Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Fam53a'

365932

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam53a

Ensembl Gene

ENSMUSG00000037339

Gene Name

family with sequence similarity 53, member A

Synonyms

5430419M09Rik, 2410018C17Rik, DNTNP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

33757691-33786979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33765103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 201 (D201G)

Ref Sequence

ENSEMBL: ENSMUSP00000070770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045329] [ENSMUST00000065119] [ENSMUST00000065162] [ENSMUST00000137705] [ENSMUST00000150033] [ENSMUST00000153696] [ENSMUST00000155980]

AlphaFold

E9PV82

Predicted Effect

probably damaging
Transcript: ENSMUST00000045329
AA Change: D201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045539
Gene: ENSMUSG00000037339
AA Change: D201G

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	299	2.2e-113	PFAM
low complexity region	336	356	N/A	INTRINSIC
low complexity region	367	382	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000065119
AA Change: D201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070770
Gene: ENSMUSG00000037339
AA Change: D201G

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	299	2.3e-112	PFAM
low complexity region	336	356	N/A	INTRINSIC
low complexity region	367	382	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000065162
AA Change: D201G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069521
Gene: ENSMUSG00000037339
AA Change: D201G

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	299	3.1e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137705

SMART Domains

Protein: ENSMUSP00000121667
Gene: ENSMUSG00000037339

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	54	4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150033

SMART Domains

Protein: ENSMUSP00000117350
Gene: ENSMUSG00000037339

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	54	4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153696

SMART Domains

Protein: ENSMUSP00000118139
Gene: ENSMUSG00000037339

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	59	3.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155980

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6ap1	A	G	X: 73,340,924 (GRCm39)	D47G	probably benign	Het
Atr	T	C	9: 95,747,314 (GRCm39)	F199L	probably benign	Het
Bivm	C	A	1: 44,182,120 (GRCm39)	H443N	probably benign	Het
Btnl2	A	T	17: 34,580,043 (GRCm39)	H192L	probably benign	Het
Ccdc178	A	T	18: 22,253,775 (GRCm39)	C155S	probably benign	Het
Celsr1	C	A	15: 85,785,673 (GRCm39)	V2934L	probably benign	Het
Celsr3	T	C	9: 108,726,652 (GRCm39)	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,115,579 (GRCm39)	E585V	possibly damaging	Het
Elapor2	T	C	5: 9,511,478 (GRCm39)	Y947H	probably damaging	Het
Eps15l1	A	T	8: 73,138,606 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,051,491 (GRCm39)	T70K	probably damaging	Het
Ext2	A	T	2: 93,534,964 (GRCm39)		probably null	Het
Fam124a	G	A	14: 62,793,368 (GRCm39)		probably null	Het
Fgf14	C	T	14: 124,369,891 (GRCm39)	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,614,623 (GRCm39)	T323S	probably benign	Het
Gemin5	A	T	11: 58,047,556 (GRCm39)	N339K	probably damaging	Het
Golga4	A	G	9: 118,364,522 (GRCm39)	E286G	probably benign	Het
Golga4	A	C	9: 118,363,700 (GRCm39)	K233T	probably damaging	Het
Gosr1	A	G	11: 76,641,732 (GRCm39)		probably benign	Het
Haus8	A	G	8: 71,708,361 (GRCm39)		probably benign	Het
Itgb3bp	T	C	4: 99,690,373 (GRCm39)	T49A	probably null	Het
Ldlrad4	A	G	18: 68,387,585 (GRCm39)	D299G	probably damaging	Het
Lpo	A	G	11: 87,706,004 (GRCm39)	M273T	possibly damaging	Het
Map3k4	T	A	17: 12,491,036 (GRCm39)	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,414,715 (GRCm39)	T2566P	probably benign	Het
Nalcn	T	C	14: 123,536,284 (GRCm39)	E1255G	probably null	Het
Nop56	A	T	2: 130,120,117 (GRCm39)	K157N	probably damaging	Het
Or10g9	C	T	9: 39,912,194 (GRCm39)	E110K	probably benign	Het
Or6c1	A	T	10: 129,517,857 (GRCm39)	Y250*	probably null	Het
Pcdh15	A	G	10: 74,340,648 (GRCm39)		probably benign	Het
Pi4ka	T	C	16: 17,172,074 (GRCm39)	H557R	probably damaging	Het
Plekha4	C	T	7: 45,181,787 (GRCm39)	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,345,192 (GRCm39)		probably benign	Het
Rgmb	C	T	17: 16,027,755 (GRCm39)	M321I	probably benign	Het
Rnf31	T	C	14: 55,833,131 (GRCm39)	S363P	probably benign	Het
Sap18b	T	A	8: 96,552,329 (GRCm39)	M113K	probably benign	Het
Scara3	T	A	14: 66,169,105 (GRCm39)	M171L	probably benign	Het
Slc9a2	T	G	1: 40,781,863 (GRCm39)	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,666,368 (GRCm39)	W180*	probably null	Het
Stat6	T	A	10: 127,482,809 (GRCm39)	M10K	probably benign	Het
Sun1	T	C	5: 139,221,243 (GRCm39)		probably benign	Het
Tead2	T	C	7: 44,869,858 (GRCm39)		probably benign	Het
Tjp1	T	G	7: 64,964,638 (GRCm39)	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,206,411 (GRCm39)	S295P	probably damaging	Het
Ttn	G	A	2: 76,612,756 (GRCm39)	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,711,664 (GRCm39)		probably null	Het
Vmn2r108	T	A	17: 20,691,545 (GRCm39)	H326L	probably benign	Het
Xdh	A	G	17: 74,250,840 (GRCm39)		probably null	Het
Zfp385b	A	G	2: 77,242,403 (GRCm39)	S439P	probably benign	Het
Zfp597	G	A	16: 3,683,805 (GRCm39)	S317L	probably benign	Het
Zfp638	A	G	6: 83,946,214 (GRCm39)	D1081G	probably damaging	Het
Zfp93	C	T	7: 23,974,509 (GRCm39)	H165Y	possibly damaging	Het

Other mutations in Fam53a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00796:Fam53a	APN	5	33,758,171 (GRCm39)	missense	probably benign	0.09
IGL02326:Fam53a	APN	5	33,757,938 (GRCm39)	missense	probably damaging	1.00
IGL02988:Fam53a	UTSW	5	33,764,819 (GRCm39)	missense	probably damaging	1.00
R0054:Fam53a	UTSW	5	33,765,076 (GRCm39)	missense	probably damaging	0.99
R0884:Fam53a	UTSW	5	33,758,160 (GRCm39)	missense	probably benign	0.00
R4601:Fam53a	UTSW	5	33,758,007 (GRCm39)	missense	probably benign	0.00
R4808:Fam53a	UTSW	5	33,765,023 (GRCm39)	missense	probably damaging	1.00
R5311:Fam53a	UTSW	5	33,765,080 (GRCm39)	missense	probably damaging	1.00
R6334:Fam53a	UTSW	5	33,758,219 (GRCm39)	missense	probably damaging	1.00
R6525:Fam53a	UTSW	5	33,765,262 (GRCm39)	missense	probably damaging	0.99
R6645:Fam53a	UTSW	5	33,758,128 (GRCm39)	missense	probably benign
R6681:Fam53a	UTSW	5	33,765,184 (GRCm39)	missense	probably damaging	1.00
R6814:Fam53a	UTSW	5	33,767,829 (GRCm39)	missense	probably benign	0.35
R7542:Fam53a	UTSW	5	33,764,815 (GRCm39)	missense	probably damaging	1.00
R8745:Fam53a	UTSW	5	33,767,781 (GRCm39)	missense	probably damaging	0.96
Z1177:Fam53a	UTSW	5	33,765,161 (GRCm39)	missense	probably benign	0.14

Posted On

2015-12-18