Mutagenetix > Incidental Mutation

Incidental Mutation 'R1028:Fuz'

95040

Institutional Source

Beutler Lab

Gene Symbol

Fuz

Ensembl Gene

ENSMUSG00000011658

Gene Name

fuzzy planar cell polarity protein

Synonyms

2600013E07Rik, b2b1273Clo

MMRRC Submission

039130-MU

Accession Numbers

Essential gene?

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

Stock #

R1028 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

44545517-44552053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44546350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 39 (I39T)

Ref Sequence

ENSEMBL: ENSMUSP00000146820 (fasta)

Gene Model

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

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: I82T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658
AA Change: I82T

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 benign
Transcript: ENSMUST00000207069

Predicted Effect

probably damaging
Transcript: ENSMUST00000207939
AA Change: I39T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208179
AA Change: I82T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000207278

Predicted Effect

probably benign
Transcript: ENSMUST00000207788

Predicted Effect

probably benign
Transcript: ENSMUST00000207485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207196

Predicted Effect

probably benign
Transcript: ENSMUST00000207154

Predicted Effect

probably benign
Transcript: ENSMUST00000208253

Predicted Effect

probably benign
Transcript: ENSMUST00000208472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207480

Predicted Effect

probably benign
Transcript: ENSMUST00000207654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208291

Predicted Effect

probably damaging
Transcript: ENSMUST00000208600
AA Change: I82T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209039
AA Change: I82T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209132
AA Change: I82T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000208556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209067

Predicted Effect

probably benign
Transcript: ENSMUST00000209163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208484

Predicted Effect

probably benign
Transcript: ENSMUST00000208908

Predicted Effect

probably benign
Transcript: ENSMUST00000208551

Coding Region Coverage

1x: 98.5%
3x: 97.1%
10x: 91.8%
20x: 78.7%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak7	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	12: 105,676,448 (GRCm39)		probably benign	Het
Ano8	GCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTC	8: 71,933,615 (GRCm39)		probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Bpifb9a	G	C	2: 154,104,327 (GRCm39)	E257Q	possibly damaging	Het
Cdh19	T	C	1: 110,882,314 (GRCm39)	I59M	probably benign	Het
Cmah	A	G	13: 24,619,645 (GRCm39)	D171G	probably damaging	Het
Colec12	T	C	18: 9,866,837 (GRCm39)	S683P	unknown	Het
Dixdc1	C	T	9: 50,614,546 (GRCm39)	A168T	probably benign	Het
Dpp6	A	G	5: 27,871,425 (GRCm39)	D461G	probably benign	Het
Entpd3	A	G	9: 120,387,427 (GRCm39)	H208R	probably benign	Het
Gprin3	T	C	6: 59,331,594 (GRCm39)	N238D	possibly damaging	Het
Itpr3	G	T	17: 27,310,343 (GRCm39)	A403S	probably benign	Het
Mroh2a	G	A	1: 88,163,098 (GRCm39)	R376H	probably benign	Het
Mtor	G	C	4: 148,623,287 (GRCm39)	G2046R	possibly damaging	Het
Myh13	T	C	11: 67,247,007 (GRCm39)	S1243P	possibly damaging	Het
Net1	A	T	13: 3,934,375 (GRCm39)	C441S	probably damaging	Het
Nlrp4e	T	C	7: 23,021,169 (GRCm39)	F552S	probably damaging	Het
Or2y15	G	A	11: 49,351,047 (GRCm39)	M180I	probably benign	Het
Or4k47	A	T	2: 111,451,870 (GRCm39)	L183Q	probably damaging	Het
Or9i16	C	A	19: 13,865,159 (GRCm39)	Q138H	probably damaging	Het
Ovch2	T	C	7: 107,395,755 (GRCm39)	I88V	probably benign	Het
Phf1	A	G	17: 27,153,307 (GRCm39)	T42A	possibly damaging	Het
Pkhd1	A	G	1: 20,187,950 (GRCm39)	Y3453H	probably damaging	Het
Rabgef1	T	G	5: 130,241,703 (GRCm39)	L369*	probably null	Het
Rufy1	A	T	11: 50,305,425 (GRCm39)		probably null	Het
Sec16b	T	C	1: 157,388,487 (GRCm39)	V618A	probably benign	Het
Sh3rf1	A	G	8: 61,846,821 (GRCm39)	R876G	possibly damaging	Het
Slc26a8	A	G	17: 28,891,772 (GRCm39)	Y126H	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zp1	G	A	19: 10,896,275 (GRCm39)	T150I	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
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
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'- TGAACTCTGCAAGAACGGAAGACAC -3'
(R):5'- GTCAGCTCCTCAAGTCCCACAATG -3'

Sequencing Primer
(F):5'- GGAAGAACTTCCATGACAGGTCC -3'
(R):5'- GGTCCTTAATAGGATCTAGTCAGAG -3'

Posted On

2014-01-05