Incidental Mutation 'R9041:Fgd5'
| ID |
687720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd5
|
| Ensembl Gene |
ENSMUSG00000034037 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
| Synonyms |
C330025N11Rik, ZFYVE23 |
| MMRRC Submission |
068868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R9041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91955859-92052985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91964427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 220
(E220G)
|
| 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: E220G
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: E220G
| 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: E62G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: E62G
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,062,054 (GRCm39) |
I168T |
probably benign |
Het |
| Acvr2b |
G |
T |
9: 119,257,052 (GRCm39) |
E94* |
probably null |
Het |
| Adcy8 |
A |
T |
15: 64,609,287 (GRCm39) |
I874N |
probably benign |
Het |
| Ahcyl |
T |
G |
16: 45,974,468 (GRCm39) |
D303A |
possibly damaging |
Het |
| Angptl1 |
G |
T |
1: 156,685,999 (GRCm39) |
D362Y |
probably damaging |
Het |
| Arc |
A |
G |
15: 74,543,896 (GRCm39) |
V109A |
probably damaging |
Het |
| Asphd2 |
T |
A |
5: 112,539,768 (GRCm39) |
T22S |
probably benign |
Het |
| Caprin2 |
A |
T |
6: 148,771,030 (GRCm39) |
N321K |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,282,793 (GRCm39) |
D547G |
possibly damaging |
Het |
| Cd38 |
G |
A |
5: 44,058,899 (GRCm39) |
|
probably null |
Het |
| Cd3g |
A |
G |
9: 44,884,818 (GRCm39) |
V142A |
possibly damaging |
Het |
| Chrna6 |
A |
T |
8: 27,896,923 (GRCm39) |
I318N |
probably damaging |
Het |
| Cmah |
T |
C |
13: 24,641,004 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cplx4 |
T |
C |
18: 66,103,097 (GRCm39) |
M8V |
probably damaging |
Het |
| Dnajc19 |
T |
C |
3: 34,134,282 (GRCm39) |
K27R |
probably damaging |
Het |
| E2f3 |
C |
A |
13: 30,093,939 (GRCm39) |
D441Y |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,822,818 (GRCm39) |
K777R |
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,532,715 (GRCm39) |
V551I |
probably benign |
Het |
| Gal3st2 |
T |
C |
1: 93,800,206 (GRCm39) |
V19A |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,357,530 (GRCm39) |
E246G |
probably benign |
Het |
| Gm10228 |
A |
T |
16: 88,838,113 (GRCm39) |
Y64N |
unknown |
Het |
| Gsdmc4 |
T |
C |
15: 63,774,586 (GRCm39) |
N65S |
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,103,861 (GRCm39) |
A1105S |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,724,909 (GRCm39) |
L376* |
probably null |
Het |
| Il6st |
A |
G |
13: 112,611,631 (GRCm39) |
T18A |
probably benign |
Het |
| Kif3b |
T |
C |
2: 153,159,468 (GRCm39) |
I423T |
probably benign |
Het |
| Klf17 |
T |
C |
4: 117,617,556 (GRCm39) |
Y267C |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,927,093 (GRCm39) |
T1183A |
probably benign |
Het |
| Lrrc71 |
A |
G |
3: 87,650,660 (GRCm39) |
S201P |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,509 (GRCm39) |
D75E |
probably damaging |
Het |
| Myef2l |
T |
C |
3: 10,157,353 (GRCm39) |
*499Q |
probably null |
Het |
| Myf6 |
A |
G |
10: 107,329,225 (GRCm39) |
V240A |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,450 (GRCm39) |
M698V |
possibly damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,108,753 (GRCm39) |
S1287P |
possibly damaging |
Het |
| Or10ab5 |
A |
G |
7: 108,245,589 (GRCm39) |
S65P |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,400,441 (GRCm39) |
S1052T |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,538,132 (GRCm39) |
C898* |
probably null |
Het |
| Pdcd1 |
T |
C |
1: 93,969,091 (GRCm39) |
T76A |
probably benign |
Het |
| Plin2 |
T |
A |
4: 86,578,504 (GRCm39) |
M198L |
probably benign |
Het |
| Prmt7 |
T |
A |
8: 106,963,460 (GRCm39) |
V180D |
possibly damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,320,405 (GRCm39) |
Y549H |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,600,018 (GRCm39) |
S80P |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,787,546 (GRCm39) |
E235D |
probably damaging |
Het |
| Scart1 |
T |
C |
7: 139,808,503 (GRCm39) |
C805R |
probably damaging |
Het |
| Serpina9 |
A |
T |
12: 103,967,737 (GRCm39) |
S219R |
|
Het |
| Sesn2 |
G |
A |
4: 132,225,272 (GRCm39) |
T298I |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,324,872 (GRCm39) |
V838E |
possibly damaging |
Het |
| Sfpq |
C |
A |
4: 126,915,296 (GRCm39) |
H29Q |
unknown |
Het |
| Smchd1 |
A |
G |
17: 71,701,710 (GRCm39) |
|
probably null |
Het |
| Sprr1b |
A |
G |
3: 92,344,477 (GRCm39) |
V133A |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,754,054 (GRCm39) |
Y243C |
probably damaging |
Het |
| Thop1 |
C |
T |
10: 80,917,228 (GRCm39) |
A577V |
possibly damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,410,014 (GRCm39) |
D200V |
probably benign |
Het |
| Treh |
A |
T |
9: 44,596,677 (GRCm39) |
K512M |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,845,127 (GRCm39) |
V1537A |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,582,083 (GRCm39) |
T44A |
probably benign |
Het |
| Vmn1r225 |
T |
A |
17: 20,722,577 (GRCm39) |
M6K |
possibly damaging |
Het |
| Vmn2r90 |
A |
C |
17: 17,954,286 (GRCm39) |
M817L |
probably benign |
Het |
| Zfp68 |
A |
T |
5: 138,604,699 (GRCm39) |
Y541* |
probably null |
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 |
|
|
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'- CCACGCTCTGGAAGATGAAG -3'
(R):5'- ATCCTCTGTGTCCTGACCAGTG -3'
Sequencing Primer
(F):5'- TGAAGACTGTGATCACGATCC -3'
(R):5'- CCTGACCAGTGTCCTGATTGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation