Incidental Mutation 'R8176:Fgd5'
ID |
634339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fgd5
|
Ensembl Gene |
ENSMUSG00000034037 |
Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
Synonyms |
C330025N11Rik, ZFYVE23 |
MMRRC Submission |
067601-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.196)
|
Stock # |
R8176 (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 A
at 91964965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 399
(N399K)
|
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: N399K
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000086748 Gene: ENSMUSG00000034037 AA Change: N399K
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: N241K
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000109093 Gene: ENSMUSG00000034037 AA Change: N241K
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (59/59) |
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 |
6030469F06Rik |
T |
A |
12: 31,235,135 (GRCm39) |
F172I |
noncoding transcript |
Het |
Aatk |
A |
G |
11: 119,907,241 (GRCm39) |
V154A |
probably damaging |
Het |
Abca6 |
A |
C |
11: 110,135,020 (GRCm39) |
V255G |
probably benign |
Het |
Adam8 |
T |
C |
7: 139,568,786 (GRCm39) |
K211E |
probably benign |
Het |
Alg12 |
A |
G |
15: 88,690,084 (GRCm39) |
V470A |
possibly damaging |
Het |
Anks1b |
C |
A |
10: 89,905,353 (GRCm39) |
H231Q |
probably damaging |
Het |
Bcl2 |
T |
C |
1: 106,640,528 (GRCm39) |
Y28C |
probably damaging |
Het |
Bms1 |
G |
T |
6: 118,395,411 (GRCm39) |
F45L |
probably damaging |
Het |
Btd |
T |
A |
14: 31,384,073 (GRCm39) |
F20I |
probably benign |
Het |
C1rl |
T |
C |
6: 124,470,844 (GRCm39) |
S51P |
probably benign |
Het |
Capn7 |
C |
A |
14: 31,069,729 (GRCm39) |
F184L |
probably benign |
Het |
Cd300lg |
A |
T |
11: 101,932,390 (GRCm39) |
|
probably benign |
Het |
Cdc34 |
T |
C |
10: 79,518,362 (GRCm39) |
Y39H |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,935,851 (GRCm39) |
K429E |
probably damaging |
Het |
Cfap43 |
T |
C |
19: 47,784,114 (GRCm39) |
N473S |
probably benign |
Het |
Cntln |
C |
T |
4: 84,806,926 (GRCm39) |
T136I |
probably damaging |
Het |
Cyfip1 |
A |
T |
7: 55,574,175 (GRCm39) |
L1032F |
probably benign |
Het |
Dach1 |
C |
T |
14: 98,153,916 (GRCm39) |
V392I |
probably benign |
Het |
Dnah14 |
C |
T |
1: 181,484,598 (GRCm39) |
S1590L |
probably damaging |
Het |
Dsp |
T |
C |
13: 38,376,786 (GRCm39) |
Y1524H |
possibly damaging |
Het |
Dusp13b |
T |
C |
14: 21,797,549 (GRCm39) |
I103V |
possibly damaging |
Het |
Eeig1 |
A |
G |
2: 32,453,624 (GRCm39) |
T158A |
probably benign |
Het |
Efhb |
T |
C |
17: 53,707,874 (GRCm39) |
Y763C |
probably damaging |
Het |
Fam117a |
G |
T |
11: 95,227,965 (GRCm39) |
R25L |
unknown |
Het |
Fcgbp |
T |
C |
7: 27,791,174 (GRCm39) |
S812P |
possibly damaging |
Het |
Foxi3 |
T |
A |
6: 70,934,017 (GRCm39) |
I168N |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,562,761 (GRCm39) |
I582K |
possibly damaging |
Het |
Gm21915 |
T |
A |
9: 40,582,266 (GRCm39) |
S120T |
probably benign |
Het |
Gtf3c5 |
A |
G |
2: 28,460,429 (GRCm39) |
|
probably null |
Het |
Hecw1 |
A |
T |
13: 14,422,286 (GRCm39) |
|
probably null |
Het |
Hsf2 |
T |
A |
10: 57,381,290 (GRCm39) |
Y293* |
probably null |
Het |
Ints10 |
T |
A |
8: 69,255,603 (GRCm39) |
Y198N |
probably damaging |
Het |
Iqgap3 |
A |
G |
3: 88,001,957 (GRCm39) |
E399G |
probably damaging |
Het |
Itsn1 |
T |
A |
16: 91,645,597 (GRCm39) |
|
probably null |
Het |
Kcnh8 |
T |
C |
17: 53,285,122 (GRCm39) |
S1031P |
probably damaging |
Het |
Llgl1 |
A |
G |
11: 60,597,387 (GRCm39) |
T279A |
probably benign |
Het |
Ly6a |
C |
T |
15: 74,868,300 (GRCm39) |
|
probably null |
Het |
Marchf4 |
T |
C |
1: 72,573,998 (GRCm39) |
E100G |
probably damaging |
Het |
Mta1 |
A |
G |
12: 113,084,456 (GRCm39) |
E84G |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,467,886 (GRCm39) |
Y808C |
probably benign |
Het |
Ncoa1 |
A |
G |
12: 4,317,858 (GRCm39) |
V1158A |
possibly damaging |
Het |
Npepps |
A |
G |
11: 97,126,977 (GRCm39) |
S428P |
probably damaging |
Het |
Onecut2 |
A |
T |
18: 64,473,931 (GRCm39) |
T161S |
possibly damaging |
Het |
Or10j27 |
C |
T |
1: 172,958,383 (GRCm39) |
V134I |
probably benign |
Het |
Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
Or6c5 |
T |
G |
10: 129,074,747 (GRCm39) |
M243R |
probably benign |
Het |
Pdp2 |
A |
G |
8: 105,321,687 (GRCm39) |
D512G |
probably damaging |
Het |
Pex11b |
G |
T |
3: 96,551,027 (GRCm39) |
V171L |
probably benign |
Het |
Potefam2 |
T |
C |
7: 62,432,783 (GRCm39) |
|
probably null |
Het |
Ppil3 |
A |
T |
1: 58,480,078 (GRCm39) |
C32* |
probably null |
Het |
Prune2 |
T |
C |
19: 17,095,656 (GRCm39) |
Y387H |
probably damaging |
Het |
Rbp3 |
C |
A |
14: 33,677,605 (GRCm39) |
H518N |
possibly damaging |
Het |
Rhot2 |
T |
C |
17: 26,063,068 (GRCm39) |
Y58C |
probably damaging |
Het |
Sec16b |
C |
A |
1: 157,362,981 (GRCm39) |
H271N |
probably damaging |
Het |
Sgo2a |
A |
G |
1: 58,056,252 (GRCm39) |
D812G |
possibly damaging |
Het |
Skap2 |
T |
C |
6: 51,884,878 (GRCm39) |
E261G |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,865,117 (GRCm39) |
N755S |
probably benign |
Het |
Stat5a |
T |
A |
11: 100,767,689 (GRCm39) |
M419K |
probably damaging |
Het |
Tecta |
C |
T |
9: 42,270,465 (GRCm39) |
C1281Y |
probably damaging |
Het |
Tm9sf2 |
T |
G |
14: 122,374,913 (GRCm39) |
S196R |
probably benign |
Het |
Trpm8 |
A |
T |
1: 88,292,837 (GRCm39) |
H946L |
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 |
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'- CAGGAGGAACCACCCAATTG -3'
(R):5'- TCATTCTCTGGCACGACCAC -3'
Sequencing Primer
(F):5'- CCCAATTGTGACGAGGAAGCC -3'
(R):5'- ACATCAGGGACCACCGG -3'
|
Posted On |
2020-07-13 |