Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01305:Hmg20a'

73394

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 #

IGL01305

Quality Score

Status

Chromosome

Chromosomal Location

56325893-56404220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56394934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 216 (D216V)

Ref Sequence

ENSEMBL: ENSMUSP00000149359 (fasta)

Gene Model

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

AlphaFold

Q9DC33

Predicted Effect

probably damaging
Transcript: ENSMUST00000034879
AA Change: D216V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: D216V

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 damaging
Transcript: ENSMUST00000215269
AA Change: D216V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217518
AA Change: D216V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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
Aco2	A	G	15: 81,797,915 (GRCm39)	E663G	possibly damaging	Het
Adam29	T	A	8: 56,324,879 (GRCm39)	H525L	probably benign	Het
Adamts6	T	A	13: 104,526,590 (GRCm39)	V506E	probably damaging	Het
Ankfy1	G	A	11: 72,655,617 (GRCm39)	E1101K	probably damaging	Het
Arap3	C	T	18: 38,124,380 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,503 (GRCm39)	H497Q	probably benign	Het
Caln1	A	G	5: 130,698,392 (GRCm39)	E96G	probably damaging	Het
Cdh23	T	C	10: 60,148,403 (GRCm39)	T2653A	probably damaging	Het
Cdk5rap2	T	A	4: 70,298,472 (GRCm39)	I87F	possibly damaging	Het
Chi3l1	A	G	1: 134,110,554 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Crybg3	T	A	16: 59,349,590 (GRCm39)	H934L	probably damaging	Het
Cyp2d22	G	A	15: 82,255,869 (GRCm39)	T461I	probably damaging	Het
Dhcr24	T	C	4: 106,429,475 (GRCm39)	F183L	possibly damaging	Het
Dnajc13	T	C	9: 104,107,836 (GRCm39)		probably null	Het
Dusp16	A	T	6: 134,695,824 (GRCm39)	S336T	probably benign	Het
F930017D23Rik	T	G	10: 43,480,371 (GRCm39)		noncoding transcript	Het
Fasl	A	G	1: 161,609,407 (GRCm39)	V193A	probably damaging	Het
Fgf5	T	C	5: 98,423,175 (GRCm39)	Y187H	probably damaging	Het
Focad	C	A	4: 88,311,784 (GRCm39)	Q1423K	probably benign	Het
Gabrp	T	C	11: 33,505,055 (GRCm39)	T249A	probably damaging	Het
Galnt5	A	T	2: 57,915,354 (GRCm39)	K637*	probably null	Het
Gm20479	G	A	7: 27,056,812 (GRCm39)	R2525*	probably null	Het
Grm6	A	T	11: 50,750,346 (GRCm39)	D503V	probably benign	Het
Lyst	C	T	13: 13,852,641 (GRCm39)	R2214C	probably benign	Het
Micu2	T	A	14: 58,181,082 (GRCm39)	D184V	probably damaging	Het
Nabp2	T	A	10: 128,244,631 (GRCm39)	I52F	probably damaging	Het
Nat8f7	A	T	6: 85,684,570 (GRCm39)	L90*	probably null	Het
Or2z2	A	T	11: 58,346,088 (GRCm39)	M229K	probably damaging	Het
Or4k47	T	C	2: 111,451,546 (GRCm39)	N291S	probably damaging	Het
Pphln1	A	G	15: 93,386,985 (GRCm39)	E273G	probably damaging	Het
Ppil1	C	A	17: 29,482,862 (GRCm39)	V14F	possibly damaging	Het
Relt	A	T	7: 100,500,905 (GRCm39)	L28Q	probably damaging	Het
Rpl21	A	G	5: 146,770,996 (GRCm39)		probably benign	Het
Rrp36	A	T	17: 46,979,017 (GRCm39)		probably benign	Het
Skic8	C	A	9: 54,635,470 (GRCm39)	V44L	probably damaging	Het
St8sia5	G	A	18: 77,342,358 (GRCm39)	G320D	probably damaging	Het
Taf2	T	C	15: 54,911,670 (GRCm39)	E582G	probably damaging	Het
Tas2r116	T	A	6: 132,832,406 (GRCm39)	N2K	probably benign	Het
Tmem168	A	T	6: 13,583,045 (GRCm39)	V612E	probably damaging	Het
Unc79	A	G	12: 102,968,130 (GRCm39)	S119G	probably damaging	Het
Washc5	T	A	15: 59,227,688 (GRCm39)	K425*	probably null	Het
Wtap	G	T	17: 13,186,782 (GRCm39)	T255K	probably benign	Het
Zfp148	T	C	16: 33,277,313 (GRCm39)	V134A	probably benign	Het

Other mutations in Hmg20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Hmg20a	APN	9	56,384,514 (GRCm39)	missense	probably damaging	1.00
IGL02085:Hmg20a	APN	9	56,384,586 (GRCm39)	nonsense	probably null
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

2013-10-07