Incidental Mutation 'R9206:Fgd5'
| ID |
698522 |
| 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: 0.200)
|
| Stock # |
R9206 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91955859-92052985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92015191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 964
(L964S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086748
(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: L964S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: L964S
| 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: L806S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: L806S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
A |
G |
17: 45,820,330 (GRCm39) |
D248G |
probably benign |
Het |
| Abcc5 |
C |
A |
16: 20,208,139 (GRCm39) |
V605F |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,224,406 (GRCm39) |
Y1066H |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,208,727 (GRCm39) |
S569P |
probably damaging |
Het |
| Apex1 |
T |
G |
14: 51,163,125 (GRCm39) |
D69E |
possibly damaging |
Het |
| Atg13 |
A |
T |
2: 91,512,406 (GRCm39) |
F288I |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,487,447 (GRCm39) |
I121V |
probably benign |
Het |
| Atoh1 |
A |
G |
6: 64,706,713 (GRCm39) |
E136G |
probably benign |
Het |
| Ccr7 |
T |
C |
11: 99,039,895 (GRCm39) |
N9S |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,802,505 (GRCm39) |
W653G |
probably damaging |
Het |
| Cln6 |
T |
A |
9: 62,756,465 (GRCm39) |
M203K |
probably benign |
Het |
| Crnn |
A |
C |
3: 93,054,251 (GRCm39) |
I45L |
possibly damaging |
Het |
| Cse1l |
C |
A |
2: 166,783,185 (GRCm39) |
N743K |
probably damaging |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,583 (GRCm39) |
I77T |
probably damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,943,932 (GRCm39) |
I443V |
probably benign |
Het |
| Dnah7a |
G |
T |
1: 53,540,757 (GRCm39) |
T2539N |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,875,444 (GRCm39) |
D173E |
probably damaging |
Het |
| Fam13c |
A |
G |
10: 70,388,869 (GRCm39) |
E465G |
probably damaging |
Het |
| Fat4 |
G |
C |
3: 39,063,390 (GRCm39) |
G4449R |
probably damaging |
Het |
| Fpr3 |
A |
T |
17: 18,191,131 (GRCm39) |
Q134L |
probably damaging |
Het |
| Gm973 |
A |
T |
1: 59,591,585 (GRCm39) |
Q323L |
possibly damaging |
Het |
| Gna15 |
A |
G |
10: 81,345,224 (GRCm39) |
S214P |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,050,146 (GRCm39) |
M446K |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,607,947 (GRCm39) |
S545P |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 92,979,202 (GRCm39) |
D928E |
probably damaging |
Het |
| Kif26a |
C |
T |
12: 112,144,480 (GRCm39) |
T1578M |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,079,227 (GRCm39) |
|
probably null |
Het |
| Klhl31 |
T |
A |
9: 77,558,389 (GRCm39) |
Y368* |
probably null |
Het |
| Krtap27-1 |
A |
G |
16: 88,468,316 (GRCm39) |
V76A |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,126,197 (GRCm39) |
H498Q |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,022,350 (GRCm39) |
C924S |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,197,298 (GRCm39) |
D1180G |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,577,925 (GRCm39) |
C20R |
unknown |
Het |
| Mpp7 |
T |
C |
18: 7,403,327 (GRCm39) |
R328G |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,644,041 (GRCm39) |
D260E |
probably benign |
Het |
| Nlrp9a |
C |
A |
7: 26,257,656 (GRCm39) |
L425M |
possibly damaging |
Het |
| Nop9 |
T |
A |
14: 55,987,592 (GRCm39) |
|
probably null |
Het |
| Nrip1 |
T |
C |
16: 76,089,616 (GRCm39) |
E647G |
possibly damaging |
Het |
| Nt5c3 |
C |
A |
6: 56,874,793 (GRCm39) |
M1I |
probably null |
Het |
| Or4f61 |
A |
G |
2: 111,922,410 (GRCm39) |
F212S |
probably benign |
Het |
| Or52a5b |
A |
G |
7: 103,417,478 (GRCm39) |
I42T |
probably benign |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,120 (GRCm39) |
M33T |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,427,310 (GRCm39) |
I172F |
unknown |
Het |
| Plxna4 |
A |
T |
6: 32,494,379 (GRCm39) |
V79D |
probably damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| Rbm27 |
T |
A |
18: 42,447,163 (GRCm39) |
Y469* |
probably null |
Het |
| Rbm33 |
A |
G |
5: 28,557,584 (GRCm39) |
T266A |
probably damaging |
Het |
| Rcbtb2 |
C |
T |
14: 73,414,500 (GRCm39) |
S437L |
probably damaging |
Het |
| Rcor3 |
A |
T |
1: 191,785,895 (GRCm39) |
*448R |
probably null |
Het |
| Scn10a |
T |
C |
9: 119,445,827 (GRCm39) |
Y1442C |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,548,131 (GRCm39) |
I1108F |
probably damaging |
Het |
| Scrn2 |
T |
C |
11: 96,922,962 (GRCm39) |
I135T |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,920,724 (GRCm39) |
M2380L |
possibly damaging |
Het |
| Tbc1d12 |
T |
C |
19: 38,825,442 (GRCm39) |
S98P |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,082,430 (GRCm39) |
T202S |
probably damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,450 (GRCm39) |
V205A |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,084,975 (GRCm39) |
N309K |
probably damaging |
Het |
| Trbv4 |
A |
G |
6: 41,036,624 (GRCm39) |
T50A |
probably benign |
Het |
| Tspyl4 |
A |
G |
10: 34,173,568 (GRCm39) |
H20R |
probably benign |
Het |
| Tvp23b |
T |
C |
11: 62,772,842 (GRCm39) |
I31T |
possibly damaging |
Het |
| Vmn1r192 |
A |
T |
13: 22,371,401 (GRCm39) |
F273Y |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,467,032 (GRCm39) |
I156F |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,164,882 (GRCm39) |
I737T |
probably damaging |
Het |
| Zfp329 |
A |
T |
7: 12,545,085 (GRCm39) |
D146E |
probably benign |
Het |
| Zfp40 |
A |
G |
17: 23,394,551 (GRCm39) |
F679L |
probably damaging |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,822,154 (GRCm39) |
N303S |
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 |
|
|
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'- TAGAGCCCTTGTCATCGCTC -3'
(R):5'- GGCACATGCATGGAGTTTGG -3'
Sequencing Primer
(F):5'- CTCAGGAGCTGCTGTCTTCAGAG -3'
(R):5'- CACAGTGGTGGAATGCTTACTCAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation