Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01089:Afap1l2'

53240

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Afap1l2

Ensembl Gene

ENSMUSG00000025083

Gene Name

actin filament associated protein 1-like 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

56912361-57008228 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 56913411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026068] [ENSMUST00000111584] [ENSMUST00000118800] [ENSMUST00000122359]

AlphaFold

Q5DTU0

Predicted Effect

probably benign
Transcript: ENSMUST00000026068

SMART Domains

Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
VWA	49	222	6.9e-35	SMART
EGF	297	332	2.99e-4	SMART
VWA	340	517	1.26e-28	SMART
VWA	528	705	1.55e-37	SMART
EGF	714	747	5e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111584

SMART Domains

Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083

Domain	Start	End	E-Value	Type
Blast:PH	30	153	3e-60	BLAST
low complexity region	160	170	N/A	INTRINSIC
PH	194	291	9.27e-9	SMART
PH	372	467	3.11e-10	SMART
low complexity region	531	543	N/A	INTRINSIC
low complexity region	611	626	N/A	INTRINSIC
coiled coil region	675	772	N/A	INTRINSIC
low complexity region	791	804	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118800

SMART Domains

Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083

Domain	Start	End	E-Value	Type
Blast:PH	12	135	3e-60	BLAST
low complexity region	142	152	N/A	INTRINSIC
PH	176	273	9.27e-9	SMART
PH	354	449	3.11e-10	SMART
low complexity region	513	525	N/A	INTRINSIC
low complexity region	593	608	N/A	INTRINSIC
coiled coil region	657	754	N/A	INTRINSIC
low complexity region	773	786	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000122359

SMART Domains

Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083

Domain	Start	End	E-Value	Type
Blast:PH	1	79	3e-32	BLAST
low complexity region	86	96	N/A	INTRINSIC
PH	120	217	9.27e-9	SMART
PH	298	393	3.11e-10	SMART
low complexity region	457	469	N/A	INTRINSIC
low complexity region	537	552	N/A	INTRINSIC
coiled coil region	601	698	N/A	INTRINSIC
low complexity region	717	730	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,337	E180G	possibly damaging	Het
Actr8	T	C	14: 29,988,335	L353S	probably damaging	Het
Adgrf2	G	A	17: 42,710,158	P592S	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Asnsd1	G	A	1: 53,348,277	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,271	M76T	probably damaging	Het
Clca3b	A	T	3: 144,823,522	V797D	probably benign	Het
Cog2	T	C	8: 124,545,243	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,731,938	Y94F	possibly damaging	Het
D430042O09Rik	A	G	7: 125,795,313	E187G	probably damaging	Het
D630045J12Rik	A	G	6: 38,136,963	S1765P	probably benign	Het
Fam149a	A	G	8: 45,348,527	L519P	possibly damaging	Het
Fam171a2	G	A	11: 102,437,848	A695V	possibly damaging	Het
Fat1	T	A	8: 45,017,857	V1566E	probably damaging	Het
Flvcr1	T	G	1: 191,013,390	N361H	probably damaging	Het
Gm1110	T	C	9: 26,881,860	N540S	probably benign	Het
Kcns3	T	A	12: 11,091,571	T376S	possibly damaging	Het
Krt32	A	G	11: 100,087,779	S150P	probably benign	Het
Lrtm2	C	T	6: 119,320,792	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,020,798	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363		probably null	Het
Olfr338	A	T	2: 36,377,166	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,707,887	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,483,869		probably benign	Het
Plaa	A	G	4: 94,574,047	V531A	probably benign	Het
Psmb2	A	G	4: 126,684,206	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,168,697	V926D	possibly damaging	Het
Rgma	G	T	7: 73,409,714	V189L	possibly damaging	Het
Sbf2	A	T	7: 110,348,962	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,648,281	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,388,881	V896A	probably damaging	Het
Taf2	T	C	15: 55,016,581	M1120V	probably benign	Het
Ugt2b34	C	T	5: 86,906,326	V199I	probably benign	Het
Unc5c	C	A	3: 141,818,202		probably benign	Het
Usp37	G	A	1: 74,493,046	R63*	probably null	Het

Other mutations in Afap1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Afap1l2	APN	19	57002308	splice site	probably benign
IGL01012:Afap1l2	APN	19	56930261	missense	probably damaging	0.98
IGL01150:Afap1l2	APN	19	56930186	missense	probably damaging	0.99
IGL02393:Afap1l2	APN	19	56914440	missense	probably damaging	1.00
IGL02887:Afap1l2	APN	19	56920563	missense	probably damaging	1.00
IGL03060:Afap1l2	APN	19	56914250	nonsense	probably null
R0102:Afap1l2	UTSW	19	56928440	unclassified	probably benign
R0102:Afap1l2	UTSW	19	56928440	unclassified	probably benign
R0282:Afap1l2	UTSW	19	56916221	missense	possibly damaging	0.65
R0388:Afap1l2	UTSW	19	56917242	splice site	probably benign
R0432:Afap1l2	UTSW	19	56917119	splice site	probably benign
R0497:Afap1l2	UTSW	19	56930209	missense	probably benign	0.27
R0578:Afap1l2	UTSW	19	56915782	missense	probably benign	0.04
R0631:Afap1l2	UTSW	19	56916085	missense	probably benign	0.39
R0670:Afap1l2	UTSW	19	56915803	missense	probably damaging	1.00
R1188:Afap1l2	UTSW	19	56925069	missense	probably damaging	0.97
R1236:Afap1l2	UTSW	19	56916472	missense	possibly damaging	0.64
R1274:Afap1l2	UTSW	19	56914563	missense	probably benign	0.02
R1463:Afap1l2	UTSW	19	56930151	missense	probably benign	0.01
R1497:Afap1l2	UTSW	19	56928311	missense	probably benign	0.25
R1597:Afap1l2	UTSW	19	56914449	missense	probably benign	0.14
R1778:Afap1l2	UTSW	19	56916206	missense	possibly damaging	0.68
R1795:Afap1l2	UTSW	19	56928409	missense	probably damaging	1.00
R1991:Afap1l2	UTSW	19	57002267	missense	possibly damaging	0.62
R2113:Afap1l2	UTSW	19	56913389	missense	possibly damaging	0.95
R2242:Afap1l2	UTSW	19	56914468	missense	possibly damaging	0.56
R3429:Afap1l2	UTSW	19	56915806	missense	probably damaging	1.00
R3430:Afap1l2	UTSW	19	56915806	missense	probably damaging	1.00
R3698:Afap1l2	UTSW	19	56916523	missense	possibly damaging	0.69
R4706:Afap1l2	UTSW	19	56937240	missense	possibly damaging	0.76
R4956:Afap1l2	UTSW	19	56943447	missense	probably benign	0.00
R4993:Afap1l2	UTSW	19	56918040	missense	probably damaging	1.00
R5772:Afap1l2	UTSW	19	56922974	missense	probably benign	0.02
R5878:Afap1l2	UTSW	19	56915675	missense	probably benign	0.01
R6194:Afap1l2	UTSW	19	56922951	missense	probably damaging	1.00
R6226:Afap1l2	UTSW	19	56916128	missense	probably benign	0.00
R6334:Afap1l2	UTSW	19	56917976	splice site	probably null
R6439:Afap1l2	UTSW	19	56928386	missense	possibly damaging	0.91
R7332:Afap1l2	UTSW	19	56918121	missense	probably damaging	1.00
R7524:Afap1l2	UTSW	19	56918111	missense	probably damaging	1.00
R7577:Afap1l2	UTSW	19	56944767	missense	probably damaging	1.00
R7696:Afap1l2	UTSW	19	56914486	missense	probably damaging	1.00
R7741:Afap1l2	UTSW	19	56914482	missense	probably damaging	1.00
R7940:Afap1l2	UTSW	19	56914165	missense	probably damaging	0.99
R8221:Afap1l2	UTSW	19	56914392	missense	probably damaging	1.00
R9037:Afap1l2	UTSW	19	56929971	unclassified	probably benign
R9114:Afap1l2	UTSW	19	56917995	missense	probably damaging	1.00
R9201:Afap1l2	UTSW	19	56928256	missense	probably damaging	1.00
R9623:Afap1l2	UTSW	19	56918030	missense	probably damaging	1.00
R9674:Afap1l2	UTSW	19	56933763	missense	probably damaging	0.96
X0062:Afap1l2	UTSW	19	56918033	missense	probably damaging	1.00

Posted On

2013-06-21