Incidental Mutation 'R8318:Fgd5'
| ID |
641806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd5
|
| Ensembl Gene |
ENSMUSG00000034037 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
| Synonyms |
C330025N11Rik, ZFYVE23 |
| MMRRC Submission |
067855-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R8318 (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 A
at 91964477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 237
(F237I)
|
| 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: F237I
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: F237I
| 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: F79I
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: F79I
| 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: 99.6%
- 20x: 98.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
T |
C |
8: 23,605,567 (GRCm39) |
V1145A |
probably damaging |
Het |
| Ankrd35 |
G |
A |
3: 96,592,038 (GRCm39) |
V775M |
probably damaging |
Het |
| Ankrd63 |
C |
T |
2: 118,533,721 (GRCm39) |
V67M |
unknown |
Het |
| Arhgef5 |
T |
A |
6: 43,252,933 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
A |
T |
4: 140,734,335 (GRCm39) |
Q1152H |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,220,442 (GRCm39) |
L1094P |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,787,442 (GRCm39) |
A612T |
unknown |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,785 (GRCm39) |
E140G |
probably damaging |
Het |
| Ddx18 |
G |
T |
1: 121,493,816 (GRCm39) |
A56D |
probably benign |
Het |
| Dixdc1 |
T |
C |
9: 50,595,709 (GRCm39) |
|
probably null |
Het |
| Dpys |
G |
A |
15: 39,648,061 (GRCm39) |
T498I |
probably benign |
Het |
| Ear6 |
A |
G |
14: 52,091,722 (GRCm39) |
I90V |
probably benign |
Het |
| Egr1 |
T |
C |
18: 34,996,663 (GRCm39) |
S482P |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,087,980 (GRCm39) |
R393Q |
probably benign |
Het |
| Enpep |
A |
G |
3: 129,063,986 (GRCm39) |
I927T |
probably damaging |
Het |
| Ermard |
C |
T |
17: 15,242,334 (GRCm39) |
T406I |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,793,341 (GRCm39) |
S971P |
probably damaging |
Het |
| Fan1 |
C |
A |
7: 63,999,803 (GRCm39) |
V861F |
probably damaging |
Het |
| Fbp1 |
A |
G |
13: 63,012,825 (GRCm39) |
F328L |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,195,502 (GRCm39) |
S401P |
unknown |
Het |
| Gabbr1 |
G |
A |
17: 37,373,435 (GRCm39) |
E444K |
probably benign |
Het |
| Htr3b |
C |
A |
9: 48,876,177 (GRCm39) |
|
probably benign |
Het |
| Ighv1-49 |
A |
G |
12: 115,019,051 (GRCm39) |
F48S |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,643,154 (GRCm39) |
L371P |
probably damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,189 (GRCm39) |
T143A |
probably damaging |
Het |
| Klk1b4 |
T |
G |
7: 43,860,335 (GRCm39) |
S150A |
possibly damaging |
Het |
| Krt6a |
A |
T |
15: 101,602,682 (GRCm39) |
M1K |
probably null |
Het |
| Lama2 |
G |
A |
10: 26,860,334 (GRCm39) |
S3051L |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,533,940 (GRCm39) |
M38T |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,735,897 (GRCm39) |
|
probably null |
Het |
| Mindy1 |
A |
G |
3: 95,199,936 (GRCm39) |
S246G |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,714,215 (GRCm39) |
T770A |
probably benign |
Het |
| Or13d1 |
T |
C |
4: 52,971,104 (GRCm39) |
V161A |
probably benign |
Het |
| Or4a81 |
C |
T |
2: 89,619,321 (GRCm39) |
C125Y |
possibly damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,242 (GRCm39) |
I205F |
probably benign |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,999 (GRCm39) |
S265T |
possibly damaging |
Het |
| Pcna |
T |
C |
2: 132,093,348 (GRCm39) |
Y133C |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,483,576 (GRCm39) |
E684G |
probably benign |
Het |
| Pon2 |
T |
C |
6: 5,265,425 (GRCm39) |
I321V |
probably benign |
Het |
| Prss54 |
T |
A |
8: 96,291,094 (GRCm39) |
M169L |
probably damaging |
Het |
| Rps3 |
T |
A |
7: 99,132,938 (GRCm39) |
|
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,962,748 (GRCm39) |
D312G |
probably damaging |
Het |
| Serpina10 |
T |
A |
12: 103,583,107 (GRCm39) |
T446S |
possibly damaging |
Het |
| Slc2a5 |
A |
G |
4: 150,224,115 (GRCm39) |
D241G |
possibly damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,372,435 (GRCm39) |
|
probably null |
Het |
| Tgfbrap1 |
G |
C |
1: 43,095,829 (GRCm39) |
C536W |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,879,063 (GRCm39) |
G9S |
unknown |
Het |
| Zfp626 |
C |
A |
7: 27,517,670 (GRCm39) |
T217K |
possibly 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 |
|
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 |
|
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'- TGTGATCACGATCCAGAGACGG -3'
(R):5'- TCTTGCTCCTGGACATCTGG -3'
Sequencing Primer
(F):5'- TCCAGAGACGGATGGGACC -3'
(R):5'- ATCTGGGGACACCTCACTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation