Mutagenetix > Incidental Mutation

Incidental Mutation 'R3712:Fam53b'

259665

Institutional Source

Beutler Lab

Gene Symbol

Fam53b

Ensembl Gene

ENSMUSG00000030956

Gene Name

family with sequence similarity 53, member B

Synonyms

A930008G19Rik

MMRRC Submission

040705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3712 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

132313811-132415615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132361654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 125 (S125P)

Ref Sequence

ENSEMBL: ENSMUSP00000101775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065371] [ENSMUST00000097998] [ENSMUST00000097999] [ENSMUST00000106165] [ENSMUST00000106166] [ENSMUST00000106168] [ENSMUST00000106169] [ENSMUST00000124096] [ENSMUST00000134946]

AlphaFold

Q8BGR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065371
AA Change: S125P

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

SMART Domains

Protein: ENSMUSP00000070763
Gene: ENSMUSG00000030956
AA Change: S125P

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: S125P

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

SMART Domains

Protein: ENSMUSP00000095608
Gene: ENSMUSG00000030956
AA Change: S125P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106165
AA Change: S125P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101771
Gene: ENSMUSG00000030956
AA Change: S125P

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	303	4.2e-121	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106166
AA Change: S125P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101772
Gene: ENSMUSG00000030956
AA Change: S125P

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	303	4.2e-121	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106168
AA Change: S95P

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

SMART Domains

Protein: ENSMUSP00000101774
Gene: ENSMUSG00000030956
AA Change: S95P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106169
AA Change: S125P

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

SMART Domains

Protein: ENSMUSP00000101775
Gene: ENSMUSG00000030956
AA Change: S125P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134946

SMART Domains

Protein: ENSMUSP00000118953
Gene: ENSMUSG00000030956

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	65	1e-18	PFAM

Meta Mutation Damage Score

0.0731

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	C	A	16: 88,424,411 (GRCm39)	V27F	unknown	Het
Akr1c20	T	C	13: 4,560,222 (GRCm39)	E152G	probably damaging	Het
Alx4	G	A	2: 93,473,134 (GRCm39)	G44D	possibly damaging	Het
Arhgap31	T	A	16: 38,422,895 (GRCm39)	E1057V	possibly damaging	Het
Arhgef26	A	T	3: 62,331,050 (GRCm39)	D588V	probably damaging	Het
Bag2	T	A	1: 33,785,997 (GRCm39)	E108D	probably benign	Het
Ccdc162	C	T	10: 41,463,375 (GRCm39)	V183I	probably benign	Het
Ccdc83	A	G	7: 89,885,563 (GRCm39)		probably benign	Het
Ccnyl1	G	A	1: 64,753,827 (GRCm39)	E137K	probably damaging	Het
Celsr2	T	C	3: 108,308,155 (GRCm39)	T1849A	probably benign	Het
Cep192	C	A	18: 67,953,400 (GRCm39)	D472E	probably benign	Het
Cep57l1	A	G	10: 41,619,110 (GRCm39)	Y86H	probably damaging	Het
Cep95	G	T	11: 106,702,112 (GRCm39)	E370*	probably null	Het
Cldn10	A	G	14: 119,092,522 (GRCm39)	T41A	probably damaging	Het
Clptm1l	T	A	13: 73,764,157 (GRCm39)	Y426N	probably benign	Het
Dipk1b	T	C	2: 26,522,650 (GRCm39)	L33S	possibly damaging	Het
Eps15	T	C	4: 109,166,374 (GRCm39)	V89A	probably damaging	Het
Fbxo44	A	T	4: 148,240,461 (GRCm39)	W256R	probably benign	Het
Gnl2	T	C	4: 124,940,067 (GRCm39)	V313A	probably damaging	Het
Hyal4	A	G	6: 24,756,513 (GRCm39)	R244G	probably damaging	Het
Irf6	G	T	1: 192,844,931 (GRCm39)	W134L	probably benign	Het
Kcnu1	A	G	8: 26,371,448 (GRCm39)	T286A	probably damaging	Het
Lpcat2	T	C	8: 93,644,798 (GRCm39)	V529A	possibly damaging	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp8	G	T	4: 107,705,499 (GRCm39)	R209L	probably benign	Het
Mgll	T	C	6: 88,741,570 (GRCm39)		probably benign	Het
Mix23	T	C	16: 35,901,775 (GRCm39)		probably null	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or3a1d	A	T	11: 74,238,023 (GRCm39)	I129N	probably damaging	Het
Or5p66	A	T	7: 107,885,663 (GRCm39)	Y223*	probably null	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Orc1	T	C	4: 108,461,218 (GRCm39)	V526A	probably damaging	Het
Pard3b	T	C	1: 62,383,137 (GRCm39)	S744P	probably damaging	Het
Pcnx3	G	A	19: 5,733,367 (GRCm39)	Q155*	probably null	Het
Pcnx3	C	G	19: 5,733,368 (GRCm39)	L1F	probably null	Het
Pdcd11	T	A	19: 47,115,684 (GRCm39)		probably benign	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Pigt	A	G	2: 164,343,565 (GRCm39)	D347G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Rpl7a-ps10	A	G	9: 97,061,926 (GRCm39)	E232G	probably damaging	Het
Rprd2	A	G	3: 95,671,872 (GRCm39)	L1177P	probably damaging	Het
Rrn3	T	A	16: 13,601,959 (GRCm39)	L71*	probably null	Het
Sbspon	A	G	1: 15,962,669 (GRCm39)	C70R	probably damaging	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Son	A	G	16: 91,453,614 (GRCm39)	D787G	probably damaging	Het
Sphkap	C	T	1: 83,254,833 (GRCm39)	S972N	probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Srp14	A	C	2: 118,309,440 (GRCm39)	L58V	probably null	Het
Sun2	A	G	15: 79,612,114 (GRCm39)	S522P	possibly damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trdn	T	C	10: 33,033,162 (GRCm39)	I129T	probably benign	Het
Trpv3	A	G	11: 73,169,780 (GRCm39)	K117R	probably benign	Het
Ubqlnl	A	T	7: 103,798,345 (GRCm39)	I384N	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r59	A	T	7: 5,457,637 (GRCm39)	I41K	probably damaging	Het
Vmn2r125	T	A	4: 156,702,419 (GRCm39)	Y68*	probably null	Het
Zpld1	A	T	16: 55,046,799 (GRCm39)	L390*	probably null	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
R1923:Fam53b	UTSW	7	132,317,521 (GRCm39)	missense	probably damaging	0.98
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'- AGGAAAACTGCTCATGCGAG -3'
(R):5'- AGCATCTGGGAATGTCTGCC -3'

Sequencing Primer
(F):5'- TGGGCTCCAGCTATCACC -3'
(R):5'- ATGTCTGCCTGAAAAGTGTCAG -3'

Posted On

2015-01-23