Mutagenetix > Incidental Mutation

Incidental Mutation 'R6118:Fam53c'

485231

Institutional Source

Beutler Lab

Gene Symbol

Fam53c

Ensembl Gene

ENSMUSG00000034300

Gene Name

family with sequence similarity 53, member C

Synonyms

2810012G03Rik

MMRRC Submission

044267-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R6118 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34891959-34906813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34901743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 220 (E220A)

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: E220A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037034
Gene: ENSMUSG00000034300
AA Change: E220A

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: E220A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095226
Gene: ENSMUSG00000034300
AA Change: E220A

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

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	G	10: 10,307,035 (GRCm39)	K316N	probably damaging	Het
Als2	A	T	1: 59,242,228 (GRCm39)	V609E	possibly damaging	Het
Ank3	A	G	10: 69,830,231 (GRCm39)	I71V	probably damaging	Het
Antxr2	T	A	5: 98,097,060 (GRCm39)	D351V	probably damaging	Het
Arel1	A	G	12: 84,988,713 (GRCm39)	V12A	possibly damaging	Het
Atad1	C	T	19: 32,664,697 (GRCm39)	R239H	possibly damaging	Het
B3galnt2	A	G	13: 14,166,094 (GRCm39)	T330A	probably damaging	Het
Bag6	T	A	17: 35,362,600 (GRCm39)	I636N	probably damaging	Het
C1qtnf6	T	C	15: 78,409,595 (GRCm39)	D84G	probably damaging	Het
Ceacam20	T	C	7: 19,705,654 (GRCm39)	V215A	possibly damaging	Het
Chtf18	C	T	17: 25,938,133 (GRCm39)	D967N	probably damaging	Het
Cntnap2	T	A	6: 47,170,011 (GRCm39)	I1159K	possibly damaging	Het
Col2a1	T	C	15: 97,896,448 (GRCm39)	D67G	unknown	Het
Csde1	T	A	3: 102,962,070 (GRCm39)	V627E	probably benign	Het
Epb41l1	G	A	2: 156,364,397 (GRCm39)	E969K	probably benign	Het
Gabbr2	C	T	4: 46,736,459 (GRCm39)	R474Q	probably damaging	Het
H2bc18	T	A	3: 96,177,267 (GRCm39)	V67E	probably damaging	Het
Hap1	G	T	11: 100,246,620 (GRCm39)	T95N	probably benign	Het
Jmjd1c	A	G	10: 67,075,791 (GRCm39)	K1886R	probably damaging	Het
Kndc1	A	G	7: 139,503,717 (GRCm39)	D1007G	probably damaging	Het
Mcm2	C	T	6: 88,864,818 (GRCm39)	A553T	probably damaging	Het
Memo1	T	C	17: 74,509,302 (GRCm39)	Y239C	possibly damaging	Het
Meox2	GCACCACCACCACCACCACCA	GCACCACCACCACCACCA	12: 37,159,030 (GRCm39)		probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Obsl1	A	G	1: 75,468,722 (GRCm39)		probably benign	Het
Or4c107	T	A	2: 88,789,462 (GRCm39)	Y217*	probably null	Het
Or8k35	T	A	2: 86,424,758 (GRCm39)	H138L	probably benign	Het
Pold3	A	G	7: 99,745,614 (GRCm39)	S180P	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,135 (GRCm39)	S665P	probably benign	Het
Rfc4	A	T	16: 22,939,693 (GRCm39)	S86T	probably damaging	Het
Rfx6	T	A	10: 51,587,962 (GRCm39)	N277K	possibly damaging	Het
Ryr2	C	A	13: 11,807,575 (GRCm39)	V865F	possibly damaging	Het
Skint4	T	A	4: 111,977,019 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,023,669 (GRCm39)	Y249C	probably damaging	Het
Slco1b2	A	G	6: 141,603,236 (GRCm39)	T206A	probably benign	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tbc1d1	C	T	5: 64,441,380 (GRCm39)	L655F	probably damaging	Het
Tpp2	A	T	1: 43,979,306 (GRCm39)	I68F	probably damaging	Het
Trim30c	G	T	7: 104,031,288 (GRCm39)	T509K	probably benign	Het
Zfp827	G	T	8: 79,803,067 (GRCm39)	K546N	possibly damaging	Het

Other mutations in Fam53c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02720:Fam53c	APN	18	34,903,720 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGCTGTGGACTCCCATCAAG -3'
(R):5'- TTTTGCGGGCATCCAGATC -3'

Sequencing Primer
(F):5'- CATCAAGCACCGGGGCAATG -3'
(R):5'- GGCATCCAGATCACAAGGCTG -3'

Posted On

2017-08-16