Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01754:Afap1l1'

153438

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 #

IGL01754

Quality Score

Status

Chromosome

Chromosomal Location

61863333-61919733 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 61870565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113286 (fasta)

Gene Model

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

AlphaFold

Q8BZI0

Predicted Effect

probably null
Transcript: ENSMUST00000120472

SMART Domains

Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184678

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,708,942 (GRCm39)	C294R	probably damaging	Het
Art2a	C	T	7: 101,204,059 (GRCm39)	V160M	probably damaging	Het
Atp8b3	T	C	10: 80,366,795 (GRCm39)		probably null	Het
Cwc22	A	G	2: 77,754,883 (GRCm39)	I231T	probably damaging	Het
Efr3a	C	A	15: 65,726,569 (GRCm39)	A554E	probably damaging	Het
Fads2b	T	C	2: 85,348,899 (GRCm39)	Q71R	probably damaging	Het
Fam3b	T	C	16: 97,277,607 (GRCm39)	T76A	probably benign	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gm4454	T	C	7: 38,268,386 (GRCm39)	T253A	probably damaging	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Igkv5-39	A	G	6: 69,877,661 (GRCm39)	S12P	probably damaging	Het
Itga10	G	A	3: 96,564,091 (GRCm39)		probably benign	Het
Kng1	A	T	16: 22,898,364 (GRCm39)	D407V	probably benign	Het
Lrrd1	A	G	5: 3,901,432 (GRCm39)	D579G	probably damaging	Het
Plcg1	C	A	2: 160,603,353 (GRCm39)	Q1175K	probably damaging	Het
Scml4	T	A	10: 42,833,746 (GRCm39)		probably benign	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc5a4b	A	G	10: 75,906,449 (GRCm39)	L390P	probably damaging	Het
Tectb	A	G	19: 55,172,445 (GRCm39)	Q164R	probably damaging	Het
Trim52	C	T	14: 106,344,623 (GRCm39)	Q94*	probably null	Het
Usp17ld	A	C	7: 102,899,870 (GRCm39)	V354G	probably benign	Het
Usp43	T	C	11: 67,747,007 (GRCm39)	H895R	probably benign	Het
Vmn2r24	T	C	6: 123,781,120 (GRCm39)	L442P	probably 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
IGL01643:Afap1l1	APN	18	61,884,897 (GRCm39)	missense	probably damaging	1.00
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

2014-02-04