Incidental Mutation 'IGL03327:Fzr1'
| ID |
416693 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fzr1
|
| Ensembl Gene |
ENSMUSG00000020235 |
| Gene Name |
fizzy and cell division cycle 20 related 1 |
| Synonyms |
Fyr, Cdh1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81202713-81214204 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81205018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 300
(T300A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020456]
[ENSMUST00000020457]
[ENSMUST00000044844]
[ENSMUST00000118812]
[ENSMUST00000140901]
|
| AlphaFold |
Q9R1K5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020456
|
| SMART Domains |
Protein: ENSMUSP00000020456
Gene: ENSMUSG00000020234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4531
|
23 |
204 |
1.3e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020457
AA Change: T300A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235
AA Change: T300A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
172 |
213 |
8e-21 |
BLAST |
|
WD40
|
218 |
257 |
1.2e-2 |
SMART |
|
WD40
|
260 |
297 |
6.79e-2 |
SMART |
|
WD40
|
302 |
341 |
3.55e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044844
|
| SMART Domains |
Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:MFS_2
|
20 |
423 |
5.2e-43 |
PFAM |
|
Pfam:MFS_1
|
154 |
416 |
6.8e-12 |
PFAM |
|
transmembrane domain
|
441 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118812
AA Change: T211A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235
AA Change: T211A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
129 |
168 |
5.6e-3 |
SMART |
|
WD40
|
171 |
208 |
6.79e-2 |
SMART |
|
WD40
|
213 |
252 |
3.99e-8 |
SMART |
|
WD40
|
255 |
297 |
2.84e-4 |
SMART |
|
WD40
|
300 |
340 |
1.98e1 |
SMART |
|
WD40
|
343 |
382 |
1.11e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131736
|
| SMART Domains |
Protein: ENSMUSP00000123068
Gene: ENSMUSG00000020234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4531
|
1 |
128 |
2.6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140901
AA Change: T300A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235
AA Change: T300A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
172 |
213 |
1e-19 |
BLAST |
|
WD40
|
218 |
257 |
1.2e-2 |
SMART |
|
WD40
|
260 |
297 |
6.79e-2 |
SMART |
|
WD40
|
302 |
341 |
3.99e-8 |
SMART |
|
WD40
|
344 |
386 |
2.84e-4 |
SMART |
|
WD40
|
389 |
429 |
1.98e1 |
SMART |
|
WD40
|
432 |
471 |
1.11e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150824
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mutants die embryonically at around E9.5-E12.5 with poorly developed placentae, no placental giant cells and/or erythroblast deficiency. Homozygous MEFs undergo premature senescence. Heterozygotes exhibit learning/memory defects and/or elevatedspontaneous epithelial tumor incidence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,792,116 (GRCm39) |
Y280C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,465,854 (GRCm39) |
T1647A |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,527,523 (GRCm39) |
I562V |
possibly damaging |
Het |
| Ash1l |
C |
T |
3: 88,930,390 (GRCm39) |
P1956S |
probably benign |
Het |
| Ccdc9b |
T |
C |
2: 118,592,151 (GRCm39) |
N79S |
probably damaging |
Het |
| Cd160 |
C |
T |
3: 96,712,849 (GRCm39) |
|
probably null |
Het |
| Chd3 |
G |
T |
11: 69,241,012 (GRCm39) |
A1527E |
probably damaging |
Het |
| Clcn1 |
C |
T |
6: 42,288,153 (GRCm39) |
T797I |
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 65,035,582 (GRCm39) |
Q44* |
probably null |
Het |
| Cntnap4 |
A |
G |
8: 113,500,208 (GRCm39) |
D500G |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,644,433 (GRCm39) |
D1285G |
possibly damaging |
Het |
| Cr2 |
A |
T |
1: 194,852,067 (GRCm39) |
V94E |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,735,823 (GRCm39) |
S924P |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,772 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
A |
C |
8: 45,403,505 (GRCm39) |
K85N |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,425,388 (GRCm39) |
E69G |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,173,735 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,420 (GRCm39) |
T142A |
possibly damaging |
Het |
| Hibch |
G |
A |
1: 52,959,539 (GRCm39) |
|
probably benign |
Het |
| Hmmr |
A |
G |
11: 40,606,242 (GRCm39) |
C243R |
probably damaging |
Het |
| Il25 |
T |
C |
14: 55,172,817 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
G |
A |
18: 6,222,767 (GRCm39) |
R355W |
probably damaging |
Het |
| Kifc3 |
C |
T |
8: 95,835,060 (GRCm39) |
D242N |
probably damaging |
Het |
| Lig1 |
T |
G |
7: 13,037,781 (GRCm39) |
I677S |
probably damaging |
Het |
| Lrig1 |
G |
T |
6: 94,583,104 (GRCm39) |
A1004E |
probably benign |
Het |
| Nras |
A |
G |
3: 102,966,340 (GRCm39) |
T35A |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,424,861 (GRCm39) |
Q136* |
probably null |
Het |
| Or4f54 |
A |
T |
2: 111,122,807 (GRCm39) |
N65Y |
probably damaging |
Het |
| Or6c217 |
T |
G |
10: 129,738,451 (GRCm39) |
I43L |
possibly damaging |
Het |
| Or8k1 |
C |
T |
2: 86,047,618 (GRCm39) |
W145* |
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,932,420 (GRCm39) |
F1080L |
probably benign |
Het |
| Plpp2 |
T |
C |
10: 79,366,818 (GRCm39) |
|
probably null |
Het |
| Ptpre |
G |
A |
7: 135,274,551 (GRCm39) |
|
probably null |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Sh3bp4 |
C |
A |
1: 89,071,885 (GRCm39) |
Y244* |
probably null |
Het |
| Trip11 |
A |
T |
12: 101,849,677 (GRCm39) |
N1462K |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,068,192 (GRCm39) |
D278G |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,518,984 (GRCm39) |
T694A |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,028,694 (GRCm39) |
|
probably benign |
Het |
| Xdh |
T |
C |
17: 74,223,787 (GRCm39) |
E535G |
probably benign |
Het |
|
| Other mutations in Fzr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Fzr1
|
APN |
10 |
81,206,359 (GRCm39) |
nonsense |
probably null |
|
|
IGL02541:Fzr1
|
APN |
10 |
81,205,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03346:Fzr1
|
APN |
10 |
81,205,018 (GRCm39) |
missense |
probably benign |
0.05 |
|
PIT4445001:Fzr1
|
UTSW |
10 |
81,205,228 (GRCm39) |
nonsense |
probably null |
|
|
R0179:Fzr1
|
UTSW |
10 |
81,204,904 (GRCm39) |
splice site |
probably benign |
|
|
R0403:Fzr1
|
UTSW |
10 |
81,205,202 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1591:Fzr1
|
UTSW |
10 |
81,206,201 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1987:Fzr1
|
UTSW |
10 |
81,206,153 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2358:Fzr1
|
UTSW |
10 |
81,203,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2844:Fzr1
|
UTSW |
10 |
81,205,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Fzr1
|
UTSW |
10 |
81,203,386 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5054:Fzr1
|
UTSW |
10 |
81,207,253 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5108:Fzr1
|
UTSW |
10 |
81,205,284 (GRCm39) |
splice site |
probably benign |
|
|
R5201:Fzr1
|
UTSW |
10 |
81,203,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5494:Fzr1
|
UTSW |
10 |
81,207,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5663:Fzr1
|
UTSW |
10 |
81,206,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5733:Fzr1
|
UTSW |
10 |
81,206,160 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5997:Fzr1
|
UTSW |
10 |
81,206,660 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6777:Fzr1
|
UTSW |
10 |
81,206,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7055:Fzr1
|
UTSW |
10 |
81,206,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Fzr1
|
UTSW |
10 |
81,204,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Fzr1
|
UTSW |
10 |
81,204,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8374:Fzr1
|
UTSW |
10 |
81,203,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Fzr1
|
UTSW |
10 |
81,206,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9149:Fzr1
|
UTSW |
10 |
81,205,249 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2016-08-02 |
Incidental Mutation