Mutagenetix > Incidental Mutation

Incidental Mutation 'R6645:Fam53a'

526061

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

044766-MU

Accession Numbers

Essential gene?

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

Stock #

R6645 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33757691-33786979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33758128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 332 (Q332K)

Ref Sequence

ENSEMBL: ENSMUSP00000070770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045329] [ENSMUST00000065119] [ENSMUST00000065162] [ENSMUST00000150033]

AlphaFold

E9PV82

Predicted Effect

probably benign
Transcript: ENSMUST00000045329
AA Change: Q332K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045539
Gene: ENSMUSG00000037339
AA Change: Q332K

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 benign
Transcript: ENSMUST00000065119
AA Change: Q332K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070770
Gene: ENSMUSG00000037339
AA Change: Q332K

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 benign
Transcript: ENSMUST00000065162

SMART Domains

Protein: ENSMUSP00000069521
Gene: ENSMUSG00000037339

Domain	Start	End	E-Value	Type
Pfam:FAM53	1	299	3.1e-112	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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anp32e	T	A	3: 95,844,414 (GRCm39)	F95I	probably damaging	Het
Arap1	A	G	7: 101,057,318 (GRCm39)	K628R	possibly damaging	Het
Arid4b	A	T	13: 14,294,737 (GRCm39)	E6D	probably damaging	Het
Atxn10	G	T	15: 85,260,904 (GRCm39)		probably null	Het
Ccdc170	A	G	10: 4,510,974 (GRCm39)	I678V	possibly damaging	Het
Ccdc18	T	A	5: 108,286,796 (GRCm39)	V110D	probably benign	Het
Cep85l	C	T	10: 53,177,768 (GRCm39)	E322K	probably benign	Het
Cilp	A	T	9: 65,186,587 (GRCm39)	Y894F	possibly damaging	Het
Ddx4	A	G	13: 112,777,708 (GRCm39)	S62P	possibly damaging	Het
Dph7	T	C	2: 24,855,663 (GRCm39)	V154A	probably benign	Het
Ephb6	T	C	6: 41,594,206 (GRCm39)	S579P	probably benign	Het
Fancm	A	G	12: 65,152,874 (GRCm39)	D1110G	probably damaging	Het
Fh1	A	T	1: 175,442,442 (GRCm39)	V136E	possibly damaging	Het
Greb1	G	T	12: 16,748,580 (GRCm39)	H1132Q	probably benign	Het
Jph1	A	G	1: 17,161,985 (GRCm39)	S226P	probably damaging	Het
Kbtbd8	C	T	6: 95,103,730 (GRCm39)	R460*	probably null	Het
Lama5	T	A	2: 179,821,463 (GRCm39)	N3059Y	probably damaging	Het
Lipc	G	A	9: 70,711,030 (GRCm39)	T289I	probably damaging	Het
Lrrc2	T	C	9: 110,799,175 (GRCm39)	W241R	probably damaging	Het
Mfn2	T	A	4: 147,979,069 (GRCm39)	I88F	probably damaging	Het
Mms19	G	C	19: 41,943,630 (GRCm39)	N366K	probably benign	Het
Myo15a	A	G	11: 60,368,118 (GRCm39)	T293A	probably benign	Het
Ndfip2	T	A	14: 105,529,707 (GRCm39)	Y179N	probably damaging	Het
Notch4	A	G	17: 34,806,790 (GRCm39)	D1909G	probably benign	Het
Obscn	C	T	11: 58,976,088 (GRCm39)	S2013N	probably damaging	Het
Oca2	G	T	7: 55,964,522 (GRCm39)	A357S	probably benign	Het
Or8b43	T	C	9: 38,360,219 (GRCm39)	L17S	probably damaging	Het
Or8g35	T	A	9: 39,381,562 (GRCm39)	L153F	probably benign	Het
Pde7b	C	A	10: 20,486,312 (GRCm39)		probably null	Het
Ppef2	T	C	5: 92,378,320 (GRCm39)	N625S	probably benign	Het
Prom1	A	T	5: 44,204,856 (GRCm39)	L192Q	probably damaging	Het
Satb2	T	C	1: 56,836,166 (GRCm39)	I542V	possibly damaging	Het
Sgpp2	C	T	1: 78,336,799 (GRCm39)	T59M	probably damaging	Het
Skint6	T	C	4: 112,749,235 (GRCm39)	T782A	possibly damaging	Het
Slc13a4	G	T	6: 35,245,774 (GRCm39)	Q624K	probably benign	Het
Slc9a3	T	A	13: 74,312,291 (GRCm39)	H629Q	probably damaging	Het
Slitrk3	G	T	3: 72,957,194 (GRCm39)	A526E	probably benign	Het
Spata31e2	T	A	1: 26,722,198 (GRCm39)	D994V	probably benign	Het
Sptssa	T	C	12: 54,693,275 (GRCm39)	Y53C	probably damaging	Het
Srsf10	T	C	4: 135,590,874 (GRCm39)	S159P	possibly damaging	Het
Tbce	T	C	13: 14,179,814 (GRCm39)	T341A	probably benign	Het
Tdrd6	A	G	17: 43,935,423 (GRCm39)	L1875P	probably benign	Het
Tkt	G	A	14: 30,292,168 (GRCm39)	G425R	probably damaging	Het
Tmprss7	T	C	16: 45,511,326 (GRCm39)	I17M	possibly damaging	Het
Ttc21b	T	C	2: 66,066,721 (GRCm39)	S311G	probably benign	Het
Ubr5	A	G	15: 38,029,750 (GRCm39)	Y492H	probably damaging	Het
Ush2a	T	C	1: 188,255,528 (GRCm39)	I1535T	probably damaging	Het
Vmn2r17	A	T	5: 109,576,247 (GRCm39)	N373Y	probably damaging	Het
Vmn2r6	A	T	3: 64,464,297 (GRCm39)	V179E	probably damaging	Het
Vps13b	A	G	15: 35,910,451 (GRCm39)	E3405G	probably benign	Het
Wac	A	T	18: 7,973,523 (GRCm39)	Q212H	probably damaging	Het
Washc4	C	T	10: 83,408,059 (GRCm39)	R555*	probably null	Het
Zmat4	G	A	8: 24,287,417 (GRCm39)		probably null	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
R4808:Fam53a	UTSW	5	33,765,023 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTGCTCAGCCAAAGTCAGTTG -3'
(R):5'- TCTAGGCAGGCACAATGTTG -3'

Sequencing Primer
(F):5'- AATCTGCTCCAAGTCCAGGTCG -3'
(R):5'- AGGCACAATGTTGTCTTGCAC -3'

Posted On

2018-06-22