Mutagenetix > Incidental Mutations

Incidental Mutation 'R7499:Hmg20a'

581386

Institutional Source

Beutler Lab

Gene Symbol

Hmg20a

Ensembl Gene

ENSMUSG00000032329

Gene Name

high mobility group 20A

Synonyms

Hmgxb1, 5730490E10Rik, 1200004E06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7499 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56418609-56496936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56488943 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 340 (R340G)

Ref Sequence

ENSEMBL: ENSMUSP00000149359 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034879

SMART Domains

Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329

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

Predicted Effect

unknown
Transcript: ENSMUST00000217518
AA Change: R340G

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,999,902	D180V	possibly damaging	Het
Abat	T	C	16: 8,603,754		probably null	Het
Ankfn1	G	A	11: 89,391,750	T357I	probably benign	Het
Armc3	C	T	2: 19,285,979	T423I	probably benign	Het
Asb6	T	C	2: 30,824,460	T213A	possibly damaging	Het
Atp11a	T	C	8: 12,832,575	C488R	probably benign	Het
Bag6	G	A	17: 35,144,392	R736H	probably benign	Het
Bche	G	A	3: 73,701,898	P65L	probably damaging	Het
Cela3a	T	A	4: 137,405,639	I101F	probably damaging	Het
Cep170	A	T	1: 176,774,462	D359E	probably damaging	Het
Chfr	T	C	5: 110,151,683	V314A	probably benign	Het
Clpb	T	C	7: 101,722,728	F224L	possibly damaging	Het
Coro2a	T	C	4: 46,539,188	K527R	probably benign	Het
Cpa5	A	G	6: 30,630,857	T373A	possibly damaging	Het
Ctsd	A	T	7: 142,383,412		probably null	Het
Dlx5	G	A	6: 6,878,340	S230F	possibly damaging	Het
Dlx5	A	C	6: 6,878,341	S230A	probably benign	Het
Dmc1	G	T	15: 79,602,420	S11*	probably null	Het
Dnah1	G	A	14: 31,315,122	Q256*	probably null	Het
Dnah3	A	G	7: 120,060,912	F846L	probably damaging	Het
Dnah5	A	T	15: 28,302,450	I1618F	probably damaging	Het
Emsy	A	G	7: 98,630,331	V267A	possibly damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,735,422		probably null	Het
Frem1	T	C	4: 83,005,770	I317M	probably damaging	Het
G6pc	C	A	11: 101,376,694	Y323*	probably null	Het
Gm5114	A	G	7: 39,409,065	C377R	possibly damaging	Het
Gm7361	C	A	5: 26,261,190	H183Q	probably benign	Het
Hmbox1	A	G	14: 64,896,677	V158A	possibly damaging	Het
Ifi206	T	A	1: 173,482,041	I130F		Het
Ifnb1	T	C	4: 88,522,674	N34S	probably benign	Het
Il16	T	C	7: 83,674,494	K283E	probably damaging	Het
Maf	T	C	8: 115,693,181	D374G	probably benign	Het
Mettl14	A	G	3: 123,374,854	I179T	probably benign	Het
Mpped1	G	A	15: 83,800,050	R91H	probably damaging	Het
Nop2	C	A	6: 125,144,208	P651Q	possibly damaging	Het
Olfr486	A	G	7: 108,171,800	*315Q	probably null	Het
Phkg1	G	A	5: 129,873,268	Q89*	probably null	Het
Phykpl	T	A	11: 51,591,458	V133E	probably damaging	Het
Polr3gl	A	T	3: 96,579,821	Y183N	probably benign	Het
Pqlc2	T	A	4: 139,306,512	D32V	probably damaging	Het
Rab13	A	G	3: 90,225,533	T187A	probably benign	Het
Ripor2	A	G	13: 24,693,772	M252V	probably damaging	Het
Sec61a2	T	C	2: 5,877,914	N186S	probably benign	Het
Serpinb5	T	C	1: 106,872,389		probably null	Het
Serpine3	G	A	14: 62,665,027	W29*	probably null	Het
Sh2b3	T	C	5: 121,818,473	R382G	probably damaging	Het
Slc7a5	A	G	8: 121,883,722	L451P	probably damaging	Het
Slco1a5	T	C	6: 142,262,531		probably null	Het
Tep1	G	A	14: 50,853,590	A695V	probably damaging	Het
Tnik	T	C	3: 28,630,594	V857A	possibly damaging	Het
Trdn	A	T	10: 33,196,101	M255L	probably benign	Het
Tsc22d4	G	A	5: 137,747,723	S203N	probably benign	Het
Tsfm	T	C	10: 127,022,548	E316G	possibly damaging	Het
Tvp23b	T	C	11: 62,879,463		probably benign	Het
Vgf	C	A	5: 137,032,245	D420E	probably damaging	Het
Zan	G	A	5: 137,464,356	P854S	probably benign	Het
Zfp831	T	C	2: 174,644,023	S164P	possibly damaging	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
P0033:Hmg20a	UTSW	9	56489824	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- GAAACACCGTCCTTCAGCAG -3'
(R):5'- GTGAATCTGAACGTCTGAGTGAC -3'

Sequencing Primer
(F):5'- TTCAGCAGCACCTGGAGAC -3'
(R):5'- CCTGGGTATCCTTGAACTAGATCAG -3'

Posted On

2019-10-17