Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01643:Afap1l1'

93593

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Afap1l1

Ensembl Gene

ENSMUSG00000033032

Gene Name

actin filament associated protein 1-like 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL01643

Quality Score

Status

Chromosome

Chromosomal Location

61863333-61919733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61884897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 196 (E196V)

Ref Sequence

ENSEMBL: ENSMUSP00000113286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120472] [ENSMUST00000154876]

AlphaFold

Q8BZI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000120472
AA Change: E196V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: E196V

Domain	Start	End	E-Value	Type
low complexity region	114	123	N/A	INTRINSIC
low complexity region	186	199	N/A	INTRINSIC
PH	221	318	4.13e-6	SMART
PH	419	514	9.41e-10	SMART
coiled coil region	611	701	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147278

Predicted Effect

probably benign
Transcript: ENSMUST00000154876

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,082,414 (GRCm39)	R304Q	probably damaging	Het
Bmp5	A	T	9: 75,746,895 (GRCm39)	D251V	probably damaging	Het
Ccser1	A	G	6: 61,288,839 (GRCm39)	H334R	probably benign	Het
Crnkl1	A	G	2: 145,773,268 (GRCm39)	M126T	probably damaging	Het
Ddrgk1	T	C	2: 130,500,214 (GRCm39)		probably benign	Het
Dpy19l4	T	C	4: 11,290,184 (GRCm39)		probably benign	Het
Eral1	A	G	11: 77,965,104 (GRCm39)		probably null	Het
Ereg	T	A	5: 91,234,637 (GRCm39)	S17T	probably benign	Het
Fgfr1	T	A	8: 26,056,751 (GRCm39)	M280K	probably benign	Het
Gpr65	A	G	12: 98,242,013 (GRCm39)	E222G	probably damaging	Het
Grid1	G	T	14: 35,045,392 (GRCm39)		probably null	Het
Hspa12b	A	G	2: 130,984,617 (GRCm39)	T329A	probably damaging	Het
Inpp4b	A	G	8: 82,798,400 (GRCm39)	I863V	probably damaging	Het
Kash5	A	T	7: 44,849,710 (GRCm39)	M71K	probably damaging	Het
Krt8	G	T	15: 101,905,508 (GRCm39)	S447Y	possibly damaging	Het
Lama2	T	A	10: 26,946,368 (GRCm39)		probably benign	Het
Lama4	A	C	10: 38,932,846 (GRCm39)	N574T	probably benign	Het
Lig3	T	C	11: 82,689,118 (GRCm39)	S791P	probably damaging	Het
Oas2	A	T	5: 120,874,252 (GRCm39)		probably benign	Het
Or4c12b	A	T	2: 89,647,017 (GRCm39)	I116F	probably damaging	Het
Pdk1	A	G	2: 71,728,049 (GRCm39)	D370G	probably damaging	Het
Popdc3	T	A	10: 45,190,976 (GRCm39)	I29N	probably damaging	Het
Rbp3	A	T	14: 33,678,793 (GRCm39)	I914F	probably benign	Het
Rnf207	C	T	4: 152,402,718 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,707,563 (GRCm39)	I2825F	possibly damaging	Het
Slc37a2	A	T	9: 37,146,849 (GRCm39)		probably benign	Het
Vps8	T	C	16: 21,336,972 (GRCm39)	V791A	possibly damaging	Het
Wdr64	T	C	1: 175,599,877 (GRCm39)	L127P	probably damaging	Het
Whrn	T	C	4: 63,334,672 (GRCm39)	T368A	possibly damaging	Het

Other mutations in Afap1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Afap1l1	APN	18	61,869,925 (GRCm39)	missense	probably benign	0.04
IGL01754:Afap1l1	APN	18	61,870,565 (GRCm39)	critical splice donor site	probably null
IGL01945:Afap1l1	APN	18	61,889,934 (GRCm39)	missense	probably benign	0.00
IGL02025:Afap1l1	APN	18	61,866,770 (GRCm39)	splice site	probably benign
IGL02413:Afap1l1	APN	18	61,866,860 (GRCm39)	missense	probably benign	0.00
IGL02418:Afap1l1	APN	18	61,885,648 (GRCm39)	missense	probably damaging	1.00
IGL02493:Afap1l1	APN	18	61,870,594 (GRCm39)	missense	possibly damaging	0.83
IGL02888:Afap1l1	APN	18	61,881,879 (GRCm39)	missense	probably damaging	1.00
IGL03010:Afap1l1	APN	18	61,876,390 (GRCm39)	missense	probably benign	0.01
IGL03122:Afap1l1	APN	18	61,866,902 (GRCm39)	missense	probably benign
IGL03145:Afap1l1	APN	18	61,874,880 (GRCm39)	missense	possibly damaging	0.93
IGL03052:Afap1l1	UTSW	18	61,881,894 (GRCm39)	missense	probably benign	0.00
R0008:Afap1l1	UTSW	18	61,889,976 (GRCm39)	missense	probably benign	0.11
R0008:Afap1l1	UTSW	18	61,889,976 (GRCm39)	missense	probably benign	0.11
R0217:Afap1l1	UTSW	18	61,879,940 (GRCm39)	missense	probably damaging	1.00
R0421:Afap1l1	UTSW	18	61,884,945 (GRCm39)	missense	probably damaging	1.00
R0626:Afap1l1	UTSW	18	61,872,291 (GRCm39)	missense	probably benign	0.07
R0963:Afap1l1	UTSW	18	61,870,001 (GRCm39)	missense	probably damaging	1.00
R1403:Afap1l1	UTSW	18	61,874,909 (GRCm39)	missense	probably damaging	1.00
R1403:Afap1l1	UTSW	18	61,874,909 (GRCm39)	missense	probably damaging	1.00
R1566:Afap1l1	UTSW	18	61,888,714 (GRCm39)	missense	probably benign
R1572:Afap1l1	UTSW	18	61,870,570 (GRCm39)	missense	probably damaging	1.00
R1854:Afap1l1	UTSW	18	61,876,365 (GRCm39)	missense	probably benign
R1992:Afap1l1	UTSW	18	61,874,842 (GRCm39)	nonsense	probably null
R2063:Afap1l1	UTSW	18	61,872,193 (GRCm39)	critical splice donor site	probably null
R2064:Afap1l1	UTSW	18	61,872,193 (GRCm39)	critical splice donor site	probably null
R2065:Afap1l1	UTSW	18	61,872,193 (GRCm39)	critical splice donor site	probably null
R2066:Afap1l1	UTSW	18	61,872,193 (GRCm39)	critical splice donor site	probably null
R4120:Afap1l1	UTSW	18	61,872,243 (GRCm39)	missense	probably damaging	1.00
R4904:Afap1l1	UTSW	18	61,871,786 (GRCm39)	missense	probably benign	0.00
R4997:Afap1l1	UTSW	18	61,884,879 (GRCm39)	missense	probably benign
R5379:Afap1l1	UTSW	18	61,891,721 (GRCm39)	missense	probably damaging	1.00
R5947:Afap1l1	UTSW	18	61,876,771 (GRCm39)	missense	probably damaging	0.98
R6774:Afap1l1	UTSW	18	61,888,732 (GRCm39)	missense	probably benign	0.00
R6814:Afap1l1	UTSW	18	61,866,812 (GRCm39)	missense	probably benign	0.45
R7085:Afap1l1	UTSW	18	61,881,885 (GRCm39)	missense	possibly damaging	0.91
R7325:Afap1l1	UTSW	18	61,869,917 (GRCm39)	missense	probably benign	0.44
R7543:Afap1l1	UTSW	18	61,889,972 (GRCm39)	missense	probably benign	0.01
R7877:Afap1l1	UTSW	18	61,879,853 (GRCm39)	missense	probably damaging	1.00
R8041:Afap1l1	UTSW	18	61,891,754 (GRCm39)	missense	probably damaging	1.00
R8253:Afap1l1	UTSW	18	61,874,702 (GRCm39)	missense	probably benign	0.43
R8913:Afap1l1	UTSW	18	61,889,910 (GRCm39)	critical splice donor site	probably null
R9443:Afap1l1	UTSW	18	61,879,859 (GRCm39)	missense	probably damaging	1.00
R9521:Afap1l1	UTSW	18	61,879,863 (GRCm39)	missense	probably benign
R9633:Afap1l1	UTSW	18	61,890,795 (GRCm39)	missense	possibly damaging	0.62
R9652:Afap1l1	UTSW	18	61,876,432 (GRCm39)	missense	probably damaging	1.00
R9792:Afap1l1	UTSW	18	61,874,822 (GRCm39)	missense	possibly damaging	0.94
R9793:Afap1l1	UTSW	18	61,874,822 (GRCm39)	missense	possibly damaging	0.94
R9795:Afap1l1	UTSW	18	61,874,822 (GRCm39)	missense	possibly damaging	0.94
Z1177:Afap1l1	UTSW	18	61,885,579 (GRCm39)	critical splice donor site	probably null

Posted On

2013-12-09