Mutagenetix > Incidental Mutation

Incidental Mutation 'R6961:Hmg20a'

541767

Institutional Source

Beutler Lab

Gene Symbol

Hmg20a

Ensembl Gene

ENSMUSG00000032329

Gene Name

high mobility group 20A

Synonyms

5730490E10Rik, Hmgxb1, 1200004E06Rik

MMRRC Submission

045071-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56325893-56404220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56396012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 268 (V268A)

Ref Sequence

ENSEMBL: ENSMUSP00000149359 (fasta)

Gene Model

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

AlphaFold

Q9DC33

Predicted Effect

probably benign
Transcript: ENSMUST00000034879
AA Change: V268A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034879
Gene: ENSMUSG00000032329
AA Change: V268A

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: ENSMUST00000215269
AA Change: V268A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000217518
AA Change: V268A

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,024,148 (GRCm39)	L168P	probably damaging	Het
Atp6v0d1	A	G	8: 106,255,849 (GRCm39)	L173P	probably damaging	Het
Baiap2l2	A	G	15: 79,168,835 (GRCm39)	F23L	probably damaging	Het
Cd200l1	T	A	16: 45,264,366 (GRCm39)	Y64F	probably benign	Het
Cdh23	G	C	10: 60,485,893 (GRCm39)	L41V	probably benign	Het
Cep120	C	A	18: 53,836,277 (GRCm39)	E803*	probably null	Het
Clcn7	C	T	17: 25,376,188 (GRCm39)	P560S	probably damaging	Het
Cldn12	A	T	5: 5,557,707 (GRCm39)	V240D	probably damaging	Het
Clec1a	C	T	6: 129,406,946 (GRCm39)	E190K	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Crispld1	T	A	1: 17,832,365 (GRCm39)	H450Q	probably damaging	Het
Dsc2	A	T	18: 20,171,279 (GRCm39)	N573K	probably damaging	Het
Fam186a	T	A	15: 99,838,082 (GRCm39)	I2721F	probably benign	Het
Fbxl13	A	G	5: 21,748,740 (GRCm39)	F393S	probably damaging	Het
Fut1	A	T	7: 45,268,963 (GRCm39)	I306F	probably damaging	Het
Gas2l3	T	C	10: 89,249,153 (GRCm39)	D655G	probably benign	Het
Gm29106	A	T	1: 118,128,128 (GRCm39)	K607*	probably null	Het
Gm57858	T	A	3: 36,104,766 (GRCm39)	I32F	possibly damaging	Het
Il2rb	T	A	15: 78,370,024 (GRCm39)	Y205F	probably damaging	Het
Ints4	A	G	7: 97,190,397 (GRCm39)	*965W	probably null	Het
Itsn2	T	A	12: 4,723,420 (GRCm39)	C1118*	probably null	Het
Jakmip1	T	C	5: 37,330,697 (GRCm39)	L459P	probably damaging	Het
Klhl8	T	C	5: 104,018,435 (GRCm39)	T323A	possibly damaging	Het
Mindy3	C	A	2: 12,400,989 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,250,369 (GRCm39)	T79A	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Napa	C	T	7: 15,843,034 (GRCm39)	R53*	probably null	Het
Nudt21	A	C	8: 94,755,508 (GRCm39)	D133E	probably benign	Het
Or2y3	T	A	17: 38,393,096 (GRCm39)	I258F	probably damaging	Het
Or4c115	T	A	2: 88,928,149 (GRCm39)	M41L	probably benign	Het
Or52b1	A	T	7: 104,978,913 (GRCm39)	I162K	probably damaging	Het
Or52s19	A	G	7: 103,007,789 (GRCm39)	V204A	possibly damaging	Het
Or56a41	A	T	7: 104,741,978 (GRCm39)	M16K	probably benign	Het
Or6c7	T	C	10: 129,323,331 (GRCm39)	F151L	probably damaging	Het
Pate13	G	A	9: 35,819,740 (GRCm39)	M1I	probably null	Het
Pira13	T	C	7: 3,828,124 (GRCm39)	Y61C	probably damaging	Het
Pla2g4e	G	T	2: 120,004,851 (GRCm39)		probably null	Het
Ptbp1	T	C	10: 79,695,111 (GRCm39)		probably null	Het
Scfd2	A	C	5: 74,680,202 (GRCm39)	V317G	possibly damaging	Het
Slc45a1	T	C	4: 150,714,110 (GRCm39)	M712V	probably damaging	Het
Smg7	A	T	1: 152,717,334 (GRCm39)	L919*	probably null	Het
Sspo	T	A	6: 48,440,811 (GRCm39)	S1758T	probably benign	Het
Tgfb2	A	T	1: 186,382,032 (GRCm39)	M165K	possibly damaging	Het
Tie1	C	T	4: 118,343,402 (GRCm39)	V154M	probably damaging	Het
Timm17a	A	G	1: 135,238,816 (GRCm39)		probably benign	Het
Tlr5	C	T	1: 182,801,076 (GRCm39)	R127*	probably null	Het
Ttc29	A	C	8: 79,003,545 (GRCm39)	I254L	possibly damaging	Het
Unc79	T	C	12: 103,079,174 (GRCm39)	S1780P	probably damaging	Het
Vmn2r106	A	T	17: 20,488,646 (GRCm39)	Y584*	probably null	Het
Zbtb24	A	G	10: 41,331,171 (GRCm39)	E366G	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
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
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'- TGAGAGACAGCTAAGCAGAACTTC -3'
(R):5'- TGCGGCTTCTCCACATTAATAC -3'

Sequencing Primer
(F):5'- CTAAGCAGAACTTCATAGAAGAGTC -3'
(R):5'- GCGGCTTCTCCACATTAATACTAACG -3'

Posted On

2018-11-28