Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4585001:Hmg20b'

556615

Institutional Source

Beutler Lab

Gene Symbol

Hmg20b

Ensembl Gene

ENSMUSG00000020232

Gene Name

high mobility group 20B

Synonyms

BRAF35, BRCA2-associated factor 35, Smarce1r, Hmgxb2, Hmgx2

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.370) question?

Stock #

PIT4585001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81346048-81350480 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81348955 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 94 (D94E)

Ref Sequence

ENSEMBL: ENSMUSP00000020454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020454] [ENSMUST00000105323] [ENSMUST00000105324] [ENSMUST00000122993] [ENSMUST00000154609] [ENSMUST00000167481]

PDB Structure

Solution structure of the HMG domain of mouse HMG domain protein HMGX2 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020454
AA Change: D94E

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020454
Gene: ENSMUSG00000020232
AA Change: D94E

Domain	Start	End	E-Value	Type
low complexity region	4	22	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
HMG	69	139	8.68e-22	SMART
coiled coil region	190	257	N/A	INTRINSIC
low complexity region	266	280	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105323
AA Change: D94E

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100960
Gene: ENSMUSG00000020232
AA Change: D94E

Domain	Start	End	E-Value	Type
low complexity region	4	22	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
HMG	69	139	8.68e-22	SMART
coiled coil region	190	257	N/A	INTRINSIC
low complexity region	266	280	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105324
AA Change: D94E

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100961
Gene: ENSMUSG00000020232
AA Change: D94E

Domain	Start	End	E-Value	Type
low complexity region	4	22	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
HMG	69	139	8.68e-22	SMART
coiled coil region	190	257	N/A	INTRINSIC
low complexity region	266	280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122993

SMART Domains

Protein: ENSMUSP00000137861
Gene: ENSMUSG00000020232

Domain	Start	End	E-Value	Type
Pfam:HMG_box	1	36	1.2e-7	PFAM
coiled coil region	88	155	N/A	INTRINSIC
low complexity region	164	178	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117322
Gene: ENSMUSG00000020232
AA Change: D43E

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
HMG	19	89	8.68e-22	SMART
coiled coil region	139	206	N/A	INTRINSIC
low complexity region	234	246	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000154609
AA Change: D94E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115459
Gene: ENSMUSG00000020232
AA Change: D94E

Domain	Start	End	E-Value	Type
low complexity region	4	22	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
HMG	69	139	8.68e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167481
AA Change: D94E

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128807
Gene: ENSMUSG00000020232
AA Change: D94E

Domain	Start	End	E-Value	Type
low complexity region	4	22	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
HMG	69	139	8.68e-22	SMART
coiled coil region	190	257	N/A	INTRINSIC
low complexity region	266	280	N/A	INTRINSIC

Coding Region Coverage

1x: 93.6%
3x: 91.2%
10x: 86.5%
20x: 76.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurka	T	C	2: 172,357,197	M318V	probably benign	Het
Cacna2d1	T	A	5: 16,326,344	D560E	probably damaging	Het
Ccdc148	T	A	2: 58,982,976	T202S	probably benign	Het
Ccdc155	C	T	7: 45,200,271	G76D	probably benign	Het
Cdc42bpb	T	C	12: 111,304,978	D1149G	probably damaging	Het
Clasp1	T	A	1: 118,462,555	N156K	probably damaging	Het
Cox18	G	A	5: 90,217,575	T255I	possibly damaging	Het
Cse1l	A	G	2: 166,941,474	T783A	probably damaging	Het
Dnajc16	T	C	4: 141,764,685	Y609C	probably damaging	Het
Doc2g	A	G	19: 4,006,630	T339A	probably benign	Het
Eif5a	T	C	11: 69,918,070		probably benign	Het
Epha3	A	G	16: 63,566,577		probably null	Het
Esco1	A	T	18: 10,594,355	C310*	probably null	Het
Fam208b	G	A	13: 3,574,979	A1657V	possibly damaging	Het
Fam222a	A	G	5: 114,611,040	Y99C	probably damaging	Het
Fzd2	T	C	11: 102,605,747	L339P	probably damaging	Het
Gfral	A	T	9: 76,197,294	N145K	probably damaging	Het
Gga1	T	A	15: 78,893,790	N618K	probably benign	Het
Gpatch3	T	A	4: 133,583,086	H447Q	probably damaging	Het
Gpn1	A	T	5: 31,509,403	R346*	probably null	Het
Gsg1	T	C	6: 135,237,560	E317G	probably benign	Het
Gsk3b	A	G	16: 38,184,454	N129S	probably damaging	Het
Klhdc9	T	A	1: 171,359,818	H204L	possibly damaging	Het
Klhl24	A	G	16: 20,106,888	I55M	probably benign	Het
Kmt2c	T	C	5: 25,315,106	D2002G	probably benign	Het
Lama4	A	G	10: 39,074,746	N1015S	probably damaging	Het
Lpp	T	C	16: 24,761,947	C263R	probably benign	Het
Lrp1b	T	C	2: 41,269,204	I1689V		Het
Mipep	C	A	14: 60,784,835	Q50K	probably benign	Het
Mx1	T	C	16: 97,456,254	D101G	probably benign	Het
Nabp2	C	G	10: 128,408,807	E37Q	possibly damaging	Het
Nme6	A	G	9: 109,842,036	I115V	possibly damaging	Het
Nup93	A	T	8: 94,243,727	T85S	probably benign	Het
Oit3	T	A	10: 59,431,013	I224F	possibly damaging	Het
Parp14	T	C	16: 35,858,605	K331R	probably benign	Het
Pls1	T	A	9: 95,761,390	T519S	probably benign	Het
Rcn3	A	G	7: 45,086,694	F197L	probably benign	Het
Rnf213	C	T	11: 119,458,392	T3773I		Het
Rprd1b	A	T	2: 158,047,957	I153L	probably benign	Het
Scel	A	G	14: 103,592,368	D462G	possibly damaging	Het
Sh3bp1	C	T	15: 78,910,076	S548L	possibly damaging	Het
Sim1	T	A	10: 50,984,188	Y715*	probably null	Het
Slc18a2	A	T	19: 59,293,861	Q500L	possibly damaging	Het
Slc5a8	T	G	10: 88,886,503	M66R	probably damaging	Het
Slco1a6	T	C	6: 142,109,520	T233A	probably damaging	Het
Smu1	T	C	4: 40,739,623	T396A	probably benign	Het
Tas2r104	T	C	6: 131,685,558	T63A	possibly damaging	Het
Top2a	C	T	11: 99,001,373	A1088T	probably benign	Het
Ucp1	T	C	8: 83,293,948	F129S	probably damaging	Het
Unc13b	T	A	4: 43,091,298	D41E	probably benign	Het
Usp10	T	G	8: 119,954,892	V696G	probably benign	Het
Xylt2	C	T	11: 94,666,240	V745M	probably damaging	Het
Zbtb49	A	T	5: 38,216,476	N41K	probably damaging	Het
Zfp109	T	A	7: 24,229,354	D218V	probably benign	Het
Zfp420	G	A	7: 29,876,005	R550Q	probably benign	Het

Other mutations in Hmg20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Hmg20b	APN	10	81347475	missense	probably benign	0.44
IGL02751:Hmg20b	APN	10	81346551	splice site	probably benign
R0903:Hmg20b	UTSW	10	81348495	critical splice donor site	probably null
R2337:Hmg20b	UTSW	10	81348513	missense	probably damaging	1.00
R2843:Hmg20b	UTSW	10	81346570	missense	probably benign	0.18
R4646:Hmg20b	UTSW	10	81348582	missense	probably damaging	0.99
R4647:Hmg20b	UTSW	10	81348582	missense	probably damaging	0.99
R4648:Hmg20b	UTSW	10	81348582	missense	probably damaging	0.99
R4850:Hmg20b	UTSW	10	81346927	missense	probably damaging	1.00
R6863:Hmg20b	UTSW	10	81347020	missense	probably damaging	1.00
R7567:Hmg20b	UTSW	10	81346659	missense	possibly damaging	0.95
R7611:Hmg20b	UTSW	10	81349598	intron	probably benign
R7881:Hmg20b	UTSW	10	81346608	missense	probably damaging	1.00
R7964:Hmg20b	UTSW	10	81346608	missense	probably damaging	1.00
Z1088:Hmg20b	UTSW	10	81346573	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTGGACGTTCTCCACCTTG -3'
(R):5'- TGATCTGCCGACCTACCACTAG -3'

Sequencing Primer
(F):5'- CACCTTGTTCTTTGGGCCTGG -3'
(R):5'- TGCCGACCTACCACTAGACTAGG -3'

Posted On

2019-06-07