Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02752:Hmgb4'

304225

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hmgb4

Ensembl Gene

ENSMUSG00000048686

Gene Name

high-mobility group box 4

Synonyms

1700001F22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02752

Quality Score

Status

Chromosome

Chromosomal Location

128154005-128154688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128154134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 145 (K145E)

Ref Sequence

ENSEMBL: ENSMUSP00000059625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053830] [ENSMUST00000184063]

AlphaFold

Q6P8W9

Predicted Effect

probably damaging
Transcript: ENSMUST00000053830
AA Change: K145E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059625
Gene: ENSMUSG00000048686
AA Change: K145E

Domain	Start	End	E-Value	Type
HMG	8	80	7.01e-17	SMART
HMG	92	162	3.99e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144298

Predicted Effect

probably benign
Transcript: ENSMUST00000184063

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	A	15: 84,840,042 (GRCm39)	E145*	probably null	Het
Abca9	A	G	11: 110,018,194 (GRCm39)	F1142S	probably damaging	Het
Bod1l	T	C	5: 41,973,806 (GRCm39)	T2503A	possibly damaging	Het
Bpi	A	G	2: 158,104,344 (GRCm39)	D149G	probably damaging	Het
Cntnap5a	A	G	1: 116,508,261 (GRCm39)	T1258A	probably benign	Het
Col4a3	A	G	1: 82,637,946 (GRCm39)	D256G	unknown	Het
Cul5	T	C	9: 53,546,278 (GRCm39)	T338A	probably damaging	Het
Efs	A	G	14: 55,154,880 (GRCm39)	V453A	probably damaging	Het
Fbxw19	T	A	9: 109,323,709 (GRCm39)	N89Y	probably benign	Het
Fbxw8	A	G	5: 118,280,815 (GRCm39)	F114S	probably damaging	Het
Flnb	A	G	14: 7,917,338 (GRCm38)	I1606V	probably benign	Het
Gpr158	A	G	2: 21,831,638 (GRCm39)	T913A	possibly damaging	Het
Gtf2f1	A	T	17: 57,316,682 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,387,678 (GRCm39)	*1059L	probably null	Het
Igf2bp2	T	A	16: 21,898,860 (GRCm39)	M250L	probably benign	Het
Igkv14-111	A	G	6: 68,233,561 (GRCm39)	K21E	probably benign	Het
Il6st	C	T	13: 112,616,729 (GRCm39)	T92I	probably damaging	Het
Jak3	G	T	8: 72,135,595 (GRCm39)	V581L	possibly damaging	Het
Kank2	C	T	9: 21,706,329 (GRCm39)	V230M	probably damaging	Het
Kif1a	G	A	1: 92,967,569 (GRCm39)	A1123V	possibly damaging	Het
Kpna4	T	A	3: 69,002,863 (GRCm39)	R125*	probably null	Het
Mybpc3	A	T	2: 90,962,982 (GRCm39)		probably null	Het
Ntn4	T	C	10: 93,546,421 (GRCm39)	V358A	possibly damaging	Het
Pacsin1	A	T	17: 27,921,672 (GRCm39)		probably null	Het
Pcsk2	A	G	2: 143,615,865 (GRCm39)	N221S	probably benign	Het
Pik3cg	A	G	12: 32,254,262 (GRCm39)	L575P	probably damaging	Het
Pkhd1	A	T	1: 20,623,815 (GRCm39)	V760E	possibly damaging	Het
Plxnc1	T	C	10: 94,630,542 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,073,341 (GRCm39)	T217A	probably benign	Het
Rictor	A	G	15: 6,816,852 (GRCm39)	T1375A	probably benign	Het
Scn1a	A	G	2: 66,161,756 (GRCm39)	I264T	probably damaging	Het
Sez6l2	T	C	7: 126,552,905 (GRCm39)	S164P	probably damaging	Het
Slc31a1	C	T	4: 62,303,869 (GRCm39)		probably benign	Het
Slc45a1	T	C	4: 150,722,478 (GRCm39)	N469D	probably benign	Het
Slco1a5	T	C	6: 142,208,438 (GRCm39)	T76A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stfa3	G	A	16: 36,270,999 (GRCm39)	T95I	probably damaging	Het
Stk11ip	A	C	1: 75,501,325 (GRCm39)		probably null	Het
Tcn2	C	A	11: 3,876,158 (GRCm39)	S90I	possibly damaging	Het
Traf1	A	G	2: 34,848,020 (GRCm39)	S25P	probably benign	Het
Ttn	G	T	2: 76,622,125 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,798,283 (GRCm39)	I2041N	probably damaging	Het
Zfp512b	A	T	2: 181,229,864 (GRCm39)	D556E	possibly damaging	Het
Zfpm2	T	A	15: 40,965,415 (GRCm39)	D633E	probably benign	Het

Other mutations in Hmgb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Hmgb4	APN	4	128,154,082 (GRCm39)	missense	probably benign	0.00
IGL01701:Hmgb4	APN	4	128,154,166 (GRCm39)	missense	probably benign	0.01
IGL01805:Hmgb4	APN	4	128,154,015 (GRCm39)	intron	probably benign
IGL02945:Hmgb4	APN	4	128,154,387 (GRCm39)	nonsense	probably null
IGL03210:Hmgb4	APN	4	128,154,535 (GRCm39)	missense	probably benign	0.18
R0012:Hmgb4	UTSW	4	128,154,518 (GRCm39)	missense	probably damaging	0.99
R0012:Hmgb4	UTSW	4	128,154,518 (GRCm39)	missense	probably damaging	0.99
R2178:Hmgb4	UTSW	4	128,154,275 (GRCm39)	missense	probably damaging	1.00
R6565:Hmgb4	UTSW	4	128,154,388 (GRCm39)	missense	probably benign	0.29
R7454:Hmgb4	UTSW	4	128,154,199 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16