Mutagenetix > Incidental Mutation

Incidental Mutation 'R8445:Fam53c'

654472

Institutional Source

Beutler Lab

Gene Symbol

Fam53c

Ensembl Gene

ENSMUSG00000034300

Gene Name

family with sequence similarity 53, member C

Synonyms

2810012G03Rik

MMRRC Submission

067886-MU

Accession Numbers

Essential gene?

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

Stock #

R8445 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34891959-34906813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34901368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 95 (V95A)

Ref Sequence

ENSEMBL: ENSMUSP00000037034 (fasta)

Gene Model

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

AlphaFold

Q8BXQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000049281
AA Change: V95A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000037034
Gene: ENSMUSG00000034300
AA Change: V95A

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 benign
Transcript: ENSMUST00000097622
AA Change: V95A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095226
Gene: ENSMUSG00000034300
AA Change: V95A

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: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	G	9: 70,674,203 (GRCm39)	S522A	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alg12	C	T	15: 88,698,689 (GRCm39)	R212Q	probably benign	Het
C330018D20Rik	G	A	18: 57,090,962 (GRCm39)	P67L	probably damaging	Het
Col3a1	C	T	1: 45,380,340 (GRCm39)	R955*	probably null	Het
Cyp2j12	T	A	4: 96,021,259 (GRCm39)	I116F	possibly damaging	Het
Cyp4a10	T	A	4: 115,382,791 (GRCm39)	W331R	probably damaging	Het
Dmbt1	T	A	7: 130,692,110 (GRCm39)	Y959N	unknown	Het
Dytn	T	A	1: 63,686,673 (GRCm39)	K332N	probably benign	Het
E130308A19Rik	T	A	4: 59,720,526 (GRCm39)	V686D	probably damaging	Het
Epha8	T	C	4: 136,659,600 (GRCm39)	Y792C	probably benign	Het
Fbxl4	C	A	4: 22,385,983 (GRCm39)	Q197K	probably benign	Het
Fmod	G	A	1: 133,968,736 (GRCm39)	V259I	probably benign	Het
Insrr	T	C	3: 87,720,891 (GRCm39)	S1050P	probably damaging	Het
Itga4	A	G	2: 79,112,125 (GRCm39)	M347V	probably benign	Het
Kdm5d	A	G	Y: 916,874 (GRCm39)	E423G	probably damaging	Het
Klra7	A	T	6: 130,204,078 (GRCm39)	I147N	possibly damaging	Het
Lbx1	T	A	19: 45,222,651 (GRCm39)	K124I	probably damaging	Het
Map4k5	T	A	12: 69,897,741 (GRCm39)	H138L	probably damaging	Het
Mc3r	A	G	2: 172,091,237 (GRCm39)	H153R	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Nfatc4	A	C	14: 56,063,875 (GRCm39)	I121L	possibly damaging	Het
Nipa1	A	T	7: 55,629,466 (GRCm39)	S216T	probably benign	Het
Nlrp4e	A	T	7: 23,039,965 (GRCm39)	I763L	probably benign	Het
Nop2	A	G	6: 125,111,567 (GRCm39)	D100G	probably benign	Het
Or2a52	A	G	6: 43,144,231 (GRCm39)	M80V	probably benign	Het
Or8b12i	T	A	9: 20,082,394 (GRCm39)	I158L	probably benign	Het
Prelid3a	A	G	18: 67,606,848 (GRCm39)	E80G	probably damaging	Het
Prl4a1	T	C	13: 28,205,445 (GRCm39)	S137P	possibly damaging	Het
Rbpms2	C	T	9: 65,558,303 (GRCm39)	A113V	possibly damaging	Het
Rph3a	T	C	5: 121,111,433 (GRCm39)	E49G	probably damaging	Het
Shisa7	A	T	7: 4,839,352 (GRCm39)	M124K	probably benign	Het
Shprh	C	T	10: 11,057,313 (GRCm39)	P1078S	possibly damaging	Het
Slc30a7	C	T	3: 115,800,995 (GRCm39)		probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,612,239 (GRCm39)		probably benign	Het
Smg1	A	C	7: 117,736,200 (GRCm39)	N3563K	possibly damaging	Het
Spata31d1c	G	T	13: 65,180,991 (GRCm39)	S30I	probably damaging	Het
St6galnac6	A	G	2: 32,498,532 (GRCm39)		probably benign	Het
Tcp11l1	C	A	2: 104,512,278 (GRCm39)	E451D	probably benign	Het
Tfpt	G	A	7: 3,623,928 (GRCm39)	P160S	probably damaging	Het
Thbs4	C	A	13: 92,927,349 (GRCm39)	A47S	probably benign	Het
Trpm2	T	C	10: 77,746,086 (GRCm39)	D1482G	probably damaging	Het
Tspyl4	C	T	10: 34,173,742 (GRCm39)	A78V	probably benign	Het
Vmn2r26	A	G	6: 124,002,995 (GRCm39)	N135S	probably damaging	Het
Vmn2r87	A	T	10: 130,313,335 (GRCm39)	V477E	probably damaging	Het
Wdr89	T	C	12: 75,679,636 (GRCm39)	D206G	probably damaging	Het
Zfp623	C	A	15: 75,819,402 (GRCm39)	Y119*	probably null	Het
Zfp879	A	G	11: 50,724,213 (GRCm39)	M281T	probably damaging	Het
Zfp952	T	G	17: 33,222,552 (GRCm39)	F344V	possibly damaging	Het
Zgrf1	T	C	3: 127,379,854 (GRCm39)		probably null	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
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'- ACATTCTGTGGTACAGTAGCTCTTAG -3'
(R):5'- AGGGACTCTGCATCACTCTC -3'

Sequencing Primer
(F):5'- ACAGTAGCTCTTAGAATATGTTAGCC -3'
(R):5'- TGCATCACTCTCCCAGGAG -3'

Posted On

2020-10-20