Incidental Mutation 'R2338:Zfyve9'
| ID |
246617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve9
|
| Ensembl Gene |
ENSMUSG00000034557 |
| Gene Name |
zinc finger, FYVE domain containing 9 |
| Synonyms |
Madhip |
| MMRRC Submission |
040324-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R2338 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108494663-108637995 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 108517811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 461
(D461E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042185]
[ENSMUST00000106657]
[ENSMUST00000106658]
|
| AlphaFold |
A2A8R0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042185
AA Change: D461E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
AA Change: D461E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FYVE
|
7 |
40 |
4e-7 |
BLAST |
|
Pfam:SARA
|
52 |
92 |
1e-25 |
PFAM |
|
Pfam:DUF3480
|
328 |
681 |
1.4e-189 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106657
AA Change: D1152E
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: D1152E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
230 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
587 |
N/A |
INTRINSIC |
|
Blast:FYVE
|
590 |
618 |
7e-6 |
BLAST |
|
FYVE
|
663 |
731 |
2.38e-26 |
SMART |
|
Pfam:SARA
|
745 |
783 |
1.3e-22 |
PFAM |
|
Pfam:DUF3480
|
1020 |
1372 |
1e-178 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106658
AA Change: D1093E
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: D1093E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
230 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
587 |
N/A |
INTRINSIC |
|
Blast:FYVE
|
590 |
618 |
8e-6 |
BLAST |
|
FYVE
|
663 |
731 |
2.38e-26 |
SMART |
|
Pfam:DUF3480
|
960 |
1313 |
5.5e-189 |
PFAM |
|
| Meta Mutation Damage Score |
0.0834 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,817,109 (GRCm39) |
D53G |
probably benign |
Het |
| A1cf |
C |
T |
19: 31,909,945 (GRCm39) |
P330S |
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,225,941 (GRCm39) |
|
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,658,440 (GRCm39) |
L1158S |
probably damaging |
Het |
| Cadps2 |
C |
G |
6: 23,838,977 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
C |
T |
8: 3,656,808 (GRCm39) |
R1048C |
probably damaging |
Het |
| Cdkl2 |
C |
T |
5: 92,181,538 (GRCm39) |
A148T |
possibly damaging |
Het |
| Dab2 |
T |
A |
15: 6,464,733 (GRCm39) |
I395K |
possibly damaging |
Het |
| Dclk2 |
A |
G |
3: 86,706,324 (GRCm39) |
F589S |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,465,470 (GRCm39) |
S1376P |
possibly damaging |
Het |
| Eprs1 |
T |
C |
1: 185,148,005 (GRCm39) |
F1256L |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,895,605 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,202,727 (GRCm39) |
T116A |
possibly damaging |
Het |
| Fem1al |
C |
A |
11: 29,773,718 (GRCm39) |
A580S |
probably benign |
Het |
| Fmnl3 |
T |
C |
15: 99,268,108 (GRCm39) |
T26A |
probably benign |
Het |
| Foxp1 |
A |
G |
6: 98,980,254 (GRCm39) |
V158A |
possibly damaging |
Het |
| G6pd2 |
T |
A |
5: 61,967,351 (GRCm39) |
D375E |
probably benign |
Het |
| Gne |
C |
T |
4: 44,042,196 (GRCm39) |
A460T |
probably damaging |
Het |
| Gprin1 |
T |
A |
13: 54,886,238 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
T |
C |
1: 53,943,581 (GRCm39) |
M949V |
possibly damaging |
Het |
| Herc1 |
G |
A |
9: 66,336,251 (GRCm39) |
V1599M |
possibly damaging |
Het |
| Hk2 |
A |
C |
6: 82,708,096 (GRCm39) |
N628K |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,498,685 (GRCm39) |
T4065A |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,691,321 (GRCm39) |
Q683L |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,361,217 (GRCm39) |
I121T |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,359,340 (GRCm39) |
L322P |
probably benign |
Het |
| Lilrb4a |
A |
G |
10: 51,367,796 (GRCm39) |
M113V |
probably benign |
Het |
| Mnat1 |
G |
A |
12: 73,265,917 (GRCm39) |
|
probably null |
Het |
| Mucl1 |
T |
A |
15: 103,783,964 (GRCm39) |
T68S |
possibly damaging |
Het |
| Npnt |
G |
T |
3: 132,597,170 (GRCm39) |
D461E |
probably damaging |
Het |
| Nrp1 |
A |
T |
8: 129,224,385 (GRCm39) |
Q716L |
probably benign |
Het |
| Or11g25 |
A |
G |
14: 50,723,097 (GRCm39) |
T61A |
possibly damaging |
Het |
| Or12k5 |
T |
G |
2: 36,895,159 (GRCm39) |
S156R |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,617 (GRCm39) |
I280N |
possibly damaging |
Het |
| Podxl2 |
T |
C |
6: 88,826,178 (GRCm39) |
Q376R |
probably damaging |
Het |
| Pudp |
T |
C |
18: 50,701,646 (GRCm39) |
D29G |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
T |
C |
13: 51,573,614 (GRCm39) |
I265T |
possibly damaging |
Het |
| Scgb1b2 |
A |
T |
7: 30,991,038 (GRCm39) |
C23* |
probably null |
Het |
| Spag8 |
G |
T |
4: 43,652,826 (GRCm39) |
R212S |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,335,299 (GRCm39) |
|
probably null |
Het |
| Trmt1l |
C |
T |
1: 151,304,710 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,954,469 (GRCm39) |
L810Q |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,292,059 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
T |
G |
6: 123,681,384 (GRCm39) |
I97M |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,590,051 (GRCm39) |
F622I |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,697,817 (GRCm39) |
G766E |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,946,495 (GRCm39) |
T553A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,114 (GRCm39) |
D1118E |
probably damaging |
Het |
|
| Other mutations in Zfyve9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Zfyve9
|
APN |
4 |
108,499,304 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01161:Zfyve9
|
APN |
4 |
108,538,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Zfyve9
|
APN |
4 |
108,539,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01451:Zfyve9
|
APN |
4 |
108,539,457 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01655:Zfyve9
|
APN |
4 |
108,499,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Zfyve9
|
APN |
4 |
108,531,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02593:Zfyve9
|
APN |
4 |
108,539,420 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03169:Zfyve9
|
APN |
4 |
108,553,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03206:Zfyve9
|
APN |
4 |
108,546,406 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03288:Zfyve9
|
APN |
4 |
108,580,996 (GRCm39) |
splice site |
probably benign |
|
|
R0008:Zfyve9
|
UTSW |
4 |
108,575,902 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0008:Zfyve9
|
UTSW |
4 |
108,575,902 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0104:Zfyve9
|
UTSW |
4 |
108,575,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0104:Zfyve9
|
UTSW |
4 |
108,575,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Zfyve9
|
UTSW |
4 |
108,538,166 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0502:Zfyve9
|
UTSW |
4 |
108,576,961 (GRCm39) |
nonsense |
probably null |
|
|
R0503:Zfyve9
|
UTSW |
4 |
108,576,961 (GRCm39) |
nonsense |
probably null |
|
|
R0557:Zfyve9
|
UTSW |
4 |
108,531,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0835:Zfyve9
|
UTSW |
4 |
108,575,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1215:Zfyve9
|
UTSW |
4 |
108,507,426 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1245:Zfyve9
|
UTSW |
4 |
108,550,508 (GRCm39) |
intron |
probably benign |
|
|
R1527:Zfyve9
|
UTSW |
4 |
108,552,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1638:Zfyve9
|
UTSW |
4 |
108,542,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1653:Zfyve9
|
UTSW |
4 |
108,517,774 (GRCm39) |
nonsense |
probably null |
|
|
R1728:Zfyve9
|
UTSW |
4 |
108,575,698 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1729:Zfyve9
|
UTSW |
4 |
108,575,698 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1861:Zfyve9
|
UTSW |
4 |
108,539,492 (GRCm39) |
splice site |
probably benign |
|
|
R1983:Zfyve9
|
UTSW |
4 |
108,546,386 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2050:Zfyve9
|
UTSW |
4 |
108,576,500 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2050:Zfyve9
|
UTSW |
4 |
108,575,800 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2246:Zfyve9
|
UTSW |
4 |
108,546,461 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2697:Zfyve9
|
UTSW |
4 |
108,553,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3522:Zfyve9
|
UTSW |
4 |
108,576,940 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4030:Zfyve9
|
UTSW |
4 |
108,576,898 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4247:Zfyve9
|
UTSW |
4 |
108,576,389 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4273:Zfyve9
|
UTSW |
4 |
108,538,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Zfyve9
|
UTSW |
4 |
108,501,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4835:Zfyve9
|
UTSW |
4 |
108,575,195 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4871:Zfyve9
|
UTSW |
4 |
108,538,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Zfyve9
|
UTSW |
4 |
108,584,688 (GRCm39) |
splice site |
probably null |
|
|
R4974:Zfyve9
|
UTSW |
4 |
108,538,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5024:Zfyve9
|
UTSW |
4 |
108,548,866 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5481:Zfyve9
|
UTSW |
4 |
108,501,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Zfyve9
|
UTSW |
4 |
108,576,365 (GRCm39) |
missense |
probably benign |
|
|
R5965:Zfyve9
|
UTSW |
4 |
108,548,878 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5996:Zfyve9
|
UTSW |
4 |
108,576,557 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6315:Zfyve9
|
UTSW |
4 |
108,531,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6772:Zfyve9
|
UTSW |
4 |
108,496,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6865:Zfyve9
|
UTSW |
4 |
108,501,558 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7112:Zfyve9
|
UTSW |
4 |
108,507,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7258:Zfyve9
|
UTSW |
4 |
108,514,151 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7266:Zfyve9
|
UTSW |
4 |
108,575,744 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7287:Zfyve9
|
UTSW |
4 |
108,575,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7356:Zfyve9
|
UTSW |
4 |
108,576,212 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7389:Zfyve9
|
UTSW |
4 |
108,550,515 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7729:Zfyve9
|
UTSW |
4 |
108,548,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7780:Zfyve9
|
UTSW |
4 |
108,576,298 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7801:Zfyve9
|
UTSW |
4 |
108,542,192 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8069:Zfyve9
|
UTSW |
4 |
108,542,215 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8201:Zfyve9
|
UTSW |
4 |
108,507,474 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8221:Zfyve9
|
UTSW |
4 |
108,576,877 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8682:Zfyve9
|
UTSW |
4 |
108,576,539 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8948:Zfyve9
|
UTSW |
4 |
108,499,288 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8960:Zfyve9
|
UTSW |
4 |
108,501,558 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9123:Zfyve9
|
UTSW |
4 |
108,575,760 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9135:Zfyve9
|
UTSW |
4 |
108,539,386 (GRCm39) |
nonsense |
probably null |
|
|
R9439:Zfyve9
|
UTSW |
4 |
108,501,538 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9449:Zfyve9
|
UTSW |
4 |
108,576,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:Zfyve9
|
UTSW |
4 |
108,575,334 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9603:Zfyve9
|
UTSW |
4 |
108,499,288 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9657:Zfyve9
|
UTSW |
4 |
108,575,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9691:Zfyve9
|
UTSW |
4 |
108,576,305 (GRCm39) |
missense |
probably benign |
|
|
R9717:Zfyve9
|
UTSW |
4 |
108,539,334 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1176:Zfyve9
|
UTSW |
4 |
108,499,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGGTAGAGATCTGAGACATCC -3'
(R):5'- GTCTAAATTGCATAGGGAACTTTGG -3'
Sequencing Primer
(F):5'- AATTCCAGGTCAGCTGGTAGTAC -3'
(R):5'- ACTAACTGTGACTGACTTTTTGTC -3'
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| Posted On |
2014-10-30 |
Incidental Mutation