Mutagenetix > Incidental Mutation

Incidental Mutation 'R5195:Hmgn2'

400067

Institutional Source

Beutler Lab

Gene Symbol

Hmgn2

Ensembl Gene

ENSMUSG00000003038

Gene Name

high mobility group nucleosomal binding domain 2

Synonyms

HMG-17, Hmg17

MMRRC Submission

042771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5195 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

133692050-133695302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 133694597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 8 (A8S)

Ref Sequence

ENSEMBL: ENSMUSP00000101513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012262] [ENSMUST00000100472] [ENSMUST00000102552] [ENSMUST00000102553] [ENSMUST00000105885] [ENSMUST00000105886] [ENSMUST00000105887] [ENSMUST00000105893] [ENSMUST00000130464] [ENSMUST00000144668] [ENSMUST00000105889] [ENSMUST00000136327]

AlphaFold

P09602

Predicted Effect

probably benign
Transcript: ENSMUST00000012262

SMART Domains

Protein: ENSMUSP00000012262
Gene: ENSMUSG00000012117

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	256	1.5e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100472

SMART Domains

Protein: ENSMUSP00000098040
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	2	88	1.67e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102552

SMART Domains

Protein: ENSMUSP00000099612
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	2	86	4.6e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102553

SMART Domains

Protein: ENSMUSP00000099613
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	2	86	4.6e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105885

SMART Domains

Protein: ENSMUSP00000101509
Gene: ENSMUSG00000012117

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	149	5.2e-42	PFAM
Pfam:Prenyltransf	145	222	1.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105886

SMART Domains

Protein: ENSMUSP00000101510
Gene: ENSMUSG00000012117

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	109	9.8e-32	PFAM
Pfam:Prenyltransf	104	217	6.2e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105887

SMART Domains

Protein: ENSMUSP00000101511
Gene: ENSMUSG00000012117

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	255	6.4e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105893
AA Change: A8S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101513
Gene: ENSMUSG00000003038
AA Change: A8S

Domain	Start	End	E-Value	Type
HMG17	12	92	1.13e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134096

Predicted Effect

probably benign
Transcript: ENSMUST00000123234

SMART Domains

Protein: ENSMUSP00000120795
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	28	108	1.13e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130464

SMART Domains

Protein: ENSMUSP00000121656
Gene: ENSMUSG00000012117

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	1	54	1.8e-8	PFAM
Pfam:Prenyltransf	50	99	2.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144668

SMART Domains

Protein: ENSMUSP00000116098
Gene: ENSMUSG00000012117

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	256	1.5e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105889

SMART Domains

Protein: ENSMUSP00000101512
Gene: ENSMUSG00000012117

Domain	Start	End	E-Value	Type
Pfam:Prenyltransf	32	256	5.6e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136327

SMART Domains

Protein: ENSMUSP00000114704
Gene: ENSMUSG00000003038

Domain	Start	End	E-Value	Type
HMG17	2	86	1.99e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153622

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	T	C	13: 107,551,053 (GRCm39)		noncoding transcript	Het
Arhgef40	T	A	14: 52,227,269 (GRCm39)	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,601,305 (GRCm39)	L358P	possibly damaging	Het
Bicra	G	A	7: 15,713,878 (GRCm39)	P775S	possibly damaging	Het
Ccdc78	T	A	17: 26,008,962 (GRCm39)		probably null	Het
Ccnb1-ps	T	A	7: 41,755,522 (GRCm39)		noncoding transcript	Het
Cct6a	A	T	5: 129,871,718 (GRCm39)		noncoding transcript	Het
Cep120	T	A	18: 53,854,770 (GRCm39)	H455L	probably damaging	Het
Cobl	C	T	11: 12,203,565 (GRCm39)	V964I	probably benign	Het
Cpt1a	A	T	19: 3,433,800 (GRCm39)	I761F	possibly damaging	Het
Crk	T	A	11: 75,570,289 (GRCm39)	Y14N	probably damaging	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Fanca	A	G	8: 124,030,684 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,267,398 (GRCm39)	D507V	probably benign	Het
Gtf2i	A	T	5: 134,273,686 (GRCm39)	L740*	probably null	Het
Hook2	A	T	8: 85,721,405 (GRCm39)	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,713,510 (GRCm39)	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,449,889 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,486,145 (GRCm39)	F469I	probably damaging	Het
Kbtbd3	G	C	9: 4,316,905 (GRCm39)	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,677 (GRCm39)	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,557,572 (GRCm39)	E96G	possibly damaging	Het
Kptn	A	G	7: 15,857,028 (GRCm39)	Y172C	probably damaging	Het
Krt86	T	A	15: 101,374,814 (GRCm39)	M328K	probably benign	Het
Lama1	A	G	17: 68,071,795 (GRCm39)	D894G	probably benign	Het
Lars2	T	C	9: 123,282,375 (GRCm39)	V653A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lhcgr	A	T	17: 89,050,374 (GRCm39)	V384D	probably damaging	Het
Malrd1	C	T	2: 16,155,621 (GRCm39)	T2010M	unknown	Het
Maml2	T	A	9: 13,532,410 (GRCm39)	N541K	probably damaging	Het
Med24	T	C	11: 98,601,107 (GRCm39)	K585R	possibly damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Mylk	T	A	16: 34,799,585 (GRCm39)	F1658L	probably damaging	Het
Obscn	C	T	11: 58,951,676 (GRCm39)	V4392I	possibly damaging	Het
Or10d5	A	G	9: 39,861,975 (GRCm39)	S31P	probably benign	Het
Or11g2	T	C	14: 50,856,243 (GRCm39)	L188P	probably damaging	Het
Pcnx2	A	T	8: 126,528,288 (GRCm39)	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,974 (GRCm39)	L521P	probably damaging	Het
Pde4a	A	G	9: 21,115,629 (GRCm39)	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,413,854 (GRCm39)	L103*	probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Polr2a	T	C	11: 69,634,905 (GRCm39)	Y618C	probably damaging	Het
Pramel16	T	A	4: 143,677,450 (GRCm39)	E43V	probably damaging	Het
Pramel5	T	A	4: 143,998,311 (GRCm39)	M311L	probably benign	Het
Rbbp8	T	C	18: 11,855,208 (GRCm39)	F478L	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryk	T	C	9: 102,744,812 (GRCm39)	V122A	probably benign	Het
Sik3	G	T	9: 46,120,142 (GRCm39)		probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc35e4	T	A	11: 3,862,872 (GRCm39)	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,610,653 (GRCm39)	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,044,134 (GRCm39)	K32N	probably damaging	Het
Spag17	T	C	3: 100,008,704 (GRCm39)	Y1945H	probably benign	Het
St7	A	G	6: 17,743,636 (GRCm39)		probably benign	Het
Stab1	C	A	14: 30,862,478 (GRCm39)		probably benign	Het
Taf13	G	A	3: 108,488,390 (GRCm39)	R91Q	probably damaging	Het
Tmem200a	T	C	10: 25,954,854 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,885,489 (GRCm39)	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,661,852 (GRCm39)	H439R	probably damaging	Het
Trpm1	T	C	7: 63,887,441 (GRCm39)	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,786,378 (GRCm39)	A831T	probably benign	Het
Wdr89	C	T	12: 75,680,062 (GRCm39)	R64Q	probably benign	Het
Zbed5	G	T	5: 129,931,019 (GRCm39)	V323F	probably benign	Het
Zeb2	T	C	2: 44,891,647 (GRCm39)	R287G	probably damaging	Het

Other mutations in Hmgn2

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02408:Hmgn2	APN	4	133,693,260 (GRCm39)	critical splice donor site	probably null
R4577:Hmgn2	UTSW	4	133,694,668 (GRCm39)	unclassified	probably benign
R5504:Hmgn2	UTSW	4	133,694,114 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAACTTAACAGCAACCGTC -3'
(R):5'- TGTTGGCAGCTGTTTATCCC -3'

Sequencing Primer
(F):5'- ACACCCAAGTTTTATATAAGAAGCC -3'
(R):5'- AGCGGGCGATTCAAACC -3'

Posted On

2016-07-06