Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00858:Afap1l1'

8639

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: 0.055) question?

Stock #

IGL00858

Quality Score

Status

Chromosome

Chromosomal Location

61863333-61919733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61869925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 635 (T635M)

Ref Sequence

ENSEMBL: ENSMUSP00000113286 (fasta)

Gene Model

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

AlphaFold

Q8BZI0

Predicted Effect

probably benign
Transcript: ENSMUST00000120472
AA Change: T635M

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: T635M

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,967,537 (GRCm39)	V988M	probably damaging	Het
B4galnt1	A	G	10: 127,003,633 (GRCm39)	T199A	probably benign	Het
Ccdc183	T	A	2: 25,499,783 (GRCm39)	M378L	probably benign	Het
Ccser1	C	A	6: 61,787,649 (GRCm39)	S134*	probably null	Het
Cluh	A	G	11: 74,550,431 (GRCm39)	K248E	possibly damaging	Het
Cpa6	T	A	1: 10,554,219 (GRCm39)	R129S	probably damaging	Het
Cyp2c29	T	A	19: 39,296,100 (GRCm39)	V138D	probably damaging	Het
Cyp4f14	A	G	17: 33,130,692 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,545,720 (GRCm39)	N841S	possibly damaging	Het
Dtwd2	A	T	18: 49,861,452 (GRCm39)	I98N	probably damaging	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Ifi44	T	A	3: 151,455,217 (GRCm39)	M3L	probably benign	Het
Mtch1	C	T	17: 29,559,430 (GRCm39)	D74N	probably damaging	Het
Nav3	A	G	10: 109,578,493 (GRCm39)	V1588A	probably damaging	Het
Pbk	T	C	14: 66,049,373 (GRCm39)		probably benign	Het
Ptcd1	A	T	5: 145,088,092 (GRCm39)		probably benign	Het
Rapgef4	A	T	2: 72,029,241 (GRCm39)	I438F	probably damaging	Het
Tas2r113	C	A	6: 132,870,115 (GRCm39)	R48S	probably benign	Het
Tektl1	T	C	10: 78,586,403 (GRCm39)	D216G	probably damaging	Het
Tnn	C	T	1: 159,915,962 (GRCm39)		probably null	Het
Tnnt2	G	A	1: 135,779,440 (GRCm39)	V277I	probably damaging	Het
Twnk	G	T	19: 44,996,065 (GRCm39)	W166L	probably benign	Het
Utp20	G	A	10: 88,644,987 (GRCm39)	L580F	possibly damaging	Het
Utp20	T	A	10: 88,645,000 (GRCm39)	E575D	probably benign	Het

Other mutations in Afap1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01643:Afap1l1	APN	18	61,884,897 (GRCm39)	missense	probably damaging	1.00
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

2012-12-06