Mutagenetix > Incidental Mutation

Incidental Mutation 'R8500:Fam53c'

658498

Institutional Source

Beutler Lab

Gene Symbol

Fam53c

Ensembl Gene

ENSMUSG00000034300

Gene Name

family with sequence similarity 53, member C

Synonyms

2810012G03Rik

MMRRC Submission

067942-MU

Accession Numbers

Essential gene?

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

Stock #

R8500 (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 G at 34901854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 257 (E257G)

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: E257G

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

SMART Domains

Protein: ENSMUSP00000037034
Gene: ENSMUSG00000034300
AA Change: E257G

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: E257G

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

SMART Domains

Protein: ENSMUSP00000095226
Gene: ENSMUSG00000034300
AA Change: E257G

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,871,836 (GRCm39)	S56N	probably benign	Het
Atg16l2	T	G	7: 100,939,473 (GRCm39)	D542A	probably damaging	Het
Blm	A	G	7: 80,105,032 (GRCm39)	L1412P	probably damaging	Het
Cdc37	T	C	9: 21,052,097 (GRCm39)	D314G	probably damaging	Het
Cela1	T	A	15: 100,573,213 (GRCm39)	M39L	probably benign	Het
Col12a1	T	A	9: 79,517,133 (GRCm39)	D2849V	probably damaging	Het
Fmo9	A	T	1: 166,502,039 (GRCm39)	N144K	probably damaging	Het
Gabrd	T	A	4: 155,470,148 (GRCm39)	M354L	probably benign	Het
Gm5773	A	T	3: 93,680,835 (GRCm39)	D169V	probably benign	Het
Gria2	A	T	3: 80,599,774 (GRCm39)	F703L	probably damaging	Het
Grm3	A	T	5: 9,561,726 (GRCm39)	I708N	probably benign	Het
Hlcs	G	A	16: 94,063,617 (GRCm39)	P481L	possibly damaging	Het
Ifi206	T	C	1: 173,314,311 (GRCm39)	Y43C		Het
Igf2r	A	G	17: 12,928,328 (GRCm39)	L1005P	probably damaging	Het
Ighv2-6-8	T	C	12: 113,759,834 (GRCm39)	N92D	possibly damaging	Het
Invs	A	G	4: 48,422,109 (GRCm39)	K914E	probably damaging	Het
Iqsec3	T	C	6: 121,389,813 (GRCm39)		probably benign	Het
Klra6	T	C	6: 129,999,660 (GRCm39)	T103A	probably benign	Het
Lipo5	C	T	19: 33,441,849 (GRCm39)		probably null	Het
Llgl1	T	C	11: 60,595,809 (GRCm39)		probably null	Het
Lonrf1	T	C	8: 36,698,292 (GRCm39)	E402G	probably benign	Het
Lrp1b	T	A	2: 41,396,791 (GRCm39)	Y311F	probably benign	Het
Lrrc8a	T	A	2: 30,146,208 (GRCm39)	W341R	possibly damaging	Het
Lrriq1	A	G	10: 102,882,016 (GRCm39)	I117T		Het
Mmp9	T	C	2: 164,795,486 (GRCm39)	V668A	possibly damaging	Het
Naip5	A	C	13: 100,359,220 (GRCm39)	M672R	probably damaging	Het
Ncam1	A	T	9: 49,431,445 (GRCm39)	L664Q	probably damaging	Het
Nol4l	T	C	2: 153,278,266 (GRCm39)	D234G	probably damaging	Het
Or5t16	T	C	2: 86,818,822 (GRCm39)	K233E	probably damaging	Het
Oscp1	T	A	4: 125,971,203 (GRCm39)	H170Q	possibly damaging	Het
Pard3	T	A	8: 128,186,784 (GRCm39)	M1021K	probably damaging	Het
Pkd1l2	T	A	8: 117,774,302 (GRCm39)		probably null	Het
Plcxd2	T	C	16: 45,800,949 (GRCm39)	K92E	probably damaging	Het
Ptpdc1	A	T	13: 48,739,759 (GRCm39)	C557*	probably null	Het
Robo2	G	A	16: 73,745,228 (GRCm39)	T849I	probably damaging	Het
Rp1	A	T	1: 4,416,813 (GRCm39)	I1433N	possibly damaging	Het
Scarb1	A	G	5: 125,371,227 (GRCm39)	S282P	probably damaging	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Sf3a1	T	A	11: 4,125,039 (GRCm39)	S357T	probably benign	Het
Sh3glb2	A	T	2: 30,249,216 (GRCm39)	M1K	probably null	Het
Slc1a3	T	C	15: 8,671,853 (GRCm39)	T368A	probably damaging	Het
Slc66a1	A	G	4: 139,027,440 (GRCm39)		probably benign	Het
Taf11	A	T	17: 28,121,594 (GRCm39)	I138N	probably damaging	Het
Tnfaip8l1	C	T	17: 56,478,749 (GRCm39)	A13V	probably damaging	Het
Trav6-2	T	G	14: 52,905,092 (GRCm39)	F38V	probably benign	Het
Vmn2r73	A	G	7: 85,519,638 (GRCm39)	V440A	probably benign	Het
Zfp292	A	G	4: 34,826,691 (GRCm39)		probably null	Het
Zfp429	A	T	13: 67,538,828 (GRCm39)	C205*	probably null	Het
Zfp735	C	G	11: 73,601,811 (GRCm39)	L252V	possibly damaging	Het
Zfyve26	A	T	12: 79,334,454 (GRCm39)	L188Q	probably 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
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
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'- AGCTGTGGACTCCCATCAAG -3'
(R):5'- AAACAGCTTCTGGTCTGCC -3'

Sequencing Primer
(F):5'- AGCCTCAGGTTCCTCCAAG -3'
(R):5'- TGGTCTGCCAGTCCCAC -3'

Posted On

2021-01-18