Incidental Mutation 'R0201:Rapgef6'
| ID |
23654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rapgef6
|
| Ensembl Gene |
ENSMUSG00000037533 |
| Gene Name |
Rap guanine nucleotide exchange factor (GEF) 6 |
| Synonyms |
PDZ-GEF2, Pdzgef2, C030018K18Rik, RA-GEF-2 |
| MMRRC Submission |
038458-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0201 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54522847-54699285 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54619941 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 228
(V228A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094536]
[ENSMUST00000101206]
[ENSMUST00000102743]
[ENSMUST00000108894]
[ENSMUST00000108895]
[ENSMUST00000207429]
[ENSMUST00000218995]
|
| AlphaFold |
Q5NCJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094536
|
| SMART Domains |
Protein: ENSMUSP00000092114
Gene: ENSMUSG00000037533
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
1 |
113 |
6.64e-7 |
SMART |
|
RasGEFN
|
127 |
240 |
4.35e-33 |
SMART |
|
PDZ
|
255 |
327 |
8.86e-16 |
SMART |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
RA
|
464 |
550 |
1.47e-20 |
SMART |
|
RasGEF
|
571 |
853 |
3.88e-84 |
SMART |
|
low complexity region
|
944 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
989 |
N/A |
INTRINSIC |
|
low complexity region
|
1016 |
1061 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101206
AA Change: V228A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098766
Gene: ENSMUSG00000037533
AA Change: V228A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
10 |
82 |
1.45e-5 |
PROSPERO |
|
low complexity region
|
187 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
239 |
N/A |
INTRINSIC |
|
cNMP
|
280 |
398 |
4.8e-13 |
SMART |
|
RasGEFN
|
412 |
525 |
4.35e-33 |
SMART |
|
PDZ
|
540 |
612 |
8.86e-16 |
SMART |
|
low complexity region
|
694 |
705 |
N/A |
INTRINSIC |
|
RA
|
749 |
835 |
1.47e-20 |
SMART |
|
RasGEF
|
856 |
1095 |
5.35e-87 |
SMART |
|
low complexity region
|
1237 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1270 |
1293 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1364 |
N/A |
INTRINSIC |
|
low complexity region
|
1368 |
1380 |
N/A |
INTRINSIC |
|
low complexity region
|
1444 |
1452 |
N/A |
INTRINSIC |
|
low complexity region
|
1555 |
1568 |
N/A |
INTRINSIC |
|
low complexity region
|
1591 |
1604 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102743
AA Change: V228A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099804
Gene: ENSMUSG00000037533
AA Change: V228A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
10 |
82 |
1.42e-5 |
PROSPERO |
|
low complexity region
|
187 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
239 |
N/A |
INTRINSIC |
|
cNMP
|
280 |
398 |
4.8e-13 |
SMART |
|
RasGEFN
|
412 |
525 |
4.35e-33 |
SMART |
|
PDZ
|
540 |
612 |
8.86e-16 |
SMART |
|
low complexity region
|
694 |
705 |
N/A |
INTRINSIC |
|
RA
|
749 |
835 |
1.47e-20 |
SMART |
|
RasGEF
|
856 |
1138 |
3.88e-84 |
SMART |
|
low complexity region
|
1229 |
1242 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1285 |
N/A |
INTRINSIC |
|
low complexity region
|
1337 |
1356 |
N/A |
INTRINSIC |
|
low complexity region
|
1360 |
1372 |
N/A |
INTRINSIC |
|
low complexity region
|
1436 |
1444 |
N/A |
INTRINSIC |
|
low complexity region
|
1547 |
1560 |
N/A |
INTRINSIC |
|
low complexity region
|
1583 |
1596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108894
|
| SMART Domains |
Protein: ENSMUSP00000104522
Gene: ENSMUSG00000037533
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
1 |
113 |
6.64e-7 |
SMART |
|
RasGEFN
|
127 |
240 |
4.35e-33 |
SMART |
|
PDZ
|
255 |
327 |
8.86e-16 |
SMART |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
RA
|
464 |
550 |
1.47e-20 |
SMART |
|
RasGEF
|
571 |
810 |
5.35e-87 |
SMART |
|
low complexity region
|
952 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108895
AA Change: V228A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104523
Gene: ENSMUSG00000037533
AA Change: V228A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
10 |
82 |
1.95e-5 |
PROSPERO |
|
low complexity region
|
187 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
239 |
N/A |
INTRINSIC |
|
cNMP
|
280 |
398 |
4.8e-13 |
SMART |
|
RasGEFN
|
412 |
526 |
1.03e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149372
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207429
AA Change: V228A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218995
AA Change: V81A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220269
|
| Meta Mutation Damage Score |
0.1148 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.2%
|
| Validation Efficiency |
97% (91/94) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(16) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(13) |
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
G |
14: 68,581,957 (GRCm38) |
|
probably null |
Het |
| Adamts16 |
T |
A |
13: 70,779,644 (GRCm38) |
Q492L |
possibly damaging |
Het |
| Aplnr |
A |
G |
2: 85,137,177 (GRCm38) |
D182G |
probably damaging |
Het |
| Arnt2 |
G |
T |
7: 84,361,659 (GRCm38) |
S3* |
probably null |
Het |
| Asxl3 |
T |
C |
18: 22,523,154 (GRCm38) |
V1407A |
probably benign |
Het |
| Atg13 |
A |
T |
2: 91,684,762 (GRCm38) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,454,279 (GRCm38) |
|
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,609,327 (GRCm38) |
V1746G |
possibly damaging |
Het |
| Cbln1 |
G |
T |
8: 87,472,113 (GRCm38) |
T43K |
probably benign |
Het |
| Cbx5 |
T |
C |
15: 103,199,700 (GRCm38) |
T173A |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,737,512 (GRCm38) |
Y1437C |
probably damaging |
Het |
| Ccdc78 |
C |
A |
17: 25,789,236 (GRCm38) |
|
probably benign |
Het |
| Cd2bp2 |
A |
G |
7: 127,193,828 (GRCm38) |
Y341H |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 141,276,378 (GRCm38) |
D88V |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 93,267,329 (GRCm38) |
T275S |
probably null |
Het |
| Cimip4 |
T |
A |
15: 78,378,828 (GRCm38) |
M209L |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,960,717 (GRCm38) |
N458S |
probably benign |
Het |
| Cog5 |
A |
G |
12: 31,839,841 (GRCm38) |
K521R |
probably damaging |
Het |
| Csf2ra |
T |
A |
19: 61,225,568 (GRCm38) |
T305S |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,619,729 (GRCm38) |
|
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,201,499 (GRCm38) |
R132* |
probably null |
Het |
| D5Ertd579e |
G |
T |
5: 36,616,465 (GRCm38) |
N195K |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,223,808 (GRCm38) |
V606A |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,186,147 (GRCm38) |
D884N |
probably damaging |
Het |
| Ehhadh |
A |
G |
16: 21,773,493 (GRCm38) |
|
probably null |
Het |
| Enpp1 |
T |
A |
10: 24,653,917 (GRCm38) |
T608S |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,101,632 (GRCm38) |
Y674H |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,891,596 (GRCm38) |
V1546D |
probably damaging |
Het |
| Fsd1 |
G |
A |
17: 55,990,522 (GRCm38) |
A158T |
probably benign |
Het |
| Fzd2 |
T |
A |
11: 102,606,122 (GRCm38) |
M464K |
probably damaging |
Het |
| Gjc2 |
A |
G |
11: 59,177,590 (GRCm38) |
F22S |
possibly damaging |
Het |
| Gria2 |
T |
C |
3: 80,707,838 (GRCm38) |
Y445C |
probably damaging |
Het |
| Hsdl1 |
T |
A |
8: 119,566,256 (GRCm38) |
I147F |
possibly damaging |
Het |
| Ifi44 |
T |
C |
3: 151,745,636 (GRCm38) |
Y226C |
probably damaging |
Het |
| Il16 |
A |
G |
7: 83,722,308 (GRCm38) |
C97R |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,345,561 (GRCm38) |
S369T |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,219,109 (GRCm38) |
T390A |
unknown |
Het |
| Lgi1 |
A |
G |
19: 38,301,293 (GRCm38) |
E269G |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,450,897 (GRCm38) |
Y1577* |
probably null |
Het |
| Lrrc74a |
G |
T |
12: 86,761,773 (GRCm38) |
|
probably benign |
Het |
| Man1c1 |
A |
T |
4: 134,640,398 (GRCm38) |
|
probably null |
Het |
| Map1lc3b |
A |
C |
8: 121,590,550 (GRCm38) |
Q9P |
possibly damaging |
Het |
| Mboat1 |
G |
A |
13: 30,202,375 (GRCm38) |
R124H |
probably benign |
Het |
| Mcu |
A |
G |
10: 59,456,677 (GRCm38) |
L60P |
probably damaging |
Het |
| Mrs2 |
G |
T |
13: 25,018,534 (GRCm38) |
Q75K |
probably benign |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Neb |
G |
A |
2: 52,206,878 (GRCm38) |
|
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,328,329 (GRCm38) |
G356D |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,156,148 (GRCm38) |
|
probably benign |
Het |
| Npr2 |
A |
C |
4: 43,641,617 (GRCm38) |
S474R |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,244,616 (GRCm38) |
F100L |
probably benign |
Het |
| Osbpl6 |
A |
C |
2: 76,546,042 (GRCm38) |
D87A |
possibly damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,775,307 (GRCm38) |
M542L |
probably benign |
Het |
| Papln |
A |
G |
12: 83,783,027 (GRCm38) |
|
probably benign |
Het |
| Parpbp |
T |
C |
10: 88,092,896 (GRCm38) |
I561V |
possibly damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,442,581 (GRCm38) |
A4V |
probably benign |
Het |
| Pelp1 |
T |
C |
11: 70,395,704 (GRCm38) |
T533A |
possibly damaging |
Het |
| Poldip3 |
T |
A |
15: 83,135,296 (GRCm38) |
M182L |
probably benign |
Het |
| Por |
T |
C |
5: 135,731,178 (GRCm38) |
S240P |
possibly damaging |
Het |
| Pramel15 |
A |
T |
4: 144,377,273 (GRCm38) |
|
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,964,890 (GRCm38) |
E421G |
probably damaging |
Het |
| Prss22 |
A |
T |
17: 23,996,301 (GRCm38) |
V167D |
probably damaging |
Het |
| Prss37 |
A |
C |
6: 40,516,349 (GRCm38) |
L61R |
probably damaging |
Het |
| Psmd1 |
C |
T |
1: 86,118,616 (GRCm38) |
T702M |
probably benign |
Het |
| Pxdn |
G |
T |
12: 30,002,431 (GRCm38) |
G869V |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,453,745 (GRCm38) |
|
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,926,003 (GRCm38) |
R462G |
possibly damaging |
Het |
| Rnft2 |
A |
G |
5: 118,194,680 (GRCm38) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 63,926,636 (GRCm38) |
D1054G |
probably benign |
Het |
| Sh3bgr |
T |
C |
16: 96,228,517 (GRCm38) |
|
probably benign |
Het |
| Slc12a4 |
A |
G |
8: 105,945,350 (GRCm38) |
V910A |
possibly damaging |
Het |
| Slc6a12 |
A |
T |
6: 121,355,372 (GRCm38) |
I222F |
probably benign |
Het |
| Spty2d1 |
G |
A |
7: 46,997,901 (GRCm38) |
R427* |
probably null |
Het |
| Ssc5d |
A |
G |
7: 4,944,663 (GRCm38) |
T1339A |
probably benign |
Het |
| Sspo |
A |
C |
6: 48,455,752 (GRCm38) |
E854A |
possibly damaging |
Het |
| Stx7 |
A |
G |
10: 24,185,079 (GRCm38) |
|
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,301,730 (GRCm38) |
|
probably benign |
Het |
| Tmem163 |
T |
G |
1: 127,668,637 (GRCm38) |
|
probably benign |
Het |
| Tmppe |
C |
CT |
9: 114,404,639 (GRCm38) |
|
probably null |
Het |
| Tmx2 |
A |
G |
2: 84,673,082 (GRCm38) |
V229A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,383,174 (GRCm38) |
L54P |
probably damaging |
Het |
| Trim62 |
A |
T |
4: 128,902,550 (GRCm38) |
Y280F |
probably benign |
Het |
| Tssk4 |
A |
T |
14: 55,651,559 (GRCm38) |
K181* |
probably null |
Het |
| Tssk4 |
A |
T |
14: 55,651,560 (GRCm38) |
K181M |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 5,064,614 (GRCm38) |
D313G |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,215,123 (GRCm38) |
P113L |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,218,249 (GRCm38) |
P473L |
probably damaging |
Het |
|
| Other mutations in Rapgef6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00436:Rapgef6
|
APN |
11 |
54,679,265 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00507:Rapgef6
|
APN |
11 |
54,664,109 (GRCm38) |
nonsense |
probably null |
|
|
IGL00809:Rapgef6
|
APN |
11 |
54,649,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00843:Rapgef6
|
APN |
11 |
54,691,273 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00899:Rapgef6
|
APN |
11 |
54,620,018 (GRCm38) |
nonsense |
probably null |
|
|
IGL01372:Rapgef6
|
APN |
11 |
54,668,611 (GRCm38) |
splice site |
probably benign |
|
|
IGL01604:Rapgef6
|
APN |
11 |
54,694,563 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01935:Rapgef6
|
APN |
11 |
54,610,842 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL01991:Rapgef6
|
APN |
11 |
54,552,869 (GRCm38) |
missense |
probably benign |
0.37 |
|
IGL02243:Rapgef6
|
APN |
11 |
54,676,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02407:Rapgef6
|
APN |
11 |
54,676,355 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02676:Rapgef6
|
APN |
11 |
54,649,346 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02934:Rapgef6
|
APN |
11 |
54,625,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03076:Rapgef6
|
APN |
11 |
54,625,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03110:Rapgef6
|
APN |
11 |
54,696,089 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03256:Rapgef6
|
APN |
11 |
54,657,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
shocker
|
UTSW |
11 |
54,620,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
D4216:Rapgef6
|
UTSW |
11 |
54,668,746 (GRCm38) |
splice site |
probably benign |
|
|
PIT4305001:Rapgef6
|
UTSW |
11 |
54,679,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4366001:Rapgef6
|
UTSW |
11 |
54,691,620 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0047:Rapgef6
|
UTSW |
11 |
54,546,378 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0047:Rapgef6
|
UTSW |
11 |
54,546,378 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0125:Rapgef6
|
UTSW |
11 |
54,625,875 (GRCm38) |
nonsense |
probably null |
|
|
R0189:Rapgef6
|
UTSW |
11 |
54,691,249 (GRCm38) |
missense |
probably benign |
|
|
R0505:Rapgef6
|
UTSW |
11 |
54,625,963 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0524:Rapgef6
|
UTSW |
11 |
54,690,284 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0853:Rapgef6
|
UTSW |
11 |
54,668,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1203:Rapgef6
|
UTSW |
11 |
54,691,699 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1440:Rapgef6
|
UTSW |
11 |
54,626,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1453:Rapgef6
|
UTSW |
11 |
54,639,727 (GRCm38) |
splice site |
probably null |
|
|
R1530:Rapgef6
|
UTSW |
11 |
54,661,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1593:Rapgef6
|
UTSW |
11 |
54,546,397 (GRCm38) |
frame shift |
probably null |
|
|
R1620:Rapgef6
|
UTSW |
11 |
54,626,594 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1628:Rapgef6
|
UTSW |
11 |
54,546,397 (GRCm38) |
frame shift |
probably null |
|
|
R1629:Rapgef6
|
UTSW |
11 |
54,546,397 (GRCm38) |
frame shift |
probably null |
|
|
R1630:Rapgef6
|
UTSW |
11 |
54,546,397 (GRCm38) |
frame shift |
probably null |
|
|
R1634:Rapgef6
|
UTSW |
11 |
54,546,397 (GRCm38) |
frame shift |
probably null |
|
|
R1640:Rapgef6
|
UTSW |
11 |
54,657,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1686:Rapgef6
|
UTSW |
11 |
54,691,632 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1722:Rapgef6
|
UTSW |
11 |
54,546,397 (GRCm38) |
frame shift |
probably null |
|
|
R1743:Rapgef6
|
UTSW |
11 |
54,676,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1816:Rapgef6
|
UTSW |
11 |
54,694,488 (GRCm38) |
missense |
probably benign |
|
|
R1851:Rapgef6
|
UTSW |
11 |
54,642,811 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1852:Rapgef6
|
UTSW |
11 |
54,642,811 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1868:Rapgef6
|
UTSW |
11 |
54,546,397 (GRCm38) |
frame shift |
probably null |
|
|
R1888:Rapgef6
|
UTSW |
11 |
54,660,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1888:Rapgef6
|
UTSW |
11 |
54,660,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1942:Rapgef6
|
UTSW |
11 |
54,657,263 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1943:Rapgef6
|
UTSW |
11 |
54,657,263 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2031:Rapgef6
|
UTSW |
11 |
54,552,858 (GRCm38) |
missense |
probably benign |
0.30 |
|
R2087:Rapgef6
|
UTSW |
11 |
54,631,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2106:Rapgef6
|
UTSW |
11 |
54,668,686 (GRCm38) |
missense |
probably benign |
0.17 |
|
R2362:Rapgef6
|
UTSW |
11 |
54,694,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2484:Rapgef6
|
UTSW |
11 |
54,642,756 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R2566:Rapgef6
|
UTSW |
11 |
54,687,711 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R2872:Rapgef6
|
UTSW |
11 |
54,661,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2872:Rapgef6
|
UTSW |
11 |
54,661,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3744:Rapgef6
|
UTSW |
11 |
54,625,934 (GRCm38) |
missense |
probably benign |
0.40 |
|
R3848:Rapgef6
|
UTSW |
11 |
54,691,308 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4823:Rapgef6
|
UTSW |
11 |
54,694,500 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4859:Rapgef6
|
UTSW |
11 |
54,636,163 (GRCm38) |
missense |
probably benign |
|
|
R4906:Rapgef6
|
UTSW |
11 |
54,552,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4911:Rapgef6
|
UTSW |
11 |
54,622,317 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4937:Rapgef6
|
UTSW |
11 |
54,657,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5033:Rapgef6
|
UTSW |
11 |
54,691,381 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5249:Rapgef6
|
UTSW |
11 |
54,523,117 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5304:Rapgef6
|
UTSW |
11 |
54,657,374 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5656:Rapgef6
|
UTSW |
11 |
54,636,136 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5701:Rapgef6
|
UTSW |
11 |
54,676,394 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5758:Rapgef6
|
UTSW |
11 |
54,668,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5973:Rapgef6
|
UTSW |
11 |
54,639,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6177:Rapgef6
|
UTSW |
11 |
54,620,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6268:Rapgef6
|
UTSW |
11 |
54,649,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6287:Rapgef6
|
UTSW |
11 |
54,626,338 (GRCm38) |
splice site |
probably null |
|
|
R6293:Rapgef6
|
UTSW |
11 |
54,634,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6471:Rapgef6
|
UTSW |
11 |
54,691,737 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6863:Rapgef6
|
UTSW |
11 |
54,546,380 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6950:Rapgef6
|
UTSW |
11 |
54,676,380 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7144:Rapgef6
|
UTSW |
11 |
54,657,365 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7171:Rapgef6
|
UTSW |
11 |
54,676,363 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7199:Rapgef6
|
UTSW |
11 |
54,546,426 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7291:Rapgef6
|
UTSW |
11 |
54,691,239 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7436:Rapgef6
|
UTSW |
11 |
54,610,921 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7498:Rapgef6
|
UTSW |
11 |
54,620,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7506:Rapgef6
|
UTSW |
11 |
54,636,171 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7527:Rapgef6
|
UTSW |
11 |
54,634,961 (GRCm38) |
missense |
unknown |
|
|
R7646:Rapgef6
|
UTSW |
11 |
54,625,954 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7655:Rapgef6
|
UTSW |
11 |
54,694,453 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7656:Rapgef6
|
UTSW |
11 |
54,694,453 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7687:Rapgef6
|
UTSW |
11 |
54,661,075 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7768:Rapgef6
|
UTSW |
11 |
54,626,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7788:Rapgef6
|
UTSW |
11 |
54,694,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7890:Rapgef6
|
UTSW |
11 |
54,626,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8113:Rapgef6
|
UTSW |
11 |
54,625,958 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8337:Rapgef6
|
UTSW |
11 |
54,631,301 (GRCm38) |
nonsense |
probably null |
|
|
R8393:Rapgef6
|
UTSW |
11 |
54,687,661 (GRCm38) |
missense |
probably benign |
|
|
R8465:Rapgef6
|
UTSW |
11 |
54,691,482 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8492:Rapgef6
|
UTSW |
11 |
54,690,237 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8791:Rapgef6
|
UTSW |
11 |
54,568,469 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8866:Rapgef6
|
UTSW |
11 |
54,552,874 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8917:Rapgef6
|
UTSW |
11 |
54,691,566 (GRCm38) |
nonsense |
probably null |
|
|
R8921:Rapgef6
|
UTSW |
11 |
54,679,239 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9031:Rapgef6
|
UTSW |
11 |
54,687,841 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9093:Rapgef6
|
UTSW |
11 |
54,597,086 (GRCm38) |
nonsense |
probably null |
|
|
R9354:Rapgef6
|
UTSW |
11 |
54,619,923 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9514:Rapgef6
|
UTSW |
11 |
54,552,858 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9516:Rapgef6
|
UTSW |
11 |
54,691,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9739:Rapgef6
|
UTSW |
11 |
54,622,363 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9789:Rapgef6
|
UTSW |
11 |
54,649,271 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGAAAGCATGTAAGACCTTAGATGA -3'
(R):5'- CCCCACCCCTCTGTGTTAAGATGG -3'
Sequencing Primer
(F):5'- GATGAAGCTGTCATAATCTCCAC -3'
(R):5'- CCCTCTGTGTTAAGATGGTTTTTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation