Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00591:Faap20'

332732

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Faap20

Ensembl Gene

ENSMUSG00000073684

Gene Name

Fanconi anemia core complex associated protein 20

Synonyms

2610002J02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00591

Quality Score

Status

Chromosome

Chromosomal Location

155334259-155341144 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155335067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 56 (N56S)

Ref Sequence

ENSEMBL: ENSMUSP00000137116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097747] [ENSMUST00000105627] [ENSMUST00000148406] [ENSMUST00000178473]

AlphaFold

Q3UN58

Predicted Effect

probably benign
Transcript: ENSMUST00000097747
AA Change: N46S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095354
Gene: ENSMUSG00000073684
AA Change: N46S

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105627
AA Change: N43S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101252
Gene: ENSMUSG00000073684
AA Change: N43S

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126803

Predicted Effect

unknown
Transcript: ENSMUST00000143709
AA Change: N29S

SMART Domains

Protein: ENSMUSP00000121522
Gene: ENSMUSG00000073684
AA Change: N29S

Domain	Start	End	E-Value	Type
Pfam:FANCA_interact	8	119	2.9e-46	PFAM
Pfam:UBZ_FAAP20	124	158	2.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148406

Predicted Effect

probably benign
Transcript: ENSMUST00000178473
AA Change: N56S

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137116
Gene: ENSMUSG00000073684
AA Change: N56S

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
Pfam:FANCA_interact	34	145	6.1e-45	PFAM
Pfam:UBZ_FAAP20	150	184	3e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156404

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice show seminiferous tubule and ovarian follicle degeneration, small litter sizes, and increased sensitivity to DNA crosslinkers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Csmd3	C	T	15: 47,868,279 (GRCm39)	C747Y	probably damaging	Het
Elk3	T	C	10: 93,120,689 (GRCm39)	N50S	probably damaging	Het
Esyt2	T	A	12: 116,327,064 (GRCm39)	L544H	probably damaging	Het
Fnd3c2	T	A	X: 105,279,597 (GRCm39)	Y845F	probably damaging	Het
Gm1110	C	A	9: 26,792,170 (GRCm39)	E617*	probably null	Het
Gpbp1	T	C	13: 111,577,284 (GRCm39)	D202G	probably damaging	Het
Hecw1	C	T	13: 14,440,565 (GRCm39)	G1242R	possibly damaging	Het
Iqce	A	T	5: 140,663,883 (GRCm39)	L132*	probably null	Het
Mthfd1	C	A	12: 76,347,213 (GRCm39)	P550Q	possibly damaging	Het
Pabpc6	C	T	17: 9,887,427 (GRCm39)	V375I	possibly damaging	Het
Sh2d4b	G	T	14: 40,594,490 (GRCm39)	F163L	probably benign	Het
Sp140	G	A	1: 85,549,393 (GRCm39)	R208K	probably benign	Het
Vps13d	T	C	4: 144,917,129 (GRCm39)	T12A	possibly damaging	Het
Xkr8	A	T	4: 132,455,357 (GRCm39)	Y339N	probably damaging	Het
Zfp108	A	G	7: 23,960,911 (GRCm39)	K501E	possibly damaging	Het

Other mutations in Faap20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01887:Faap20	APN	4	155,340,657 (GRCm39)	missense	probably damaging	0.98
R2251:Faap20	UTSW	4	155,335,010 (GRCm39)	missense	possibly damaging	0.63
R2252:Faap20	UTSW	4	155,335,010 (GRCm39)	missense	possibly damaging	0.63
R5985:Faap20	UTSW	4	155,334,797 (GRCm39)	intron	probably benign
R7502:Faap20	UTSW	4	155,334,793 (GRCm39)	missense
R9026:Faap20	UTSW	4	155,335,426 (GRCm39)	missense	probably benign	0.25

Posted On

2015-08-05