Incidental Mutation 'R5663:Fzr1'
ID |
444212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fzr1
|
Ensembl Gene |
ENSMUSG00000020235 |
Gene Name |
fizzy and cell division cycle 20 related 1 |
Synonyms |
Fyr, Cdh1 |
MMRRC Submission |
043306-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5663 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
81202713-81214204 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81206360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 137
(S137P)
|
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: S137P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000020457 Gene: ENSMUSG00000020235 AA Change: S137P
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
|
SMART Domains |
Protein: ENSMUSP00000112868 Gene: ENSMUSG00000020235
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: ENSMUST00000127203
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130762
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138343
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140901
AA Change: S137P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000114203 Gene: ENSMUSG00000020235 AA Change: S137P
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: ENSMUST00000150824
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
T |
C |
5: 50,156,627 (GRCm39) |
N368D |
probably benign |
Het |
Agfg1 |
T |
A |
1: 82,871,173 (GRCm39) |
S444R |
probably damaging |
Het |
Arhgap44 |
A |
T |
11: 64,915,117 (GRCm39) |
F384I |
probably damaging |
Het |
Atp8b2 |
T |
C |
3: 89,849,101 (GRCm39) |
N1078D |
probably benign |
Het |
Bcan |
G |
A |
3: 87,902,920 (GRCm39) |
T286I |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,845,297 (GRCm39) |
L624P |
probably damaging |
Het |
Ccn5 |
G |
A |
2: 163,667,173 (GRCm39) |
R58Q |
probably damaging |
Het |
Cimip1 |
C |
T |
2: 173,369,690 (GRCm39) |
P68L |
probably damaging |
Het |
Dnah7c |
C |
A |
1: 46,574,308 (GRCm39) |
F994L |
probably damaging |
Het |
Dpp6 |
A |
G |
5: 27,254,620 (GRCm39) |
I12V |
possibly damaging |
Het |
Edil3 |
A |
G |
13: 89,190,627 (GRCm39) |
I101M |
probably damaging |
Het |
Elapor1 |
T |
C |
3: 108,399,399 (GRCm39) |
T64A |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,497,735 (GRCm39) |
V255A |
probably damaging |
Het |
Fhip1a |
T |
C |
3: 85,579,740 (GRCm39) |
T822A |
probably benign |
Het |
H2-Eb2 |
T |
C |
17: 34,552,382 (GRCm39) |
F76L |
possibly damaging |
Het |
Helb |
A |
G |
10: 119,941,698 (GRCm39) |
I330T |
possibly damaging |
Het |
Il18rap |
T |
A |
1: 40,570,717 (GRCm39) |
C220S |
probably damaging |
Het |
Kdm4c |
T |
C |
4: 74,317,585 (GRCm39) |
V966A |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,558,373 (GRCm39) |
V1460A |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,820,916 (GRCm39) |
|
probably null |
Het |
Liat1 |
A |
G |
11: 75,891,047 (GRCm39) |
K54E |
probably damaging |
Het |
Lrrc37 |
A |
G |
11: 103,503,949 (GRCm39) |
V497A |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,271,688 (GRCm39) |
E621G |
possibly damaging |
Het |
Mier1 |
T |
A |
4: 103,007,739 (GRCm39) |
S285T |
probably damaging |
Het |
Mroh6 |
A |
G |
15: 75,760,437 (GRCm39) |
S46P |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,472,155 (GRCm39) |
Q395L |
probably damaging |
Het |
Ndufb5 |
T |
C |
3: 32,801,898 (GRCm39) |
I86T |
possibly damaging |
Het |
Nelfb |
T |
A |
2: 25,093,501 (GRCm39) |
E417V |
probably benign |
Het |
Nfkb1 |
T |
G |
3: 135,309,612 (GRCm39) |
D494A |
possibly damaging |
Het |
Nid1 |
G |
A |
13: 13,647,419 (GRCm39) |
C395Y |
probably damaging |
Het |
Nr4a3 |
G |
T |
4: 48,055,931 (GRCm39) |
R319I |
probably damaging |
Het |
Or2ag13 |
T |
A |
7: 106,472,877 (GRCm39) |
T192S |
probably benign |
Het |
Or4e1 |
A |
T |
14: 52,701,052 (GRCm39) |
I138K |
probably benign |
Het |
Or6f2 |
G |
A |
7: 139,756,234 (GRCm39) |
C67Y |
probably damaging |
Het |
Paqr5 |
A |
G |
9: 61,876,144 (GRCm39) |
V130A |
probably benign |
Het |
Phlpp2 |
G |
A |
8: 110,630,976 (GRCm39) |
V207I |
probably benign |
Het |
Pik3ca |
C |
T |
3: 32,516,928 (GRCm39) |
T1052M |
probably damaging |
Het |
Pikfyve |
T |
C |
1: 65,255,187 (GRCm39) |
Y347H |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,035,142 (GRCm39) |
H1964R |
probably damaging |
Het |
Rassf7 |
C |
T |
7: 140,797,003 (GRCm39) |
T72I |
probably damaging |
Het |
Rfx3 |
A |
G |
19: 27,771,017 (GRCm39) |
F603S |
probably damaging |
Het |
Slc27a4 |
T |
A |
2: 29,702,382 (GRCm39) |
V477D |
probably damaging |
Het |
Slc9a3 |
A |
C |
13: 74,311,831 (GRCm39) |
D593A |
probably damaging |
Het |
Smyd1 |
A |
G |
6: 71,216,705 (GRCm39) |
I14T |
probably benign |
Het |
Sox6 |
T |
A |
7: 115,149,289 (GRCm39) |
I404L |
probably benign |
Het |
Tas2r121 |
G |
A |
6: 132,677,520 (GRCm39) |
H151Y |
probably benign |
Het |
Tgfb1 |
C |
T |
7: 25,393,706 (GRCm39) |
T192M |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
Whrn |
T |
A |
4: 63,336,685 (GRCm39) |
N626Y |
probably damaging |
Het |
Xrra1 |
T |
A |
7: 99,535,250 (GRCm39) |
I185N |
probably damaging |
Het |
Zfp94 |
G |
A |
7: 24,002,252 (GRCm39) |
R397W |
probably damaging |
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 |
IGL03327:Fzr1
|
APN |
10 |
81,205,018 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTTGAAGGGAATCTTAGAGATC -3'
(R):5'- AGAGCACAAGGGGCTCTTTAC -3'
Sequencing Primer
(F):5'- AGGGAATCTTAGAGATCTTGCG -3'
(R):5'- CTCTTTACGGTGAGCCAGG -3'
|
Posted On |
2016-11-09 |