Incidental Mutation 'R9424:Fgd5'
| ID |
712491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd5
|
| Ensembl Gene |
ENSMUSG00000034037 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
| Synonyms |
C330025N11Rik, ZFYVE23 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R9424 (G1)
|
| Quality Score |
81.9726 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91955859-92052985 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 91956017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 3
(R3*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089334]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089334
AA Change: R3*
|
| SMART Domains |
Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: R3*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,947,843 (GRCm39) |
I580N |
probably benign |
Het |
| Adam9 |
C |
A |
8: 25,445,953 (GRCm39) |
V814F |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,896,195 (GRCm39) |
E120G |
possibly damaging |
Het |
| Akap9 |
C |
A |
5: 4,012,223 (GRCm39) |
Y975* |
probably null |
Het |
| Akap9 |
C |
T |
5: 4,012,224 (GRCm39) |
Q976* |
probably null |
Het |
| Bpnt1 |
T |
C |
1: 185,070,335 (GRCm39) |
M9T |
possibly damaging |
Het |
| C4bp |
C |
A |
1: 130,584,912 (GRCm39) |
L41F |
probably damaging |
Het |
| Car3 |
A |
T |
3: 14,929,450 (GRCm39) |
I59F |
|
Het |
| Card11 |
T |
C |
5: 140,894,395 (GRCm39) |
D78G |
probably damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,820,876 (GRCm39) |
D199G |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
| Cd48 |
T |
A |
1: 171,532,432 (GRCm39) |
I237N |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,244,499 (GRCm39) |
E1319G |
probably damaging |
Het |
| Col6a4 |
C |
A |
9: 105,945,271 (GRCm39) |
A948S |
probably benign |
Het |
| Dcp1b |
T |
A |
6: 119,196,993 (GRCm39) |
Y563* |
probably null |
Het |
| Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,344,681 (GRCm39) |
Y117* |
probably null |
Het |
| Dennd2a |
A |
T |
6: 39,485,294 (GRCm39) |
Y328* |
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,916,712 (GRCm39) |
L601P |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,709,431 (GRCm39) |
T1424A |
probably damaging |
Het |
| Dlg2 |
A |
G |
7: 92,080,325 (GRCm39) |
N733S |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,272,286 (GRCm39) |
T1030M |
probably benign |
Het |
| Gbf1 |
A |
T |
19: 46,248,122 (GRCm39) |
T300S |
probably benign |
Het |
| Gm5591 |
A |
T |
7: 38,219,721 (GRCm39) |
L384Q |
probably damaging |
Het |
| Grm5 |
C |
T |
7: 87,765,484 (GRCm39) |
A904V |
probably benign |
Het |
| Havcr1 |
T |
A |
11: 46,669,391 (GRCm39) |
V290E |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,149,241 (GRCm39) |
D49G |
possibly damaging |
Het |
| Itpr2 |
A |
T |
6: 146,212,505 (GRCm39) |
I1537N |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,809,188 (GRCm39) |
T2567A |
probably benign |
Het |
| Kat8 |
T |
C |
7: 127,524,100 (GRCm39) |
L380S |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,719,792 (GRCm39) |
Y626F |
unknown |
Het |
| Lrrk2 |
T |
A |
15: 91,636,388 (GRCm39) |
L1454* |
probably null |
Het |
| Mgat4a |
C |
A |
1: 37,529,436 (GRCm39) |
V148F |
probably damaging |
Het |
| Mtg1 |
T |
A |
7: 139,727,212 (GRCm39) |
Y238* |
probably null |
Het |
| Neb |
T |
A |
2: 52,041,410 (GRCm39) |
Q6807L |
probably benign |
Het |
| Nlrp9a |
C |
A |
7: 26,260,178 (GRCm39) |
F644L |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,263 (GRCm39) |
N165S |
|
Het |
| Pcdhb5 |
C |
A |
18: 37,454,120 (GRCm39) |
Q167K |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,998,855 (GRCm39) |
M1142K |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,218,079 (GRCm39) |
V1220A |
|
Het |
| Pkd1l1 |
T |
C |
11: 8,820,091 (GRCm39) |
T1713A |
|
Het |
| Plec |
C |
A |
15: 76,115,377 (GRCm39) |
A66S |
probably benign |
Het |
| Ppfia4 |
C |
A |
1: 134,247,044 (GRCm39) |
V559F |
possibly damaging |
Het |
| Ppil6 |
T |
C |
10: 41,379,024 (GRCm39) |
S224P |
probably damaging |
Het |
| Ppp2r2d |
T |
A |
7: 138,475,978 (GRCm39) |
M262K |
possibly damaging |
Het |
| Prl7d1 |
A |
T |
13: 27,894,185 (GRCm39) |
M127K |
probably benign |
Het |
| Rassf9 |
T |
A |
10: 102,381,577 (GRCm39) |
C320S |
probably benign |
Het |
| Rbm19 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
5: 120,278,345 (GRCm39) |
|
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,335,589 (GRCm39) |
L420* |
probably null |
Het |
| Serpina3i |
A |
G |
12: 104,234,730 (GRCm39) |
T354A |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,213,544 (GRCm39) |
S34G |
probably damaging |
Het |
| Slc19a2 |
T |
C |
1: 164,076,895 (GRCm39) |
V25A |
probably damaging |
Het |
| Slc1a2 |
G |
A |
2: 102,591,394 (GRCm39) |
E375K |
probably damaging |
Het |
| Slfn9 |
T |
A |
11: 82,878,211 (GRCm39) |
Y306F |
possibly damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,241,030 (GRCm39) |
D131E |
possibly damaging |
Het |
| Srl |
A |
T |
16: 4,301,031 (GRCm39) |
L680Q |
probably damaging |
Het |
| Sufu |
G |
A |
19: 46,474,320 (GRCm39) |
W465* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,248,151 (GRCm39) |
L691P |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,703,096 (GRCm39) |
I783N |
probably damaging |
Het |
| Tmem191 |
C |
T |
16: 17,094,526 (GRCm39) |
R62* |
probably null |
Het |
| Tmem217 |
C |
A |
17: 29,745,690 (GRCm39) |
M13I |
possibly damaging |
Het |
| Triobp |
T |
C |
15: 78,844,266 (GRCm39) |
S161P |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,273,864 (GRCm39) |
V503A |
possibly damaging |
Het |
| Tspoap1 |
G |
A |
11: 87,652,082 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,582,347 (GRCm39) |
T22849A |
probably damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,402,217 (GRCm39) |
M138K |
probably damaging |
Het |
| Uimc1 |
A |
T |
13: 55,223,646 (GRCm39) |
F209I |
possibly damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
A |
T |
6: 34,861,302 (GRCm39) |
N633K |
possibly damaging |
Het |
| Zfp618 |
T |
C |
4: 63,051,282 (GRCm39) |
S688P |
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 |
|
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 |
|
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'- CTCCTTGATCATAGCCCTGG -3'
(R):5'- ATTTGGAAGGCAGGGTGTCC -3'
Sequencing Primer
(F):5'- AAAAGCCTTCCTCTCGGGAG -3'
(R):5'- TCCTGGTTTCTGAGGGGAC -3'
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| Posted On |
2022-05-16 |
Incidental Mutation