Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Anln'

735323

Institutional Source

Beutler Lab

Gene Symbol

Anln

Ensembl Gene

ENSMUSG00000036777

Gene Name

anillin, actin binding protein

Synonyms

1110037A17Rik, 2900037I21Rik, Scraps

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22332012-22389188 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 22372222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 438 (D438E)

Ref Sequence

ENSEMBL: ENSMUSP00000045873 (fasta)

Gene Model

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

AlphaFold

Q8K298

Predicted Effect

probably damaging
Transcript: ENSMUST00000040912
AA Change: D438E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045873
Gene: ENSMUSG00000036777
AA Change: D438E

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	probably damaging	Het

Other mutations in Anln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Anln	APN	9	22360824	nonsense	probably null
IGL01634:Anln	APN	9	22360475	missense	probably benign	0.00
IGL02145:Anln	APN	9	22338996	splice site	probably null
IGL02296:Anln	APN	9	22372187	missense	possibly damaging	0.67
IGL02352:Anln	APN	9	22368412	missense	probably benign	0.00
IGL02601:Anln	APN	9	22338035	missense	probably damaging	0.99
IGL02821:Anln	APN	9	22358122	missense	possibly damaging	0.55
IGL02863:Anln	APN	9	22376365	missense	probably damaging	1.00
IGL03274:Anln	APN	9	22382269	missense	probably damaging	1.00
R0114:Anln	UTSW	9	22353346	missense	probably damaging	0.99
R0486:Anln	UTSW	9	22352826	missense	probably benign	0.31
R0712:Anln	UTSW	9	22380298	missense	probably benign	0.01
R1618:Anln	UTSW	9	22350918	critical splice donor site	probably null
R1734:Anln	UTSW	9	22350955	missense	possibly damaging	0.71
R1856:Anln	UTSW	9	22353331	missense	probably damaging	1.00
R1999:Anln	UTSW	9	22333052	makesense	probably null
R2073:Anln	UTSW	9	22333168	missense	probably benign	0.45
R2075:Anln	UTSW	9	22333168	missense	probably benign	0.45
R2696:Anln	UTSW	9	22360963	missense	probably benign	0.08
R2943:Anln	UTSW	9	22356046	splice site	probably null
R4278:Anln	UTSW	9	22334000	critical splice donor site	probably null
R4548:Anln	UTSW	9	22362888	missense	possibly damaging	0.80
R4887:Anln	UTSW	9	22380188	missense	possibly damaging	0.46
R4979:Anln	UTSW	9	22376501	missense	probably benign
R5087:Anln	UTSW	9	22375044	missense	possibly damaging	0.61
R5197:Anln	UTSW	9	22352781	critical splice donor site	probably null
R5353:Anln	UTSW	9	22360517	missense	probably damaging	1.00
R5748:Anln	UTSW	9	22337934	missense	probably damaging	0.97
R5863:Anln	UTSW	9	22337984	missense	probably damaging	0.99
R6146:Anln	UTSW	9	22376308	nonsense	probably null
R6152:Anln	UTSW	9	22360507	missense	probably damaging	0.98
R6170:Anln	UTSW	9	22368497	missense	probably benign	0.01
R6261:Anln	UTSW	9	22364046	missense	probably damaging	1.00
R6264:Anln	UTSW	9	22334117	missense	possibly damaging	0.82
R6656:Anln	UTSW	9	22351002	missense	probably damaging	1.00
R6864:Anln	UTSW	9	22382249	missense	probably benign	0.36
R7514:Anln	UTSW	9	22360857	missense	probably damaging	0.96
R7789:Anln	UTSW	9	22352037	missense
R7807:Anln	UTSW	9	22360880	missense	probably damaging	1.00
R7840:Anln	UTSW	9	22362723	missense	probably benign	0.03
R7912:Anln	UTSW	9	22358669	missense	possibly damaging	0.53
R8246:Anln	UTSW	9	22350955	missense	probably benign	0.00
R8720:Anln	UTSW	9	22373277	missense	probably benign	0.00
R8839:Anln	UTSW	9	22356172	missense	probably benign	0.02
R9054:Anln	UTSW	9	22360820	critical splice donor site	probably null
R9094:Anln	UTSW	9	22337987	missense	probably benign	0.03
R9507:Anln	UTSW	9	22362840	missense	probably damaging	1.00
R9683:Anln	UTSW	9	22372240	nonsense	probably null
R9802:Anln	UTSW	9	22334157	missense	probably damaging	0.99
Z1088:Anln	UTSW	9	22362801	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAAATGATGGTGGTCTTCAAAC -3'
(R):5'- ACATCGTACTCTACTTGTGTTGTG -3'

Sequencing Primer
(F):5'- TGTCACCGAAGCACTTGG -3'
(R):5'- GGCTGATCTCAAACTAGCTGATAGC -3'

Posted On

2022-11-14