Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02720:Fam53c'

304951

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam53c

Ensembl Gene

ENSMUSG00000034300

Gene Name

family with sequence similarity 53, member C

Synonyms

2810012G03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL02720

Quality Score

Status

Chromosome

Chromosomal Location

34891959-34906813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34903720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 331 (W331R)

Ref Sequence

ENSEMBL: ENSMUSP00000095226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049281] [ENSMUST00000097622]

AlphaFold

Q8BXQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049281
AA Change: W331R

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

SMART Domains

Protein: ENSMUSP00000037034
Gene: ENSMUSG00000034300
AA Change: W331R

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	307	3.9e-87	PFAM
low complexity region	334	346	N/A	INTRINSIC
low complexity region	348	370	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097622
AA Change: W331R

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

SMART Domains

Protein: ENSMUSP00000095226
Gene: ENSMUSG00000034300
AA Change: W331R

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	307	1.9e-87	PFAM
low complexity region	334	346	N/A	INTRINSIC
low complexity region	348	370	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,122,702 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,726,991 (GRCm39)	S454P	probably damaging	Het
Adh4	A	T	3: 138,124,981 (GRCm39)	I51F	possibly damaging	Het
Amigo2	A	T	15: 97,143,578 (GRCm39)	C281*	probably null	Het
Btn2a2	C	T	13: 23,664,637 (GRCm39)	R307Q	probably benign	Het
C2cd6	T	C	1: 59,090,307 (GRCm39)	I483M	probably damaging	Het
Capn9	T	C	8: 125,327,236 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,744,867 (GRCm39)	K1279E	probably damaging	Het
Cdadc1	T	C	14: 59,823,496 (GRCm39)	Y332C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep112	T	G	11: 108,750,177 (GRCm39)	F893L	probably damaging	Het
Cit	A	G	5: 116,133,511 (GRCm39)	S1867G	probably benign	Het
Clptm1l	T	C	13: 73,762,721 (GRCm39)		probably benign	Het
Cyp4a12b	A	T	4: 115,292,368 (GRCm39)		probably benign	Het
Dlx3	G	T	11: 95,014,470 (GRCm39)	W251L	possibly damaging	Het
Dnah1	C	T	14: 30,984,177 (GRCm39)	V3993M	probably damaging	Het
Efs	A	T	14: 55,157,172 (GRCm39)	Y380N	probably damaging	Het
Gm5414	T	C	15: 101,533,990 (GRCm39)	E331G	probably damaging	Het
Gstcd	A	G	3: 132,777,722 (GRCm39)	V363A	probably benign	Het
Jak1	A	G	4: 101,021,647 (GRCm39)		probably benign	Het
Kifc3	A	G	8: 95,834,993 (GRCm39)	V264A	probably benign	Het
Mapk8ip2	A	G	15: 89,341,785 (GRCm39)	D332G	probably damaging	Het
Nbeal1	G	A	1: 60,323,146 (GRCm39)	E2075K	probably damaging	Het
Opn5	T	G	17: 42,907,517 (GRCm39)	S120R	probably damaging	Het
Or52m2	C	T	7: 102,264,046 (GRCm39)	G50E	probably damaging	Het
Paqr8	C	T	1: 21,005,733 (GRCm39)	Q296*	probably null	Het
Pcsk6	C	T	7: 65,629,995 (GRCm39)	R374*	probably null	Het
Pld1	A	G	3: 28,141,411 (GRCm39)	H469R	probably damaging	Het
Rbl1	A	G	2: 157,041,349 (GRCm39)	S93P	possibly damaging	Het
Reln	C	T	5: 22,202,939 (GRCm39)	R1287Q	probably damaging	Het
Rev3l	C	T	10: 39,698,391 (GRCm39)	R963*	probably null	Het
Serinc4	C	T	2: 121,282,908 (GRCm39)	S418N	probably benign	Het
Slc6a18	A	G	13: 73,818,087 (GRCm39)	M310T	probably benign	Het
Slitrk3	T	A	3: 72,958,101 (GRCm39)	S224C	probably damaging	Het
Slu7	T	C	11: 43,336,030 (GRCm39)	I471T	probably benign	Het
Stxbp5	A	G	10: 9,665,105 (GRCm39)		probably null	Het
Tm7sf3	A	T	6: 146,514,872 (GRCm39)		probably benign	Het
Trem1	C	T	17: 48,539,869 (GRCm39)	S16L	probably benign	Het
Trp53bp2	T	A	1: 182,281,289 (GRCm39)	D963E	probably benign	Het
Trp63	A	T	16: 25,682,491 (GRCm39)	D184V	probably damaging	Het
Ttll6	T	C	11: 96,042,899 (GRCm39)		probably null	Het
Usp32	A	G	11: 84,897,817 (GRCm39)		probably null	Het
Vmn2r14	A	T	5: 109,369,305 (GRCm39)	N89K	probably damaging	Het
Vmn2r76	T	C	7: 85,874,914 (GRCm39)	R688G	probably benign	Het
Vmn2r93	A	T	17: 18,525,296 (GRCm39)	H318L	probably damaging	Het
Vstm4	A	G	14: 32,585,574 (GRCm39)	H47R	probably damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het
Ybx2	T	A	11: 69,831,157 (GRCm39)	S56T	probably benign	Het
Ybx2	C	A	11: 69,831,158 (GRCm39)	S251Y	probably benign	Het
Zbtb3	T	C	19: 8,781,578 (GRCm39)		probably null	Het

Other mutations in Fam53c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
beebee	UTSW	18	34,895,523 (GRCm39)	splice site	probably null
R1235:Fam53c	UTSW	18	34,901,311 (GRCm39)	missense	probably damaging	1.00
R3689:Fam53c	UTSW	18	34,903,886 (GRCm39)	missense	probably damaging	1.00
R4691:Fam53c	UTSW	18	34,901,743 (GRCm39)	missense	probably damaging	1.00
R4692:Fam53c	UTSW	18	34,901,743 (GRCm39)	missense	probably damaging	1.00
R5278:Fam53c	UTSW	18	34,895,671 (GRCm39)	start gained	probably benign
R6118:Fam53c	UTSW	18	34,901,743 (GRCm39)	missense	probably damaging	1.00
R7110:Fam53c	UTSW	18	34,895,523 (GRCm39)	splice site	probably null
R8445:Fam53c	UTSW	18	34,901,368 (GRCm39)	missense	probably benign	0.00
R8500:Fam53c	UTSW	18	34,901,854 (GRCm39)	missense	probably damaging	1.00
R8962:Fam53c	UTSW	18	34,901,229 (GRCm39)	missense	probably damaging	1.00
R9272:Fam53c	UTSW	18	34,895,774 (GRCm39)	missense	probably damaging	0.99
Z1177:Fam53c	UTSW	18	34,903,903 (GRCm39)	nonsense	probably null

Posted On

2015-04-16