Mutagenetix > Incidental Mutations

Incidental Mutation 'R7807:Anln'

600867

Institutional Source

Beutler Lab

Gene Symbol

Anln

Ensembl Gene

ENSMUSG00000036777

Gene Name

anillin, actin binding protein

Synonyms

1110037A17Rik, 2900037I21Rik, Scraps

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22332012-22389188 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22360880 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 648 (V648F)

Ref Sequence

ENSEMBL: ENSMUSP00000045873 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040912
AA Change: V648F

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

SMART Domains

Protein: ENSMUSP00000045873
Gene: ENSMUSG00000036777
AA Change: V648F

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: ENSMUST00000216793

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,710,865	K1092E	probably damaging	Het
AB124611	C	A	9: 21,535,980	T146K	probably benign	Het
Alms1	T	A	6: 85,622,976	S1595T	possibly damaging	Het
Ankrd44	A	T	1: 54,792,476	I56N	probably damaging	Het
Arhgap29	A	G	3: 122,014,332	D1053G	probably benign	Het
Baalc	T	C	15: 38,934,017	S68P	probably benign	Het
Begain	T	C	12: 109,038,930	D52G	probably damaging	Het
Blmh	A	G	11: 76,946,214	I41V	probably benign	Het
Bpifc	T	A	10: 85,976,250	I365F	possibly damaging	Het
C2	G	T	17: 34,876,371	S199R	possibly damaging	Het
Ccbe1	T	A	18: 66,066,757	H298L	probably damaging	Het
Ccdc112	T	A	18: 46,290,759	K304I	probably damaging	Het
Ccdc15	T	C	9: 37,315,382	E432G	probably benign	Het
Cdh13	T	A	8: 118,283,855	M1K	probably null	Het
Cipc	T	C	12: 86,962,125	S253P	possibly damaging	Het
Clcn1	A	G	6: 42,310,348		probably null	Het
Clock	A	T	5: 76,243,135	N273K	probably benign	Het
Cyp19a1	T	C	9: 54,166,842	D476G	probably benign	Het
Dnah7b	A	G	1: 46,214,367	I1811V	probably benign	Het
Fat1	C	A	8: 45,041,973	T4091K	probably damaging	Het
Gm10340	T	A	14: 3,134,925	N64K	probably damaging	Het
Gm12394	A	C	4: 42,793,885	H82Q	probably benign	Het
Hectd1	G	A	12: 51,745,388	R2523C	probably damaging	Het
Hgf	A	G	5: 16,577,011	H244R	probably damaging	Het
Hgs	G	T	11: 120,479,934	A567S	probably damaging	Het
Igdcc4	T	C	9: 65,133,795	V1036A	probably benign	Het
Keg1	G	A	19: 12,714,634		probably null	Het
Klhl8	A	T	5: 103,876,066	L156Q	probably damaging	Het
Lmln	T	C	16: 33,107,131	Y521H	probably benign	Het
Lrrc7	A	G	3: 158,160,487	S1206P	probably damaging	Het
Mad1l1	T	A	5: 140,088,786	I550F	probably benign	Het
Marf1	C	T	16: 14,153,889	W28*	probably null	Het
Mfsd11	T	G	11: 116,863,907	S215A	probably benign	Het
Mpped2	C	A	2: 106,744,740	H57N	possibly damaging	Het
Mslnl	A	G	17: 25,746,777	M542V	probably benign	Het
Myh6	G	T	14: 54,942,440	H1903Q	probably damaging	Het
Neo1	T	C	9: 58,990,494	T60A	probably benign	Het
Npm2	T	A	14: 70,652,507		probably null	Het
Olfr1165-ps	T	C	2: 88,101,565	S141G	probably benign	Het
Olfr1355	T	A	10: 78,879,209	S12R	probably benign	Het
Olfr1487	C	A	19: 13,619,921	T210K	probably damaging	Het
Pax9	A	T	12: 56,697,065	I166F	possibly damaging	Het
Pcsk9	A	G	4: 106,463,895	S6P	possibly damaging	Het
Pikfyve	A	G	1: 65,269,942	Y1893C	probably damaging	Het
Pirb	T	C	7: 3,719,865	T43A	possibly damaging	Het
Pou3f1	A	G	4: 124,658,281	D192G	possibly damaging	Het
Pus3	C	G	9: 35,566,725	R418G	probably damaging	Het
Rexo1	C	T	10: 80,550,136	V363I	probably benign	Het
Sdcbp	A	G	4: 6,393,688	T269A	probably damaging	Het
Sele	T	C	1: 164,053,893	V523A	probably benign	Het
Serpinb8	T	A	1: 107,604,727	M183K	probably damaging	Het
Sh2d4a	T	G	8: 68,282,381	S51A	probably benign	Het
Siglec15	A	G	18: 78,047,481	S201P	probably damaging	Het
Slc10a5	C	T	3: 10,335,469	V44I	probably benign	Het
Slc16a13	A	G	11: 70,220,562	V39A	probably damaging	Het
Slc25a13	G	A	6: 6,117,164	R184W	probably damaging	Het
Slc35f5	T	A	1: 125,584,541	D359E	probably damaging	Het
Slc3a1	A	G	17: 85,063,943	E641G	probably benign	Het
Slf1	T	C	13: 77,046,704	D834G	probably damaging	Het
Stim1	T	C	7: 102,427,141	I433T	probably damaging	Het
Stra6	T	A	9: 58,150,161	I418K	probably damaging	Het
Tanc2	A	G	11: 105,867,654	N747S	probably benign	Het
Tet2	T	C	3: 133,486,541	T711A	possibly damaging	Het
Trpm6	T	C	19: 18,829,856	I988T	probably benign	Het
Ttc41	T	A	10: 86,776,631	I1256N	probably benign	Het
Uba2	T	C	7: 34,163,213	D100G	possibly damaging	Het
Vmn1r43	A	G	6: 89,870,237	I89T	probably benign	Het
Vmn2r58	T	A	7: 41,872,486	Y62F	probably benign	Het
Ylpm1	C	T	12: 85,014,081	Q428*	probably null	Het
Zcrb1	T	C	15: 93,391,121	D88G	probably damaging	Het
Zmym1	A	C	4: 127,047,874	I907S	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
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
Z1088:Anln	UTSW	9	22362801	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACTGCACTCAATGGCTG -3'
(R):5'- ACATGTCTGTAGCCCTCGTG -3'

Sequencing Primer
(F):5'- AATGGCTGACCTCCTGCTTGG -3'
(R):5'- TCGTGCCAGCAAGTTCTG -3'

Posted On

2019-11-26