Mutagenetix > Incidental Mutation

Incidental Mutation 'R4710:Hmgxb3'

353243

Institutional Source

Beutler Lab

Gene Symbol

Hmgxb3

Ensembl Gene

ENSMUSG00000024622

Gene Name

HMG box domain containing 3

Synonyms

2510002C16Rik, A630042L21Rik

MMRRC Submission

042019-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R4710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61264349-61310122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61270547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 926 (P926S)

Ref Sequence

ENSEMBL: ENSMUSP00000089498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091884]

AlphaFold

Q6AXF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000091884
AA Change: P926S

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

SMART Domains

Protein: ENSMUSP00000089498
Gene: ENSMUSG00000024622
AA Change: P926S

Domain	Start	End	E-Value	Type
HMG	40	110	6.8e-15	SMART
low complexity region	182	194	N/A	INTRINSIC
internal_repeat_1	307	336	1.98e-9	PROSPERO
internal_repeat_1	583	612	1.98e-9	PROSPERO
low complexity region	817	830	N/A	INTRINSIC
low complexity region	966	977	N/A	INTRINSIC
low complexity region	1239	1254	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158500

Meta Mutation Damage Score

0.3263

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,618,262 (GRCm39)	Q185L	probably benign	Het
Acaca	T	A	11: 84,283,163 (GRCm39)	I2243N	possibly damaging	Het
Adamts18	A	G	8: 114,433,558 (GRCm39)	S1059P	probably damaging	Het
Aox4	A	T	1: 58,294,797 (GRCm39)	K1002M	probably damaging	Het
Ap1b1	A	G	11: 4,981,664 (GRCm39)	Y524C	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cd209b	T	C	8: 3,974,215 (GRCm39)	E99G	probably damaging	Het
Cntn2	T	A	1: 132,455,963 (GRCm39)	H185L	possibly damaging	Het
Col4a2	C	A	8: 11,459,462 (GRCm39)	P299Q	probably benign	Het
Commd3	A	G	2: 18,679,093 (GRCm39)	N106S	probably benign	Het
Coro7	T	G	16: 4,452,797 (GRCm39)		probably benign	Het
Ctf1	C	A	7: 127,316,252 (GRCm39)	P66Q	probably damaging	Het
Dclre1c	T	C	2: 3,441,898 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,529,493 (GRCm39)	L317Q	probably damaging	Het
Dnah2	A	G	11: 69,368,903 (GRCm39)	L1667P	probably damaging	Het
Dpp4	A	G	2: 62,190,659 (GRCm39)	I399T	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Erg	T	C	16: 95,190,893 (GRCm39)	D90G	possibly damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcgbp	A	T	7: 27,794,386 (GRCm39)	M1197L	probably benign	Het
Gimd1	T	C	3: 132,340,609 (GRCm39)	S42P	possibly damaging	Het
Gm5526	T	A	1: 45,896,579 (GRCm39)		noncoding transcript	Het
Gnl2	T	A	4: 124,947,252 (GRCm39)	S625T	probably benign	Het
H2-Q2	A	G	17: 35,562,278 (GRCm39)	E175G	probably damaging	Het
Ifi213	G	A	1: 173,394,738 (GRCm39)		probably benign	Het
Inhba	T	C	13: 16,201,068 (GRCm39)	V210A	probably benign	Het
Kansl1l	G	A	1: 66,840,655 (GRCm39)	A215V	possibly damaging	Het
Kcnk1	T	A	8: 126,756,267 (GRCm39)	V263D	probably damaging	Het
Kcnk9	A	G	15: 72,384,824 (GRCm39)	I118T	probably damaging	Het
Lamb1	A	G	12: 31,332,582 (GRCm39)	I283V	probably benign	Het
Larp7-ps	T	C	4: 92,079,212 (GRCm39)	E203G	possibly damaging	Het
Lias	A	G	5: 65,555,070 (GRCm39)	D88G	probably benign	Het
Lrrk2	G	A	15: 91,584,130 (GRCm39)	V297M	possibly damaging	Het
Maea	C	T	5: 33,526,034 (GRCm39)	R237C	probably benign	Het
Mdfi	T	A	17: 48,135,511 (GRCm39)	N73I	probably damaging	Het
Mphosph6	T	A	8: 118,528,641 (GRCm39)	M1L	probably damaging	Het
Mta2	T	A	19: 8,926,517 (GRCm39)	I486N	probably damaging	Het
Nbr1	C	T	11: 101,466,101 (GRCm39)	P769L	probably damaging	Het
Ncam2	T	A	16: 81,262,594 (GRCm39)		probably null	Het
Ndel1	A	G	11: 68,736,163 (GRCm39)	Y26H	probably damaging	Het
Neb	T	C	2: 52,150,610 (GRCm39)	R2473G	probably benign	Het
Or10ag53	T	A	2: 87,082,384 (GRCm39)	D34E	possibly damaging	Het
Or2t46	A	T	11: 58,472,548 (GRCm39)	I293F	probably damaging	Het
Or4c3d	T	C	2: 89,882,494 (GRCm39)	Y58C	probably damaging	Het
Or5h19	T	A	16: 58,856,638 (GRCm39)	H154L	possibly damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Prkn	A	C	17: 12,073,720 (GRCm39)	Q346P	possibly damaging	Het
Prrc2b	T	A	2: 32,083,869 (GRCm39)	S236R	possibly damaging	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Rnf112	T	C	11: 61,340,657 (GRCm39)	D491G	probably damaging	Het
Rnf220	C	T	4: 117,146,411 (GRCm39)		probably benign	Het
Ryr3	G	A	2: 112,596,646 (GRCm39)	L2483F	probably damaging	Het
Sema6a	T	C	18: 47,403,750 (GRCm39)	N624S	probably benign	Het
Sgms1	C	T	19: 32,137,537 (GRCm39)	V10M	probably damaging	Het
Slc23a2	T	C	2: 131,898,629 (GRCm39)	N636S	probably benign	Het
Slc25a48	C	T	13: 56,611,379 (GRCm39)	T162I	probably damaging	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Snrnp200	T	C	2: 127,068,053 (GRCm39)	L850P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sox18	A	G	2: 181,312,688 (GRCm39)	Y148H	probably damaging	Het
Stk-ps1	A	G	17: 36,708,562 (GRCm39)		noncoding transcript	Het
Tas2r104	T	A	6: 131,662,407 (GRCm39)	T101S	probably damaging	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn2r4	A	G	3: 64,317,201 (GRCm39)		probably null	Het
Vmn2r53	T	A	7: 12,335,129 (GRCm39)	H177L	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het
Zfat	A	T	15: 68,052,131 (GRCm39)	D554E	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het

Other mutations in Hmgxb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Hmgxb3	APN	18	61,290,811 (GRCm39)	missense	probably benign	0.00
IGL01325:Hmgxb3	APN	18	61,267,078 (GRCm39)	missense	probably damaging	1.00
IGL01364:Hmgxb3	APN	18	61,279,506 (GRCm39)	missense	probably damaging	0.96
IGL02160:Hmgxb3	APN	18	61,304,308 (GRCm39)	missense	probably damaging	1.00
IGL02271:Hmgxb3	APN	18	61,265,285 (GRCm39)	missense	probably damaging	1.00
IGL02755:Hmgxb3	APN	18	61,305,260 (GRCm39)	missense	probably damaging	1.00
R0309:Hmgxb3	UTSW	18	61,288,200 (GRCm39)	splice site	probably benign
R0828:Hmgxb3	UTSW	18	61,304,426 (GRCm39)	missense	probably damaging	1.00
R1276:Hmgxb3	UTSW	18	61,298,576 (GRCm39)	missense	probably benign	0.04
R1429:Hmgxb3	UTSW	18	61,283,505 (GRCm39)	missense	probably damaging	0.98
R1491:Hmgxb3	UTSW	18	61,266,980 (GRCm39)	missense	probably benign	0.04
R1675:Hmgxb3	UTSW	18	61,268,631 (GRCm39)	missense	probably damaging	1.00
R1886:Hmgxb3	UTSW	18	61,270,473 (GRCm39)	critical splice donor site	probably null
R1887:Hmgxb3	UTSW	18	61,270,473 (GRCm39)	critical splice donor site	probably null
R2070:Hmgxb3	UTSW	18	61,304,431 (GRCm39)	missense	probably damaging	1.00
R2084:Hmgxb3	UTSW	18	61,288,095 (GRCm39)	splice site	probably benign
R2110:Hmgxb3	UTSW	18	61,288,458 (GRCm39)	missense	possibly damaging	0.54
R2112:Hmgxb3	UTSW	18	61,288,458 (GRCm39)	missense	possibly damaging	0.54
R2149:Hmgxb3	UTSW	18	61,290,746 (GRCm39)	missense	probably benign	0.08
R2342:Hmgxb3	UTSW	18	61,296,063 (GRCm39)	missense	possibly damaging	0.89
R2436:Hmgxb3	UTSW	18	61,280,566 (GRCm39)	missense	probably benign
R2898:Hmgxb3	UTSW	18	61,288,368 (GRCm39)	missense	probably benign	0.00
R2975:Hmgxb3	UTSW	18	61,296,038 (GRCm39)	nonsense	probably null
R3110:Hmgxb3	UTSW	18	61,280,454 (GRCm39)	missense	probably damaging	1.00
R3111:Hmgxb3	UTSW	18	61,280,454 (GRCm39)	missense	probably damaging	1.00
R3112:Hmgxb3	UTSW	18	61,280,454 (GRCm39)	missense	probably damaging	1.00
R4327:Hmgxb3	UTSW	18	61,300,611 (GRCm39)	missense	probably benign	0.11
R4750:Hmgxb3	UTSW	18	61,300,568 (GRCm39)	missense	probably benign
R4876:Hmgxb3	UTSW	18	61,279,606 (GRCm39)	missense	possibly damaging	0.94
R5177:Hmgxb3	UTSW	18	61,305,266 (GRCm39)	missense	probably damaging	1.00
R5490:Hmgxb3	UTSW	18	61,296,049 (GRCm39)	missense	probably damaging	0.99
R5601:Hmgxb3	UTSW	18	61,270,694 (GRCm39)	missense	probably damaging	1.00
R5718:Hmgxb3	UTSW	18	61,273,909 (GRCm39)	missense	probably benign	0.05
R6011:Hmgxb3	UTSW	18	61,296,096 (GRCm39)	missense	probably damaging	0.97
R6034:Hmgxb3	UTSW	18	61,265,594 (GRCm39)	missense	probably damaging	1.00
R6034:Hmgxb3	UTSW	18	61,265,594 (GRCm39)	missense	probably damaging	1.00
R6092:Hmgxb3	UTSW	18	61,270,672 (GRCm39)	missense	possibly damaging	0.56
R6142:Hmgxb3	UTSW	18	61,269,309 (GRCm39)	missense	probably benign	0.00
R6419:Hmgxb3	UTSW	18	61,285,296 (GRCm39)	missense	possibly damaging	0.71
R6675:Hmgxb3	UTSW	18	61,270,648 (GRCm39)	missense	possibly damaging	0.86
R7130:Hmgxb3	UTSW	18	61,265,450 (GRCm39)	missense	probably benign
R7431:Hmgxb3	UTSW	18	61,280,517 (GRCm39)	missense	probably damaging	1.00
R8265:Hmgxb3	UTSW	18	61,300,410 (GRCm39)	missense	possibly damaging	0.77
R8559:Hmgxb3	UTSW	18	61,288,491 (GRCm39)	missense	probably benign	0.19
R8674:Hmgxb3	UTSW	18	61,269,303 (GRCm39)	missense	probably benign	0.37
R8711:Hmgxb3	UTSW	18	61,290,721 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACATGCTGGAGTGTAGGTG -3'
(R):5'- TGTGGATCATACACTTTGCCTG -3'

Sequencing Primer
(F):5'- ACAGGGTTTATCACATAGTCCTGGC -3'
(R):5'- GGATCATACACTTTGCCTGTTTATC -3'

Posted On

2015-10-21