Mutagenetix > Incidental Mutation

Incidental Mutation 'R5810:Fam53b'

447469

Institutional Source

Beutler Lab

Gene Symbol

Fam53b

Ensembl Gene

ENSMUSG00000030956

Gene Name

family with sequence similarity 53, member B

Synonyms

A930008G19Rik

MMRRC Submission

043395-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132313811-132415615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132361893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 45 (N45I)

Ref Sequence

ENSEMBL: ENSMUSP00000118953 (fasta)

Gene Model

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

AlphaFold

Q8BGR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065371
AA Change: N45I

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

SMART Domains

Protein: ENSMUSP00000070763
Gene: ENSMUSG00000030956
AA Change: N45I

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: N45I

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

SMART Domains

Protein: ENSMUSP00000095608
Gene: ENSMUSG00000030956
AA Change: N45I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106165
AA Change: N45I

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

SMART Domains

Protein: ENSMUSP00000101771
Gene: ENSMUSG00000030956
AA Change: N45I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106166
AA Change: N45I

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

SMART Domains

Protein: ENSMUSP00000101772
Gene: ENSMUSG00000030956
AA Change: N45I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106168
AA Change: N15I

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

SMART Domains

Protein: ENSMUSP00000101774
Gene: ENSMUSG00000030956
AA Change: N15I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106169
AA Change: N45I

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

SMART Domains

Protein: ENSMUSP00000101775
Gene: ENSMUSG00000030956
AA Change: N45I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134946
AA Change: N45I

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

SMART Domains

Protein: ENSMUSP00000118953
Gene: ENSMUSG00000030956
AA Change: N45I

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

0.1508

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,079,631 (GRCm39)	F866L	probably benign	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Actl11	C	T	9: 107,806,420 (GRCm39)	P248S	probably benign	Het
Actr3	A	G	1: 125,344,116 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,974,500 (GRCm39)		probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,005,638 (GRCm39)		probably null	Het
Car13	A	C	3: 14,706,828 (GRCm39)		probably null	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cnnm3	A	G	1: 36,564,280 (GRCm39)	E704G	probably benign	Het
Cyp4f14	T	A	17: 33,125,072 (GRCm39)	I450F	possibly damaging	Het
Ddhd1	G	T	14: 45,840,164 (GRCm39)	T710N	probably damaging	Het
Ddx60	C	T	8: 62,465,422 (GRCm39)	Q1360*	probably null	Het
Dlg5	A	G	14: 24,196,322 (GRCm39)	V1625A	probably damaging	Het
Dst	G	A	1: 34,222,121 (GRCm39)		probably benign	Het
Dyrk2	G	T	10: 118,696,245 (GRCm39)	H338N	probably benign	Het
Epb41l1	A	T	2: 156,341,575 (GRCm39)	I187F	probably damaging	Het
Esd	A	G	14: 74,983,051 (GRCm39)	D221G	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,248,098 (GRCm39)	D1006E	probably benign	Het
Gli3	T	C	13: 15,818,894 (GRCm39)	V232A	probably damaging	Het
Gm28308	C	A	6: 52,190,196 (GRCm39)		probably benign	Het
Gpatch1	G	A	7: 34,994,796 (GRCm39)	A490V	probably benign	Het
Hoxa7	T	C	6: 52,193,004 (GRCm39)	D128G	probably benign	Het
Igdcc4	A	G	9: 65,035,977 (GRCm39)	T751A	probably damaging	Het
Igsf10	G	A	3: 59,226,492 (GRCm39)	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,738,063 (GRCm39)		probably null	Het
Il17re	C	T	6: 113,446,557 (GRCm39)	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,671,124 (GRCm39)		probably benign	Het
Larp7-ps	A	T	4: 92,079,820 (GRCm39)		probably null	Het
Lgals12	T	C	19: 7,584,085 (GRCm39)	D4G	probably benign	Het
Liph	A	T	16: 21,786,860 (GRCm39)	L252Q	probably damaging	Het
Mtg1	T	A	7: 139,725,898 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,982,316 (GRCm39)	L1139P	probably damaging	Het
Ninl	T	C	2: 150,792,088 (GRCm39)	R812G	probably benign	Het
Npm3	A	G	19: 45,736,644 (GRCm39)	I165T	possibly damaging	Het
Or1e22	G	T	11: 73,376,921 (GRCm39)	S243*	probably null	Het
Osbpl9	A	G	4: 108,943,571 (GRCm39)	V231A	probably benign	Het
Pgam2	T	C	11: 5,753,417 (GRCm39)	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,270,897 (GRCm39)	W3219R	probably benign	Het
Procr	A	G	2: 155,593,327 (GRCm39)	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,471,314 (GRCm39)	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,601,222 (GRCm39)	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,003,598 (GRCm39)	C500S	probably damaging	Het
Snrpd2	G	T	7: 18,886,447 (GRCm39)	V77F	probably benign	Het
Sp100	G	A	1: 85,593,006 (GRCm39)	G145D	probably benign	Het
Spg7	G	A	8: 123,821,308 (GRCm39)	E678K	possibly damaging	Het
Ssh1	T	C	5: 114,084,627 (GRCm39)	K538E	probably benign	Het
Sspo	C	T	6: 48,460,832 (GRCm39)	R3356W	probably benign	Het
Stx1a	G	T	5: 135,077,932 (GRCm39)	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,032,380 (GRCm39)	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,264,768 (GRCm39)		probably benign	Het
Tpm2	T	C	4: 43,518,968 (GRCm39)		probably benign	Het
Triobp	T	C	15: 78,852,467 (GRCm39)	C874R	probably benign	Het
Tymp	T	A	15: 89,258,534 (GRCm39)	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,428,597 (GRCm39)	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,897,804 (GRCm39)	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,024,815 (GRCm39)	C589S	probably damaging	Het
Vps13a	T	C	19: 16,643,688 (GRCm39)	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,510 (GRCm39)	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,541,579 (GRCm39)	Y54*	probably null	Het
Zswim9	A	T	7: 12,994,662 (GRCm39)	V498D	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
R1923:Fam53b	UTSW	7	132,317,521 (GRCm39)	missense	probably damaging	0.98
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
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'- CGGCAACTGGACATCTCATC -3'
(R):5'- AGGAAGCTGCATCAAGGACC -3'

Sequencing Primer
(F):5'- CTCATCAGAGAAGGATAGTGACC -3'
(R):5'- TGTGCTTCCAACTGGGCAC -3'

Posted On

2016-12-15