Incidental Mutation 'R8243:Fgd5'
ID |
637647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgd5
|
Ensembl Gene |
ENSMUSG00000034037 |
Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
Synonyms |
C330025N11Rik, ZFYVE23 |
MMRRC Submission |
067648-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R8243 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
91955859-92052985 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 91966004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 746
(L746F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089334]
[ENSMUST00000113466]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089334
AA Change: L746F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000086748 Gene: ENSMUSG00000034037 AA Change: L746F
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 |
possibly damaging
Transcript: ENSMUST00000113466
AA Change: L588F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109093 Gene: ENSMUSG00000034037 AA Change: L588F
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: 99.8%
- 3x: 99.5%
- 10x: 98.7%
- 20x: 96.0%
|
Validation Efficiency |
100% (47/47) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
A |
11: 46,015,909 (GRCm39) |
H356Q |
probably damaging |
Het |
BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
Bcl6 |
C |
T |
16: 23,786,883 (GRCm39) |
C636Y |
probably damaging |
Het |
Cabyr |
G |
T |
18: 12,883,759 (GRCm39) |
C82F |
probably benign |
Het |
Clec4a1 |
T |
C |
6: 122,901,778 (GRCm39) |
V70A |
possibly damaging |
Het |
Col11a1 |
C |
T |
3: 113,855,141 (GRCm39) |
P134S |
unknown |
Het |
Col27a1 |
A |
G |
4: 63,144,120 (GRCm39) |
T603A |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,576,468 (GRCm39) |
D1964G |
probably damaging |
Het |
Dnajc8 |
A |
G |
4: 132,278,775 (GRCm39) |
|
probably null |
Het |
E330034G19Rik |
T |
C |
14: 24,358,360 (GRCm39) |
Y318H |
|
Het |
Efemp1 |
T |
A |
11: 28,871,690 (GRCm39) |
S402T |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,097,411 (GRCm39) |
V110A |
possibly damaging |
Het |
Gna13 |
A |
G |
11: 109,287,239 (GRCm39) |
N354S |
probably damaging |
Het |
Helq |
G |
T |
5: 100,918,348 (GRCm39) |
S855R |
possibly damaging |
Het |
Hps5 |
G |
T |
7: 46,436,066 (GRCm39) |
A160E |
probably damaging |
Het |
Igfbp7 |
T |
A |
5: 77,549,339 (GRCm39) |
E188V |
probably benign |
Het |
Ivd |
A |
G |
2: 118,702,018 (GRCm39) |
Y150C |
probably damaging |
Het |
Jade2 |
T |
C |
11: 51,708,045 (GRCm39) |
T723A |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,288,724 (GRCm39) |
N1239S |
probably benign |
Het |
Klb |
A |
G |
5: 65,536,338 (GRCm39) |
N556S |
possibly damaging |
Het |
Klhdc8a |
C |
T |
1: 132,230,304 (GRCm39) |
R140C |
possibly damaging |
Het |
Klhl2 |
T |
A |
8: 65,202,084 (GRCm39) |
M531L |
probably benign |
Het |
Mark3 |
T |
A |
12: 111,613,956 (GRCm39) |
S546R |
possibly damaging |
Het |
Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
Musk |
G |
A |
4: 58,293,600 (GRCm39) |
R63K |
probably benign |
Het |
Nacad |
C |
T |
11: 6,552,643 (GRCm39) |
E183K |
probably damaging |
Het |
Oasl1 |
T |
C |
5: 115,066,220 (GRCm39) |
Y113H |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,917,484 (GRCm39) |
C254S |
probably benign |
Het |
Or1x2 |
C |
T |
11: 50,918,138 (GRCm39) |
T103M |
probably benign |
Het |
Or4c111 |
T |
A |
2: 88,844,051 (GRCm39) |
Y119F |
probably benign |
Het |
Or51ab3 |
A |
T |
7: 103,201,205 (GRCm39) |
D71V |
probably damaging |
Het |
Or8b56 |
A |
G |
9: 38,739,803 (GRCm39) |
E272G |
|
Het |
P4hb |
T |
C |
11: 120,454,206 (GRCm39) |
D296G |
probably benign |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Plekhh1 |
G |
A |
12: 79,125,843 (GRCm39) |
R1293H |
probably benign |
Het |
Prss21 |
A |
G |
17: 24,088,376 (GRCm39) |
T114A |
probably damaging |
Het |
Ptprn |
T |
C |
1: 75,229,179 (GRCm39) |
D776G |
probably damaging |
Het |
Rffl |
A |
G |
11: 82,703,621 (GRCm39) |
C101R |
probably damaging |
Het |
Rundc1 |
A |
G |
11: 101,316,384 (GRCm39) |
D152G |
probably benign |
Het |
Sema6c |
A |
G |
3: 95,079,916 (GRCm39) |
T737A |
probably damaging |
Het |
Sppl2c |
A |
G |
11: 104,078,687 (GRCm39) |
T496A |
probably damaging |
Het |
Supt7l |
T |
C |
5: 31,673,013 (GRCm39) |
I412V |
probably benign |
Het |
Trim38 |
T |
A |
13: 23,975,378 (GRCm39) |
I439N |
probably damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Usp18 |
G |
A |
6: 121,246,103 (GRCm39) |
R353H |
probably benign |
Het |
Usp42 |
T |
C |
5: 143,700,849 (GRCm39) |
K1058R |
probably benign |
Het |
Utp25 |
T |
C |
1: 192,796,937 (GRCm39) |
D598G |
probably benign |
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 |
R6723:Fgd5
|
UTSW |
6 |
91,965,011 (GRCm39) |
missense |
probably benign |
|
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 |
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'- TCACCCTCACTCCTGATAGACG -3'
(R):5'- AATGAGATGGACCGTGGCTTG -3'
Sequencing Primer
(F):5'- TCCTGATAGACGGAGACACCCTG -3'
(R):5'- CTTGGTGAGGGGCAGAGGC -3'
|
Posted On |
2020-07-13 |