Mutagenetix > Incidental Mutation

Incidental Mutation 'R7625:Hmgb1'

589378

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

MMRRC Submission

045719-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7625 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

148983512-148989867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148987150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 84 (E84G)

Ref Sequence

ENSEMBL: ENSMUSP00000082682 (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: E84G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000082682
Gene: ENSMUSG00000066551
AA Change: E84G

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: E84G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106131
Gene: ENSMUSG00000066551
AA Change: E84G

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: E84G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106132
Gene: ENSMUSG00000066551
AA Change: E84G

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: ENSMUST00000125605
AA Change: E84G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114515
Gene: ENSMUSG00000066551
AA Change: E84G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138553
AA Change: E84G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118733
Gene: ENSMUSG00000066551
AA Change: E84G

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: E84G

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

SMART Domains

Protein: ENSMUSP00000144129
Gene: ENSMUSG00000066551
AA Change: E84G

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: E98G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144412
Gene: ENSMUSG00000066551
AA Change: E98G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (59/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,773,587 (GRCm39)	V506E	probably damaging	Het
Acaa2	G	T	18: 74,937,213 (GRCm39)	V366F	possibly damaging	Het
Ago1	G	A	4: 126,337,022 (GRCm39)	R532C	probably benign	Het
Ank2	T	G	3: 126,846,449 (GRCm39)	D182A	probably damaging	Het
Anxa4	T	C	6: 86,714,801 (GRCm39)	D302G	probably damaging	Het
Apoa4	A	T	9: 46,154,410 (GRCm39)	E337V	probably damaging	Het
Atf1	A	G	15: 100,152,158 (GRCm39)		probably null	Het
Atp8b3	A	C	10: 80,355,980 (GRCm39)	V1244G	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camk2a	G	A	18: 61,085,412 (GRCm39)	V132M	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Chd8	G	A	14: 52,474,534 (GRCm39)	P166S	probably benign	Het
Chl1	T	A	6: 103,706,086 (GRCm39)	S1140R	probably damaging	Het
Clstn3	G	T	6: 124,414,377 (GRCm39)	S783*	probably null	Het
Col6a1	A	G	10: 76,549,760 (GRCm39)	S562P	unknown	Het
Cpb2	G	A	14: 75,509,989 (GRCm39)	V250M	possibly damaging	Het
Cyp2c38	T	A	19: 39,451,368 (GRCm39)	Q44L	possibly damaging	Het
Dgat1	T	C	15: 76,387,395 (GRCm39)	M325V	possibly damaging	Het
Dnah11	T	A	12: 118,160,377 (GRCm39)	M118L	probably benign	Het
Dpy19l3	T	A	7: 35,452,106 (GRCm39)	I13L	probably benign	Het
Enkd1	A	G	8: 106,431,265 (GRCm39)		probably null	Het
Fam241b	A	G	10: 61,970,479 (GRCm39)		probably benign	Het
Fhit	T	A	14: 9,870,177 (GRCm38)		probably null	Het
Gp6	T	C	7: 4,373,173 (GRCm39)	E250G	probably benign	Het
Hscb	T	A	5: 110,977,012 (GRCm39)	I227F	probably damaging	Het
Hspg2	T	A	4: 137,292,249 (GRCm39)	L4047Q	probably damaging	Het
Hsph1	A	G	5: 149,541,901 (GRCm39)	L775P	probably benign	Het
Hydin	A	T	8: 111,268,476 (GRCm39)	S2947C	probably benign	Het
Intu	T	C	3: 40,652,029 (GRCm39)	S829P	probably benign	Het
Kcnn3	C	A	3: 89,516,977 (GRCm39)	T462K	probably damaging	Het
Kndc1	G	A	7: 139,517,930 (GRCm39)	C1622Y	possibly damaging	Het
Lifr	T	C	15: 7,198,723 (GRCm39)	Y318H	probably damaging	Het
Mier2	A	G	10: 79,378,543 (GRCm39)	S332P	probably damaging	Het
Mindy4	T	C	6: 55,253,598 (GRCm39)	I489T	possibly damaging	Het
Mmp8	A	T	9: 7,566,218 (GRCm39)	Q358L	probably benign	Het
Ms4a4a	T	A	19: 11,367,728 (GRCm39)		probably null	Het
Nav1	G	C	1: 135,395,483 (GRCm39)	S962C	probably damaging	Het
Nfe2l1	G	A	11: 96,710,271 (GRCm39)	R653C	probably damaging	Het
Nherf4	A	T	9: 44,161,594 (GRCm39)	I95N	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Nrf1	G	A	6: 30,116,230 (GRCm39)	V301I	probably benign	Het
Oog1	T	C	12: 87,655,082 (GRCm39)	F410S	probably benign	Het
Or52a33	A	G	7: 103,289,165 (GRCm39)	Y61H	probably damaging	Het
Or6k4	G	A	1: 173,964,733 (GRCm39)	C141Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,954 (GRCm39)	V337I	probably benign	Het
Pelp1	G	T	11: 70,286,260 (GRCm39)	N572K	probably benign	Het
Pikfyve	T	C	1: 65,307,036 (GRCm39)	V1808A	possibly damaging	Het
Pirt	A	C	11: 66,816,769 (GRCm39)	S27R	probably damaging	Het
Pramel20	A	T	4: 143,298,821 (GRCm39)	I255L	probably benign	Het
Rgs17	A	T	10: 5,791,488 (GRCm39)	D96E	probably benign	Het
Senp1	A	G	15: 97,964,679 (GRCm39)	F206L	probably benign	Het
Sh3rf1	T	A	8: 61,825,756 (GRCm39)	S584T	probably benign	Het
Tex44	A	T	1: 86,354,459 (GRCm39)	K123*	probably null	Het
Tpst2	C	A	5: 112,455,887 (GRCm39)	T142K	probably damaging	Het
Ttc28	G	A	5: 111,433,085 (GRCm39)	G2040R	possibly damaging	Het
Uggt2	T	A	14: 119,263,905 (GRCm39)	I1042F	probably damaging	Het
Vmn2r91	T	C	17: 18,325,693 (GRCm39)	S104P	probably damaging	Het
Wdfy3	T	C	5: 102,003,252 (GRCm39)		probably null	Het
Zeb2	G	A	2: 44,892,584 (GRCm39)	A223V	probably damaging	Het
Zfp1002	T	C	2: 150,096,520 (GRCm39)	D303G	probably benign	Het
Zfp566	A	G	7: 29,777,930 (GRCm39)	S84P	probably benign	Het
Zfp994	T	A	17: 22,420,736 (GRCm39)	H71L	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
R4030:Hmgb1	UTSW	5	148,987,510 (GRCm39)	missense	probably benign	0.28
R6885:Hmgb1	UTSW	5	148,987,471 (GRCm39)	missense	probably benign	0.33
R6962:Hmgb1	UTSW	5	148,985,633 (GRCm39)	unclassified	probably benign
R8311:Hmgb1	UTSW	5	148,987,427 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GTTACATTGACCCCTCAAATACACG -3'
(R):5'- AGATGCTGAGTGCCTCTGAG -3'

Sequencing Primer
(F):5'- GACCCAAGCCATTCTCAGCTAAG -3'
(R):5'- CTGAGTGCCTCTGAGTTGTAAATTAG -3'

Posted On

2019-10-24