Mutagenetix > Incidental Mutation

Incidental Mutation 'R6863:Hmg20b'

535766

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

MMRRC Submission

044963-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

R6863 (G1)

Quality Score

200.009

Status

Validated

Chromosome

Chromosomal Location

81181882-81186314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81182854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 210 (N210S)

Ref Sequence

ENSEMBL: ENSMUSP00000128807 (fasta)

Gene Model

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

AlphaFold

Q9Z104

Predicted Effect

probably damaging
Transcript: ENSMUST00000020454
AA Change: N210S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020454
Gene: ENSMUSG00000020232
AA Change: N210S

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 damaging
Transcript: ENSMUST00000105323
AA Change: N210S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100960
Gene: ENSMUSG00000020232
AA Change: N210S

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 damaging
Transcript: ENSMUST00000105324
AA Change: N210S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100961
Gene: ENSMUSG00000020232
AA Change: N210S

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 damaging
Transcript: ENSMUST00000122993
AA Change: N108S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137861
Gene: ENSMUSG00000020232
AA Change: N108S

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: N159S

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: N228S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115459
Gene: ENSMUSG00000020232
AA Change: N228S

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

probably damaging
Transcript: ENSMUST00000167481
AA Change: N210S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128807
Gene: ENSMUSG00000020232
AA Change: N210S

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	T	15: 94,277,627 (GRCm39)	Y278*	probably null	Het
Agap3	A	T	5: 24,657,461 (GRCm39)	Y86F	possibly damaging	Het
Agap3	C	A	5: 24,657,462 (GRCm39)	Y86*	probably null	Het
Ahnak	T	C	19: 8,989,729 (GRCm39)		probably benign	Het
Arhgap45	G	T	10: 79,853,616 (GRCm39)	E43D	probably benign	Het
Cacna1d	A	C	14: 29,797,809 (GRCm39)	I1426S	probably damaging	Het
Calhm5	C	A	10: 33,968,451 (GRCm39)	A201S	probably benign	Het
Cdkn2a	T	C	4: 89,193,003 (GRCm39)	E159G	probably benign	Het
Cep85l	C	A	10: 53,225,214 (GRCm39)	W125L	probably damaging	Het
Ces1g	C	T	8: 94,043,647 (GRCm39)	V431M	possibly damaging	Het
Csmd1	G	A	8: 17,584,929 (GRCm39)	A21V	possibly damaging	Het
Ctsc	T	A	7: 87,951,486 (GRCm39)	Y243*	probably null	Het
Ctu1	A	G	7: 43,326,046 (GRCm39)	E235G	probably damaging	Het
Degs2	T	C	12: 108,668,457 (GRCm39)	Y14C	probably damaging	Het
Dnaaf5	T	C	5: 139,137,351 (GRCm39)	F235L	probably damaging	Het
Dpp8	T	C	9: 64,942,290 (GRCm39)	S5P	probably damaging	Het
Dync1h1	T	C	12: 110,618,614 (GRCm39)	I3288T	probably benign	Het
Ebpl	A	T	14: 61,597,751 (GRCm39)	L30Q	probably damaging	Het
Eif1ad15	T	C	12: 88,287,968 (GRCm39)	Y95C	probably damaging	Het
Etaa1	T	A	11: 17,903,794 (GRCm39)	M1L	probably benign	Het
Etl4	A	G	2: 20,811,120 (GRCm39)	T1068A	probably benign	Het
Eya1	C	A	1: 14,341,199 (GRCm39)		probably null	Het
Fat1	G	T	8: 45,497,501 (GRCm39)	V4329L	probably damaging	Het
Fras1	A	T	5: 96,691,165 (GRCm39)	Q127L	probably benign	Het
Gm1110	T	G	9: 26,792,360 (GRCm39)	Y590S	probably damaging	Het
Gm14410	G	A	2: 176,885,860 (GRCm39)	Q135*	probably null	Het
Greb1	A	T	12: 16,734,421 (GRCm39)	V1523D	probably damaging	Het
Kcnh7	T	C	2: 62,618,029 (GRCm39)	K487E	possibly damaging	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif17	T	A	4: 137,997,195 (GRCm39)	Y139*	probably null	Het
Klhl2	A	T	8: 65,275,743 (GRCm39)	N53K	probably benign	Het
Lrit2	G	T	14: 36,793,901 (GRCm39)	G322C	probably damaging	Het
Macir	T	C	1: 97,574,030 (GRCm39)	T12A	probably benign	Het
Matcap1	T	C	8: 106,012,435 (GRCm39)	D4G	probably damaging	Het
Mgam	A	T	6: 40,705,943 (GRCm39)	Q4L	probably benign	Het
Mst1r	A	G	9: 107,797,225 (GRCm39)	T1365A	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mydgf	C	A	17: 56,490,789 (GRCm39)	V35L	probably damaging	Het
Nmt2	T	A	2: 3,306,341 (GRCm39)		probably null	Het
Or10s1	A	G	9: 39,986,110 (GRCm39)	Y173C	probably damaging	Het
Or52ad1	C	T	7: 102,996,123 (GRCm39)	C4Y	possibly damaging	Het
Pik3r2	T	C	8: 71,223,058 (GRCm39)	Y454C	probably damaging	Het
Rad54l	T	C	4: 115,956,866 (GRCm39)	Y485C	probably damaging	Het
Rapgef6	T	A	11: 54,437,206 (GRCm39)	S50T	probably benign	Het
Scaf11	T	C	15: 96,317,300 (GRCm39)	S755G	probably damaging	Het
Shb	A	G	4: 45,458,163 (GRCm39)	W135R	probably damaging	Het
Slc1a4	T	C	11: 20,264,001 (GRCm39)	K239E	probably damaging	Het
Slc44a4	T	A	17: 35,142,798 (GRCm39)	V248D	probably benign	Het
Smpdl3a	T	A	10: 57,684,107 (GRCm39)	Y288*	probably null	Het
Sptbn1	T	C	11: 30,096,777 (GRCm39)	M267V	possibly damaging	Het
Taok2	C	T	7: 126,471,109 (GRCm39)	R661Q	probably damaging	Het
Tas1r2	A	T	4: 139,397,030 (GRCm39)	I819F	probably damaging	Het
Themis2	A	T	4: 132,516,907 (GRCm39)	W198R	probably damaging	Het
Timd4	C	G	11: 46,706,270 (GRCm39)	S24*	probably null	Het
Tnrc18	T	C	5: 142,800,952 (GRCm39)	D2G	probably damaging	Het
Wdr35	A	G	12: 9,040,047 (GRCm39)	D384G	probably damaging	Het
Zfp560	C	A	9: 20,259,795 (GRCm39)	V356F	probably damaging	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
R2843:Hmg20b	UTSW	10	81,182,404 (GRCm39)	missense	probably benign	0.18
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
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'- CCTAATTGAAAAGTGTGGGCGG -3'
(R):5'- TCAGGACTGAAGTTCCAGGG -3'

Sequencing Primer
(F):5'- AAGTGTGGGCGGGACCG -3'
(R):5'- TCTAGGATTGAGGGCGGATAGGATC -3'

Posted On

2018-10-18