Incidental Mutation 'R6723:Fgd5'
| ID |
529687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd5
|
| Ensembl Gene |
ENSMUSG00000034037 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
| Synonyms |
C330025N11Rik, ZFYVE23 |
| MMRRC Submission |
044841-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R6723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91955859-92052985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91965011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 257
(T257A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089334]
[ENSMUST00000113466]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089334
AA Change: T415A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: T415A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
126 |
169 |
2.6e-7 |
PROSPERO |
|
internal_repeat_1
|
164 |
198 |
2.6e-7 |
PROSPERO |
|
low complexity region
|
201 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
928 |
N/A |
INTRINSIC |
|
Pfam:RhoGEF
|
946 |
1134 |
2.2e-28 |
PFAM |
|
PH
|
1165 |
1260 |
4.93e-13 |
SMART |
|
FYVE
|
1285 |
1353 |
2.51e-16 |
SMART |
|
low complexity region
|
1368 |
1390 |
N/A |
INTRINSIC |
|
PH
|
1416 |
1514 |
2.77e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113466
AA Change: T257A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: T257A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
770 |
N/A |
INTRINSIC |
|
Pfam:RhoGEF
|
788 |
976 |
1.6e-27 |
PFAM |
|
PH
|
1007 |
1102 |
4.93e-13 |
SMART |
|
FYVE
|
1127 |
1195 |
2.51e-16 |
SMART |
|
low complexity region
|
1210 |
1232 |
N/A |
INTRINSIC |
|
PH
|
1258 |
1356 |
2.77e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality during organogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
A |
G |
12: 112,745,228 (GRCm39) |
S740P |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Bcl11a |
C |
A |
11: 24,113,646 (GRCm39) |
P330T |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,441,085 (GRCm39) |
I124F |
probably benign |
Het |
| Dhdds |
T |
C |
4: 133,721,576 (GRCm39) |
T74A |
probably damaging |
Het |
| Dio3 |
G |
A |
12: 110,245,991 (GRCm39) |
C109Y |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 105,007,906 (GRCm39) |
T329S |
possibly damaging |
Het |
| Esp1 |
A |
T |
17: 41,039,747 (GRCm39) |
I11L |
probably benign |
Het |
| Fam13b |
A |
T |
18: 34,631,079 (GRCm39) |
H33Q |
possibly damaging |
Het |
| Fam13c |
G |
A |
10: 70,390,355 (GRCm39) |
D539N |
probably damaging |
Het |
| Gm5134 |
A |
G |
10: 75,844,453 (GRCm39) |
D603G |
probably benign |
Het |
| Gtpbp2 |
T |
C |
17: 46,479,202 (GRCm39) |
V588A |
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,252,090 (GRCm39) |
I312M |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,450,640 (GRCm39) |
N571S |
probably damaging |
Het |
| Iqgap1 |
T |
G |
7: 80,373,570 (GRCm39) |
D1473A |
probably benign |
Het |
| Ivl |
T |
G |
3: 92,478,694 (GRCm39) |
K457T |
unknown |
Het |
| Kdm3b |
T |
C |
18: 34,926,058 (GRCm39) |
I66T |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,824,649 (GRCm39) |
M1430K |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,515,739 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,085,099 (GRCm39) |
M163K |
probably benign |
Het |
| Lrig1 |
T |
C |
6: 94,603,386 (GRCm39) |
D254G |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,729,387 (GRCm39) |
I122V |
possibly damaging |
Het |
| Mrpl15 |
A |
C |
1: 4,852,789 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,750,258 (GRCm39) |
Y1199C |
possibly damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,456,018 (GRCm39) |
C938Y |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,368,118 (GRCm39) |
N623D |
probably damaging |
Het |
| Obscn |
T |
G |
11: 58,945,824 (GRCm39) |
E4129A |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,795 (GRCm39) |
C189S |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4d11 |
A |
G |
19: 12,013,639 (GRCm39) |
S156P |
probably damaging |
Het |
| Or5k1 |
T |
C |
16: 58,617,795 (GRCm39) |
K138R |
probably benign |
Het |
| Or6c65 |
A |
T |
10: 129,604,284 (GRCm39) |
L306F |
probably benign |
Het |
| Parm1 |
C |
T |
5: 91,770,856 (GRCm39) |
P291S |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,241,188 (GRCm39) |
|
probably null |
Het |
| Pgap6 |
C |
A |
17: 26,339,610 (GRCm39) |
T616N |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Piezo1 |
T |
G |
8: 123,234,366 (GRCm39) |
Q93H |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,571,210 (GRCm39) |
Y575F |
probably damaging |
Het |
| Plekhn1 |
A |
C |
4: 156,309,026 (GRCm39) |
F258C |
probably damaging |
Het |
| Pole |
C |
T |
5: 110,471,482 (GRCm39) |
H1409Y |
probably benign |
Het |
| Rae1 |
T |
C |
2: 172,854,041 (GRCm39) |
I273T |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,473,990 (GRCm39) |
V384A |
probably damaging |
Het |
| Rnaseh1 |
T |
C |
12: 28,699,761 (GRCm39) |
L25P |
probably damaging |
Het |
| Serpinb12 |
A |
G |
1: 106,876,888 (GRCm39) |
H68R |
probably benign |
Het |
| Sh3tc2 |
A |
T |
18: 62,111,025 (GRCm39) |
I294F |
probably damaging |
Het |
| Sirpb1b |
A |
C |
3: 15,613,858 (GRCm39) |
L75V |
possibly damaging |
Het |
| Slc12a6 |
A |
T |
2: 112,168,287 (GRCm39) |
T277S |
probably damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,564,257 (GRCm39) |
E43D |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,758 (GRCm39) |
D433E |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,125,657 (GRCm39) |
Y2451C |
possibly damaging |
Het |
| Tbl2 |
A |
T |
5: 135,188,130 (GRCm39) |
Y308F |
probably damaging |
Het |
| Tfec |
T |
C |
6: 16,835,301 (GRCm39) |
Y159C |
probably damaging |
Het |
| Top1mt |
G |
T |
15: 75,539,282 (GRCm39) |
T371K |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,928,403 (GRCm39) |
V541A |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,658,049 (GRCm39) |
Y456C |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,600,441 (GRCm39) |
R17204* |
probably null |
Het |
| Ugt1a6b |
T |
C |
1: 88,035,439 (GRCm39) |
V259A |
probably benign |
Het |
| Unc5a |
T |
C |
13: 55,143,702 (GRCm39) |
W129R |
probably benign |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,948 (GRCm39) |
H228L |
probably damaging |
Het |
| Whamm |
G |
T |
7: 81,245,868 (GRCm39) |
V775F |
probably damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,256,638 (GRCm39) |
I1536N |
probably benign |
Het |
| Zfp1 |
T |
C |
8: 112,396,971 (GRCm39) |
S317P |
probably damaging |
Het |
| Zfp58 |
T |
C |
13: 67,642,192 (GRCm39) |
T52A |
probably damaging |
Het |
|
| Other mutations in Fgd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Fgd5
|
APN |
6 |
91,965,440 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01354:Fgd5
|
APN |
6 |
92,038,824 (GRCm39) |
nonsense |
probably null |
|
|
IGL01597:Fgd5
|
APN |
6 |
91,964,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01648:Fgd5
|
APN |
6 |
91,966,340 (GRCm39) |
nonsense |
probably null |
|
|
IGL01781:Fgd5
|
APN |
6 |
91,965,698 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01977:Fgd5
|
APN |
6 |
92,001,543 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02053:Fgd5
|
APN |
6 |
92,030,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02206:Fgd5
|
APN |
6 |
91,964,239 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02825:Fgd5
|
APN |
6 |
92,015,068 (GRCm39) |
splice site |
probably null |
|
|
IGL02838:Fgd5
|
APN |
6 |
91,964,655 (GRCm39) |
missense |
probably benign |
|
|
IGL03126:Fgd5
|
APN |
6 |
92,042,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03369:Fgd5
|
APN |
6 |
91,965,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hygeia
|
UTSW |
6 |
91,966,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Imploded
|
UTSW |
6 |
92,026,912 (GRCm39) |
splice site |
probably null |
|
|
R0029:Fgd5
|
UTSW |
6 |
92,044,539 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0109:Fgd5
|
UTSW |
6 |
91,965,216 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0109:Fgd5
|
UTSW |
6 |
91,965,216 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0212:Fgd5
|
UTSW |
6 |
91,965,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Fgd5
|
UTSW |
6 |
91,964,612 (GRCm39) |
missense |
probably benign |
|
|
R1148:Fgd5
|
UTSW |
6 |
91,964,612 (GRCm39) |
missense |
probably benign |
|
|
R1159:Fgd5
|
UTSW |
6 |
91,965,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1199:Fgd5
|
UTSW |
6 |
91,963,959 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1493:Fgd5
|
UTSW |
6 |
91,964,612 (GRCm39) |
missense |
probably benign |
|
|
R1602:Fgd5
|
UTSW |
6 |
92,043,165 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1953:Fgd5
|
UTSW |
6 |
92,001,611 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2280:Fgd5
|
UTSW |
6 |
91,965,926 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2437:Fgd5
|
UTSW |
6 |
92,039,850 (GRCm39) |
nonsense |
probably null |
|
|
R2883:Fgd5
|
UTSW |
6 |
91,964,090 (GRCm39) |
splice site |
probably null |
|
|
R4133:Fgd5
|
UTSW |
6 |
92,046,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4454:Fgd5
|
UTSW |
6 |
91,966,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Fgd5
|
UTSW |
6 |
91,966,280 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4606:Fgd5
|
UTSW |
6 |
91,965,190 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4981:Fgd5
|
UTSW |
6 |
91,966,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Fgd5
|
UTSW |
6 |
92,051,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5525:Fgd5
|
UTSW |
6 |
92,043,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5570:Fgd5
|
UTSW |
6 |
91,965,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Fgd5
|
UTSW |
6 |
91,964,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6012:Fgd5
|
UTSW |
6 |
91,966,322 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6764:Fgd5
|
UTSW |
6 |
91,966,402 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7187:Fgd5
|
UTSW |
6 |
91,965,272 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7383:Fgd5
|
UTSW |
6 |
91,964,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7418:Fgd5
|
UTSW |
6 |
92,001,519 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7662:Fgd5
|
UTSW |
6 |
92,026,912 (GRCm39) |
splice site |
probably null |
|
|
R7788:Fgd5
|
UTSW |
6 |
91,965,440 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7882:Fgd5
|
UTSW |
6 |
92,045,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Fgd5
|
UTSW |
6 |
91,964,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8041:Fgd5
|
UTSW |
6 |
92,038,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8053:Fgd5
|
UTSW |
6 |
91,966,425 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8176:Fgd5
|
UTSW |
6 |
91,964,965 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8243:Fgd5
|
UTSW |
6 |
91,966,004 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8318:Fgd5
|
UTSW |
6 |
91,964,477 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8772:Fgd5
|
UTSW |
6 |
92,027,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8804:Fgd5
|
UTSW |
6 |
91,964,507 (GRCm39) |
missense |
probably benign |
|
|
R9036:Fgd5
|
UTSW |
6 |
92,046,447 (GRCm39) |
nonsense |
probably null |
|
|
R9041:Fgd5
|
UTSW |
6 |
91,964,427 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9173:Fgd5
|
UTSW |
6 |
92,044,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9206:Fgd5
|
UTSW |
6 |
92,015,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Fgd5
|
UTSW |
6 |
91,956,017 (GRCm39) |
nonsense |
probably null |
|
|
R9437:Fgd5
|
UTSW |
6 |
91,964,627 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9715:Fgd5
|
UTSW |
6 |
91,965,290 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9721:Fgd5
|
UTSW |
6 |
91,965,278 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0064:Fgd5
|
UTSW |
6 |
92,027,021 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Fgd5
|
UTSW |
6 |
91,965,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGAACCACCCAATTGTGAC -3'
(R):5'- TCATTCTCTGGCACGACCAC -3'
Sequencing Primer
(F):5'- GCCTATAATAGAGATGCCGCAGC -3'
(R):5'- CCACATCAGGGACCACCGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation