Incidental Mutation 'R4133:Fgd5'
| ID |
314740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd5
|
| Ensembl Gene |
ENSMUSG00000034037 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
| Synonyms |
C330025N11Rik, ZFYVE23 |
| MMRRC Submission |
041637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R4133 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91955859-92052985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92046418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1229
(V1229A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109093
(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: V1387A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: V1387A
| 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: V1229A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: V1229A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146743
|
| Meta Mutation Damage Score |
0.1258 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (77/79) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700036A12Rik |
T |
A |
9: 60,677,280 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh3b1 |
A |
G |
19: 3,970,808 (GRCm39) |
I184T |
probably damaging |
Het |
| Arhgap42 |
C |
T |
9: 9,011,300 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,845,185 (GRCm39) |
D1463G |
probably damaging |
Het |
| Arpc5 |
A |
G |
1: 152,644,622 (GRCm39) |
T52A |
probably benign |
Het |
| Asb6 |
A |
G |
2: 30,718,247 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,889,567 (GRCm39) |
V482A |
probably benign |
Het |
| Bop1 |
T |
C |
15: 76,338,535 (GRCm39) |
N469S |
probably benign |
Het |
| Btaf1 |
T |
A |
19: 36,939,138 (GRCm39) |
N266K |
probably benign |
Het |
| Btla |
T |
C |
16: 45,059,661 (GRCm39) |
Y122H |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,323,370 (GRCm39) |
M1278T |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,287,976 (GRCm39) |
S524P |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,946,519 (GRCm39) |
S438P |
probably damaging |
Het |
| Clca4a |
T |
G |
3: 144,675,113 (GRCm39) |
E171D |
probably benign |
Het |
| Cldn6 |
A |
T |
17: 23,900,467 (GRCm39) |
I144F |
probably damaging |
Het |
| Cpd |
G |
A |
11: 76,705,644 (GRCm39) |
Q363* |
probably null |
Het |
| Cpn1 |
G |
A |
19: 43,974,723 (GRCm39) |
P2L |
possibly damaging |
Het |
| Ddx31 |
A |
G |
2: 28,748,864 (GRCm39) |
D264G |
probably damaging |
Het |
| Ddx39b |
C |
T |
17: 35,472,065 (GRCm39) |
S368L |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,425,254 (GRCm39) |
K681E |
probably damaging |
Het |
| Dennd1c |
A |
C |
17: 57,383,980 (GRCm39) |
W15G |
possibly damaging |
Het |
| Dgkd |
T |
G |
1: 87,869,223 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
G |
T |
1: 46,705,150 (GRCm39) |
A2388S |
probably benign |
Het |
| Etv4 |
C |
A |
11: 101,661,324 (GRCm39) |
K442N |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,432,532 (GRCm39) |
D539G |
probably damaging |
Het |
| Fancm |
A |
G |
12: 65,167,304 (GRCm39) |
T1538A |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,229,034 (GRCm39) |
N725K |
possibly damaging |
Het |
| Fcer2a |
T |
A |
8: 3,741,130 (GRCm39) |
N4I |
possibly damaging |
Het |
| Garin4 |
A |
T |
1: 190,895,205 (GRCm39) |
N479K |
probably benign |
Het |
| Gm5471 |
A |
T |
15: 44,835,297 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5478 |
T |
A |
15: 101,553,080 (GRCm39) |
I331F |
probably damaging |
Het |
| Gm6729 |
C |
A |
10: 86,377,030 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
G |
T |
5: 121,415,897 (GRCm39) |
|
probably null |
Het |
| Hspb3 |
A |
C |
13: 113,800,027 (GRCm39) |
M1R |
probably null |
Het |
| Igkv10-95 |
T |
C |
6: 68,657,601 (GRCm39) |
V19A |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,541,636 (GRCm39) |
S626G |
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,228,003 (GRCm39) |
H103R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,152,996 (GRCm39) |
D894E |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,605 (GRCm39) |
H225R |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,119,481 (GRCm39) |
I2653F |
probably damaging |
Het |
| Map4k5 |
A |
T |
12: 69,892,497 (GRCm39) |
L144Q |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,842,482 (GRCm39) |
Y252C |
probably damaging |
Het |
| Mmgt2 |
A |
G |
11: 62,555,877 (GRCm39) |
E75G |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Nckap5 |
A |
G |
1: 126,150,443 (GRCm39) |
V162A |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,636,378 (GRCm39) |
I493T |
probably damaging |
Het |
| Or2ag16 |
A |
C |
7: 106,352,286 (GRCm39) |
L103R |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,901 (GRCm39) |
Y77F |
probably damaging |
Het |
| Or9s15 |
T |
C |
1: 92,524,465 (GRCm39) |
F75L |
probably benign |
Het |
| Papola |
A |
G |
12: 105,765,917 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,306,289 (GRCm39) |
R36Q |
probably benign |
Het |
| Ptpro |
G |
T |
6: 137,397,370 (GRCm39) |
W81C |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,773 (GRCm39) |
S162P |
possibly damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,869,196 (GRCm39) |
S540P |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,315,438 (GRCm39) |
T1757S |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,900,206 (GRCm39) |
I1154V |
probably benign |
Het |
| Sirt1 |
T |
C |
10: 63,171,438 (GRCm39) |
I209V |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,009,218 (GRCm39) |
I406L |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,450,947 (GRCm39) |
E255G |
probably damaging |
Het |
| Snap91 |
C |
A |
9: 86,659,102 (GRCm39) |
G477V |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,404,548 (GRCm39) |
Q2780R |
probably benign |
Het |
| Spmap2 |
T |
C |
10: 79,415,884 (GRCm39) |
T236A |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,312,095 (GRCm39) |
Y196C |
probably damaging |
Het |
| Ssxb9 |
A |
T |
X: 8,235,845 (GRCm39) |
T18S |
probably damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,028,481 (GRCm39) |
I527M |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,968 (GRCm39) |
Y69C |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,616,361 (GRCm39) |
D87G |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,783 (GRCm39) |
K213R |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,197,240 (GRCm39) |
L1221Q |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,183,138 (GRCm39) |
Y187F |
probably damaging |
Het |
| Washc2 |
G |
A |
6: 116,235,891 (GRCm39) |
E1121K |
probably damaging |
Het |
| Zfx |
T |
C |
X: 93,124,464 (GRCm39) |
N360D |
probably damaging |
Het |
| Znhit3 |
A |
G |
11: 84,807,139 (GRCm39) |
V10A |
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 |
|
|
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 |
|
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'- TGGGAAAATGCCACCATGCC -3'
(R):5'- TTCTCTTTGTGCAGAAGAGCC -3'
Sequencing Primer
(F):5'- TGCTCAGCATCAGCAGGAAG -3'
(R):5'- TGCAGAAGAGCCTGGCCAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation