Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU22:Hmg20a'

262588

Institutional Source

Beutler Lab

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 #

ANU22

Quality Score

225

Status

Not validated

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

1x: 98.7%
3x: 98.1%
10x: 96.2%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 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
Adamts2	A	G	11: 50,628,190 (GRCm39)	N297D	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
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
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
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
Ptprd	C	A	4: 76,018,693 (GRCm39)	D694Y	probably damaging	Het
Relt	A	T	7: 100,500,905 (GRCm39)	L28Q	probably damaging	Het
Skic8	C	A	9: 54,635,470 (GRCm39)	V44L	probably damaging	Het
Sptbn4	G	A	7: 27,056,812 (GRCm39)	R2525*	probably null	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
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	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
Zfp397	C	T	18: 24,093,808 (GRCm39)	S431L	probably damaging	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
IGL02085:Hmg20a	APN	9	56,384,586 (GRCm39)	nonsense	probably null
IGL03284:Hmg20a	APN	9	56,388,901 (GRCm39)	missense	probably benign	0.25
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

Predicted Primers

PCR Primer
(F):5'- TGTAGTCCTTCACTACCCAGCAGC -3'
(R):5'- AGCAGCCATTCTTTGCATCAGAGTC -3'

Sequencing Primer
(F):5'- CTAATGCGGTGAATACATTCCC -3'
(R):5'- AGAGTCTTCTCCAGTCCTAAGG -3'

Posted On

2015-02-04