Mutagenetix > Incidental Mutation

Incidental Mutation 'R1618:Anln'

174443

Institutional Source

Beutler Lab

Gene Symbol

Anln

Ensembl Gene

ENSMUSG00000036777

Gene Name

anillin, actin binding protein

Synonyms

1110037A17Rik, Scraps, 2900037I21Rik

MMRRC Submission

039655-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22243308-22300484 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 22262214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040912] [ENSMUST00000215006]

AlphaFold

Q8K298

Predicted Effect

probably null
Transcript: ENSMUST00000040912

SMART Domains

Protein: ENSMUSP00000045873
Gene: ENSMUSG00000036777

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

Predicted Effect

probably null
Transcript: ENSMUST00000215006

Predicted Effect

probably benign
Transcript: ENSMUST00000216793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217010

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

96% (79/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	T	C	14: 105,736,380 (GRCm39)		noncoding transcript	Het
Abca8b	A	T	11: 109,840,714 (GRCm39)		probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Anpep	T	G	7: 79,485,165 (GRCm39)	Q607P	probably benign	Het
Arl13b	A	C	16: 62,633,640 (GRCm39)		probably null	Het
Asxl3	T	C	18: 22,650,044 (GRCm39)	S678P	probably damaging	Het
Atf6b	C	T	17: 34,866,702 (GRCm39)	Q58*	probably null	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Cfap46	T	A	7: 139,232,726 (GRCm39)	M782L	probably benign	Het
Cngb3	T	C	4: 19,364,260 (GRCm39)	S155P	probably benign	Het
Coro1a	T	C	7: 126,300,719 (GRCm39)	I162V	probably benign	Het
Cry1	T	A	10: 84,982,318 (GRCm39)	I343F	probably damaging	Het
Csnk1e	A	T	15: 79,309,050 (GRCm39)	M292K	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cul9	A	T	17: 46,836,818 (GRCm39)	M1069K	probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dnah11	T	C	12: 117,979,200 (GRCm39)	I2633V	probably damaging	Het
Eif4g3	C	A	4: 137,933,369 (GRCm39)	D1731E	probably damaging	Het
Epb41l4b	T	C	4: 57,032,204 (GRCm39)	T592A	probably benign	Het
Evi5	T	C	5: 107,946,984 (GRCm39)		probably benign	Het
Exo1	T	A	1: 175,728,952 (GRCm39)	M672K	probably benign	Het
Fcho1	T	C	8: 72,163,047 (GRCm39)	S661G	probably damaging	Het
Fnip2	A	G	3: 79,415,475 (GRCm39)	Y188H	possibly damaging	Het
Foxb1	T	C	9: 69,667,293 (GRCm39)	D79G	probably damaging	Het
Fyco1	T	C	9: 123,658,346 (GRCm39)	Y610C	probably damaging	Het
Gm3095	T	A	14: 15,170,441 (GRCm39)	Y97N	probably damaging	Het
Gm3095	C	A	14: 15,170,440 (GRCm39)	N96K	probably damaging	Het
Gmfb	A	T	14: 47,049,237 (GRCm39)	L128*	probably null	Het
Gprc5c	T	A	11: 114,755,220 (GRCm39)	V299D	possibly damaging	Het
Hsfy2	C	T	1: 56,676,388 (GRCm39)	V50I	probably benign	Het
Hspa12b	A	C	2: 130,982,849 (GRCm39)	K236Q	probably benign	Het
Impg2	A	G	16: 56,080,221 (GRCm39)	Y566C	probably damaging	Het
Itpr3	A	C	17: 27,335,581 (GRCm39)		probably null	Het
Kprp	G	A	3: 92,732,783 (GRCm39)	T89I	probably damaging	Het
Lcmt2	T	C	2: 120,969,133 (GRCm39)	E650G	probably damaging	Het
Lrch1	T	C	14: 75,051,144 (GRCm39)	D331G	probably damaging	Het
Mroh9	T	A	1: 162,852,110 (GRCm39)	I860F	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myt1l	A	G	12: 29,877,396 (GRCm39)	D349G	unknown	Het
Ndufs2	T	C	1: 171,073,690 (GRCm39)	T31A	probably benign	Het
Ndufs3	A	T	2: 90,729,016 (GRCm39)	S157T	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Noct	T	A	3: 51,155,251 (GRCm39)	S6R	probably damaging	Het
Npas2	T	A	1: 39,339,808 (GRCm39)	H119Q	probably damaging	Het
Oprl1	A	T	2: 181,360,646 (GRCm39)	Y207F	probably benign	Het
Or2n1e	G	A	17: 38,586,557 (GRCm39)		probably null	Het
Or4c11	A	G	2: 88,695,871 (GRCm39)		probably null	Het
Or8k30	T	G	2: 86,339,193 (GRCm39)	L130R	probably damaging	Het
Palm3	G	T	8: 84,756,291 (GRCm39)	S601I	possibly damaging	Het
Plscr1	T	A	9: 92,148,548 (GRCm39)	C163S	probably damaging	Het
Ptprk	A	T	10: 28,369,166 (GRCm39)	M713L	probably benign	Het
Rdm1	A	G	11: 101,519,217 (GRCm39)	D72G	possibly damaging	Het
Reln	T	C	5: 22,265,366 (GRCm39)	D442G	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Sbno1	T	C	5: 124,542,279 (GRCm39)	Y338C	probably damaging	Het
Seh1l	T	G	18: 67,921,806 (GRCm39)	V222G	probably damaging	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Slc25a18	A	C	6: 120,763,303 (GRCm39)		probably benign	Het
Slc33a1	T	C	3: 63,855,650 (GRCm39)	T332A	possibly damaging	Het
Slc35d3	A	G	10: 19,724,909 (GRCm39)	S316P	probably benign	Het
Spmip7	A	G	11: 11,438,641 (GRCm39)		probably benign	Het
Srrm2	T	A	17: 24,037,906 (GRCm39)		probably benign	Het
Srsf12	C	T	4: 33,230,974 (GRCm39)	S156L	probably damaging	Het
Syce3	A	G	15: 89,274,606 (GRCm39)	M49T	probably benign	Het
Tjp3	T	C	10: 81,112,094 (GRCm39)		probably benign	Het
Tnks	G	T	8: 35,342,430 (GRCm39)	N373K	probably damaging	Het
Togaram1	A	G	12: 65,013,847 (GRCm39)	N366S	possibly damaging	Het
Trpm1	G	A	7: 63,890,283 (GRCm39)	R962H	probably damaging	Het
Trpm6	A	T	19: 18,854,995 (GRCm39)	M1885L	possibly damaging	Het
Tshz3	A	G	7: 36,471,221 (GRCm39)	D1070G	probably damaging	Het
Ush2a	T	C	1: 188,546,421 (GRCm39)	M3399T	probably benign	Het
Utp15	G	A	13: 98,393,695 (GRCm39)	T196I	probably benign	Het
Vmn1r168	T	C	7: 23,240,725 (GRCm39)	I194T	probably benign	Het
Vmn2r73	C	T	7: 85,525,120 (GRCm39)	W9*	probably null	Het
Wdr17	T	C	8: 55,092,930 (GRCm39)	Y1076C	probably damaging	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zbtb46	A	T	2: 181,066,042 (GRCm39)	V36E	possibly damaging	Het
Zfp558	T	C	9: 18,380,579 (GRCm39)	I9M	possibly damaging	Het
Zscan2	T	A	7: 80,525,534 (GRCm39)	Y418*	probably null	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
R0712:Anln	UTSW	9	22,291,594 (GRCm39)	missense	probably benign	0.01
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'- GGCAAAGACCACTCCAGAGCGATA -3'
(R):5'- agcacaCTTAGGAAAGCCAATCTGAAC -3'

Sequencing Primer
(F):5'- tgaggcaggaggaccaag -3'
(R):5'- AGGAAAGCCAATCTGAACTAAATATC -3'

Posted On

2014-04-24