Incidental Mutation 'R8041:Fgd5'
| ID |
618521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd5
|
| Ensembl Gene |
ENSMUSG00000034037 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 5 |
| Synonyms |
C330025N11Rik, ZFYVE23 |
| MMRRC Submission |
067478-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R8041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91955859-92052985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92038837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1157
(D1157V)
|
| 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: D1157V
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: D1157V
| 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 |
possibly damaging
Transcript: ENSMUST00000113466
AA Change: D999V
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: D999V
| 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: 99.4%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
A |
T |
18: 61,891,754 (GRCm39) |
L21Q |
probably damaging |
Het |
| Ago1 |
G |
A |
4: 126,335,729 (GRCm39) |
R661C |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
| Aoc3 |
T |
C |
11: 101,223,132 (GRCm39) |
V456A |
probably benign |
Het |
| Aopep |
G |
C |
13: 63,180,921 (GRCm39) |
W294C |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,547,311 (GRCm39) |
F1223L |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,122,507 (GRCm39) |
F33S |
possibly damaging |
Het |
| Ccnjl |
T |
C |
11: 43,470,538 (GRCm39) |
V102A |
probably damaging |
Het |
| Cd48 |
T |
C |
1: 171,526,958 (GRCm39) |
V128A |
probably damaging |
Het |
| Cmah |
A |
G |
13: 24,652,601 (GRCm39) |
D577G |
probably benign |
Het |
| Cnnm4 |
A |
G |
1: 36,511,174 (GRCm39) |
K134R |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,187,209 (GRCm39) |
Y594N |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,318,626 (GRCm39) |
E1375G |
unknown |
Het |
| Comtd1 |
T |
A |
14: 21,897,985 (GRCm39) |
E153V |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,404,395 (GRCm39) |
T2716S |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,762,928 (GRCm39) |
S143T |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,656,885 (GRCm39) |
D593G |
possibly damaging |
Het |
| Dok6 |
A |
G |
18: 89,578,213 (GRCm39) |
I68T |
possibly damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,953,658 (GRCm39) |
I563V |
probably benign |
Het |
| Eapp |
A |
G |
12: 54,739,650 (GRCm39) |
S56P |
probably damaging |
Het |
| Efcab3 |
T |
G |
11: 104,810,305 (GRCm39) |
D3147E |
unknown |
Het |
| Fmn1 |
T |
A |
2: 113,194,939 (GRCm39) |
L213Q |
unknown |
Het |
| Foxo1 |
T |
A |
3: 52,253,044 (GRCm39) |
Y402* |
probably null |
Het |
| Fyb2 |
C |
A |
4: 104,857,681 (GRCm39) |
F619L |
possibly damaging |
Het |
| Gtf2i |
A |
T |
5: 134,322,599 (GRCm39) |
|
probably null |
Het |
| Hrh1 |
G |
A |
6: 114,456,878 (GRCm39) |
R53H |
not run |
Het |
| Hydin |
A |
T |
8: 111,301,626 (GRCm39) |
M3786L |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,555,268 (GRCm39) |
R805G |
possibly damaging |
Het |
| Igfn1 |
C |
A |
1: 135,895,797 (GRCm39) |
G1590* |
probably null |
Het |
| Jph3 |
A |
C |
8: 122,516,201 (GRCm39) |
I740L |
probably benign |
Het |
| Kbtbd7 |
T |
A |
14: 79,666,144 (GRCm39) |
F659I |
probably benign |
Het |
| Kcns2 |
A |
T |
15: 34,839,291 (GRCm39) |
Q218L |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,537,398 (GRCm39) |
N1119S |
probably benign |
Het |
| Krit1 |
A |
T |
5: 3,857,309 (GRCm39) |
H38L |
probably benign |
Het |
| Krt20 |
T |
A |
11: 99,328,663 (GRCm39) |
R87S |
probably damaging |
Het |
| Ly6g5c |
A |
G |
17: 35,330,808 (GRCm39) |
E110G |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,454,707 (GRCm39) |
F1035S |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,865 (GRCm39) |
D416V |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,352,768 (GRCm39) |
L566* |
probably null |
Het |
| Or12d17 |
T |
C |
17: 37,777,540 (GRCm39) |
F148L |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,488 (GRCm39) |
C95* |
probably null |
Het |
| Or51ai2 |
T |
C |
7: 103,586,788 (GRCm39) |
L67P |
probably damaging |
Het |
| Or5p69 |
T |
C |
7: 107,966,741 (GRCm39) |
F15L |
probably damaging |
Het |
| Pcdhb19 |
T |
C |
18: 37,630,367 (GRCm39) |
L54P |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,259,519 (GRCm39) |
F1272S |
probably damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Reep4 |
T |
C |
14: 70,785,627 (GRCm39) |
Y186H |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,356,702 (GRCm39) |
T89A |
possibly damaging |
Het |
| Shc1 |
T |
C |
3: 89,330,260 (GRCm39) |
S175P |
probably damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,063,645 (GRCm39) |
S1156P |
probably damaging |
Het |
| Slc1a3 |
G |
A |
15: 8,665,683 (GRCm39) |
P522L |
probably benign |
Het |
| Slc6a17 |
T |
A |
3: 107,381,744 (GRCm39) |
T446S |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,387,290 (GRCm39) |
N250Y |
possibly damaging |
Het |
| Tex15 |
G |
T |
8: 34,065,874 (GRCm39) |
R1768L |
probably damaging |
Het |
| Ttll9 |
G |
C |
2: 152,844,956 (GRCm39) |
Q441H |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,171,545 (GRCm39) |
V24E |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,726 (GRCm39) |
E888G |
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,750 (GRCm39) |
S607P |
possibly damaging |
Het |
| Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,875,965 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
T |
C |
5: 38,358,198 (GRCm39) |
D685G |
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 |
|
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'- TCACCTTTCATCTCTGGGAGAG -3'
(R):5'- AGCAGAACTGATTGGCACTG -3'
Sequencing Primer
(F):5'- CTGCCTGCCGTTTCTTGGAG -3'
(R):5'- GTTTCTTTAACTGCCCCGAGAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation