Mutagenetix > Incidental Mutation

Incidental Mutation 'R6525:Fam53a'

521690

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

044651-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6525 (G1)

Quality Score

139.008

Status

Validated

Chromosome

Chromosomal Location

33757691-33786979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33765262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 148 (N148S)

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: N148S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045539
Gene: ENSMUSG00000037339
AA Change: N148S

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: N148S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070770
Gene: ENSMUSG00000037339
AA Change: N148S

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

possibly damaging
Transcript: ENSMUST00000065162
AA Change: N148S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069521
Gene: ENSMUSG00000037339
AA Change: N148S

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.0%

Validation Efficiency

96% (71/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,931,308 (GRCm39)	E1447G	probably benign	Het
Acss2	A	G	2: 155,392,337 (GRCm39)	N261S	probably benign	Het
Adcy8	C	A	15: 64,609,243 (GRCm39)	G859*	probably null	Het
Agbl3	A	T	6: 34,780,529 (GRCm39)	K496*	probably null	Het
Antxrl	A	T	14: 33,782,363 (GRCm39)	D182V	probably damaging	Het
Arid5b	A	G	10: 67,933,496 (GRCm39)	L559P	possibly damaging	Het
Azi2	T	A	9: 117,876,663 (GRCm39)	S60T	probably damaging	Het
Bahcc1	T	C	11: 120,176,048 (GRCm39)	Y1931H	probably damaging	Het
Cnga1	T	A	5: 72,775,574 (GRCm39)	E49V	probably damaging	Het
Col3a1	A	G	1: 45,386,339 (GRCm39)	N160D	possibly damaging	Het
Crem	C	A	18: 3,268,070 (GRCm39)	R267L	probably damaging	Het
Ddx52	T	C	11: 83,844,145 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,534,926 (GRCm39)	I127T	probably damaging	Het
Dop1b	T	A	16: 93,606,304 (GRCm39)	Y2094N	probably damaging	Het
Dst	C	A	1: 34,202,216 (GRCm39)	N181K	probably damaging	Het
Dusp7	A	G	9: 106,246,483 (GRCm39)	K163E	possibly damaging	Het
Dynlt1a	T	A	17: 6,362,014 (GRCm39)	T55S	probably benign	Het
Enpp2	T	C	15: 54,733,607 (GRCm39)	N451S	probably benign	Het
Faap100	C	A	11: 120,269,590 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,174,626 (GRCm39)	D2029G	probably damaging	Het
Flcn	A	T	11: 59,684,998 (GRCm39)	N484K	possibly damaging	Het
Gbp10	T	A	5: 105,383,950 (GRCm39)	E17D	probably benign	Het
Gm14226	T	C	2: 154,867,003 (GRCm39)	V320A	possibly damaging	Het
Gna13	T	C	11: 109,286,765 (GRCm39)	I196T	probably damaging	Het
Gorasp1	G	T	9: 119,757,061 (GRCm39)	P374T	possibly damaging	Het
Hc	T	C	2: 34,881,236 (GRCm39)	D1461G	probably benign	Het
Hmcn1	T	C	1: 150,573,317 (GRCm39)	N2111D	probably damaging	Het
Hs3st3b1	G	A	11: 63,812,424 (GRCm39)	S97L	probably benign	Het
Hsdl2	A	G	4: 59,612,696 (GRCm39)	T296A	probably damaging	Het
Impg2	A	G	16: 56,025,512 (GRCm39)	D48G	probably damaging	Het
Kbtbd12	A	T	6: 88,591,062 (GRCm39)	N383K	probably benign	Het
Kcnj12	T	G	11: 60,960,397 (GRCm39)	F232V	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Homo
Ldhb	T	C	6: 142,436,191 (GRCm39)	D326G	probably benign	Het
Lrrc49	A	G	9: 60,505,432 (GRCm39)	L607S	probably damaging	Het
Ltn1	A	G	16: 87,217,074 (GRCm39)	S388P	probably damaging	Het
Mansc4	A	G	6: 146,976,645 (GRCm39)	S324P	probably benign	Het
Meltf	G	A	16: 31,707,717 (GRCm39)	W368*	probably null	Het
Nacad	A	G	11: 6,552,255 (GRCm39)	L312P	probably damaging	Het
Ndc1	G	T	4: 107,225,304 (GRCm39)	G7W	probably benign	Het
Nmral1	T	A	16: 4,532,296 (GRCm39)	K172*	probably null	Het
Nol9	G	T	4: 152,123,906 (GRCm39)	R32L	probably damaging	Het
Nsun5	A	G	5: 135,403,912 (GRCm39)	Y296C	probably damaging	Het
Or4k51	C	T	2: 111,585,329 (GRCm39)	T245I	probably benign	Het
Oscp1	A	G	4: 125,970,571 (GRCm39)	D120G	possibly damaging	Het
Parp14	C	T	16: 35,680,811 (GRCm39)	C274Y	probably benign	Het
Pced1b	T	A	15: 97,282,679 (GRCm39)	H239Q	possibly damaging	Het
Pgap1	T	C	1: 54,521,048 (GRCm39)	I865V	probably benign	Het
Ppp6r3	T	A	19: 3,543,936 (GRCm39)	S360C	probably damaging	Het
Prb1a	A	G	6: 132,184,467 (GRCm39)	S389P	unknown	Het
Prr16	T	G	18: 51,436,227 (GRCm39)	S235R	probably benign	Het
Rab11fip1	T	C	8: 27,646,527 (GRCm39)	N183S	probably benign	Het
Rcn1	A	G	2: 105,219,320 (GRCm39)		probably null	Het
Rimkla	C	A	4: 119,325,288 (GRCm39)	A374S	probably benign	Het
Skint8	A	T	4: 111,785,935 (GRCm39)	D127V	probably damaging	Het
Slc12a6	A	G	2: 112,182,796 (GRCm39)	K724E	probably damaging	Het
Slc13a3	T	C	2: 165,248,667 (GRCm39)	N537S	unknown	Het
Slc26a5	T	C	5: 22,025,348 (GRCm39)	D457G	possibly damaging	Het
Slx4ip	T	C	2: 136,842,138 (GRCm39)	V21A	possibly damaging	Het
Stt3b	A	G	9: 115,087,626 (GRCm39)	Y291H	probably damaging	Het
Syn3	G	A	10: 86,302,916 (GRCm39)	P80S	probably damaging	Het
Tasor2	G	A	13: 3,626,540 (GRCm39)	Q455*	probably null	Het
Tiam1	A	T	16: 89,655,485 (GRCm39)		probably null	Het
Tjp1	T	C	7: 64,993,399 (GRCm39)	D58G	probably damaging	Het
Tmprss15	T	A	16: 78,800,266 (GRCm39)	I621F	probably damaging	Het
Tns1	C	T	1: 73,992,629 (GRCm39)	S683N	probably damaging	Het
Ttn	A	G	2: 76,773,436 (GRCm39)	L2322P	probably damaging	Het
Ugdh	G	T	5: 65,574,402 (GRCm39)	H409N	probably damaging	Het
Vmn2r81	T	A	10: 79,129,560 (GRCm39)	M817K	probably benign	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zbtb34	A	G	2: 33,302,145 (GRCm39)	V132A	probably damaging	Het
Zfp119b	A	G	17: 56,246,992 (GRCm39)	C33R	possibly 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
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
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'- TCCTGTAGAAAGCCAGGGTG -3'
(R):5'- CTCAAGTGGCAGCTGGAATC -3'

Sequencing Primer
(F):5'- GCCTGAGCTTGTACTGCC -3'
(R):5'- AATCCCCAGGGCCCATG -3'

Posted On

2018-06-06