292,091 (GRCm39) |
N283S |
probably damaging |
Het |
Nlrp14 |
T |
A |
7: 106,781,094 (GRCm39) |
L97* |
probably null |
Het |
Olfm3 |
T |
G |
3: 114,916,393 (GRCm39) |
S442A |
probably damaging |
Het |
Or10p1 |
A |
G |
10: 129,444,029 (GRCm39) |
V107A |
possibly damaging |
Het |
Or14j10 |
T |
C |
17: 37,935,392 (GRCm39) |
I45V |
probably damaging |
Het |
Or2ag12 |
T |
C |
7: 106,277,333 (GRCm39) |
Y120C |
probably damaging |
Het |
Or5a1 |
T |
A |
19: 12,097,375 (GRCm39) |
S234C |
probably benign |
Het |
Or5an10 |
T |
C |
19: 12,276,212 (GRCm39) |
T95A |
probably benign |
Het |
Pank4 |
G |
A |
4: 155,065,007 (GRCm39) |
V769I |
probably benign |
Het |
Pdgfrb |
G |
A |
18: 61,216,336 (GRCm39) |
D1065N |
probably damaging |
Het |
Ppp1r12a |
G |
A |
10: 108,104,501 (GRCm39) |
S911N |
probably benign |
Het |
Prdx6b |
A |
G |
2: 80,123,334 (GRCm39) |
T48A |
probably damaging |
Het |
Pttg1ip |
A |
G |
10: 77,432,870 (GRCm39) |
K166E |
probably damaging |
Het |
Rpl13a |
C |
T |
7: 44,776,466 (GRCm39) |
G69S |
probably benign |
Het |
Rps6ka5 |
T |
A |
12: 100,582,342 (GRCm39) |
I177F |
probably damaging |
Het |
Rttn |
C |
A |
18: 89,078,603 (GRCm39) |
A1343E |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,575,539 (GRCm39) |
V4820I |
possibly damaging |
Het |
Slc12a7 |
A |
G |
13: 73,938,891 (GRCm39) |
I223V |
possibly damaging |
Het |
Slc9a3 |
G |
A |
13: 74,305,813 (GRCm39) |
V277M |
probably damaging |
Het |
Spata13 |
A |
T |
14: 60,989,298 (GRCm39) |
Y988F |
probably damaging |
Het |
Spata31e2 |
A |
T |
1: 26,724,351 (GRCm39) |
N276K |
probably benign |
Het |
Spo11 |
A |
G |
2: 172,833,864 (GRCm39) |
I329V |
possibly damaging |
Het |
Tcp11l2 |
A |
T |
10: 84,422,998 (GRCm39) |
D63V |
probably damaging |
Het |
Tdrd3 |
G |
A |
14: 87,744,029 (GRCm39) |
W659* |
probably null |
Het |
Thnsl2 |
T |
C |
6: 71,118,311 (GRCm39) |
D39G |
probably benign |
Het |
Thumpd1 |
A |
T |
7: 119,316,085 (GRCm39) |
L288* |
probably null |
Het |
Tram1l1 |
T |
C |
3: 124,115,556 (GRCm39) |
Y239H |
probably damaging |
Het |
Usp38 |
T |
A |
8: 81,708,601 (GRCm39) |
E992D |
probably damaging |
Het |
Usp45 |
A |
G |
4: 21,784,790 (GRCm39) |
T159A |
probably benign |
Het |
Vmn1r218 |
C |
T |
13: 23,320,830 (GRCm39) |
T59I |
probably benign |
Het |
Vmn2r70 |
T |
C |
7: 85,214,499 (GRCm39) |
I218V |
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,183,488 (GRCm39) |
I461V |
probably benign |
Het |
Ydjc |
T |
C |
16: 16,964,869 (GRCm39) |
L8P |
probably damaging |
Het |
Yme1l1 |
A |
T |
2: 23,050,232 (GRCm39) |
N21I |
possibly damaging |
Het |
Zfhx4 |
T |
C |
3: 5,455,426 (GRCm39) |
L1140P |
probably benign |
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 |
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'- ATAGCTGGGGAAGTCTGGTTAC -3'
(R):5'- TTGCTAATGTTTCCACACACG -3'
Sequencing Primer
(F):5'- TTTCAGAGACAGACATGAATACAGAC -3'
(R):5'- AATGTTTCCACACACGGCATTTTC -3'
|
Posted On |
2019-10-17 |