Mutagenetix > Incidental Mutation

Incidental Mutation 'R4030:Hmgb1'

313163

Institutional Source

Beutler Lab

Gene Symbol

Hmgb1

Ensembl Gene

ENSMUSG00000066551

Gene Name

high mobility group box 1

Synonyms

Hmg1, DEF, HMG-1, amphoterin, p30, SBP-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R4030 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

148983512-148989867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148987510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 13 (M13T)

Ref Sequence

ENSEMBL: ENSMUSP00000144129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085546] [ENSMUST00000093196] [ENSMUST00000110505] [ENSMUST00000125605] [ENSMUST00000138553] [ENSMUST00000139443] [ENSMUST00000202133]

AlphaFold

P63158

Predicted Effect

probably benign
Transcript: ENSMUST00000085546
AA Change: M13T

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000082682
Gene: ENSMUSG00000066551
AA Change: M13T

Domain	Start	End	E-Value	Type
HMG	8	80	8.61e-26	SMART
HMG	94	164	3.98e-30	SMART
coiled coil region	175	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093196
AA Change: M13T

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106131
Gene: ENSMUSG00000066551
AA Change: M13T

Domain	Start	End	E-Value	Type
HMG	8	80	8.61e-26	SMART
HMG	94	164	3.98e-30	SMART
coiled coil region	175	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110505
AA Change: M13T

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106132
Gene: ENSMUSG00000066551
AA Change: M13T

Domain	Start	End	E-Value	Type
HMG	8	80	8.61e-26	SMART
HMG	94	164	3.98e-30	SMART
coiled coil region	175	215	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123645

Predicted Effect

probably benign
Transcript: ENSMUST00000125605
AA Change: M13T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114515
Gene: ENSMUSG00000066551
AA Change: M13T

Domain	Start	End	E-Value	Type
HMG	8	80	8.61e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133667

Predicted Effect

probably benign
Transcript: ENSMUST00000138553
AA Change: M13T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000118733
Gene: ENSMUSG00000066551
AA Change: M13T

Domain	Start	End	E-Value	Type
HMG	8	80	8.61e-26	SMART
Pfam:HMG_box	95	125	5.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139443
AA Change: M13T

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144129
Gene: ENSMUSG00000066551
AA Change: M13T

Domain	Start	End	E-Value	Type
HMG	8	80	3.6e-28	SMART
HMG	94	164	3.2e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202133
AA Change: M27T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144412
Gene: ENSMUSG00000066551
AA Change: M27T

Domain	Start	End	E-Value	Type
HMG	22	94	3.6e-28	SMART
HMG	108	178	1.7e-32	SMART
low complexity region	183	210	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155086

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display partial or complete neonatal lethality due to hypoglycemia depending on the strain background, with open eyelids at birth, atelectasis, and lethargy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,668 (GRCm39)	S54P	probably benign	Het
2700062C07Rik	C	T	18: 24,608,715 (GRCm39)	P145L	probably benign	Het
Akap3	A	T	6: 126,841,984 (GRCm39)	D201V	probably damaging	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Bpifb2	T	C	2: 153,733,237 (GRCm39)	S400P	probably benign	Het
Brd7	A	T	8: 89,059,559 (GRCm39)	I617N	probably damaging	Het
Cdhr2	C	A	13: 54,865,674 (GRCm39)	P224Q	probably damaging	Het
Cdon	A	G	9: 35,403,202 (GRCm39)	N1104S	probably damaging	Het
Ceacam3	T	C	7: 16,892,267 (GRCm39)	Y337H	probably benign	Het
Chrna5	T	C	9: 54,905,370 (GRCm39)	W61R	probably damaging	Het
Cntnap2	C	A	6: 46,833,062 (GRCm39)	F758L	probably benign	Het
Cpsf1	G	A	15: 76,485,979 (GRCm39)	T397M	possibly damaging	Het
Crhr2	T	C	6: 55,094,662 (GRCm39)	D32G	probably benign	Het
Dip2b	A	G	15: 100,084,053 (GRCm39)	Y892C	probably damaging	Het
Dpyd	A	G	3: 118,690,815 (GRCm39)	D308G	probably benign	Het
Dsp	A	G	13: 38,375,404 (GRCm39)	N1063S	possibly damaging	Het
E030030I06Rik	C	A	10: 22,024,899 (GRCm39)	G5C	unknown	Het
Ehbp1	T	C	11: 22,235,498 (GRCm39)	T32A	probably damaging	Het
Fbxo9	C	A	9: 78,005,623 (GRCm39)		probably null	Het
Gpatch3	G	A	4: 133,305,458 (GRCm39)	R231H	possibly damaging	Het
Gpr68	A	G	12: 100,845,475 (GRCm39)	L23P	probably damaging	Het
H2-Q6	C	A	17: 35,644,792 (GRCm39)	Q194K	probably benign	Het
Kdm5a	T	A	6: 120,382,074 (GRCm39)	L706*	probably null	Het
Krt12	A	T	11: 99,312,854 (GRCm39)	F63L	unknown	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Lgr4	T	C	2: 109,820,096 (GRCm39)	S102P	probably benign	Het
Loxl4	A	T	19: 42,596,798 (GRCm39)	V71E	probably damaging	Het
Lrrc36	A	C	8: 106,153,439 (GRCm39)	N83T	probably damaging	Het
Med26	G	A	8: 73,250,413 (GRCm39)	R229C	probably damaging	Het
Mgam	G	A	6: 40,731,836 (GRCm39)	R1351Q	probably damaging	Het
Mroh8	T	A	2: 157,055,640 (GRCm39)	D986V	probably damaging	Het
Mrpl49	T	C	19: 6,105,230 (GRCm39)	D77G	probably benign	Het
Mrps30	T	C	13: 118,517,077 (GRCm39)	N381D	probably damaging	Het
Mrtfa	G	A	15: 80,899,985 (GRCm39)	T729I	probably benign	Het
Omd	T	A	13: 49,743,125 (GRCm39)	N58K	probably benign	Het
Oog4	A	T	4: 143,166,770 (GRCm39)	N11K	probably benign	Het
Or4a75	C	A	2: 89,448,207 (GRCm39)	V110F	probably damaging	Het
Plpp5	T	A	8: 26,210,631 (GRCm39)	L74Q	probably damaging	Het
Pramel28	T	A	4: 143,692,354 (GRCm39)	T216S	probably benign	Het
Prex2	T	A	1: 11,278,792 (GRCm39)	Y1374N	probably benign	Het
Rbak	A	T	5: 143,159,724 (GRCm39)	I443K	probably damaging	Het
Rhpn1	A	T	15: 75,582,406 (GRCm39)	S195C	probably damaging	Het
Rnf115	T	A	3: 96,693,299 (GRCm39)	I210N	probably damaging	Het
Rock2	G	A	12: 17,025,480 (GRCm39)	V1234I	probably damaging	Het
Scube2	A	G	7: 109,430,978 (GRCm39)	V407A	probably benign	Het
Serpina3n	G	T	12: 104,377,660 (GRCm39)		probably null	Het
Shisal2a	G	T	4: 108,240,412 (GRCm39)	C43*	probably null	Het
Slco2b1	A	G	7: 99,332,032 (GRCm39)	L283P	probably damaging	Het
Spag1	G	A	15: 36,234,447 (GRCm39)	V736M	probably damaging	Het
Srebf2	T	A	15: 82,062,984 (GRCm39)	C434S	probably damaging	Het
Ston2	T	C	12: 91,615,037 (GRCm39)	Q457R	possibly damaging	Het
Trhr2	T	C	8: 123,087,438 (GRCm39)	M1V	probably null	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn2r105	T	C	17: 20,429,016 (GRCm39)	R687G	probably damaging	Het
Vmn2r73	T	C	7: 85,521,044 (GRCm39)	Y308C	possibly damaging	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Zfyve9	A	G	4: 108,576,898 (GRCm39)	V61A	possibly damaging	Het

Other mutations in Hmgb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03092:Hmgb1	APN	5	148,987,508 (GRCm39)	missense	probably benign	0.25
R0335:Hmgb1	UTSW	5	148,987,441 (GRCm39)	missense	probably benign	0.41
R6885:Hmgb1	UTSW	5	148,987,471 (GRCm39)	missense	probably benign	0.33
R6962:Hmgb1	UTSW	5	148,985,633 (GRCm39)	unclassified	probably benign
R7625:Hmgb1	UTSW	5	148,987,150 (GRCm39)	missense	probably benign	0.09
R8311:Hmgb1	UTSW	5	148,987,427 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CAGCCCGTTCATCCTAATTTACAAC -3'
(R):5'- TCATCTCTGTGGCTTAACCG -3'

Sequencing Primer
(F):5'- TCATCCTAATTTACAACTCAGAGGC -3'
(R):5'- AACCGCTTCTAGGAATTGGC -3'

Posted On

2015-04-30