Incidental Mutation 'R8034:Fuz'
| ID |
618131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fuz
|
| Ensembl Gene |
ENSMUSG00000011658 |
| Gene Name |
fuzzy planar cell polarity protein |
| Synonyms |
2600013E07Rik, b2b1273Clo |
| MMRRC Submission |
067471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R8034 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44545517-44552053 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 44545684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003049]
[ENSMUST00000071207]
[ENSMUST00000085399]
[ENSMUST00000107857]
[ENSMUST00000166972]
[ENSMUST00000167930]
[ENSMUST00000207069]
[ENSMUST00000207939]
[ENSMUST00000207154]
[ENSMUST00000207278]
[ENSMUST00000207485]
[ENSMUST00000207654]
[ENSMUST00000207788]
[ENSMUST00000208179]
[ENSMUST00000208253]
[ENSMUST00000208551]
[ENSMUST00000208556]
[ENSMUST00000208600]
[ENSMUST00000209039]
[ENSMUST00000209132]
[ENSMUST00000209163]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003049
|
| SMART Domains |
Protein: ENSMUSP00000003049
Gene: ENSMUSG00000002968
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
15 |
178 |
6.55e0 |
SMART |
|
low complexity region
|
193 |
211 |
N/A |
INTRINSIC |
|
Pfam:Med25_SD1
|
228 |
383 |
5.8e-55 |
PFAM |
|
Pfam:Med25
|
396 |
546 |
3.9e-64 |
PFAM |
|
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
632 |
N/A |
INTRINSIC |
|
Pfam:Med25_NR-box
|
657 |
745 |
5.3e-43 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000071207
|
| SMART Domains |
Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
234 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085399
|
| SMART Domains |
Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
29 |
591 |
7.5e-150 |
PFAM |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
741 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
745 |
858 |
4.49e-23 |
SMART |
|
Pfam:Alpha_adaptin_C
|
864 |
972 |
9.4e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107857
|
| SMART Domains |
Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
29 |
591 |
7e-150 |
PFAM |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
723 |
836 |
4.49e-23 |
SMART |
|
Pfam:Alpha_adaptin_C
|
842 |
950 |
9.1e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166972
|
| SMART Domains |
Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
29 |
591 |
2e-149 |
PFAM |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
741 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
745 |
858 |
4.49e-23 |
SMART |
|
Pfam:Alpha_adaptin_C
|
864 |
972 |
5.4e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167930
|
| SMART Domains |
Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
29 |
591 |
7e-150 |
PFAM |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
723 |
836 |
4.49e-23 |
SMART |
|
Pfam:Alpha_adaptin_C
|
842 |
950 |
9.1e-46 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000207069
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207939
AA Change: M1T
|
| Predicted Effect |
silent
Transcript: ENSMUST00000207154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207278
|
| Predicted Effect |
silent
Transcript: ENSMUST00000207485
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207788
|
| Predicted Effect |
silent
Transcript: ENSMUST00000208179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208253
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208556
|
| Predicted Effect |
silent
Transcript: ENSMUST00000208600
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208908
|
| Predicted Effect |
silent
Transcript: ENSMUST00000209039
|
| Predicted Effect |
silent
Transcript: ENSMUST00000209132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209163
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit neural tube closure defects, abnormal craniofacial morphology, abnormal skeletal morphology, polydactyly, anopthalmia, pulmonary hopyplasia, and cardiac outflow tract defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
A |
G |
7: 101,043,980 (GRCm39) |
T680A |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,031,554 (GRCm39) |
Y391* |
probably null |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
A |
G |
16: 44,943,238 (GRCm39) |
I783V |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,450,805 (GRCm39) |
V391A |
probably damaging |
Het |
| Cd5l |
C |
A |
3: 87,273,271 (GRCm39) |
A80E |
possibly damaging |
Het |
| Chmp2b |
A |
T |
16: 65,343,769 (GRCm39) |
M96K |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,479,045 (GRCm39) |
I1530F |
|
Het |
| Dennd4a |
T |
C |
9: 64,795,850 (GRCm39) |
S725P |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,106,208 (GRCm39) |
N1843S |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,449,281 (GRCm39) |
F41L |
probably benign |
Het |
| Eif3e |
A |
T |
15: 43,135,703 (GRCm39) |
M112K |
probably benign |
Het |
| Faim |
T |
C |
9: 98,874,786 (GRCm39) |
V111A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,404,728 (GRCm39) |
E493G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,819,699 (GRCm39) |
D5144G |
possibly damaging |
Het |
| Ggcx |
T |
C |
6: 72,405,587 (GRCm39) |
V529A |
possibly damaging |
Het |
| Gm7145 |
A |
T |
1: 117,913,894 (GRCm39) |
T259S |
probably benign |
Het |
| Gria2 |
T |
G |
3: 80,709,006 (GRCm39) |
T59P |
probably damaging |
Het |
| H2-Q10 |
A |
T |
17: 35,781,338 (GRCm39) |
I47F |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,644,735 (GRCm39) |
N63D |
probably benign |
Het |
| Ints7 |
CCGGATCG |
CCGGATCGGATCG |
1: 191,345,180 (GRCm39) |
|
probably null |
Het |
| Ints7 |
GATCG |
GATCGTATCG |
1: 191,345,183 (GRCm39) |
|
probably null |
Het |
| Lcn6 |
T |
A |
2: 25,566,883 (GRCm39) |
L19* |
probably null |
Het |
| Lhcgr |
T |
C |
17: 89,049,784 (GRCm39) |
T581A |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,687,573 (GRCm39) |
I203T |
probably damaging |
Het |
| Mctp1 |
G |
C |
13: 77,039,670 (GRCm39) |
L783F |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,291,921 (GRCm39) |
M29L |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 53,687,312 (GRCm39) |
I159N |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,794,930 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
A |
G |
2: 89,237,081 (GRCm39) |
V114A |
probably benign |
Het |
| Or4m1 |
T |
C |
14: 50,558,023 (GRCm39) |
K90E |
probably damaging |
Het |
| Or51h5 |
A |
T |
7: 102,577,773 (GRCm39) |
K313* |
probably null |
Het |
| Or5b110-ps1 |
A |
G |
19: 13,260,215 (GRCm39) |
F69S |
probably damaging |
Het |
| Or7d11 |
A |
G |
9: 19,966,301 (GRCm39) |
F35L |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,054,973 (GRCm39) |
Y176H |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,623,111 (GRCm39) |
S377G |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,571,214 (GRCm39) |
S200T |
probably damaging |
Het |
| Pex6 |
G |
C |
17: 47,033,325 (GRCm39) |
G616A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,451,662 (GRCm39) |
H2211L |
possibly damaging |
Het |
| Sec13 |
T |
C |
6: 113,712,050 (GRCm39) |
K95R |
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,932,480 (GRCm39) |
V661A |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
| Sp140l2 |
T |
A |
1: 85,231,881 (GRCm39) |
T180S |
probably benign |
Het |
| Sprr2h |
A |
T |
3: 92,294,120 (GRCm39) |
E61V |
unknown |
Het |
| Tead3 |
A |
C |
17: 28,552,203 (GRCm39) |
V365G |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,688,119 (GRCm39) |
N236I |
probably damaging |
Het |
| Ubxn2b |
A |
G |
4: 6,191,167 (GRCm39) |
E13G |
probably benign |
Het |
| Zfp639 |
C |
A |
3: 32,574,215 (GRCm39) |
A280E |
probably damaging |
Het |
|
| Other mutations in Fuz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01918:Fuz
|
APN |
7 |
44,546,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Fuz
|
UTSW |
7 |
44,548,446 (GRCm39) |
splice site |
probably null |
|
|
R0586:Fuz
|
UTSW |
7 |
44,547,982 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1028:Fuz
|
UTSW |
7 |
44,546,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1720:Fuz
|
UTSW |
7 |
44,546,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Fuz
|
UTSW |
7 |
44,549,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Fuz
|
UTSW |
7 |
44,545,701 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5870:Fuz
|
UTSW |
7 |
44,549,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Fuz
|
UTSW |
7 |
44,546,755 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7440:Fuz
|
UTSW |
7 |
44,545,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Fuz
|
UTSW |
7 |
44,548,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Fuz
|
UTSW |
7 |
44,546,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Fuz
|
UTSW |
7 |
44,549,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAATCCTGTTGGAGGGGC -3'
(R):5'- AAAGTTCTTCAGGAAACCAGGC -3'
Sequencing Primer
(F):5'- CTGAGTTGATGAAGGCAGGAATTTAG -3'
(R):5'- AGGCTTATTAGTCCCCTAAAGGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation