Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Anln'

599748

Institutional Source

Beutler Lab

Gene Symbol

Anln

Ensembl Gene

ENSMUSG00000036777

Gene Name

anillin, actin binding protein

Synonyms

1110037A17Rik, Scraps, 2900037I21Rik

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22243308-22300484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22263333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 113 (S113P)

Gene Model

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

AlphaFold

Q8K298

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000215006

Predicted Effect

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,175 (GRCm39)	E163K	probably benign	Het
Adam34	T	A	8: 44,105,488 (GRCm39)	R52S	probably benign	Het
Adcy8	A	T	15: 64,743,623 (GRCm39)	C328*	probably null	Het
Ankrd26	G	T	6: 118,504,760 (GRCm39)	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,504,759 (GRCm39)	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,225,535 (GRCm39)	P189T	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Asxl1	C	T	2: 153,241,943 (GRCm39)	T832I	probably benign	Het
Bicd2	C	T	13: 49,533,135 (GRCm39)	R574C	probably damaging	Het
Boll	T	C	1: 55,399,826 (GRCm39)		probably null	Het
Casr	A	G	16: 36,315,653 (GRCm39)	F806L	probably damaging	Het
Casz1	C	A	4: 149,013,863 (GRCm39)	N142K	probably benign	Het
Cbl	C	T	9: 44,074,764 (GRCm39)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,548,096 (GRCm39)	V62D	probably damaging	Het
Chst10	T	C	1: 38,923,532 (GRCm39)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,433,953 (GRCm39)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,352,107 (GRCm39)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,133,399 (GRCm39)	M1K	probably null	Het
Dnajc6	A	T	4: 101,475,729 (GRCm39)	K534M	possibly damaging	Het
Dnase2a	T	C	8: 85,635,505 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,536,930 (GRCm39)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,270,696 (GRCm39)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,529,981 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,670 (GRCm39)	R353*	probably null	Het
Fbn2	T	A	18: 58,172,385 (GRCm39)	D2140V	probably benign	Het
Fgfr1	T	A	8: 26,052,329 (GRCm39)	Y218*	probably null	Het
Fhod1	C	T	8: 106,056,740 (GRCm39)	R1045H	probably damaging	Het
Focad	G	T	4: 88,147,643 (GRCm39)	L427F	unknown	Het
Gbf1	T	A	19: 46,242,441 (GRCm39)	L144M	probably damaging	Het
Glmn	T	G	5: 107,696,941 (GRCm39)	N592T	probably benign	Het
Golgb1	C	G	16: 36,695,761 (GRCm39)	P87A	unknown	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Insyn2b	T	A	11: 34,352,537 (GRCm39)	M193K	probably benign	Het
Itga9	T	G	9: 118,487,564 (GRCm39)	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,268,076 (GRCm39)	D149G	unknown	Het
Lcat	C	T	8: 106,668,857 (GRCm39)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,755,066 (GRCm39)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,796,806 (GRCm39)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,529,360 (GRCm39)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,266 (GRCm39)	V345A	possibly damaging	Het
Mok	T	A	12: 110,778,261 (GRCm39)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,453,650 (GRCm39)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,424,431 (GRCm39)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,326,317 (GRCm39)	S143L	probably benign	Het
Or1af1	C	T	2: 37,109,672 (GRCm39)	T57I	probably benign	Het
Or2j6	A	T	7: 139,980,610 (GRCm39)	Y116*	probably null	Het
Or52d1	T	A	7: 103,756,195 (GRCm39)	S236R	probably damaging	Het
Or7g29	G	T	9: 19,286,361 (GRCm39)	T272K	probably benign	Het
Plbd2	T	C	5: 120,623,819 (GRCm39)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,183,168 (GRCm39)		probably null	Het
Plxnc1	T	A	10: 94,630,339 (GRCm39)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,473,538 (GRCm39)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,402,534 (GRCm39)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,851,399 (GRCm39)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,361,045 (GRCm39)		probably null	Het
Sema3f	T	A	9: 107,582,631 (GRCm39)	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,397,892 (GRCm39)		probably null	Het
Sh3rf3	A	G	10: 58,922,637 (GRCm39)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,077,150 (GRCm39)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,782,296 (GRCm39)		probably benign	Het
Snrnp70	A	T	7: 45,026,045 (GRCm39)	Y441*	probably null	Het
Ssrp1	C	T	2: 84,871,525 (GRCm39)	R316W	probably damaging	Het
Syt10	A	T	15: 89,711,101 (GRCm39)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,188,117 (GRCm39)	L562P		Het
Trim68	T	C	7: 102,333,676 (GRCm39)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,667,920 (GRCm39)	H240L	probably damaging	Het
Tssc4	A	G	7: 142,623,515 (GRCm39)		probably null	Het
Usp7	T	A	16: 8,516,675 (GRCm39)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,600,831 (GRCm39)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,614,079 (GRCm39)	V600F	possibly damaging	Het
Vps13d	C	T	4: 144,826,635 (GRCm39)	V2879M		Het
Vrtn	T	A	12: 84,697,080 (GRCm39)	M610K	probably benign	Het
Xpo4	T	C	14: 57,850,806 (GRCm39)	E366G	probably benign	Het
Zyg11a	G	A	4: 108,040,845 (GRCm39)	P703S	probably damaging	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
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
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'- TCAAATAGCTTAGGTCCACTCACC -3'
(R):5'- GCTATTACTCCAAAGAGACTCCTC -3'

Sequencing Primer
(F):5'- TTAGGTCCACTCACCTGAAGAATG -3'
(R):5'- GAGACTCCTCACATCTATAACTTCAG -3'

Posted On

2019-11-26