Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02085:Hmg20a'

283523

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hmg20a

Ensembl Gene

ENSMUSG00000032329

Gene Name

high mobility group 20A

Synonyms

5730490E10Rik, Hmgxb1, 1200004E06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02085

Quality Score

Status

Chromosome

Chromosomal Location

56325893-56404220 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 56384586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 119 (Q119*)

Ref Sequence

ENSEMBL: ENSMUSP00000149359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034879] [ENSMUST00000213242] [ENSMUST00000214771] [ENSMUST00000214869] [ENSMUST00000215269] [ENSMUST00000217518]

AlphaFold

Q9DC33

Predicted Effect

probably null
Transcript: ENSMUST00000034879
AA Change: Q119*

SMART Domains

Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: Q119*

Domain	Start	End	E-Value	Type
low complexity region	80	94	N/A	INTRINSIC
HMG	101	171	1.86e-21	SMART
coiled coil region	228	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213242

Predicted Effect

probably null
Transcript: ENSMUST00000214771
AA Change: Q119*

Predicted Effect

probably benign
Transcript: ENSMUST00000214869

Predicted Effect

probably null
Transcript: ENSMUST00000215269
AA Change: Q119*

Predicted Effect

probably null
Transcript: ENSMUST00000217518
AA Change: Q119*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,192,854 (GRCm39)		probably null	Het
Akr1c14	T	A	13: 4,128,035 (GRCm39)	C145*	probably null	Het
Arhgef26	A	G	3: 62,367,145 (GRCm39)		probably benign	Het
Asb9	A	G	X: 163,318,452 (GRCm39)	M215V	probably benign	Het
Atoh8	C	A	6: 72,212,157 (GRCm39)		probably benign	Het
Atp6v1b1	T	A	6: 83,730,897 (GRCm39)		probably benign	Het
Cep97	T	C	16: 55,735,868 (GRCm39)	E310G	probably damaging	Het
Ctrc	C	T	4: 141,571,025 (GRCm39)	D72N	possibly damaging	Het
Dnah2	A	G	11: 69,349,011 (GRCm39)	I2492T	probably benign	Het
Emilin2	A	G	17: 71,582,144 (GRCm39)	V194A	probably damaging	Het
Epb41l5	T	C	1: 119,500,586 (GRCm39)	T524A	probably benign	Het
Fam91a1	A	G	15: 58,313,505 (GRCm39)	N497S	possibly damaging	Het
Gabpb1	A	T	2: 126,481,191 (GRCm39)	C319*	probably null	Het
Galnt10	A	G	11: 57,673,104 (GRCm39)	T487A	probably benign	Het
Hecw2	T	A	1: 53,981,961 (GRCm39)		probably null	Het
Ifi44l	A	G	3: 151,468,477 (GRCm39)	S18P	unknown	Het
Immt	T	A	6: 71,828,820 (GRCm39)	V125E	probably benign	Het
Ints13	T	C	6: 146,451,437 (GRCm39)		probably benign	Het
Lrp1b	C	T	2: 40,779,321 (GRCm39)	G2574S	probably benign	Het
Myoc	T	C	1: 162,467,343 (GRCm39)	C171R	probably benign	Het
Ncbp1	C	T	4: 46,159,699 (GRCm39)	T404M	probably damaging	Het
Npy6r	A	G	18: 44,408,998 (GRCm39)	N140D	probably damaging	Het
Nrxn2	A	T	19: 6,542,898 (GRCm39)	M1041L	possibly damaging	Het
Nsmaf	G	A	4: 6,398,551 (GRCm39)	P851L	probably benign	Het
Nutm2	T	A	13: 50,627,829 (GRCm39)		probably null	Het
Or10ak8	A	G	4: 118,773,947 (GRCm39)	F239S	probably damaging	Het
Or2g25	A	G	17: 37,970,579 (GRCm39)	V215A	probably benign	Het
Or4f61	A	C	2: 111,922,869 (GRCm39)	M59R	probably damaging	Het
Padi2	T	G	4: 140,654,468 (GRCm39)	Y206*	probably null	Het
Pcdh19	A	T	X: 132,582,007 (GRCm39)	Y766*	probably null	Het
Pde12	A	G	14: 26,387,619 (GRCm39)		probably benign	Het
Ppl	C	T	16: 4,907,680 (GRCm39)	G872R	probably benign	Het
Prkag3	C	T	1: 74,787,971 (GRCm39)		probably benign	Het
Ptgfr	T	C	3: 151,541,437 (GRCm39)	T24A	probably benign	Het
Rpe65	T	C	3: 159,321,283 (GRCm39)	V365A	probably benign	Het
Shank3	T	C	15: 89,388,118 (GRCm39)		probably null	Het
Slco1a6	T	C	6: 142,032,200 (GRCm39)	T642A	probably benign	Het
Slco6d1	C	A	1: 98,371,468 (GRCm39)	P275T	probably damaging	Het
Smarca1	G	T	X: 46,964,109 (GRCm39)	Q343K	probably damaging	Het
Smoc2	A	G	17: 14,567,495 (GRCm39)	T180A	possibly damaging	Het
Tfrc	G	A	16: 32,440,004 (GRCm39)	V406I	probably benign	Het
Tigit	C	T	16: 43,469,473 (GRCm39)	G206D	probably benign	Het
Triobp	G	A	15: 78,858,497 (GRCm39)		probably benign	Het
Trmo	T	C	4: 46,380,217 (GRCm39)	Y384C	probably damaging	Het
Vmn1r89	T	A	7: 12,953,465 (GRCm39)	I67N	probably damaging	Het
Wdr17	C	A	8: 55,140,771 (GRCm39)	E194*	probably null	Het

Other mutations in Hmg20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Hmg20a	APN	9	56,394,934 (GRCm39)	missense	probably damaging	1.00
IGL01981:Hmg20a	APN	9	56,384,514 (GRCm39)	missense	probably damaging	1.00
IGL03284:Hmg20a	APN	9	56,388,901 (GRCm39)	missense	probably benign	0.25
ANU22:Hmg20a	UTSW	9	56,394,934 (GRCm39)	missense	probably damaging	1.00
P0033:Hmg20a	UTSW	9	56,397,108 (GRCm39)	missense	probably benign	0.01
R0369:Hmg20a	UTSW	9	56,394,934 (GRCm39)	missense	probably damaging	1.00
R0710:Hmg20a	UTSW	9	56,381,954 (GRCm39)	missense	possibly damaging	0.84
R1405:Hmg20a	UTSW	9	56,384,587 (GRCm39)	missense	possibly damaging	0.66
R1405:Hmg20a	UTSW	9	56,384,587 (GRCm39)	missense	possibly damaging	0.66
R1546:Hmg20a	UTSW	9	56,374,685 (GRCm39)	missense	possibly damaging	0.56
R2188:Hmg20a	UTSW	9	56,384,584 (GRCm39)	missense	possibly damaging	0.93
R4730:Hmg20a	UTSW	9	56,374,703 (GRCm39)	missense	possibly damaging	0.85
R4956:Hmg20a	UTSW	9	56,388,948 (GRCm39)	missense	probably damaging	1.00
R6115:Hmg20a	UTSW	9	56,397,116 (GRCm39)	missense	possibly damaging	0.95
R6130:Hmg20a	UTSW	9	56,395,891 (GRCm39)	splice site	probably null
R6152:Hmg20a	UTSW	9	56,388,892 (GRCm39)	missense	probably damaging	1.00
R6961:Hmg20a	UTSW	9	56,396,012 (GRCm39)	missense	probably benign	0.29
R7499:Hmg20a	UTSW	9	56,396,227 (GRCm39)	missense	unknown
R9567:Hmg20a	UTSW	9	56,384,472 (GRCm39)	missense	probably benign	0.06
R9689:Hmg20a	UTSW	9	56,381,823 (GRCm39)	missense	possibly damaging	0.68

Posted On

2015-04-16