Mutagenetix > Incidental Mutations

Incidental Mutation 'R0710:Hmg20a'

62702

Institutional Source

Beutler Lab

Gene Symbol

Hmg20a

Ensembl Gene

ENSMUSG00000032329

Gene Name

high mobility group 20A

Synonyms

Hmgxb1, 5730490E10Rik, 1200004E06Rik

MMRRC Submission

038893-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0710 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

56418609-56496936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56474670 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 77 (D77N)

Ref Sequence

ENSEMBL: ENSMUSP00000149375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034879] [ENSMUST00000213242] [ENSMUST00000214771] [ENSMUST00000214869] [ENSMUST00000215269] [ENSMUST00000217518]

Predicted Effect

probably benign
Transcript: ENSMUST00000034879
AA Change: D77N

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: D77N

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: ENSMUST00000213242

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214771
AA Change: D77N

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000214869
AA Change: D77N

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215269
AA Change: D77N

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217518
AA Change: D77N

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Celsr2	A	G	3: 108,412,712	V928A	probably benign	Het
Fam60a	A	G	6: 148,933,000		probably null	Het
Farp1	C	T	14: 121,237,143	T256M	probably damaging	Het
Fbxl3	G	T	14: 103,089,315	H162Q	probably damaging	Het
Glra3	C	T	8: 56,125,364		probably benign	Het
Gpatch8	A	G	11: 102,481,933	S260P	unknown	Het
Hectd4	G	A	5: 121,336,628	V2771I	probably benign	Het
Hgf	C	A	5: 16,566,763	C129*	probably null	Het
Iqch	A	T	9: 63,525,136	S287T	probably benign	Het
Kcnj11	T	C	7: 46,099,125	Y258C	probably benign	Het
Kif1c	A	G	11: 70,726,497	T874A	probably benign	Het
Mlc1	G	T	15: 88,977,864	Q50K	possibly damaging	Het
Mtor	T	C	4: 148,464,391	S544P	possibly damaging	Het
Mypop	A	T	7: 19,000,560		probably null	Het
Poli	A	T	18: 70,522,890		probably null	Het
Rasa3	C	A	8: 13,583,830	V478L	probably damaging	Het
Scn3a	A	T	2: 65,469,046	M1372K	probably damaging	Het
Sis	T	C	3: 72,952,531	Q297R	probably damaging	Het
Tnpo3	T	C	6: 29,586,075	D172G	possibly damaging	Het
Tulp2	T	A	7: 45,520,808	V301D	possibly damaging	Het
Ubr2	G	A	17: 46,938,681	R1582W	probably damaging	Het
Ubr3	T	C	2: 69,952,837	S706P	probably damaging	Het
Vmn1r171	C	A	7: 23,633,001	S205Y	probably damaging	Het
Wnk4	G	A	11: 101,274,106	A754T	probably benign	Het
Zfp282	C	T	6: 47,880,384	R184W	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TCTGCCTGTTGCTCAGGTTAACAC -3'
(R):5'- CGAGCCCTGCTGAACATTATAGGAG -3'

Sequencing Primer
(F):5'- GTTAACACACCCCGAGGGTC -3'
(R):5'- TAGCTACATTTAGTCAGACCAAGGG -3'

Posted On

2013-07-30