Mutagenetix > Incidental Mutation

Incidental Mutation 'R6962:Hmgb1'

541807

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

045072-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R6962 (G1)

Quality Score

98.0078

Status

Not validated

Chromosome

Chromosomal Location

148983512-148989867 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 148985633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144129 (fasta)

Gene Model

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

AlphaFold

P63158

Predicted Effect

unknown
Transcript: ENSMUST00000085546
AA Change: E188K

SMART Domains

Protein: ENSMUSP00000082682
Gene: ENSMUSG00000066551
AA Change: E188K

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

unknown
Transcript: ENSMUST00000093196
AA Change: E188K

SMART Domains

Protein: ENSMUSP00000106131
Gene: ENSMUSG00000066551
AA Change: E188K

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

unknown
Transcript: ENSMUST00000110505
AA Change: E188K

SMART Domains

Protein: ENSMUSP00000106132
Gene: ENSMUSG00000066551
AA Change: E188K

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

SMART Domains

Protein: ENSMUSP00000114515
Gene: ENSMUSG00000066551

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138553

SMART Domains

Protein: ENSMUSP00000118733
Gene: ENSMUSG00000066551

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

SMART Domains

Protein: ENSMUSP00000144129
Gene: ENSMUSG00000066551

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

Predicted Effect

unknown
Transcript: ENSMUST00000202133
AA Change: E202K

SMART Domains

Protein: ENSMUSP00000144412
Gene: ENSMUSG00000066551
AA Change: E202K

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: 99.2%
20x: 97.2%

Validation Efficiency

96% (74/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,150 (GRCm39)	K1016E	probably benign	Het
Abca3	T	C	17: 24,583,700 (GRCm39)	F30L	probably benign	Het
Arhgap17	C	T	7: 122,895,655 (GRCm39)	G490R	probably damaging	Het
Arsg	T	A	11: 109,412,495 (GRCm39)	L140H	probably damaging	Het
Bmp2k	T	A	5: 97,179,097 (GRCm39)	C130*	probably null	Het
C4b	T	C	17: 34,951,140 (GRCm39)		probably null	Het
Cdk5r2	A	G	1: 74,894,975 (GRCm39)	Y240C	probably damaging	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Col27a1	A	G	4: 63,237,738 (GRCm39)		probably benign	Het
Cubn	G	A	2: 13,352,840 (GRCm39)	S1966F	probably benign	Het
Dnajc13	T	C	9: 104,058,208 (GRCm39)	Y1509C	probably benign	Het
Dpp4	A	G	2: 62,203,174 (GRCm39)	V265A	probably benign	Het
Dync2i1	A	T	12: 116,175,398 (GRCm39)	D926E	probably damaging	Het
Fbxl8	C	A	8: 105,995,338 (GRCm39)	N283K	possibly damaging	Het
Fev	T	A	1: 74,921,299 (GRCm39)	Q122L	probably benign	Het
Fgd4	T	A	16: 16,301,951 (GRCm39)		probably null	Het
Fnip2	A	C	3: 79,396,610 (GRCm39)	L439R	probably damaging	Het
Git1	C	A	11: 77,395,469 (GRCm39)	Q389K	probably benign	Het
Gm10509	C	G	17: 21,909,833 (GRCm39)	I53M	possibly damaging	Het
Gm5773	A	T	3: 93,681,234 (GRCm39)	H302L	possibly damaging	Het
Greb1l	G	T	18: 10,547,327 (GRCm39)	R1515L	probably damaging	Het
Gsc2	T	C	16: 17,732,902 (GRCm39)	Y2C	possibly damaging	Het
H60b	A	G	10: 22,162,053 (GRCm39)	N93D	probably benign	Het
Hgf	G	A	5: 16,820,752 (GRCm39)	R633Q	probably benign	Het
Hmmr	T	C	11: 40,598,242 (GRCm39)	T657A	probably damaging	Het
Htt	G	T	5: 35,057,115 (GRCm39)		probably null	Het
Ift80	G	A	3: 68,901,878 (GRCm39)		probably benign	Het
Kcnq5	G	T	1: 21,576,017 (GRCm39)	T229K	probably damaging	Het
Kcp	C	T	6: 29,482,839 (GRCm39)	R1410Q	probably benign	Het
Klhl30	T	G	1: 91,285,137 (GRCm39)	V331G	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc37	G	A	11: 103,505,126 (GRCm39)	P105S	possibly damaging	Het
Macf1	C	T	4: 123,334,515 (GRCm39)	R2849Q	probably benign	Het
Mex3b	T	G	7: 82,518,473 (GRCm39)	S263A	probably benign	Het
Mrgpre	A	G	7: 143,334,799 (GRCm39)	S235P	probably damaging	Het
Myh14	A	T	7: 44,307,363 (GRCm39)	V226D	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nudt8	G	T	19: 4,051,831 (GRCm39)	L147F	probably damaging	Het
Or2aj5	T	A	16: 19,424,672 (GRCm39)	I249L	probably benign	Het
Or52e8	T	A	7: 104,624,580 (GRCm39)	N208I	probably benign	Het
Or5w17	A	G	2: 87,584,071 (GRCm39)	Y89H	probably benign	Het
Or6z7	A	T	7: 6,484,008 (GRCm39)	I49N	probably benign	Het
P4htm	C	A	9: 108,456,394 (GRCm39)	A469S	possibly damaging	Het
Pld4	A	T	12: 112,733,288 (GRCm39)	H288L	probably benign	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppcs	T	G	4: 119,279,375 (GRCm39)	N59T	probably damaging	Het
Ppm1k	A	T	6: 57,492,645 (GRCm39)	C214S	probably damaging	Het
Psg25	C	T	7: 18,263,679 (GRCm39)	G48E	probably damaging	Het
Rassf7	A	G	7: 140,797,503 (GRCm39)	T239A	possibly damaging	Het
Rgs3	G	T	4: 62,618,952 (GRCm39)		probably benign	Het
Scaper	T	C	9: 55,767,055 (GRCm39)	T465A	probably benign	Het
Slc4a7	G	T	14: 14,746,021 (GRCm38)	G405C	probably damaging	Het
Smpd3	T	C	8: 106,991,851 (GRCm39)	D234G	probably benign	Het
Spata31f1e	T	C	4: 42,793,323 (GRCm39)	T270A	probably damaging	Het
Ssc4d	A	G	5: 135,991,775 (GRCm39)		probably null	Het
Sugct	G	T	13: 17,032,606 (GRCm39)		probably null	Het
Taok2	C	A	7: 126,466,088 (GRCm39)		probably null	Het
Tbx20	A	G	9: 24,681,036 (GRCm39)	V152A	probably damaging	Het
Tbx4	A	G	11: 85,781,085 (GRCm39)	E66G	probably benign	Het
Thbs2	T	C	17: 14,902,082 (GRCm39)	E382G	probably benign	Het
Ticrr	T	G	7: 79,315,645 (GRCm39)	S300A	possibly damaging	Het
Trim46	A	G	3: 89,146,303 (GRCm39)	L396P	probably damaging	Het
Trim56	A	G	5: 137,141,501 (GRCm39)	F672L	probably damaging	Het
Ttf2	A	G	3: 100,858,453 (GRCm39)	L712S	probably damaging	Het
Unc93b1	T	G	19: 3,986,303 (GRCm39)	D112E	possibly damaging	Het
Usp17lc	T	C	7: 103,068,118 (GRCm39)	L471P	probably benign	Het
Vmn2r85	A	G	10: 130,261,452 (GRCm39)	I295T	probably damaging	Het
Vmn2r96	T	G	17: 18,818,283 (GRCm39)	I812S	probably damaging	Het
Wdr7	G	A	18: 63,998,359 (GRCm39)	C1102Y	possibly damaging	Het
Wnt9b	G	T	11: 103,624,515 (GRCm39)	Q92K	probably null	Het
Zbtb26	A	T	2: 37,326,106 (GRCm39)	M310K	possibly damaging	Het
Zdhhc1	T	C	8: 106,210,279 (GRCm39)	H46R	probably damaging	Het
Zfp628	G	T	7: 4,922,549 (GRCm39)	R257L	probably benign	Het
Zfp747l1	A	T	7: 126,983,487 (GRCm39)	D538E	possibly damaging	Het
Zmat4	A	G	8: 24,392,181 (GRCm39)	T46A	probably benign	Het
Zmiz2	T	A	11: 6,352,455 (GRCm39)	W637R	probably 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
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'- AGACACATTCGGTAGTGTGTTAAC -3'
(R):5'- AGGTACAATGGGCCTGTGTG -3'

Sequencing Primer
(F):5'- CACATTCGGTAGTGTGTTAACTATAC -3'
(R):5'- ACAATGGGCCTGTGTGTTGTG -3'

Posted On

2018-11-28