Mutagenetix > Incidental Mutation

Incidental Mutation 'R6972:Fuz'

542299

Institutional Source

Beutler Lab

Gene Symbol

Fuz

Ensembl Gene

ENSMUSG00000011658

Gene Name

fuzzy planar cell polarity protein

Synonyms

2600013E07Rik, b2b1273Clo

MMRRC Submission

045082-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R6972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44545517-44552053 bp(+) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

T to C at 44546755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146434 (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] [ENSMUST00000209163] [ENSMUST00000209132]

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

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

probably benign
Transcript: ENSMUST00000207069

Predicted Effect

probably benign
Transcript: ENSMUST00000207154

Predicted Effect

probably benign
Transcript: ENSMUST00000207278

Predicted Effect

probably benign
Transcript: ENSMUST00000207485

Predicted Effect

probably benign
Transcript: ENSMUST00000207654

Predicted Effect

probably benign
Transcript: ENSMUST00000207788

Predicted Effect

probably benign
Transcript: ENSMUST00000207939

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000208600

Predicted Effect

probably benign
Transcript: ENSMUST00000208908

Predicted Effect

probably benign
Transcript: ENSMUST00000209039

Predicted Effect

unknown
Transcript: ENSMUST00000209163
AA Change: V12A

Predicted Effect

probably benign
Transcript: ENSMUST00000209132

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.0%
20x: 95.8%

Validation Efficiency

100% (41/41)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	A	G	7: 79,003,775 (GRCm39)	S285G	probably benign	Het
Afg1l	T	C	10: 42,354,370 (GRCm39)	T10A	probably benign	Het
Akap9	A	G	5: 4,096,699 (GRCm39)	N2525D	possibly damaging	Het
B3gnt7	G	A	1: 86,233,109 (GRCm39)	M1I	probably null	Het
Bdp1	T	C	13: 100,174,269 (GRCm39)	E2089G	probably null	Het
Calcrl	T	G	2: 84,198,922 (GRCm39)	I156L	probably benign	Het
Cd69	T	C	6: 129,246,543 (GRCm39)	S122G	probably benign	Het
Chek2	T	C	5: 111,003,705 (GRCm39)		probably null	Het
Ckap5	T	A	2: 91,436,658 (GRCm39)	I1586K	probably damaging	Het
Cyp4f14	C	T	17: 33,124,483 (GRCm39)	A523T	probably benign	Het
Dcaf1	T	A	9: 106,723,971 (GRCm39)	C466*	probably null	Het
Dcdc2a	A	T	13: 25,304,372 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,842,439 (GRCm39)	I220V	probably benign	Het
Etv2	T	C	7: 30,334,167 (GRCm39)	N189D	probably benign	Het
Git1	T	G	11: 77,390,347 (GRCm39)	V64G	probably damaging	Het
Gpr162	C	T	6: 124,838,272 (GRCm39)	R126H	probably damaging	Het
Grm5	T	C	7: 87,252,131 (GRCm39)	V127A	probably benign	Het
Iqsec1	T	C	6: 90,653,750 (GRCm39)	D665G	probably damaging	Het
Kcnh1	A	G	1: 191,959,144 (GRCm39)	I233V	probably damaging	Het
Lmcd1	C	T	6: 112,287,659 (GRCm39)	T115I	probably damaging	Het
Mybpc1	T	C	10: 88,396,223 (GRCm39)	E208G	possibly damaging	Het
Nfic	C	A	10: 81,256,191 (GRCm39)	A158S	probably benign	Het
Nos3	A	T	5: 24,585,241 (GRCm39)	I798L	probably benign	Het
Ntrk1	A	T	3: 87,691,288 (GRCm39)	L292Q	probably damaging	Het
Or2ag16	A	G	7: 106,351,906 (GRCm39)	S230P	possibly damaging	Het
Orc4	T	C	2: 48,817,196 (GRCm39)	Q164R	probably benign	Het
Pcdhb14	T	A	18: 37,582,745 (GRCm39)	V617E	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plscr3	G	A	11: 69,738,784 (GRCm39)	E149K	probably damaging	Het
Pltp	A	G	2: 164,688,512 (GRCm39)		probably null	Het
Pramel11	A	G	4: 143,623,472 (GRCm39)	L234P	probably damaging	Het
Prg2	G	A	2: 84,812,617 (GRCm39)	R109H	probably benign	Het
Ptprj	G	A	2: 90,410,747 (GRCm39)	S62F	possibly damaging	Het
Resf1	T	A	6: 149,227,607 (GRCm39)	Y218N	probably damaging	Het
Skint3	T	A	4: 112,116,089 (GRCm39)	S240T	probably damaging	Het
Smarca5	A	G	8: 81,431,380 (GRCm39)	Y946H	probably damaging	Het
Taf4b	T	C	18: 14,946,404 (GRCm39)	V409A	possibly damaging	Het
Tafa2	A	G	10: 123,540,278 (GRCm39)	T45A	probably benign	Het
Trim29	T	A	9: 43,238,409 (GRCm39)	N504K	probably benign	Het
Vmn2r77	T	C	7: 86,452,202 (GRCm39)	Y461H	probably damaging	Het
Zeb2	T	C	2: 44,887,330 (GRCm39)	K531E	probably damaging	Het
Zfp687	A	G	3: 94,916,688 (GRCm39)	S813P	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
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'- TTCATACACAGGGATCCAGACC -3'
(R):5'- AGTTCTGAGTTCCCCAGGAAG -3'

Sequencing Primer
(F):5'- AGACCTGGCCTTCCTCTCAAC -3'
(R):5'- TCGATGAGACAGTAGCTGGCC -3'

Posted On

2018-11-28