Mutagenetix > Incidental Mutation

Incidental Mutation 'R4744:Fignl1'

356592

Institutional Source

Beutler Lab

Gene Symbol

Fignl1

Ensembl Gene

ENSMUSG00000035455

Gene Name

fidgetin-like 1

Synonyms

MMRRC Submission

042027-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11750288-11758983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11751585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 490 (M490T)

Ref Sequence

ENSEMBL: ENSMUSP00000126340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047689] [ENSMUST00000109664] [ENSMUST00000150714] [ENSMUST00000171080] [ENSMUST00000171938]

AlphaFold

Q8BPY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000047689
AA Change: M490T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036932
Gene: ENSMUSG00000035455
AA Change: M490T

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
low complexity region	202	214	N/A	INTRINSIC
AAA	442	578	2.62e-20	SMART
Pfam:Vps4_C	635	680	6.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109664
AA Change: M490T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105290
Gene: ENSMUSG00000035455
AA Change: M490T

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
low complexity region	202	214	N/A	INTRINSIC
AAA	442	578	2.62e-20	SMART
Pfam:Vps4_C	635	680	6.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123815

Predicted Effect

probably benign
Transcript: ENSMUST00000150714

SMART Domains

Protein: ENSMUSP00000119528
Gene: ENSMUSG00000035455

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152345

Predicted Effect

probably damaging
Transcript: ENSMUST00000171080
AA Change: M490T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127489
Gene: ENSMUSG00000035455
AA Change: M490T

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
low complexity region	202	214	N/A	INTRINSIC
AAA	442	578	2.62e-20	SMART
Pfam:Vps4_C	635	680	9.4e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171938
AA Change: M490T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126340
Gene: ENSMUSG00000035455
AA Change: M490T

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
low complexity region	202	214	N/A	INTRINSIC
AAA	442	578	2.62e-20	SMART
Pfam:Vps4_C	635	680	6.5e-9	PFAM

Meta Mutation Damage Score

0.2218

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (82/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombination. This protein has also been shown to localize to the centrosome and inhibit ciliogenesis, and may regulate the proliferation and differentiation of osteoblasts. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,017,617 (GRCm39)	S143P	possibly damaging	Het
4933427D14Rik	T	C	11: 72,066,365 (GRCm39)	K614E	probably damaging	Het
Aatk	A	G	11: 119,906,948 (GRCm39)	M155T	possibly damaging	Het
Acvr2b	T	C	9: 119,260,328 (GRCm39)	L333P	probably damaging	Het
Adam22	T	C	5: 8,128,699 (GRCm39)	E865G	probably damaging	Het
Add2	A	G	6: 86,087,870 (GRCm39)	S358G	probably damaging	Het
Agap2	T	C	10: 126,926,072 (GRCm39)		probably null	Het
Alkbh8	G	A	9: 3,344,604 (GRCm39)	W49*	probably null	Het
AU015228	A	T	2: 129,942,549 (GRCm39)		noncoding transcript	Het
Bank1	G	T	3: 135,953,450 (GRCm39)	R102S	probably benign	Het
Brap	T	A	5: 121,800,193 (GRCm39)	D27E	probably damaging	Het
Cyb5r2	G	T	7: 107,349,484 (GRCm39)	H276N	possibly damaging	Het
Dhh	A	G	15: 98,792,139 (GRCm39)	F290L	possibly damaging	Het
Dhrs7	T	A	12: 72,699,025 (GRCm39)	N319I	possibly damaging	Het
Ebpl	A	G	14: 61,597,682 (GRCm39)	V53A	probably damaging	Het
Eif3j2	TGCCGCCGCCGCCGCCGCCGCCGCCGCC	TGCCGCCGCCGCCGCCGCCGCCGCC	18: 43,610,782 (GRCm39)		probably benign	Het
Etnk1	A	C	6: 143,132,319 (GRCm39)	N220T	probably damaging	Het
F11r	T	A	1: 171,288,166 (GRCm39)	V64D	probably benign	Het
Fam171a1	T	C	2: 3,225,946 (GRCm39)	S360P	probably damaging	Het
Fpr-rs7	A	T	17: 20,334,265 (GRCm39)	M75K	probably benign	Het
Fzd7	T	A	1: 59,523,595 (GRCm39)	F493I	possibly damaging	Het
Galnt14	G	T	17: 73,814,828 (GRCm39)	P412T	probably damaging	Het
Gcg	T	A	2: 62,308,975 (GRCm39)	S60C	probably damaging	Het
Ggt1	A	G	10: 75,421,733 (GRCm39)	K527E	probably benign	Het
Gm16551	T	A	9: 74,758,153 (GRCm39)		noncoding transcript	Het
Gm9972	A	G	11: 42,927,517 (GRCm39)	K55E	unknown	Het
Gpr141	T	A	13: 19,935,884 (GRCm39)	D297V	probably benign	Het
Grin2b	G	A	6: 135,755,697 (GRCm39)	S539L	probably damaging	Het
Hhipl1	A	T	12: 108,286,238 (GRCm39)	N515I	possibly damaging	Het
Hmcn1	T	G	1: 150,453,363 (GRCm39)	E5317D	probably damaging	Het
Hsf5	T	A	11: 87,513,617 (GRCm39)	N227K	probably benign	Het
Igfn1	A	T	1: 135,910,196 (GRCm39)	D129E	probably benign	Het
Invs	T	C	4: 48,397,609 (GRCm39)	F339L	probably damaging	Het
Jak2	T	A	19: 29,239,656 (GRCm39)	S17T	probably benign	Het
Mdga2	T	A	12: 66,844,501 (GRCm39)	I166F	probably benign	Het
Nck1	T	C	9: 100,388,797 (GRCm39)	I6V	probably benign	Het
Neb	T	C	2: 52,040,589 (GRCm39)	D6624G	probably benign	Het
Nmur2	A	G	11: 55,931,661 (GRCm39)	Y17H	probably benign	Het
Nwd2	T	C	5: 63,964,310 (GRCm39)	L1298P	probably damaging	Het
Ocel1	A	G	8: 71,825,397 (GRCm39)	E161G	probably damaging	Het
Or1j16	A	T	2: 36,530,991 (GRCm39)		probably null	Het
Pabpc2	A	G	18: 39,907,881 (GRCm39)	Y382C	probably benign	Het
Panx1	A	G	9: 14,921,594 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,872,641 (GRCm39)	V147D	probably benign	Het
Pigz	A	T	16: 31,764,151 (GRCm39)	H403L	probably damaging	Het
Pilra	T	C	5: 137,833,769 (GRCm39)		probably null	Het
Rbm47	T	C	5: 66,184,036 (GRCm39)	D189G	probably damaging	Het
Rhobtb2	A	G	14: 70,031,451 (GRCm39)	L558P	probably damaging	Het
Scarf2	G	A	16: 17,621,380 (GRCm39)	R322H	probably damaging	Het
Septin3	T	C	15: 82,174,658 (GRCm39)		probably null	Het
Sirt2	T	C	7: 28,476,438 (GRCm39)	F26L	probably damaging	Het
Slc1a1	A	T	19: 28,871,925 (GRCm39)	T133S	probably benign	Het
Slc1a2	A	G	2: 102,568,214 (GRCm39)	I84V	probably benign	Het
Slc28a2b	A	T	2: 122,353,286 (GRCm39)	K489*	probably null	Het
Slc6a9	A	T	4: 117,725,092 (GRCm39)	Q562L	probably benign	Het
Snx29	C	T	16: 11,167,773 (GRCm39)	Q25*	probably null	Het
St6galnac6	A	G	2: 32,508,555 (GRCm39)	I231V	probably damaging	Het
Stard9	A	G	2: 120,526,604 (GRCm39)	T954A	probably benign	Het
Sufu	A	G	19: 46,472,069 (GRCm39)	M443V	possibly damaging	Het
Sv2b	T	C	7: 74,856,266 (GRCm39)	D8G	probably benign	Het
Tapbpl	G	A	6: 125,205,248 (GRCm39)	R233W	probably damaging	Het
Tex10	A	G	4: 48,469,990 (GRCm39)	L25S	probably benign	Het
Trp53bp1	A	T	2: 121,041,794 (GRCm39)	V1254D	probably damaging	Het
Ugt3a1	T	A	15: 9,310,639 (GRCm39)	I307N	probably benign	Het
Unc13c	T	C	9: 73,839,126 (GRCm39)	D575G	probably damaging	Het
Usf2	A	T	7: 30,654,197 (GRCm39)	D166E	probably damaging	Het
Usp25	T	A	16: 76,911,877 (GRCm39)	L969M	probably damaging	Het
Usp32	G	A	11: 84,885,219 (GRCm39)	P1276L	probably damaging	Het
Vmn2r8	T	A	5: 108,956,447 (GRCm39)	E58D	probably benign	Het
Zfp462	G	T	4: 55,011,598 (GRCm39)	C40F	probably damaging	Het

Other mutations in Fignl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02377:Fignl1	APN	11	11,752,845 (GRCm39)	missense	possibly damaging	0.56
IGL02634:Fignl1	APN	11	11,752,756 (GRCm39)	nonsense	probably null
IGL03161:Fignl1	APN	11	11,752,680 (GRCm39)	missense	probably benign	0.13
R0226:Fignl1	UTSW	11	11,751,061 (GRCm39)	missense	probably benign	0.14
R2019:Fignl1	UTSW	11	11,752,054 (GRCm39)	missense	probably damaging	0.99
R4611:Fignl1	UTSW	11	11,751,268 (GRCm39)	missense	probably benign
R5182:Fignl1	UTSW	11	11,751,717 (GRCm39)	missense	probably damaging	1.00
R5322:Fignl1	UTSW	11	11,751,571 (GRCm39)	missense	probably damaging	1.00
R5470:Fignl1	UTSW	11	11,752,640 (GRCm39)	missense	probably benign	0.00
R5551:Fignl1	UTSW	11	11,751,603 (GRCm39)	missense	probably damaging	1.00
R5765:Fignl1	UTSW	11	11,752,011 (GRCm39)	splice site	probably null
R6135:Fignl1	UTSW	11	11,752,557 (GRCm39)	missense	probably benign
R7714:Fignl1	UTSW	11	11,752,842 (GRCm39)	missense	probably damaging	1.00
R8996:Fignl1	UTSW	11	11,752,953 (GRCm39)	missense	probably damaging	1.00
R9065:Fignl1	UTSW	11	11,752,692 (GRCm39)	missense	possibly damaging	0.60
R9467:Fignl1	UTSW	11	11,751,483 (GRCm39)	missense	probably damaging	1.00
R9558:Fignl1	UTSW	11	11,751,778 (GRCm39)	missense	possibly damaging	0.92
R9729:Fignl1	UTSW	11	11,752,219 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTTGTAGCTCCCACCACAAG -3'
(R):5'- AAAGGAAATCGTTGTGTGGC -3'

Sequencing Primer
(F):5'- GAATCCGGTCTTCAGAAGATGTG -3'
(R):5'- CCCATGATGAGGCCAGATATCTTTAC -3'

Posted On

2015-11-11