Incidental Mutation 'R7418:Fgd5'
| ID |
575450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd5
|
| Ensembl Gene |
ENSMUSG00000034037 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
| Synonyms |
C330025N11Rik, ZFYVE23 |
| MMRRC Submission |
045496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R7418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91955859-92052985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92001519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 905
(S905P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086748
(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: S905P
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: S905P
| 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: S747P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: S747P
| 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 |
|
| Meta Mutation Damage Score |
0.0736 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (66/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apaf1 |
T |
G |
10: 90,859,697 (GRCm39) |
H827P |
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,365,926 (GRCm39) |
L308Q |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,904,616 (GRCm39) |
L404P |
probably damaging |
Het |
| Cdh13 |
G |
A |
8: 120,039,264 (GRCm39) |
G569R |
probably damaging |
Het |
| Clec14a |
G |
A |
12: 58,315,433 (GRCm39) |
T63I |
probably damaging |
Het |
| Cngb1 |
G |
T |
8: 96,004,887 (GRCm39) |
S487* |
probably null |
Het |
| Cog5 |
A |
T |
12: 31,883,240 (GRCm39) |
N390Y |
probably damaging |
Het |
| Col6a4 |
C |
T |
9: 105,900,114 (GRCm39) |
G1670S |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,129,579 (GRCm39) |
D53E |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,444,307 (GRCm39) |
T539I |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,965,622 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
C |
T |
2: 24,774,646 (GRCm39) |
G53R |
probably benign |
Het |
| Eif2b1 |
T |
A |
5: 124,714,893 (GRCm39) |
N113Y |
probably benign |
Het |
| Eya3 |
A |
G |
4: 132,408,159 (GRCm39) |
T152A |
possibly damaging |
Het |
| Fam234b |
G |
A |
6: 135,194,009 (GRCm39) |
V221M |
probably benign |
Het |
| Fbxl13 |
T |
A |
5: 21,786,981 (GRCm39) |
T319S |
probably benign |
Het |
| Fchsd2 |
G |
T |
7: 100,920,831 (GRCm39) |
V479F |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| Fxn |
C |
T |
19: 24,257,860 (GRCm39) |
V24I |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,615,130 (GRCm39) |
D456N |
probably benign |
Het |
| Gm128 |
C |
T |
3: 95,147,878 (GRCm39) |
V139M |
possibly damaging |
Het |
| Gm973 |
A |
G |
1: 59,565,972 (GRCm39) |
T64A |
probably damaging |
Het |
| Gtf2h5 |
T |
A |
17: 6,134,903 (GRCm39) |
N64K |
probably damaging |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Haus6 |
A |
G |
4: 86,513,010 (GRCm39) |
S386P |
possibly damaging |
Het |
| Hsh2d |
A |
G |
8: 72,950,638 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
C |
5: 34,947,697 (GRCm39) |
M125T |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,635,933 (GRCm39) |
|
probably null |
Het |
| Ints4 |
G |
A |
7: 97,140,179 (GRCm39) |
A137T |
probably benign |
Het |
| Isl2 |
A |
G |
9: 55,451,636 (GRCm39) |
D263G |
probably benign |
Het |
| Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
| Jpt1 |
A |
T |
11: 115,389,095 (GRCm39) |
L116Q |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,429,775 (GRCm39) |
S86P |
possibly damaging |
Het |
| Kat2b |
G |
T |
17: 53,917,953 (GRCm39) |
R104I |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,102,362 (GRCm39) |
A331D |
probably benign |
Het |
| Kcnk3 |
G |
A |
5: 30,779,675 (GRCm39) |
V242M |
possibly damaging |
Het |
| Kdm4a |
A |
G |
4: 118,017,440 (GRCm39) |
L542P |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,907,087 (GRCm39) |
F119L |
probably damaging |
Het |
| Krtcap3 |
A |
T |
5: 31,409,881 (GRCm39) |
H149L |
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,586,005 (GRCm39) |
V102A |
probably damaging |
Het |
| Luc7l |
T |
A |
17: 26,472,156 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,975,900 (GRCm39) |
A1323S |
possibly damaging |
Het |
| Myl1 |
T |
A |
1: 66,965,338 (GRCm39) |
R151S |
unknown |
Het |
| Naif1 |
A |
G |
2: 32,342,583 (GRCm39) |
S45G |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,501,800 (GRCm39) |
T121I |
probably damaging |
Het |
| Neurod6 |
C |
T |
6: 55,656,283 (GRCm39) |
R118Q |
probably damaging |
Het |
| Npl |
A |
T |
1: 153,413,257 (GRCm39) |
|
probably null |
Het |
| Nr4a3 |
T |
C |
4: 48,051,476 (GRCm39) |
Y77H |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,320 (GRCm39) |
C125* |
probably null |
Het |
| Or4b1 |
T |
G |
2: 89,979,831 (GRCm39) |
D173A |
probably damaging |
Het |
| Pex11a |
G |
A |
7: 79,392,735 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
T |
A |
17: 29,359,470 (GRCm39) |
F553I |
unknown |
Het |
| Sbf2 |
C |
T |
7: 109,965,028 (GRCm39) |
R1002H |
probably damaging |
Het |
| Sectm1a |
C |
A |
11: 120,960,119 (GRCm39) |
|
probably null |
Het |
| Slit3 |
G |
A |
11: 35,577,255 (GRCm39) |
V1163M |
possibly damaging |
Het |
| Sphk2 |
G |
A |
7: 45,361,180 (GRCm39) |
R275C |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,466 (GRCm39) |
S96G |
probably benign |
Het |
| Tg |
A |
G |
15: 66,568,432 (GRCm39) |
E1373G |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,435,458 (GRCm39) |
|
probably null |
Het |
| Trp53 |
T |
C |
11: 69,479,214 (GRCm39) |
F131L |
probably damaging |
Het |
| Ttc21a |
A |
T |
9: 119,788,117 (GRCm39) |
E847D |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,602,791 (GRCm39) |
F18477S |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,910,730 (GRCm39) |
R929* |
probably null |
Het |
| Usp49 |
G |
T |
17: 47,983,093 (GRCm39) |
E33* |
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,806,554 (GRCm39) |
V26A |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,081 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,105,366 (GRCm39) |
V154I |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,799 (GRCm39) |
K446E |
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 |
|
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 |
|
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'- ATGGGGTTGTCTTAAGCAGC -3'
(R):5'- CAGGGTGTGGTCTTTCCCATTC -3'
Sequencing Primer
(F):5'- CTTAAGCAGCATGTGTAAAGGTACC -3'
(R):5'- GGTGTGGTCTTTCCCATTCTCTCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation