Mutagenetix > Incidental Mutation

Incidental Mutation 'R4988:Hint2'

385943

Institutional Source

Beutler Lab

Gene Symbol

Hint2

Ensembl Gene

ENSMUSG00000028470

Gene Name

histidine triad nucleotide binding protein 2

Synonyms

1190005L05Rik

MMRRC Submission

042582-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

R4988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43654227-43656445 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43654953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 59 (I59V)

Ref Sequence

ENSEMBL: ENSMUSP00000030192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030191] [ENSMUST00000030192] [ENSMUST00000056474] [ENSMUST00000084646] [ENSMUST00000107870] [ENSMUST00000107874]

AlphaFold

Q9D0S9

Predicted Effect

probably benign
Transcript: ENSMUST00000030191

SMART Domains

Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	44	399	1.9e-45	PFAM
Pfam:Pkinase_Tyr	518	786	4.7e-39	PFAM
Pfam:Pkinase	535	785	1.2e-32	PFAM
CYCc	825	1019	3.28e-111	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030192
AA Change: I59V

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030192
Gene: ENSMUSG00000028470
AA Change: I59V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DcpS_C	53	159	7.1e-25	PFAM
Pfam:HIT	61	158	1.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056474

SMART Domains

Protein: ENSMUSP00000057398
Gene: ENSMUSG00000043633

Domain	Start	End	E-Value	Type
low complexity region	81	105	N/A	INTRINSIC
internal_repeat_1	119	164	1.12e-19	PROSPERO
internal_repeat_1	165	210	1.12e-19	PROSPERO
low complexity region	267	285	N/A	INTRINSIC
Pfam:DUF4475	312	482	1.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084646

SMART Domains

Protein: ENSMUSP00000081696
Gene: ENSMUSG00000066196

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	148	175	N/A	INTRINSIC
low complexity region	230	254	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107870

SMART Domains

Protein: ENSMUSP00000103502
Gene: ENSMUSG00000066196

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	148	175	N/A	INTRINSIC
low complexity region	230	254	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107874

SMART Domains

Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	44	399	5.7e-56	PFAM
Pfam:Pkinase_Tyr	518	786	4.1e-39	PFAM
Pfam:Pkinase	533	785	3.8e-34	PFAM
CYCc	825	989	4.37e-57	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134082

Predicted Effect

probably benign
Transcript: ENSMUST00000128549

SMART Domains

Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Pkinase_Tyr	84	352	1e-39	PFAM
Pfam:Pkinase	101	351	2.6e-33	PFAM
CYCc	391	585	3.28e-111	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149575

Meta Mutation Damage Score

0.5175

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit alterations in lipid metabolism, glucose homeostasis, and mitochondrial respiration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	G	A	1: 130,670,447 (GRCm39)	G223E	probably damaging	Het
Abcb11	T	C	2: 69,154,236 (GRCm39)	N110S	probably benign	Het
Acaca	T	A	11: 84,154,121 (GRCm39)	H947Q	probably damaging	Het
Akap13	T	C	7: 75,380,276 (GRCm39)	M2202T	probably damaging	Het
Amy2b	T	C	3: 113,058,550 (GRCm39)		noncoding transcript	Het
Arhgef4	A	T	1: 34,762,535 (GRCm39)	H597L	unknown	Het
Asgr2	A	G	11: 69,988,665 (GRCm39)	I119M	probably benign	Het
Casc3	T	G	11: 98,712,700 (GRCm39)		probably null	Het
Cbr1b	A	G	16: 93,426,884 (GRCm39)	T162A	probably benign	Het
Ccdc7b	T	A	8: 129,872,013 (GRCm39)	M239K	possibly damaging	Het
Cdc27	A	G	11: 104,416,950 (GRCm39)	S334P	possibly damaging	Het
Ces1c	T	C	8: 93,827,336 (GRCm39)	E476G	probably damaging	Het
Clec3a	T	A	8: 115,144,827 (GRCm39)	M1K	probably null	Het
Col9a1	T	C	1: 24,224,273 (GRCm39)	S152P	unknown	Het
Cpd	A	G	11: 76,705,656 (GRCm39)	S359P	probably damaging	Het
Ctnnal1	A	T	4: 56,847,854 (GRCm39)	L95*	probably null	Het
Dhx57	T	C	17: 80,558,827 (GRCm39)	D1044G	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Efcab5	A	G	11: 77,028,078 (GRCm39)	S418P	probably damaging	Het
Elp5	T	C	11: 69,870,668 (GRCm39)	D59G	probably benign	Het
Fam210a	G	A	18: 68,409,218 (GRCm39)	R31C	probably benign	Het
Farp1	A	G	14: 121,513,019 (GRCm39)	T792A	probably damaging	Het
Fmc1	A	T	6: 38,511,917 (GRCm39)	Y37F	probably benign	Het
Gm10717	T	A	9: 3,026,368 (GRCm39)	L72M	probably benign	Het
Gm1758	A	T	16: 14,320,067 (GRCm39)		noncoding transcript	Het
Gm4553	G	A	7: 141,718,729 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,768,577 (GRCm39)	T33A	possibly damaging	Het
Hhat	A	T	1: 192,339,602 (GRCm39)		probably benign	Het
Hps4	C	T	5: 112,526,019 (GRCm39)		probably benign	Het
Hsd17b8	A	G	17: 34,246,262 (GRCm39)	F137S	probably damaging	Het
Klrc2	A	T	6: 129,633,426 (GRCm39)	C192S	probably benign	Het
Map1a	C	T	2: 121,133,531 (GRCm39)	T1211I	probably benign	Het
Mtus1	T	C	8: 41,537,578 (GRCm39)	N46S	probably benign	Het
Myo18a	T	C	11: 77,736,347 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,458,266 (GRCm39)	S1258P	probably benign	Het
Ndst1	C	T	18: 60,836,005 (GRCm39)	G426D	probably damaging	Het
Nepro	A	G	16: 44,554,905 (GRCm39)	E327G	possibly damaging	Het
Nutm2	C	T	13: 50,626,379 (GRCm39)	T322I	possibly damaging	Het
Or10s1	G	A	9: 39,985,961 (GRCm39)	M123I	probably damaging	Het
Or1j18	T	C	2: 36,624,996 (GRCm39)	I221T	possibly damaging	Het
Or2m13	A	T	16: 19,225,860 (GRCm39)	M302K	probably benign	Het
Or6c66	T	C	10: 129,461,930 (GRCm39)		probably null	Het
Pcdhb15	G	A	18: 37,608,855 (GRCm39)	A696T	probably damaging	Het
Polm	C	A	11: 5,787,618 (GRCm39)	R45L	probably damaging	Het
Pon3	G	A	6: 5,254,582 (GRCm39)	R27*	probably null	Het
Proser1	T	C	3: 53,387,046 (GRCm39)	I845T	probably damaging	Het
Rassf8	A	G	6: 145,762,870 (GRCm39)	N406D	possibly damaging	Het
Skint10	A	T	4: 112,586,069 (GRCm39)	C182*	probably null	Het
Slc6a19	C	T	13: 73,833,959 (GRCm39)	W366*	probably null	Het
St7	T	C	6: 17,934,225 (GRCm39)	F470L	probably damaging	Het
St8sia4	T	A	1: 95,519,522 (GRCm39)	Y322F	possibly damaging	Het
Trav8n-2	A	T	14: 53,975,814 (GRCm39)		probably benign	Het
Vwa8	A	T	14: 79,435,723 (GRCm39)	H1811L	probably benign	Het
Zfp14	G	A	7: 29,737,482 (GRCm39)	T501I	probably benign	Het

Other mutations in Hint2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0326:Hint2	UTSW	4	43,654,378 (GRCm39)	missense	probably damaging	1.00
R3862:Hint2	UTSW	4	43,654,771 (GRCm39)	missense	probably damaging	1.00
R4439:Hint2	UTSW	4	43,654,919 (GRCm39)	missense	probably damaging	1.00
R4630:Hint2	UTSW	4	43,656,396 (GRCm39)	unclassified	probably benign
R5643:Hint2	UTSW	4	43,656,445 (GRCm39)	unclassified	probably benign
R8844:Hint2	UTSW	4	43,654,343 (GRCm39)	missense	probably damaging	1.00
R9148:Hint2	UTSW	4	43,654,952 (GRCm39)	missense	probably damaging	1.00
X0018:Hint2	UTSW	4	43,654,811 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTCAGCCTGGCTAATTCGAG -3'
(R):5'- ACTCAGAGCCCAGCATCTTC -3'

Sequencing Primer
(F):5'- ATGGGCTTCCTAGGAATGACC -3'
(R):5'- CCAACCTCAACTAAGTGTTTGGGG -3'

Posted On

2016-05-10