Mutagenetix > Incidental Mutation

Incidental Mutation 'R1923:Fam53b'

213220

Institutional Source

Beutler Lab

Gene Symbol

Fam53b

Ensembl Gene

ENSMUSG00000030956

Gene Name

family with sequence similarity 53, member B

Synonyms

A930008G19Rik

MMRRC Submission

039941-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132313811-132415615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132317521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 374 (S374P)

Ref Sequence

ENSEMBL: ENSMUSP00000101775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065371] [ENSMUST00000097998] [ENSMUST00000097999] [ENSMUST00000106168] [ENSMUST00000106169] [ENSMUST00000124096]

AlphaFold

Q8BGR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065371
AA Change: S374P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070763
Gene: ENSMUSG00000030956
AA Change: S374P

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	303	6.4e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097998

SMART Domains

Protein: ENSMUSP00000095607
Gene: ENSMUSG00000030956

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	57	1.3e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097999
AA Change: S374P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095608
Gene: ENSMUSG00000030956
AA Change: S374P

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	303	6.4e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106168
AA Change: S344P

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101774
Gene: ENSMUSG00000030956
AA Change: S344P

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	273	1.2e-112	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106169
AA Change: S374P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101775
Gene: ENSMUSG00000030956
AA Change: S374P

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	303	2.3e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Meta Mutation Damage Score

0.0912

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,743 (GRCm39)	E163G	probably damaging	Het
4921513D11Rik	A	G	17: 79,935,562 (GRCm39)		probably benign	Het
Acox3	T	A	5: 35,749,459 (GRCm39)	F195I	possibly damaging	Het
Acsl6	T	C	11: 54,216,417 (GRCm39)	Y135H	probably damaging	Het
Ankhd1	C	A	18: 36,781,083 (GRCm39)	A2045E	probably benign	Het
Ap5z1	A	G	5: 142,458,096 (GRCm39)	H423R	probably benign	Het
Arsk	T	A	13: 76,214,985 (GRCm39)		probably benign	Het
Bpi	G	A	2: 158,103,083 (GRCm39)	G76D	probably damaging	Het
Carmil3	A	G	14: 55,739,861 (GRCm39)	T983A	probably damaging	Het
Ccdc192	A	T	18: 57,666,959 (GRCm39)	D12V	probably damaging	Het
Chmp2b	A	T	16: 65,342,213 (GRCm39)	M125K	possibly damaging	Het
Clca3a2	T	A	3: 144,511,491 (GRCm39)	I26L	probably damaging	Het
Cubn	T	C	2: 13,315,337 (GRCm39)	Y3032C	probably damaging	Het
Ehbp1	T	A	11: 22,101,850 (GRCm39)	D226V	probably damaging	Het
Enpp6	A	T	8: 47,535,541 (GRCm39)	D362V	probably damaging	Het
Fmn1	T	C	2: 113,260,066 (GRCm39)		probably benign	Het
Fndc7	C	T	3: 108,784,003 (GRCm39)	R202H	probably benign	Het
Frmd4b	T	G	6: 97,265,415 (GRCm39)	D951A	probably benign	Het
Git2	A	G	5: 114,877,162 (GRCm39)	Y107H	probably damaging	Het
Gm11595	A	T	11: 99,663,365 (GRCm39)	V105E	unknown	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrriq4	C	A	3: 30,713,242 (GRCm39)	Q448K	probably benign	Het
Ly6g5c	A	G	17: 35,330,863 (GRCm39)	I128M	possibly damaging	Het
Mroh9	T	A	1: 162,903,860 (GRCm39)	S51C	probably damaging	Het
Myh3	A	G	11: 66,970,828 (GRCm39)	S2G	probably benign	Het
Nat8f4	A	G	6: 85,878,497 (GRCm39)	Y9H	probably damaging	Het
Negr1	T	C	3: 156,267,836 (GRCm39)	V2A	probably benign	Het
Or2y1	C	T	11: 49,386,131 (GRCm39)	T257I	probably damaging	Het
Or7g19	C	T	9: 18,856,781 (GRCm39)	T279I	probably benign	Het
Or8k32	T	G	2: 86,368,857 (GRCm39)	Y132S	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pdgfra	C	A	5: 75,324,394 (GRCm39)	T83K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Retreg1	A	G	15: 25,969,924 (GRCm39)	D109G	probably damaging	Het
Rgs12	T	A	5: 35,189,613 (GRCm39)	W674R	probably damaging	Het
Rgs18	T	C	1: 144,631,818 (GRCm39)	D98G	possibly damaging	Het
Rnf146	A	G	10: 29,223,715 (GRCm39)	F57S	probably damaging	Het
Skic3	T	A	13: 76,282,889 (GRCm39)	V737D	probably damaging	Het
Slc22a20	C	A	19: 6,021,464 (GRCm39)	V513L	probably benign	Het
Stox2	G	T	8: 47,646,661 (GRCm39)	F266L	probably damaging	Het
Tbx21	C	T	11: 96,990,863 (GRCm39)	V272M	probably damaging	Het
Tmc7	A	G	7: 118,144,850 (GRCm39)	F570S	probably benign	Het
Tmem236	T	C	2: 14,224,117 (GRCm39)	I302T	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm3	T	C	19: 22,862,776 (GRCm39)	L506S	probably damaging	Het
Uggt1	T	C	1: 36,218,694 (GRCm39)	I78V	probably damaging	Het
Xpo4	A	T	14: 57,828,328 (GRCm39)	V844D	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het

Other mutations in Fam53b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Fam53b	APN	7	132,317,511 (GRCm39)	missense	probably damaging	0.99
PIT4402001:Fam53b	UTSW	7	132,361,746 (GRCm39)	missense	probably damaging	1.00
R3712:Fam53b	UTSW	7	132,361,654 (GRCm39)	missense	probably damaging	1.00
R5000:Fam53b	UTSW	7	132,317,730 (GRCm39)	missense	probably benign	0.43
R5102:Fam53b	UTSW	7	132,317,684 (GRCm39)	nonsense	probably null
R5122:Fam53b	UTSW	7	132,380,991 (GRCm39)	start gained	probably benign
R5700:Fam53b	UTSW	7	132,361,749 (GRCm39)	missense	probably damaging	1.00
R5810:Fam53b	UTSW	7	132,361,893 (GRCm39)	missense	probably damaging	1.00
R6186:Fam53b	UTSW	7	132,317,445 (GRCm39)	missense	possibly damaging	0.55
R7075:Fam53b	UTSW	7	132,361,352 (GRCm39)	missense	probably damaging	0.98
R7125:Fam53b	UTSW	7	132,373,357 (GRCm39)	missense	probably damaging	1.00
R7286:Fam53b	UTSW	7	132,361,390 (GRCm39)	missense	possibly damaging	0.96
R8141:Fam53b	UTSW	7	132,361,758 (GRCm39)	missense	probably damaging	1.00
R9502:Fam53b	UTSW	7	132,361,740 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACCTAAGGCCTAGAGGAGTG -3'
(R):5'- ACTGTCAGACCTTCAGCAGC -3'

Sequencing Primer
(F):5'- TGCCTCCTCCCCAGGTCAG -3'
(R):5'- AGCCTCAGTTGCCTGAACATG -3'

Posted On

2014-07-14