Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Fign'

49353

Institutional Source

Beutler Lab

Gene Symbol

Fign

Ensembl Gene

ENSMUSG00000075324

Gene Name

fidgetin

Synonyms

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63971507-64098038 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63980791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 45 (H45L)

Ref Sequence

ENSEMBL: ENSMUSP00000122855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102728] [ENSMUST00000131615]

AlphaFold

Q9ERZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000102728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126042

Predicted Effect

probably damaging
Transcript: ENSMUST00000131615
AA Change: H45L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122855
Gene: ENSMUSG00000075324
AA Change: H45L

Domain	Start	End	E-Value	Type
low complexity region	204	235	N/A	INTRINSIC
low complexity region	243	254	N/A	INTRINSIC
low complexity region	259	291	N/A	INTRINSIC
AAA	518	654	7.03e-12	SMART
Pfam:Vps4_C	708	756	2.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153538

Meta Mutation Damage Score

0.1450

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

MGI Phenotype

PHENOTYPE: Homozygotes for a reporter allele show pre- and postnatal death, head-shaking, and small eyes. Spontaneous mutants show head-shaking, circling, reduced or absent semicircular canals, small abnormal eyes, aberrant cell-cycling, female sterility, and low prenetrance craniofacial and skeletal 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
4933416C03Rik	T	C	10: 116,112,802	E273G	possibly damaging	Het
4933425L06Rik	C	A	13: 105,082,254	S32*	probably null	Het
Cand2	A	G	6: 115,787,236	M324V	probably damaging	Het
Cap1	C	T	4: 122,862,719	V340M	probably benign	Het
Ccdc110	T	C	8: 45,935,138	V44A	possibly damaging	Het
Cps1	A	G	1: 67,143,900	D139G	probably benign	Het
Cwc27	T	A	13: 104,631,616	E457V	unknown	Het
Cxxc1	C	T	18: 74,218,891	P280S	probably benign	Het
Dopey2	T	A	16: 93,762,505	L595Q	probably benign	Het
Dscam	G	T	16: 96,652,172	S1292R	possibly damaging	Het
E2f4	C	A	8: 105,304,219	F353L	probably damaging	Het
Ep300	A	G	15: 81,600,896		probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Flcn	T	A	11: 59,794,199		probably benign	Het
Gm5141	A	T	13: 62,774,594	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,591,268	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,824	C340*	probably null	Het
Gtf3c2	A	T	5: 31,158,132		probably benign	Het
Hcfc2	T	A	10: 82,738,408	F139I	probably damaging	Het
Hectd4	T	C	5: 121,348,476	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 45,337,235		probably benign	Het
Igf2bp1	A	G	11: 95,966,796		probably benign	Het
Igsf9b	T	G	9: 27,333,062		probably null	Het
Il23r	G	A	6: 67,426,588	A443V	probably benign	Het
Kcnv1	A	G	15: 45,109,249	F413L	probably damaging	Het
Lipe	C	A	7: 25,388,186	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,557,273	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,266,853	W13L	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Npy1r	C	A	8: 66,705,018	Q327K	probably damaging	Het
Olfr64	C	T	7: 103,893,231	R168H	probably benign	Het
Osbpl10	C	T	9: 115,167,178	L139F	probably damaging	Het
P2rx6	A	C	16: 17,567,904	T199P	probably damaging	Het
Phyhip	A	T	14: 70,461,759	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,120,130	I342N	possibly damaging	Het
Reln	A	T	5: 21,947,408	D2353E	probably damaging	Het
Rmdn3	T	C	2: 119,146,370	E294G	probably benign	Het
Scnn1g	A	G	7: 121,767,424	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,428,568	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,425,280	S1345P	possibly damaging	Het
Soga3	T	A	10: 29,180,956		probably benign	Het
St5	A	T	7: 109,541,428	V197D	probably damaging	Het
Timp4	A	G	6: 115,249,841	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,224,887	L459Q	probably benign	Het
Tmem104	C	A	11: 115,200,828	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp622	A	T	15: 25,984,568	I7F	possibly damaging	Het

Other mutations in Fign

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Fign	APN	2	63979010	missense	probably damaging	0.99
IGL01149:Fign	APN	2	63979760	missense	possibly damaging	0.92
IGL01328:Fign	APN	2	63978872	missense	probably damaging	0.97
IGL01448:Fign	APN	2	63979688	missense	probably damaging	0.97
IGL01680:Fign	APN	2	63978644	utr 3 prime	probably benign
IGL01989:Fign	APN	2	63980450	missense	probably benign
IGL02010:Fign	APN	2	63980400	missense	probably damaging	0.98
IGL02092:Fign	APN	2	63980583	missense	possibly damaging	0.95
IGL02252:Fign	APN	2	63980639	missense	probably benign	0.14
IGL02455:Fign	APN	2	63980497	missense	probably benign	0.22
IGL02541:Fign	APN	2	63979537	missense	probably benign	0.38
IGL03109:Fign	APN	2	63980662	missense	possibly damaging	0.83
R0630:Fign	UTSW	2	63980141	missense	possibly damaging	0.86
R1678:Fign	UTSW	2	63980374	missense	probably damaging	0.99
R2512:Fign	UTSW	2	63979799	missense	probably benign	0.03
R3125:Fign	UTSW	2	63978700	missense	possibly damaging	0.94
R4679:Fign	UTSW	2	63979261	missense	probably damaging	1.00
R4735:Fign	UTSW	2	63980438	missense	probably damaging	1.00
R4753:Fign	UTSW	2	63979019	missense	probably benign	0.04
R5071:Fign	UTSW	2	63979693	nonsense	probably null
R5072:Fign	UTSW	2	63979693	nonsense	probably null
R5073:Fign	UTSW	2	63979693	nonsense	probably null
R5074:Fign	UTSW	2	63979693	nonsense	probably null
R5344:Fign	UTSW	2	63979225	missense	probably benign	0.01
R5427:Fign	UTSW	2	63978998	missense	probably damaging	1.00
R5922:Fign	UTSW	2	63979060	missense	probably damaging	0.99
R6115:Fign	UTSW	2	63979310	missense	probably benign	0.22
R6373:Fign	UTSW	2	63979645	missense	probably benign	0.06
R6542:Fign	UTSW	2	63980295	missense	possibly damaging	0.53
R6637:Fign	UTSW	2	64027908	intron	probably benign
R6858:Fign	UTSW	2	63979813	missense	probably benign	0.02
R7188:Fign	UTSW	2	63979606	missense	possibly damaging	0.95
R7309:Fign	UTSW	2	63979957	missense	possibly damaging	0.77
R7429:Fign	UTSW	2	63979060	missense	probably damaging	0.99
R7430:Fign	UTSW	2	63979060	missense	probably damaging	0.99
R7608:Fign	UTSW	2	63978719	missense	possibly damaging	0.75
R7642:Fign	UTSW	2	63980572	missense	probably benign	0.16
R7782:Fign	UTSW	2	63979162	missense	probably damaging	1.00
R8775:Fign	UTSW	2	63980547	missense	probably benign	0.32
R8775-TAIL:Fign	UTSW	2	63980547	missense	probably benign	0.32
R8939:Fign	UTSW	2	63979112	missense	probably benign	0.37
R9235:Fign	UTSW	2	63980563	missense	probably damaging	0.98
R9496:Fign	UTSW	2	63978909	nonsense	probably null
R9609:Fign	UTSW	2	63979942	missense	probably benign	0.11
X0028:Fign	UTSW	2	63980851	missense	probably damaging	1.00
Z1088:Fign	UTSW	2	64096902	missense	probably benign	0.01
Z1177:Fign	UTSW	2	63979385	missense	probably damaging	1.00
Z1177:Fign	UTSW	2	63979690	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCGACCATTCACGAGTCCTGATG -3'
(R):5'- ACCTGGGAAGATTCTTATCCACCTCC -3'

Sequencing Primer
(F):5'- CCTGATGGTGTGTCTGAATAATTGC -3'
(R):5'- CCACCTCCATATTGTTAGTGGAAG -3'

Posted On

2013-06-12