Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Hmga1'

194325

Institutional Source

Beutler Lab

Gene Symbol

Hmga1

Ensembl Gene

ENSMUSG00000046711

Gene Name

high mobility group AT-hook 1

Synonyms

Hmgiy, HMGI(Y), HMG-I(Y), HMGY, Hmgi, Hmga1a, Hmga1b

MMRRC Submission

039797-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R1765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27775471-27782648 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27778592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

Ref Sequence

ENSEMBL: ENSMUSP00000155922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080190] [ENSMUST00000114888] [ENSMUST00000117254] [ENSMUST00000117600] [ENSMUST00000118570] [ENSMUST00000118599] [ENSMUST00000119486] [ENSMUST00000231358] [ENSMUST00000231243] [ENSMUST00000231780] [ENSMUST00000231796] [ENSMUST00000231825] [ENSMUST00000231866] [ENSMUST00000231874] [ENSMUST00000145183] [ENSMUST00000231948] [ENSMUST00000154473] [ENSMUST00000231753] [ENSMUST00000232013] [ENSMUST00000232265] [ENSMUST00000232253] [ENSMUST00000232552] [ENSMUST00000232203] [ENSMUST00000232276]

AlphaFold

P17095

Predicted Effect

probably benign
Transcript: ENSMUST00000080190

SMART Domains

Protein: ENSMUSP00000079081
Gene: ENSMUSG00000062753

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114888
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110538
Gene: ENSMUSG00000046711
AA Change: E17G

Domain	Start	End	E-Value	Type
AT_hook	23	35	1.34e0	SMART
AT_hook	44	56	1.86e0	SMART
AT_hook	70	82	1.03e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117254
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113011
Gene: ENSMUSG00000046711
AA Change: E17G

Domain	Start	End	E-Value	Type
AT_hook	23	35	2.69e0	SMART
AT_hook	55	67	1.86e0	SMART
AT_hook	81	93	1.03e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117600
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113068
Gene: ENSMUSG00000046711
AA Change: E17G

Domain	Start	End	E-Value	Type
AT_hook	23	35	2.69e0	SMART
AT_hook	55	67	1.86e0	SMART
AT_hook	81	93	1.03e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118570
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114101
Gene: ENSMUSG00000046711
AA Change: E17G

Domain	Start	End	E-Value	Type
AT_hook	23	35	1.34e0	SMART
AT_hook	44	56	1.86e0	SMART
AT_hook	70	82	1.03e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118599
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113015
Gene: ENSMUSG00000046711
AA Change: E17G

Domain	Start	End	E-Value	Type
AT_hook	23	35	2.69e0	SMART
AT_hook	55	67	1.86e0	SMART
AT_hook	81	93	1.03e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119486
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113916
Gene: ENSMUSG00000046711
AA Change: E17G

Domain	Start	End	E-Value	Type
AT_hook	23	35	2.69e0	SMART
AT_hook	55	67	1.86e0	SMART
AT_hook	81	93	1.03e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138728

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231358
AA Change: E17G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231243
AA Change: E17G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231780
AA Change: E17G

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231796
AA Change: E17G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231825
AA Change: E17G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231866
AA Change: E17G

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231874
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000145183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231365

Predicted Effect

probably benign
Transcript: ENSMUST00000231948

Predicted Effect

probably benign
Transcript: ENSMUST00000154473

SMART Domains

Protein: ENSMUSP00000116199
Gene: ENSMUSG00000062753

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	63	74	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231483

Predicted Effect

probably benign
Transcript: ENSMUST00000231753

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232013
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232265
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232253
AA Change: E17G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232552
AA Change: E17G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000232203

Predicted Effect

probably benign
Transcript: ENSMUST00000232276

Meta Mutation Damage Score

0.0686

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: This locus encodes a member of the nuclear, non-histone high mobility group protein family. This architectural transcription factor binds to A-T rich DNA sequences and participates in enhanceosome formation, chromatin remodeling and regulation of transcription. This protein functions in many cellular processes, including cell growth and differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Although haploinsufficiency at this locus is not compatible with germline transmission of one allele at this locus, mice homozygous for two other disruptions are fertile. Abnormalities are seen in glucose metabolism and in the cardiovascular system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	G	T	15: 59,887,194 (GRCm39)	C415*	probably null	Het
Adamtsl2	A	C	2: 26,992,842 (GRCm39)	I652L	probably benign	Het
Adgrl4	T	C	3: 151,248,872 (GRCm39)	I720T	probably damaging	Het
Agrn	A	T	4: 156,261,284 (GRCm39)	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
B3galt2	C	A	1: 143,522,207 (GRCm39)	N114K	probably benign	Het
Bud23	A	T	5: 135,084,897 (GRCm39)	M59K	probably benign	Het
C3	C	T	17: 57,531,401 (GRCm39)		probably null	Het
C9orf72	A	C	4: 35,197,098 (GRCm39)	H322Q	probably damaging	Het
Cc2d2a	A	T	5: 43,871,873 (GRCm39)	D903V	probably damaging	Het
Ccdc9b	G	A	2: 118,591,128 (GRCm39)	A135V	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,551,230 (GRCm39)	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,313,155 (GRCm39)	N62I	probably benign	Het
Cdc27	G	T	11: 104,425,607 (GRCm39)	Q70K	probably damaging	Het
Cenpq	A	T	17: 41,235,178 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,239,200 (GRCm39)	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,433,261 (GRCm39)	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,339,623 (GRCm39)	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,741,793 (GRCm39)	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,074,506 (GRCm39)	Q104*	probably null	Het
Dglucy	T	A	12: 100,816,361 (GRCm39)		probably null	Het
Dnajc9	A	G	14: 20,438,158 (GRCm39)	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,890,579 (GRCm39)	D396V	possibly damaging	Het
Dock10	T	A	1: 80,583,540 (GRCm39)	I221F	probably damaging	Het
Dscam	T	C	16: 96,486,579 (GRCm39)	N1032S	probably benign	Het
Dsg4	A	C	18: 20,589,888 (GRCm39)	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,079,759 (GRCm39)	H417R	probably benign	Het
Dysf	G	A	6: 84,167,884 (GRCm39)		probably null	Het
Elovl1	A	G	4: 118,287,707 (GRCm39)	M1V	probably null	Het
Eva1c	A	G	16: 90,701,135 (GRCm39)	S257G	probably benign	Het
Eya2	A	T	2: 165,566,723 (GRCm39)	D258V	probably damaging	Het
Fam193a	A	G	5: 34,593,841 (GRCm39)	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fstl5	G	T	3: 76,500,783 (GRCm39)	R404L	possibly damaging	Het
Glud1	T	C	14: 34,047,541 (GRCm39)		probably benign	Het
Gm10770	A	C	2: 150,021,258 (GRCm39)	H86Q	probably damaging	Het
Gzme	C	T	14: 56,355,871 (GRCm39)	G147D	probably damaging	Het
Herc3	T	C	6: 58,865,645 (GRCm39)	V746A	probably damaging	Het
Kdelr2	A	T	5: 143,406,567 (GRCm39)	K206*	probably null	Het
Kng2	A	G	16: 22,806,993 (GRCm39)		probably null	Het
Lrrc41	G	A	4: 115,946,248 (GRCm39)	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 130,986,498 (GRCm39)	M1K	probably null	Het
Me2	A	G	18: 73,924,929 (GRCm39)	F263L	probably damaging	Het
Mkks	A	G	2: 136,722,287 (GRCm39)	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772 (GRCm39)	I255N	probably damaging	Het
Mogs	A	G	6: 83,093,784 (GRCm39)	D251G	probably benign	Het
Morf4l1	T	A	9: 89,984,401 (GRCm39)	Y65F	possibly damaging	Het
Neb	T	C	2: 52,094,676 (GRCm39)	D5169G	probably damaging	Het
Nin	A	G	12: 70,089,665 (GRCm39)	L1250P	probably damaging	Het
Nomo1	G	T	7: 45,715,717 (GRCm39)	G721V	possibly damaging	Het
Notch2	T	G	3: 98,029,242 (GRCm39)	C1002G	probably damaging	Het
Npat	T	C	9: 53,481,522 (GRCm39)	Y1077H	probably benign	Het
Or1e1c	T	A	11: 73,266,170 (GRCm39)	N198K	probably damaging	Het
Or4g17	G	A	2: 111,209,491 (GRCm39)	V49I	probably benign	Het
Or4p21	A	T	2: 88,276,367 (GRCm39)	F305Y	probably damaging	Het
Or5h25	A	G	16: 58,930,118 (GRCm39)	L285P	probably damaging	Het
Or8c16	T	C	9: 38,130,548 (GRCm39)	I143T	probably benign	Het
Otop2	A	T	11: 115,215,504 (GRCm39)	I142F	probably benign	Het
Pacsin3	A	G	2: 91,093,460 (GRCm39)	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,140,758 (GRCm39)	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,913 (GRCm39)	H729R	probably benign	Het
Plcd1	T	C	9: 118,900,874 (GRCm39)	D756G	probably damaging	Het
Prune2	A	G	19: 17,102,962 (GRCm39)	E2707G	probably damaging	Het
Rit2	C	T	18: 31,449,951 (GRCm39)	G16S	probably damaging	Het
Sec24c	A	G	14: 20,738,922 (GRCm39)		probably benign	Het
Skint5	G	T	4: 113,434,858 (GRCm39)	T1037K	unknown	Het
Slc28a2	T	A	2: 122,290,876 (GRCm39)		probably null	Het
Slc41a2	G	A	10: 83,137,130 (GRCm39)	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,380,895 (GRCm39)	I537F	possibly damaging	Het
Slco1a7	T	C	6: 141,700,084 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,707,196 (GRCm39)		probably benign	Het
Smg1	T	C	7: 117,738,938 (GRCm39)	I3489V	probably benign	Het
Sytl3	T	C	17: 6,967,082 (GRCm39)	L142P	probably damaging	Het
Tektl1	A	T	10: 78,584,502 (GRCm39)	M340K	probably benign	Het
Tfr2	C	T	5: 137,581,707 (GRCm39)	T598I	probably damaging	Het
Tmc2	A	G	2: 130,102,145 (GRCm39)	Q770R	probably benign	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trim68	A	T	7: 102,329,597 (GRCm39)	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,435,184 (GRCm39)	D325G	probably benign	Het
Ube3a	C	T	7: 58,935,862 (GRCm39)	T582I	probably damaging	Het
Usp13	G	A	3: 32,969,919 (GRCm39)	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454 (GRCm39)	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,052,095 (GRCm39)	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,614,480 (GRCm39)	M86K	probably damaging	Het
Vsig10	A	G	5: 117,456,880 (GRCm39)		probably benign	Het
Zbtb41	T	A	1: 139,368,132 (GRCm39)	C607S	probably benign	Het

Other mutations in Hmga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7083:Hmga1	UTSW	17	27,779,945 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ACCCCTAACTAAGGGACAAGGTAGC -3'
(R):5'- CACCTCTGGGCAGTAAGCATACAC -3'

Sequencing Primer
(F):5'- GTAGCGAAAAGCCTCAACTTG -3'
(R):5'- AGCTTTAGACACCCACCTGA -3'

Posted On

2014-05-23