Incidental Mutation 'R5201:Fzr1'
| ID |
400807 |
| 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 |
042776-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5201 (G1)
|
| Quality Score |
158 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81202713-81214204 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81203362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 399
(L399H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112868
(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
|
| SMART Domains |
Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235
| 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 damaging
Transcript: ENSMUST00000118812
AA Change: L399H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235
AA Change: L399H
| 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 |
noncoding transcript
Transcript: ENSMUST00000138343
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140901
AA Change: L488H
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235
AA Change: L488H
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
A |
15: 81,946,745 (GRCm39) |
T214N |
probably benign |
Het |
| Actn4 |
A |
T |
7: 28,615,680 (GRCm39) |
|
probably null |
Het |
| Arap2 |
T |
C |
5: 62,840,832 (GRCm39) |
E678G |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,580 (GRCm39) |
N130S |
probably benign |
Het |
| Cby2 |
A |
G |
14: 75,821,449 (GRCm39) |
V101A |
probably damaging |
Het |
| Cyp2b10 |
A |
G |
7: 25,616,419 (GRCm39) |
D342G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,715 (GRCm39) |
Y248H |
possibly damaging |
Het |
| Drd5 |
A |
T |
5: 38,477,366 (GRCm39) |
M120L |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,158,403 (GRCm39) |
R629G |
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,884,521 (GRCm39) |
Y279C |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,864,590 (GRCm39) |
I215L |
probably benign |
Het |
| Enpp6 |
C |
A |
8: 47,518,486 (GRCm39) |
Q205K |
probably damaging |
Het |
| Fam170a |
A |
T |
18: 50,415,193 (GRCm39) |
T280S |
probably benign |
Het |
| Fam222a |
G |
A |
5: 114,749,127 (GRCm39) |
A108T |
possibly damaging |
Het |
| Fgd3 |
G |
T |
13: 49,449,854 (GRCm39) |
P132T |
probably benign |
Het |
| Galnt15 |
G |
A |
14: 31,771,822 (GRCm39) |
R289Q |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,770,865 (GRCm39) |
V834A |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,300,679 (GRCm39) |
L93P |
probably damaging |
Het |
| Itgae |
G |
A |
11: 73,001,382 (GRCm39) |
R71Q |
probably benign |
Het |
| Itprid1 |
T |
C |
6: 55,944,991 (GRCm39) |
S571P |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,431,145 (GRCm39) |
S1181T |
probably benign |
Het |
| Lrig3 |
C |
A |
10: 125,849,020 (GRCm39) |
P946Q |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,738 (GRCm39) |
C1674* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,609,126 (GRCm39) |
K710R |
probably benign |
Het |
| Man1a2 |
A |
T |
3: 100,524,328 (GRCm39) |
N373K |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,847 (GRCm39) |
N32S |
possibly damaging |
Het |
| Mrtfb |
A |
C |
16: 13,219,456 (GRCm39) |
T701P |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,674,021 (GRCm39) |
T652S |
probably damaging |
Het |
| Nfia |
A |
G |
4: 97,999,462 (GRCm39) |
Y485C |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,496,433 (GRCm39) |
T355S |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,847,995 (GRCm39) |
I195K |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,331,971 (GRCm39) |
V344D |
probably damaging |
Het |
| Plekhn1 |
C |
A |
4: 156,314,984 (GRCm39) |
V558L |
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,987,591 (GRCm39) |
S635P |
possibly damaging |
Het |
| Prss46 |
T |
A |
9: 110,680,543 (GRCm39) |
C229* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,589,647 (GRCm39) |
|
probably null |
Het |
| Slc27a3 |
A |
T |
3: 90,296,526 (GRCm39) |
L191Q |
probably benign |
Het |
| Surf4 |
A |
G |
2: 26,823,778 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
A |
G |
2: 9,956,995 (GRCm39) |
S391P |
probably damaging |
Het |
| Tep1 |
A |
C |
14: 51,105,567 (GRCm39) |
L151R |
probably benign |
Het |
| Tmprss11d |
A |
C |
5: 86,457,214 (GRCm39) |
N148K |
possibly damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,846 (GRCm39) |
D724G |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,862,519 (GRCm39) |
D779E |
probably benign |
Het |
| Zfp943 |
A |
T |
17: 22,211,794 (GRCm39) |
K293N |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACAGCTCACAATGAGGC -3'
(R):5'- GAAATAGCCAGGTCCTTCTGCC -3'
Sequencing Primer
(F):5'- CAATGAGGCATTTAATGAGACTCTGG -3'
(R):5'- TATAGGCCATGTCCCCTGATGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation