Mutagenetix > Incidental Mutation

Incidental Mutation 'R4808:Fam53a'

370822

Institutional Source

Beutler Lab

Gene Symbol

Fam53a

Ensembl Gene

ENSMUSG00000037339

Gene Name

family with sequence similarity 53, member A

Synonyms

5430419M09Rik, 2410018C17Rik, DNTNP

MMRRC Submission

042427-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4808 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33757691-33786979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33765023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 228 (S228P)

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: S228P

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

SMART Domains

Protein: ENSMUSP00000045539
Gene: ENSMUSG00000037339
AA Change: S228P

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: S228P

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

SMART Domains

Protein: ENSMUSP00000070770
Gene: ENSMUSG00000037339
AA Change: S228P

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: S228P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069521
Gene: ENSMUSG00000037339
AA Change: S228P

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

Meta Mutation Damage Score

0.2435

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
Abi3bp	A	G	16: 56,414,879 (GRCm39)	D347G	probably damaging	Het
Adora2a	A	G	10: 75,169,280 (GRCm39)	N248S	probably damaging	Het
Agap3	T	C	5: 24,706,243 (GRCm39)	F836L	probably benign	Het
Arap2	G	A	5: 62,887,984 (GRCm39)	T454M	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atm	A	G	9: 53,356,795 (GRCm39)	S2819P	probably damaging	Het
Atp8b1	A	G	18: 64,694,782 (GRCm39)	F500S	probably benign	Het
Catsper1	G	A	19: 5,394,164 (GRCm39)	D682N	possibly damaging	Het
Chordc1	A	G	9: 18,203,709 (GRCm39)	Y6C	probably damaging	Het
Cped1	A	G	6: 22,088,756 (GRCm39)	K273R	probably damaging	Het
Crat	T	C	2: 30,300,033 (GRCm39)	I116V	probably benign	Het
Cyp26a1	A	G	19: 37,689,573 (GRCm39)	H423R	probably benign	Het
Cyp4f40	A	G	17: 32,893,249 (GRCm39)	E360G	probably benign	Het
D430041D05Rik	A	C	2: 104,031,455 (GRCm39)		probably null	Het
Eif3i	A	T	4: 129,485,857 (GRCm39)	F323I	probably benign	Het
Gm10305	C	T	4: 99,161,481 (GRCm39)		noncoding transcript	Het
Gm7347	C	T	5: 26,259,995 (GRCm39)	R185H	probably benign	Het
Golga2	G	T	2: 32,193,226 (GRCm39)	A441S	probably benign	Het
Gphn	T	A	12: 78,701,654 (GRCm39)	S608T	probably benign	Het
Gramd1b	A	T	9: 40,215,645 (GRCm39)	V620E	possibly damaging	Het
H2bc18	T	G	3: 96,177,329 (GRCm39)	S88A	probably benign	Het
H2-M9	T	C	17: 36,951,684 (GRCm39)	T264A	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Hsd3b6	G	A	3: 98,713,601 (GRCm39)	H233Y	probably damaging	Het
Ighv6-7	T	A	12: 114,419,341 (GRCm39)	R88*	probably null	Het
Jup	C	T	11: 100,269,018 (GRCm39)	R465H	probably damaging	Het
Kif16b	A	T	2: 142,699,278 (GRCm39)	Y101N	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Myocos	T	C	1: 162,484,609 (GRCm39)		probably benign	Het
Nav1	C	T	1: 135,382,942 (GRCm39)	G1197S	probably damaging	Het
Oas1g	T	G	5: 121,017,385 (GRCm39)	K223T	possibly damaging	Het
Oprd1	G	A	4: 131,844,705 (GRCm39)	T101M	probably damaging	Het
Or14c40	A	G	7: 86,313,146 (GRCm39)	D92G	probably benign	Het
Or51g2	T	C	7: 102,623,118 (GRCm39)	H27R	probably damaging	Het
Pcdha7	G	A	18: 37,107,281 (GRCm39)	C102Y	probably damaging	Het
Pcx	T	A	19: 4,670,956 (GRCm39)	S1086T	probably benign	Het
Pde8a	A	G	7: 80,932,679 (GRCm39)	T114A	probably benign	Het
Pias4	A	G	10: 80,991,674 (GRCm39)		probably null	Het
Pkn3	G	A	2: 29,980,093 (GRCm39)	G750E	probably damaging	Het
Pramel5	G	A	4: 143,999,325 (GRCm39)	A254V	probably benign	Het
Ptprq	A	G	10: 107,554,368 (GRCm39)	L119P	probably damaging	Het
Rasgrf2	A	T	13: 92,160,190 (GRCm39)	L395Q	probably damaging	Het
Rbm19	T	C	5: 120,256,839 (GRCm39)	S51P	probably damaging	Het
Rfx5	A	G	3: 94,865,591 (GRCm39)	T297A	probably benign	Het
Scaf1	T	C	7: 44,658,063 (GRCm39)	E272G	probably damaging	Het
Slc24a2	G	T	4: 86,950,475 (GRCm39)	Q396K	probably benign	Het
Slc39a14	T	C	14: 70,553,250 (GRCm39)	I162V	probably damaging	Het
Snap25	A	G	2: 136,612,022 (GRCm39)	D70G	probably damaging	Het
Spata31d1b	C	T	13: 59,863,535 (GRCm39)	P228S	probably benign	Het
Sppl3	T	A	5: 115,221,485 (GRCm39)		probably benign	Het
Sspo	A	G	6: 48,428,095 (GRCm39)	D314G	probably damaging	Het
Steap1	G	T	5: 5,788,829 (GRCm39)		probably benign	Het
Suox	T	A	10: 128,507,758 (GRCm39)	D90V	possibly damaging	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tektl1	A	T	10: 78,588,698 (GRCm39)	D37E	probably benign	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Uap1l1	A	G	2: 25,252,097 (GRCm39)	S473P	probably damaging	Het
Xpo5	T	A	17: 46,546,896 (GRCm39)	N882K	probably benign	Het
Zfp536	A	T	7: 37,178,730 (GRCm39)	C228S	probably 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
IGL02939:Fam53a	APN	5	33,765,103 (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
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

Predicted Primers

PCR Primer
(F):5'- CGTGTCATTTTCAGAAAGTCCAAGG -3'
(R):5'- TACTCTGCAGGGCACTCTAG -3'

Sequencing Primer
(F):5'- CGTGTCCACCTGGCATC -3'
(R):5'- AGGGCACTCTAGTCCCTG -3'

Posted On

2016-02-04