Mutagenetix > Incidental Mutation

Incidental Mutation 'R2843:Hmg20b'

254395

Institutional Source

Beutler Lab

Gene Symbol

Hmg20b

Ensembl Gene

ENSMUSG00000020232

Gene Name

high mobility group 20B

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.444) question?

Stock #

R2843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81181882-81186314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 81182404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 209 (R209G)

Ref Sequence

ENSEMBL: ENSMUSP00000137861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020454] [ENSMUST00000045102] [ENSMUST00000105323] [ENSMUST00000105324] [ENSMUST00000122993] [ENSMUST00000167481] [ENSMUST00000154609]

AlphaFold

Q9Z104

Predicted Effect

probably benign
Transcript: ENSMUST00000020454
AA Change: R311G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020454
Gene: ENSMUSG00000020232
AA Change: R311G

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: ENSMUST00000045102

SMART Domains

Protein: ENSMUSP00000049236
Gene: ENSMUSG00000034872

Domain	Start	End	E-Value	Type
low complexity region	94	104	N/A	INTRINSIC
PDZ	105	179	1.19e-7	SMART
low complexity region	224	237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105323
AA Change: R311G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000100960
Gene: ENSMUSG00000020232
AA Change: R311G

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: ENSMUST00000105324
AA Change: R311G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000100961
Gene: ENSMUSG00000020232
AA Change: R311G

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
AA Change: R209G

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137861
Gene: ENSMUSG00000020232
AA Change: R209G

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

noncoding transcript
Transcript: ENSMUST00000129482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132313

Predicted Effect

probably benign
Transcript: ENSMUST00000167481
AA Change: R311G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128807
Gene: ENSMUSG00000020232
AA Change: R311G

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

noncoding transcript
Transcript: ENSMUST00000134857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140160

Predicted Effect

probably benign
Transcript: ENSMUST00000141171

SMART Domains

Protein: ENSMUSP00000117322
Gene: ENSMUSG00000020232

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 benign
Transcript: ENSMUST00000154609

SMART Domains

Protein: ENSMUSP00000115459
Gene: ENSMUSG00000020232

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	C	T	5: 90,674,324 (GRCm39)	R279*	probably null	Het
Arhgef18	A	G	8: 3,414,634 (GRCm39)	E4G	possibly damaging	Het
Fbxw7	G	A	3: 84,883,527 (GRCm39)	R486Q	probably damaging	Het
Fhad1	G	T	4: 141,632,279 (GRCm39)	Q1287K	probably benign	Het
Hydin	T	C	8: 111,245,746 (GRCm39)	V2153A	probably benign	Het
Jade1	T	C	3: 41,559,280 (GRCm39)	Y454H	probably damaging	Het
Kcnn3	CGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAG	3: 89,427,972 (GRCm39)		probably benign	Het
Pdlim2	C	T	14: 70,403,549 (GRCm39)	V288I	probably benign	Het
Pknox2	T	C	9: 36,805,624 (GRCm39)	N395S	probably benign	Het
Ppfia3	C	A	7: 45,005,852 (GRCm39)	R348L	probably damaging	Het
Rad51	T	C	2: 118,949,114 (GRCm39)	V38A	probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Vmn2r18	T	A	5: 151,485,749 (GRCm39)	T582S	probably damaging	Het
Zbtb8os	A	T	4: 129,235,309 (GRCm39)	E54D	probably damaging	Het
Zfp84	T	G	7: 29,474,758 (GRCm39)		probably null	Het

Other mutations in Hmg20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Hmg20b	APN	10	81,183,309 (GRCm39)	missense	probably benign	0.44
IGL02751:Hmg20b	APN	10	81,182,385 (GRCm39)	splice site	probably benign
PIT4585001:Hmg20b	UTSW	10	81,184,789 (GRCm39)	missense	possibly damaging	0.81
R0903:Hmg20b	UTSW	10	81,184,329 (GRCm39)	critical splice donor site	probably null
R2337:Hmg20b	UTSW	10	81,184,347 (GRCm39)	missense	probably damaging	1.00
R4646:Hmg20b	UTSW	10	81,184,416 (GRCm39)	missense	probably damaging	0.99
R4647:Hmg20b	UTSW	10	81,184,416 (GRCm39)	missense	probably damaging	0.99
R4648:Hmg20b	UTSW	10	81,184,416 (GRCm39)	missense	probably damaging	0.99
R4850:Hmg20b	UTSW	10	81,182,761 (GRCm39)	missense	probably damaging	1.00
R6863:Hmg20b	UTSW	10	81,182,854 (GRCm39)	missense	probably damaging	1.00
R7567:Hmg20b	UTSW	10	81,182,493 (GRCm39)	missense	possibly damaging	0.95
R7611:Hmg20b	UTSW	10	81,185,432 (GRCm39)	intron	probably benign
R7881:Hmg20b	UTSW	10	81,182,442 (GRCm39)	missense	probably damaging	1.00
R8839:Hmg20b	UTSW	10	81,184,749 (GRCm39)	missense	probably damaging	1.00
R8921:Hmg20b	UTSW	10	81,184,821 (GRCm39)	missense	probably damaging	1.00
R9405:Hmg20b	UTSW	10	81,185,258 (GRCm39)	missense	probably benign
Z1088:Hmg20b	UTSW	10	81,182,407 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAAGGGATGCGGTTGAGATTTC -3'
(R):5'- CGCCCACACTTTTCAATTAGG -3'

Sequencing Primer
(F):5'- AAGGGATGCGGTTGAGATTTCATTTG -3'
(R):5'- AAGGCCAATTCCCTGGTCC -3'

Posted On

2014-12-04