Mutagenetix > Incidental Mutation

Incidental Mutation 'R0712:Anln'

62782

Institutional Source

Beutler Lab

Gene Symbol

Anln

Ensembl Gene

ENSMUSG00000036777

Gene Name

anillin, actin binding protein

Synonyms

1110037A17Rik, Scraps, 2900037I21Rik

MMRRC Submission

038895-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0712 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

22243308-22300484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22291594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 78 (V78E)

Ref Sequence

ENSEMBL: ENSMUSP00000045873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040912]

AlphaFold

Q8K298

Predicted Effect

probably benign
Transcript: ENSMUST00000040912
AA Change: V78E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000045873
Gene: ENSMUSG00000036777
AA Change: V78E

Domain	Start	End	E-Value	Type
low complexity region	97	121	N/A	INTRINSIC
Pfam:Anillin_N	141	227	5e-34	PFAM
low complexity region	234	250	N/A	INTRINSIC
low complexity region	282	298	N/A	INTRINSIC
Pfam:Anillin_N	423	501	2.7e-6	PFAM
coiled coil region	566	599	N/A	INTRINSIC
coiled coil region	710	729	N/A	INTRINSIC
low complexity region	749	759	N/A	INTRINSIC
Pfam:Anillin	797	950	8.8e-39	PFAM
PH	981	1106	1.8e-14	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd1	G	A	X: 72,774,471 (GRCm39)	V489M	possibly damaging	Het
Atp2b4	T	C	1: 133,658,216 (GRCm39)	K565E	probably damaging	Het
Cap2	T	C	13: 46,768,837 (GRCm39)		probably null	Het
Cdh22	A	G	2: 165,012,576 (GRCm39)	Y170H	probably damaging	Het
Chrna5	A	T	9: 54,911,647 (GRCm39)	K45I	probably damaging	Het
Dnaaf4	G	T	9: 72,867,939 (GRCm39)	G67*	probably null	Het
Hdac8	T	A	X: 101,543,524 (GRCm39)	M67L	probably benign	Het
Lama1	A	G	17: 68,086,037 (GRCm39)		probably null	Het
Lrba	T	A	3: 86,205,297 (GRCm39)	Y380*	probably null	Het
Mastl	A	G	2: 23,041,005 (GRCm39)	Y106H	probably damaging	Het
Obscn	T	C	11: 58,940,271 (GRCm39)	E5210G	possibly damaging	Het
Or12d2	T	A	17: 37,624,975 (GRCm39)	H100L	probably damaging	Het
Or4d5	A	G	9: 40,012,726 (GRCm39)	V20A	probably benign	Het
Pcgf2	T	C	11: 97,581,830 (GRCm39)	Y21C	probably damaging	Het
Penk	T	C	4: 4,134,257 (GRCm39)	E130G	probably benign	Het
Rnmt	G	A	18: 68,440,859 (GRCm39)		probably null	Het
Stk11ip	T	A	1: 75,504,091 (GRCm39)	L277Q	probably damaging	Het
Synpo2l	A	G	14: 20,711,907 (GRCm39)	S238P	probably damaging	Het
Tex264	A	C	9: 106,536,431 (GRCm39)	L242R	possibly damaging	Het
Ubald2	T	C	11: 116,325,401 (GRCm39)	F46S	probably damaging	Het
Zfp692	T	C	11: 58,205,140 (GRCm39)	V463A	probably benign	Het

Other mutations in Anln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Anln	APN	9	22,272,120 (GRCm39)	nonsense	probably null
IGL01634:Anln	APN	9	22,271,771 (GRCm39)	missense	probably benign	0.00
IGL02145:Anln	APN	9	22,250,292 (GRCm39)	splice site	probably null
IGL02296:Anln	APN	9	22,283,483 (GRCm39)	missense	possibly damaging	0.67
IGL02352:Anln	APN	9	22,279,708 (GRCm39)	missense	probably benign	0.00
IGL02601:Anln	APN	9	22,249,331 (GRCm39)	missense	probably damaging	0.99
IGL02821:Anln	APN	9	22,269,418 (GRCm39)	missense	possibly damaging	0.55
IGL02863:Anln	APN	9	22,287,661 (GRCm39)	missense	probably damaging	1.00
IGL03274:Anln	APN	9	22,293,565 (GRCm39)	missense	probably damaging	1.00
R0114:Anln	UTSW	9	22,264,642 (GRCm39)	missense	probably damaging	0.99
R0486:Anln	UTSW	9	22,264,122 (GRCm39)	missense	probably benign	0.31
R1618:Anln	UTSW	9	22,262,214 (GRCm39)	critical splice donor site	probably null
R1734:Anln	UTSW	9	22,262,251 (GRCm39)	missense	possibly damaging	0.71
R1856:Anln	UTSW	9	22,264,627 (GRCm39)	missense	probably damaging	1.00
R1999:Anln	UTSW	9	22,244,348 (GRCm39)	makesense	probably null
R2073:Anln	UTSW	9	22,244,464 (GRCm39)	missense	probably benign	0.45
R2075:Anln	UTSW	9	22,244,464 (GRCm39)	missense	probably benign	0.45
R2696:Anln	UTSW	9	22,272,259 (GRCm39)	missense	probably benign	0.08
R2943:Anln	UTSW	9	22,267,342 (GRCm39)	splice site	probably null
R4278:Anln	UTSW	9	22,245,296 (GRCm39)	critical splice donor site	probably null
R4548:Anln	UTSW	9	22,274,184 (GRCm39)	missense	possibly damaging	0.80
R4887:Anln	UTSW	9	22,291,484 (GRCm39)	missense	possibly damaging	0.46
R4979:Anln	UTSW	9	22,287,797 (GRCm39)	missense	probably benign
R5087:Anln	UTSW	9	22,286,340 (GRCm39)	missense	possibly damaging	0.61
R5197:Anln	UTSW	9	22,264,077 (GRCm39)	critical splice donor site	probably null
R5353:Anln	UTSW	9	22,271,813 (GRCm39)	missense	probably damaging	1.00
R5748:Anln	UTSW	9	22,249,230 (GRCm39)	missense	probably damaging	0.97
R5863:Anln	UTSW	9	22,249,280 (GRCm39)	missense	probably damaging	0.99
R6146:Anln	UTSW	9	22,287,604 (GRCm39)	nonsense	probably null
R6152:Anln	UTSW	9	22,271,803 (GRCm39)	missense	probably damaging	0.98
R6170:Anln	UTSW	9	22,279,793 (GRCm39)	missense	probably benign	0.01
R6261:Anln	UTSW	9	22,275,342 (GRCm39)	missense	probably damaging	1.00
R6264:Anln	UTSW	9	22,245,413 (GRCm39)	missense	possibly damaging	0.82
R6656:Anln	UTSW	9	22,262,298 (GRCm39)	missense	probably damaging	1.00
R6864:Anln	UTSW	9	22,293,545 (GRCm39)	missense	probably benign	0.36
R7514:Anln	UTSW	9	22,272,153 (GRCm39)	missense	probably damaging	0.96
R7789:Anln	UTSW	9	22,263,333 (GRCm39)	missense
R7807:Anln	UTSW	9	22,272,176 (GRCm39)	missense	probably damaging	1.00
R7840:Anln	UTSW	9	22,274,019 (GRCm39)	missense	probably benign	0.03
R7912:Anln	UTSW	9	22,269,965 (GRCm39)	missense	possibly damaging	0.53
R8246:Anln	UTSW	9	22,262,251 (GRCm39)	missense	probably benign	0.00
R8720:Anln	UTSW	9	22,284,573 (GRCm39)	missense	probably benign	0.00
R8839:Anln	UTSW	9	22,267,468 (GRCm39)	missense	probably benign	0.02
R9054:Anln	UTSW	9	22,272,116 (GRCm39)	critical splice donor site	probably null
R9094:Anln	UTSW	9	22,249,283 (GRCm39)	missense	probably benign	0.03
R9507:Anln	UTSW	9	22,274,136 (GRCm39)	missense	probably damaging	1.00
R9683:Anln	UTSW	9	22,283,536 (GRCm39)	nonsense	probably null
R9802:Anln	UTSW	9	22,245,453 (GRCm39)	missense	probably damaging	0.99
R9803:Anln	UTSW	9	22,283,518 (GRCm39)	missense	probably damaging	1.00
Z1088:Anln	UTSW	9	22,274,097 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCAGCAAGCCTTTGCATTCG -3'
(R):5'- AAGTGATTCCGCTGTGTGAGCC -3'

Sequencing Primer
(F):5'- TTAACTGAGGAGGTTGCAGATGC -3'
(R):5'- AGGTCTCACTGTGGGCTTTT -3'

Posted On

2013-07-30