Mutagenetix > Incidental Mutation

Incidental Mutation 'R5278:Fuz'

404048

Institutional Source

Beutler Lab

Gene Symbol

Fuz

Ensembl Gene

ENSMUSG00000011658

Gene Name

fuzzy planar cell polarity protein

Synonyms

2600013E07Rik, b2b1273Clo

MMRRC Submission

042865-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R5278 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44545517-44552053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44545701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 9 (P9L)

Ref Sequence

ENSEMBL: ENSMUSP00000147169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003049] [ENSMUST00000071207] [ENSMUST00000085399] [ENSMUST00000107857] [ENSMUST00000207069] [ENSMUST00000207485] [ENSMUST00000207154] [ENSMUST00000207278] [ENSMUST00000166972] [ENSMUST00000167930] [ENSMUST00000208600] [ENSMUST00000209132] [ENSMUST00000207939] [ENSMUST00000208179] [ENSMUST00000209039] [ENSMUST00000207788] [ENSMUST00000208551] [ENSMUST00000208556] [ENSMUST00000209163] [ENSMUST00000207654] [ENSMUST00000208253]

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 benign
Transcript: ENSMUST00000071207
AA Change: P9L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658
AA Change: P9L

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

noncoding transcript
Transcript: ENSMUST00000164374
AA Change: P62L

Predicted Effect

probably benign
Transcript: ENSMUST00000164723
AA Change: P9L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000166552
AA Change: P9L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126187
Gene: ENSMUSG00000011658
AA Change: P9L

Domain	Start	End	E-Value	Type
low complexity region	198	223	N/A	INTRINSIC
low complexity region	256	274	N/A	INTRINSIC
low complexity region	346	355	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168207
AA Change: P9L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000132597
Gene: ENSMUSG00000011658
AA Change: P9L

Domain	Start	End	E-Value	Type
low complexity region	234	259	N/A	INTRINSIC
low complexity region	292	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166849
AA Change: P9L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000168389
AA Change: P9L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128583
Gene: ENSMUSG00000011658
AA Change: P9L

Domain	Start	End	E-Value	Type
low complexity region	168	193	N/A	INTRINSIC
low complexity region	226	244	N/A	INTRINSIC
low complexity region	316	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168712
AA Change: P9L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000172214
AA Change: P9L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000207069
AA Change: P9L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207485
AA Change: P9L

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000207154
AA Change: P9L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000207278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207480

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 benign
Transcript: ENSMUST00000208600
AA Change: P9L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000209132
AA Change: P9L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

unknown
Transcript: ENSMUST00000207939
AA Change: R7W

Predicted Effect

probably benign
Transcript: ENSMUST00000208179
AA Change: P9L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000209039
AA Change: P9L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209067

Predicted Effect

probably benign
Transcript: ENSMUST00000207788

Predicted Effect

probably benign
Transcript: ENSMUST00000208908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208484

Predicted Effect

probably benign
Transcript: ENSMUST00000208551

Predicted Effect

probably benign
Transcript: ENSMUST00000207490

Predicted Effect

probably benign
Transcript: ENSMUST00000208556

Predicted Effect

probably benign
Transcript: ENSMUST00000209163

Predicted Effect

probably benign
Transcript: ENSMUST00000207654

Predicted Effect

probably benign
Transcript: ENSMUST00000208253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207833

Predicted Effect

probably benign
Transcript: ENSMUST00000208472

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	C	T	5: 35,745,500 (GRCm39)		probably benign	Het
Acvr2b	G	A	9: 119,261,555 (GRCm39)	V383I	probably damaging	Het
Akap12	T	C	10: 4,304,792 (GRCm39)	M534T	probably benign	Het
Akp3	G	A	1: 87,052,888 (GRCm39)	E26K	probably benign	Het
Alcam	A	G	16: 52,094,638 (GRCm39)	I371T	probably benign	Het
Ap2a1	T	C	7: 44,552,203 (GRCm39)	T794A	probably benign	Het
Apeh	G	A	9: 107,968,457 (GRCm39)	P349S	probably benign	Het
Asb7	G	T	7: 66,328,933 (GRCm39)	Q36K	possibly damaging	Het
Asl	A	G	5: 130,047,672 (GRCm39)		probably null	Het
Atp13a2	T	A	4: 140,728,129 (GRCm39)	I574N	probably damaging	Het
Bcl2l2	T	A	14: 55,122,251 (GRCm39)	I138N	probably damaging	Het
Cacna1d	C	T	14: 30,074,881 (GRCm39)		probably null	Het
Ccdc9	C	T	7: 16,012,306 (GRCm39)	W1*	probably null	Het
Cdh18	T	A	15: 23,474,244 (GRCm39)	S705T	probably benign	Het
Ces5a	A	T	8: 94,252,266 (GRCm39)	W209R	probably damaging	Het
Chpf2	T	A	5: 24,793,088 (GRCm39)		probably benign	Het
Cul9	T	A	17: 46,821,799 (GRCm39)	H1892L	probably damaging	Het
Cxcl13	A	G	5: 96,106,586 (GRCm39)	T53A	probably benign	Het
Cyp2s1	T	A	7: 25,505,309 (GRCm39)	Y385F	possibly damaging	Het
Ddx46	A	G	13: 55,823,851 (GRCm39)	E915G	probably damaging	Het
Elovl3	G	A	19: 46,122,540 (GRCm39)	V113I	probably benign	Het
Fam53c	A	T	18: 34,895,671 (GRCm39)		probably benign	Het
Fbxw15	A	T	9: 109,384,752 (GRCm39)	F349L	probably benign	Het
Igf1r	C	T	7: 67,843,166 (GRCm39)	T759M	possibly damaging	Het
Impg2	G	A	16: 56,041,880 (GRCm39)	D175N	probably benign	Het
Jade1	G	T	3: 41,543,444 (GRCm39)	R43L	possibly damaging	Het
Kntc1	A	G	5: 123,919,077 (GRCm39)	E816G	probably damaging	Het
Mettl8	A	T	2: 70,803,641 (GRCm39)	D262E	probably damaging	Het
Mrpl48	A	G	7: 100,201,790 (GRCm39)	V156A	probably damaging	Het
Mst1	A	C	9: 107,959,414 (GRCm39)	K233N	probably damaging	Het
Myh13	A	G	11: 67,225,390 (GRCm39)	I252V	probably benign	Het
Nox4	T	C	7: 87,021,134 (GRCm39)	W449R	probably damaging	Het
Or2a52	T	C	6: 43,144,655 (GRCm39)	L221P	probably damaging	Het
Or2l5	A	T	16: 19,334,128 (GRCm39)	L86*	probably null	Het
Pank4	T	C	4: 155,056,622 (GRCm39)	L351P	probably damaging	Het
Pappa2	A	T	1: 158,609,973 (GRCm39)		probably null	Het
Peg10	CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC	CCATCAGGATGCACATCAGGATCC	6: 4,756,442 (GRCm39)		probably benign	Het
Polr3e	T	A	7: 120,522,184 (GRCm39)	I10K	possibly damaging	Het
Prkdc	T	C	16: 15,532,838 (GRCm39)	I1489T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sh3pxd2b	A	G	11: 32,331,447 (GRCm39)	D57G	probably damaging	Het
Shank2	G	A	7: 143,622,612 (GRCm39)		probably null	Het
Slc15a4	A	T	5: 127,694,033 (GRCm39)	V134E	probably damaging	Het
Slc49a4	A	G	16: 35,518,358 (GRCm39)	S452P	probably damaging	Het
Stxbp5l	G	T	16: 37,007,016 (GRCm39)	Q726K	probably benign	Het
Tesk2	T	G	4: 116,663,133 (GRCm39)		probably benign	Het
Tex2	A	G	11: 106,458,639 (GRCm39)	S264P	probably benign	Het
Tnik	A	G	3: 28,704,209 (GRCm39)	Q1003R	probably damaging	Het
Trip12	C	T	1: 84,739,868 (GRCm39)	R628H	probably damaging	Het
Vmn2r69	G	A	7: 85,060,991 (GRCm39)	H198Y	probably benign	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
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
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'- AGGGTCATGATGACTTCCGG -3'
(R):5'- TTAGTCCCCTAAAGGCTCCG -3'

Sequencing Primer
(F):5'- AGAATCCTGTTGGAGGGGC -3'
(R):5'- GAGCCTCTACTCCCTGCACG -3'

Posted On

2016-07-22