Incidental Mutation 'R5570:Fgd5'
| ID |
435606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd5
|
| Ensembl Gene |
ENSMUSG00000034037 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
| Synonyms |
C330025N11Rik, ZFYVE23 |
| MMRRC Submission |
043127-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R5570 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91955859-92052985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91965668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 476
(S476P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089334]
[ENSMUST00000113466]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089334
AA Change: S634P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: S634P
| 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 damaging
Transcript: ENSMUST00000113466
AA Change: S476P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: S476P
| 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: 99.7%
- 10x: 98.5%
- 20x: 95.5%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrv1 |
C |
A |
9: 36,605,577 (GRCm39) |
S41R |
probably damaging |
Het |
| Aqr |
G |
A |
2: 113,979,451 (GRCm39) |
T328M |
probably damaging |
Het |
| Arhgap26 |
C |
A |
18: 39,232,671 (GRCm39) |
D99E |
probably damaging |
Het |
| Boc |
G |
A |
16: 44,313,187 (GRCm39) |
T559I |
probably damaging |
Het |
| Cadps |
A |
T |
14: 12,473,497 (GRCm38) |
I876N |
possibly damaging |
Het |
| Cep72 |
T |
C |
13: 74,188,260 (GRCm39) |
Q211R |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,683,826 (GRCm39) |
|
probably null |
Het |
| Coq6 |
T |
A |
12: 84,415,413 (GRCm39) |
D145E |
probably benign |
Het |
| Crym |
T |
C |
7: 119,801,116 (GRCm39) |
E11G |
probably benign |
Het |
| Defb36 |
T |
A |
2: 152,454,503 (GRCm39) |
V54E |
probably damaging |
Het |
| Dlg5 |
C |
A |
14: 24,242,981 (GRCm39) |
E55* |
probably null |
Het |
| Dock2 |
G |
T |
11: 34,618,233 (GRCm39) |
R128S |
probably damaging |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,892 (GRCm39) |
K60E |
possibly damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,934,920 (GRCm39) |
R76Q |
possibly damaging |
Het |
| Espn |
T |
C |
4: 152,208,237 (GRCm39) |
E460G |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,881,022 (GRCm39) |
|
probably benign |
Het |
| Gsto1 |
T |
C |
19: 47,846,338 (GRCm39) |
W62R |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,152,180 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
C |
T |
1: 36,142,719 (GRCm39) |
P218L |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,620,211 (GRCm39) |
D226G |
possibly damaging |
Het |
| Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,810,023 (GRCm39) |
M265K |
possibly damaging |
Het |
| Map3k9 |
A |
G |
12: 81,778,798 (GRCm39) |
L505P |
possibly damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,316,930 (GRCm39) |
R645W |
possibly damaging |
Het |
| Msr1 |
T |
C |
8: 40,064,760 (GRCm39) |
I305V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,598,066 (GRCm39) |
E3237G |
possibly damaging |
Het |
| Necap1 |
T |
C |
6: 122,858,471 (GRCm39) |
F105L |
probably damaging |
Het |
| Nploc4 |
C |
T |
11: 120,275,440 (GRCm39) |
V499M |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,041,298 (GRCm39) |
V812A |
probably damaging |
Het |
| Or10ak7 |
T |
A |
4: 118,791,263 (GRCm39) |
I259F |
possibly damaging |
Het |
| Or6e1 |
A |
G |
14: 54,519,825 (GRCm39) |
F176L |
probably damaging |
Het |
| Or9g3 |
G |
A |
2: 85,589,994 (GRCm39) |
S242F |
probably damaging |
Het |
| Parn |
G |
A |
16: 13,483,794 (GRCm39) |
P50L |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,477,224 (GRCm39) |
C787R |
probably benign |
Het |
| Pdk2 |
A |
T |
11: 94,920,826 (GRCm39) |
I175N |
probably damaging |
Het |
| Pelo |
T |
C |
13: 115,226,152 (GRCm39) |
I102V |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,908,937 (GRCm39) |
D339G |
possibly damaging |
Het |
| Phlpp1 |
A |
T |
1: 106,101,162 (GRCm39) |
I477F |
probably benign |
Het |
| Pigt |
T |
A |
2: 164,343,482 (GRCm39) |
Y319* |
probably null |
Het |
| Pmpca |
A |
G |
2: 26,280,553 (GRCm39) |
E133G |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,979,859 (GRCm39) |
I321M |
|
Het |
| Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
| Qsox2 |
A |
G |
2: 26,115,230 (GRCm39) |
M1T |
probably null |
Het |
| Rara |
C |
G |
11: 98,863,478 (GRCm39) |
R382G |
probably damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,601,057 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,728,071 (GRCm39) |
|
probably null |
Het |
| Robo3 |
T |
A |
9: 37,336,571 (GRCm39) |
Y399F |
possibly damaging |
Het |
| Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
| Skint3 |
A |
G |
4: 112,092,995 (GRCm39) |
M20V |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,308,504 (GRCm39) |
D276G |
probably benign |
Het |
| Sult3a2 |
A |
T |
10: 33,654,268 (GRCm39) |
V128D |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,040,043 (GRCm39) |
V92E |
possibly damaging |
Het |
| Them7 |
A |
G |
2: 105,209,153 (GRCm39) |
T158A |
probably benign |
Het |
| Utp14b |
G |
A |
1: 78,643,118 (GRCm39) |
D339N |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,235,214 (GRCm39) |
F1259L |
probably benign |
Het |
| Vmn1r115 |
A |
C |
7: 20,578,555 (GRCm39) |
V119G |
possibly damaging |
Het |
| Zc3h12a |
C |
T |
4: 125,014,166 (GRCm39) |
R293H |
probably damaging |
Het |
| Zfp638 |
A |
T |
6: 83,956,170 (GRCm39) |
E1592D |
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 |
|
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 |
|
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'- ATCAGGCATGGGCATCAGAG -3'
(R):5'- TGTCTCCGTCTATCAGGAGTG -3'
Sequencing Primer
(F):5'- TATATTGCCAGAGGGAAAGCCTCC -3'
(R):5'- TCTATCAGGAGTGAGGGTGAGC -3'
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| Posted On |
2016-10-24 |
Incidental Mutation