Incidental Mutation 'R3522:Zfyve9'
| ID |
267527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve9
|
| Ensembl Gene |
ENSMUSG00000034557 |
| Gene Name |
zinc finger, FYVE domain containing 9 |
| Synonyms |
Madhip |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R3522 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108494663-108637995 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108576940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 47
(L47S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042185]
[ENSMUST00000106657]
[ENSMUST00000106658]
[ENSMUST00000178992]
|
| AlphaFold |
A2A8R0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042185
|
| SMART Domains |
Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
| 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 |
probably benign
Transcript: ENSMUST00000106657
AA Change: L47S
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: L47S
| 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 |
probably benign
Transcript: ENSMUST00000106658
AA Change: L47S
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: L47S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178992
|
| SMART Domains |
Protein: ENSMUSP00000136370
Gene: ENSMUSG00000094958
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
148 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (72/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
G |
3: 96,592,378 (GRCm39) |
E888G |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,004,918 (GRCm39) |
F150S |
probably damaging |
Het |
| Atp10d |
G |
T |
5: 72,396,500 (GRCm39) |
R235L |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,653,055 (GRCm39) |
V2A |
possibly damaging |
Het |
| Cand1 |
A |
T |
10: 119,075,102 (GRCm39) |
L15Q |
probably benign |
Het |
| Cavin3 |
C |
A |
7: 105,130,350 (GRCm39) |
G154V |
probably benign |
Het |
| Ccdc73 |
A |
T |
2: 104,821,830 (GRCm39) |
D593V |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,168,647 (GRCm39) |
K161E |
probably damaging |
Het |
| Chil4 |
A |
T |
3: 106,111,056 (GRCm39) |
N279K |
probably benign |
Het |
| Chst13 |
T |
G |
6: 90,295,245 (GRCm39) |
D56A |
probably damaging |
Het |
| Cnn1 |
C |
A |
9: 22,010,664 (GRCm39) |
H5N |
probably benign |
Het |
| Cpsf4l |
T |
A |
11: 113,593,319 (GRCm39) |
K88N |
probably damaging |
Het |
| Ctnnbl1 |
G |
T |
2: 157,713,113 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
C |
1: 53,657,275 (GRCm39) |
F834V |
probably damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,461,163 (GRCm39) |
S182P |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,634,970 (GRCm39) |
T180A |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,334 (GRCm39) |
I2082N |
unknown |
Het |
| Gm4968 |
A |
G |
6: 127,210,725 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 116,761,747 (GRCm39) |
H612Q |
probably benign |
Het |
| Gsg1 |
A |
T |
6: 135,218,251 (GRCm39) |
V212D |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,651,430 (GRCm39) |
V1111A |
probably damaging |
Het |
| Hormad1 |
A |
T |
3: 95,483,596 (GRCm39) |
Q136L |
probably benign |
Het |
| Ifi35 |
T |
A |
11: 101,348,511 (GRCm39) |
S147R |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,754,624 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
C |
T |
3: 87,998,089 (GRCm39) |
A282V |
probably null |
Het |
| Jmy |
T |
C |
13: 93,590,558 (GRCm39) |
D515G |
probably damaging |
Het |
| Kctd10 |
G |
A |
5: 114,512,984 (GRCm39) |
R64C |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,040,757 (GRCm39) |
V121A |
probably damaging |
Het |
| Lcn3 |
G |
A |
2: 25,656,133 (GRCm39) |
V63M |
possibly damaging |
Het |
| Lmx1b |
T |
A |
2: 33,529,543 (GRCm39) |
Y72F |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,389,424 (GRCm39) |
D3164G |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,758,927 (GRCm39) |
V222M |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,958,702 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
C |
A |
18: 32,143,132 (GRCm39) |
V189F |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,250,355 (GRCm39) |
S533P |
probably damaging |
Het |
| Ndrg3 |
T |
C |
2: 156,785,947 (GRCm39) |
D164G |
probably damaging |
Het |
| Nol11 |
C |
T |
11: 107,064,454 (GRCm39) |
C500Y |
possibly damaging |
Het |
| Nsd3 |
A |
G |
8: 26,196,642 (GRCm39) |
N1208D |
probably benign |
Het |
| Nup155 |
C |
T |
15: 8,186,162 (GRCm39) |
|
probably benign |
Het |
| Or5ak20 |
A |
T |
2: 85,183,347 (GRCm39) |
C308S |
probably benign |
Het |
| Or6c38 |
A |
G |
10: 128,929,711 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or8b47 |
A |
G |
9: 38,435,081 (GRCm39) |
T18A |
probably damaging |
Het |
| Or8b54 |
A |
T |
9: 38,687,016 (GRCm39) |
D155V |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,844,684 (GRCm39) |
L1425P |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,279,250 (GRCm39) |
Y777H |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,085,396 (GRCm39) |
E184G |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,314,335 (GRCm39) |
|
probably null |
Het |
| Ptgfrn |
T |
C |
3: 100,950,718 (GRCm39) |
E865G |
probably damaging |
Het |
| Ptpn13 |
G |
T |
5: 103,737,720 (GRCm39) |
|
probably benign |
Het |
| Pygb |
G |
T |
2: 150,670,473 (GRCm39) |
V763F |
probably benign |
Het |
| Ros1 |
A |
C |
10: 51,967,091 (GRCm39) |
Y1705* |
probably null |
Het |
| Sec61a2 |
A |
G |
2: 5,898,027 (GRCm39) |
F5L |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,614,102 (GRCm39) |
|
probably null |
Het |
| Sntg2 |
A |
G |
12: 30,362,566 (GRCm39) |
V60A |
probably damaging |
Het |
| Sppl2a |
A |
G |
2: 126,762,242 (GRCm39) |
C280R |
possibly damaging |
Het |
| Srrm4 |
A |
C |
5: 116,584,603 (GRCm39) |
M1R |
probably null |
Het |
| Sult1c2 |
T |
C |
17: 54,279,043 (GRCm39) |
E91G |
probably damaging |
Het |
| Themis2 |
C |
G |
4: 132,512,906 (GRCm39) |
R440P |
probably damaging |
Het |
| Tmem229a |
A |
G |
6: 24,955,058 (GRCm39) |
L232P |
probably benign |
Het |
| Trappc1 |
T |
C |
11: 69,215,248 (GRCm39) |
F43L |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,951,708 (GRCm39) |
Y982N |
possibly damaging |
Het |
| Trpv6 |
A |
T |
6: 41,604,339 (GRCm39) |
M139K |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,640,057 (GRCm39) |
|
probably null |
Het |
| Vmn1r184 |
T |
A |
7: 25,967,008 (GRCm39) |
Y251* |
probably null |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,544 (GRCm39) |
N76D |
possibly damaging |
Het |
| Vmn1r71 |
C |
A |
7: 10,481,792 (GRCm39) |
V233F |
probably benign |
Het |
| Vps13a |
A |
C |
19: 16,743,857 (GRCm39) |
|
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,420,358 (GRCm39) |
S756G |
probably damaging |
Het |
| Wdr36 |
T |
A |
18: 32,994,538 (GRCm39) |
|
probably null |
Het |
| Wdr86 |
A |
G |
5: 24,923,305 (GRCm39) |
V129A |
probably benign |
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 |
|
R2338:Zfyve9
|
UTSW |
4 |
108,517,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Zfyve9
|
UTSW |
4 |
108,553,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CGGCACTAAATTGATCATCCTG -3'
(R):5'- CATTTTCTTCAAAGCACAGCTGG -3'
Sequencing Primer
(F):5'- CAGCATTTTCATCAATCCACATGGTG -3'
(R):5'- CCTTCAGATGAAACAGTTTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation