Incidental Mutation 'R9065:Fuz'
| ID |
689201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fuz
|
| Ensembl Gene |
ENSMUSG00000011658 |
| Gene Name |
fuzzy planar cell polarity protein |
| Synonyms |
2600013E07Rik, b2b1273Clo |
| MMRRC Submission |
068890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R9065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44545517-44552053 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44546721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 119
(R119W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003049]
[ENSMUST00000071207]
[ENSMUST00000085399]
[ENSMUST00000107857]
[ENSMUST00000166972]
[ENSMUST00000167930]
[ENSMUST00000207069]
[ENSMUST00000207154]
[ENSMUST00000207278]
[ENSMUST00000207485]
[ENSMUST00000207654]
[ENSMUST00000207788]
[ENSMUST00000207939]
[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 |
probably damaging
Transcript: ENSMUST00000071207
AA Change: R119W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658
AA Change: R119W
| 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 |
probably damaging
Transcript: ENSMUST00000207069
AA Change: R50W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207278
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207485
AA Change: R83W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207788
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208179
AA Change: R119W
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| 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 |
probably damaging
Transcript: ENSMUST00000208600
AA Change: R119W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208908
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209039
AA Change: R119W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209132
AA Change: R119W
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209163
AA Change: R1W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,323,084 (GRCm39) |
N1472S |
probably benign |
Het |
| 4930447C04Rik |
C |
A |
12: 72,939,604 (GRCm39) |
Q435H |
possibly damaging |
Het |
| Aass |
G |
T |
6: 23,075,746 (GRCm39) |
A797E |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,608,223 (GRCm39) |
Y565N |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,269,372 (GRCm39) |
T1162A |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,887,131 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,894,297 (GRCm39) |
P111S |
probably damaging |
Het |
| Ccdc66 |
T |
A |
14: 27,213,850 (GRCm39) |
E328D |
probably damaging |
Het |
| Cldn8 |
T |
A |
16: 88,359,902 (GRCm39) |
M8L |
probably benign |
Het |
| Cnot9 |
T |
A |
1: 74,558,142 (GRCm39) |
L96* |
probably null |
Het |
| Cntnap5c |
T |
A |
17: 58,445,642 (GRCm39) |
C561S |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,293,936 (GRCm39) |
D1347G |
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,682,888 (GRCm39) |
V390A |
|
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Eps15l1 |
G |
T |
8: 73,145,762 (GRCm39) |
S157* |
probably null |
Het |
| Ercc6l2 |
A |
G |
13: 63,967,866 (GRCm39) |
I155M |
possibly damaging |
Het |
| Esco1 |
G |
T |
18: 10,594,005 (GRCm39) |
T427K |
probably benign |
Het |
| Fignl1 |
C |
T |
11: 11,752,692 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,177 (GRCm39) |
S172G |
probably damaging |
Het |
| Frmd3 |
A |
T |
4: 74,063,269 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
T |
G |
5: 134,225,407 (GRCm39) |
I165S |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,657,833 (GRCm39) |
I417F |
probably damaging |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lpp |
T |
A |
16: 24,580,889 (GRCm39) |
W327R |
probably benign |
Het |
| Msrb2 |
T |
A |
2: 19,383,041 (GRCm39) |
F56I |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,554,305 (GRCm39) |
I3996T |
unknown |
Het |
| Myh4 |
C |
A |
11: 67,139,573 (GRCm39) |
A630E |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Oacyl |
T |
A |
18: 65,840,484 (GRCm39) |
F85Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,530 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5b118 |
T |
A |
19: 13,448,670 (GRCm39) |
I70N |
probably damaging |
Het |
| Or6c69b |
T |
A |
10: 129,626,727 (GRCm39) |
I244F |
possibly damaging |
Het |
| Pcdha11 |
A |
C |
18: 37,139,877 (GRCm39) |
E502A |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,717,582 (GRCm39) |
E1509G |
possibly damaging |
Het |
| Pfkm |
A |
T |
15: 98,021,680 (GRCm39) |
S314C |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,674,924 (GRCm39) |
H230R |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,251,893 (GRCm39) |
V427E |
possibly damaging |
Het |
| Ppox |
TCTTATACCTGGAC |
TC |
1: 171,105,447 (GRCm39) |
|
probably benign |
Het |
| Prr11 |
G |
A |
11: 86,992,249 (GRCm39) |
P209S |
probably damaging |
Het |
| Prrc2b |
C |
A |
2: 32,109,304 (GRCm39) |
Q1690K |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,620,465 (GRCm39) |
M564L |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,149,452 (GRCm39) |
Y820H |
probably damaging |
Het |
| Six4 |
A |
C |
12: 73,159,498 (GRCm39) |
I154S |
possibly damaging |
Het |
| Spata31e4 |
A |
T |
13: 50,856,276 (GRCm39) |
H638L |
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,801,989 (GRCm39) |
K323E |
probably damaging |
Het |
| Stmn4 |
A |
T |
14: 66,596,126 (GRCm39) |
|
probably null |
Het |
| Tafa2 |
A |
G |
10: 123,429,421 (GRCm39) |
K12E |
probably benign |
Het |
| Tanc2 |
C |
T |
11: 105,689,518 (GRCm39) |
R227* |
probably null |
Het |
| Tcp1 |
T |
A |
17: 13,139,210 (GRCm39) |
V179D |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,328,038 (GRCm39) |
F388L |
probably damaging |
Het |
| Tsc2 |
G |
T |
17: 24,822,164 (GRCm39) |
P1126H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,612,720 (GRCm39) |
I17120F |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,778,270 (GRCm39) |
K1372N |
unknown |
Het |
| U2surp |
T |
C |
9: 95,359,563 (GRCm39) |
T652A |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,592,972 (GRCm39) |
V2239A |
probably benign |
Het |
| Vps33b |
A |
G |
7: 79,935,339 (GRCm39) |
T356A |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,623,262 (GRCm39) |
H1786Q |
|
Het |
| Wwox |
A |
G |
8: 115,215,682 (GRCm39) |
I152V |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,977,418 (GRCm39) |
T405A |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,962,712 (GRCm39) |
I257F |
possibly 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 |
|
R8034:Fuz
|
UTSW |
7 |
44,545,684 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8486:Fuz
|
UTSW |
7 |
44,548,092 (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'- TCTCCAAAACTCAAGAGAGCTG -3'
(R):5'- AAGAGGCATCTAGGACCCAC -3'
Sequencing Primer
(F):5'- TCCCTCATACCTAGGAGTCCAGG -3'
(R):5'- ATCTAGGACCCACGTAGGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation