Mutagenetix > Incidental Mutations

Incidental Mutation 'P0033:Hmg20a'

7723

Institutional Source

Beutler Lab

Gene Symbol

Hmg20a

Ensembl Gene

ENSMUSG00000032329

Gene Name

high mobility group 20A

Synonyms

Hmgxb1, 5730490E10Rik, 1200004E06Rik

MMRRC Submission

038284-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

P0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

56418609-56496936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56489824 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 303 (S303G)

Ref Sequence

ENSEMBL: ENSMUSP00000149698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034879] [ENSMUST00000215269] [ENSMUST00000217518]

Predicted Effect

probably benign
Transcript: ENSMUST00000034879
AA Change: S303G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: S303G

Domain	Start	End	E-Value	Type
low complexity region	80	94	N/A	INTRINSIC
HMG	101	171	1.86e-21	SMART
coiled coil region	228	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215269
AA Change: S303G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000217518

Meta Mutation Damage Score

0.0791

Coding Region Coverage

1x: 81.1%
3x: 72.9%
10x: 47.1%
20x: 23.7%

Validation Efficiency

86% (108/125)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Depdc1a	T	C	3: 159,516,141	S241P	probably damaging	Het
Dusp19	T	A	2: 80,617,385	M1K	probably null	Het
Egfem1	G	C	3: 29,690,191	Q526H	probably damaging	Het
Gm10856	C	A	15: 79,845,822		noncoding transcript	Het
Gm5901	A	G	7: 105,377,505	Y160C	probably damaging	Het
Lmbrd1	A	G	1: 24,685,565	T77A	possibly damaging	Het
Map3k5	C	T	10: 20,132,213		probably benign	Het
Ncapg2	G	A	12: 116,438,635	V696I	probably benign	Het
Orm3	A	T	4: 63,356,302	T35S	probably damaging	Het
Pdgfra	A	G	5: 75,192,561	E1004G	probably damaging	Het
Pigg	T	A	5: 108,342,078	F850I	probably damaging	Het
Ppip5k2	A	G	1: 97,717,528	V1067A	probably damaging	Het
Ptprd	T	A	4: 76,128,854	R392*	probably null	Het
Rad54b	T	A	4: 11,609,285		probably benign	Het
Rapgef4	T	C	2: 72,137,331		probably benign	Het
Rasef	T	C	4: 73,749,852	N134S	probably benign	Het
Sfswap	C	T	5: 129,539,755	P421L	possibly damaging	Het
Sorcs1	T	A	19: 50,152,907	I1129F	probably damaging	Het
Spats2l	G	A	1: 57,885,838	E132K	probably damaging	Het
Tet3	A	G	6: 83,368,512	S1648P	probably damaging	Het
Ttc16	T	A	2: 32,762,574	T691S	probably benign	Het
Usp38	C	T	8: 80,981,896	D1018N	probably benign	Het
Zcchc14	A	C	8: 121,610,159		probably benign	Het

Other mutations in Hmg20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Hmg20a	APN	9	56487650	missense	probably damaging	1.00
IGL01981:Hmg20a	APN	9	56477230	missense	probably damaging	1.00
IGL02085:Hmg20a	APN	9	56477302	nonsense	probably null
IGL03284:Hmg20a	APN	9	56481617	missense	probably benign	0.25
ANU22:Hmg20a	UTSW	9	56487650	missense	probably damaging	1.00
R0369:Hmg20a	UTSW	9	56487650	missense	probably damaging	1.00
R0710:Hmg20a	UTSW	9	56474670	missense	possibly damaging	0.84
R1405:Hmg20a	UTSW	9	56477303	missense	possibly damaging	0.66
R1405:Hmg20a	UTSW	9	56477303	missense	possibly damaging	0.66
R1546:Hmg20a	UTSW	9	56467401	missense	possibly damaging	0.56
R2188:Hmg20a	UTSW	9	56477300	missense	possibly damaging	0.93
R4730:Hmg20a	UTSW	9	56467419	missense	possibly damaging	0.85
R4956:Hmg20a	UTSW	9	56481664	missense	probably damaging	1.00
R6115:Hmg20a	UTSW	9	56489832	missense	possibly damaging	0.95
R6130:Hmg20a	UTSW	9	56488607	splice site	probably null
R6152:Hmg20a	UTSW	9	56481608	missense	probably damaging	1.00
R6961:Hmg20a	UTSW	9	56488728	missense	probably benign	0.29
R7499:Hmg20a	UTSW	9	56488943	missense	unknown

Posted On

2012-10-29