Incidental Mutation 'R4439:Hint2'
| ID |
329661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hint2
|
| Ensembl Gene |
ENSMUSG00000028470 |
| Gene Name |
histidine triad nucleotide binding protein 2 |
| Synonyms |
1190005L05Rik |
| MMRRC Submission |
041704-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R4439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43654227-43656445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43654919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 70
(Y70F)
|
| 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 |
probably damaging
Transcript: ENSMUST00000030192
AA Change: Y70F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030192
Gene: ENSMUSG00000028470
AA Change: Y70F
| 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: ENSMUST00000134050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151603
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149575
|
| 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 |
|
| Meta Mutation Damage Score |
0.4022 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
94% (50/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,384,557 (GRCm39) |
T2237I |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,754,954 (GRCm39) |
L684Q |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,667,877 (GRCm39) |
Y488F |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,171,696 (GRCm39) |
I824T |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,739,922 (GRCm39) |
|
probably benign |
Het |
| Fam78b |
C |
A |
1: 166,906,491 (GRCm39) |
Q217K |
probably damaging |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Garem2 |
G |
T |
5: 30,318,344 (GRCm39) |
V106L |
possibly damaging |
Het |
| Grk3 |
A |
T |
5: 113,094,543 (GRCm39) |
|
probably null |
Het |
| H3c2 |
A |
T |
13: 23,936,708 (GRCm39) |
|
probably null |
Het |
| Ipp |
A |
G |
4: 116,372,274 (GRCm39) |
N101S |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,305,414 (GRCm39) |
|
probably benign |
Het |
| Kcnk4 |
T |
C |
19: 6,910,129 (GRCm39) |
D44G |
probably benign |
Het |
| Kif5c |
T |
C |
2: 49,578,737 (GRCm39) |
S122P |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,368,208 (GRCm39) |
K1171N |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,653 (GRCm39) |
|
noncoding transcript |
Het |
| Pcf11 |
A |
C |
7: 92,307,225 (GRCm39) |
L981R |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,185,399 (GRCm39) |
L153H |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,481,750 (GRCm39) |
S68P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,804,666 (GRCm39) |
V3130A |
probably damaging |
Het |
| Plpp4 |
C |
A |
7: 128,858,813 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
T |
A |
6: 115,970,937 (GRCm39) |
H277L |
probably damaging |
Het |
| Pramel26 |
A |
T |
4: 143,538,143 (GRCm39) |
V276E |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Rd3l |
C |
A |
12: 111,946,092 (GRCm39) |
S63I |
possibly damaging |
Het |
| Scfd2 |
G |
C |
5: 74,558,368 (GRCm39) |
A503G |
possibly damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,455 (GRCm39) |
V549A |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Tnn |
T |
G |
1: 159,943,650 (GRCm39) |
E1054D |
probably benign |
Het |
| Tnrc6a |
A |
T |
7: 122,751,405 (GRCm39) |
K54* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,279,712 (GRCm39) |
D206E |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,040,726 (GRCm39) |
F399I |
probably damaging |
Het |
| Usp3 |
A |
T |
9: 66,425,776 (GRCm39) |
D456E |
probably benign |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,488 (GRCm39) |
H204L |
probably damaging |
Het |
| Vmn2r97 |
G |
T |
17: 19,150,616 (GRCm39) |
A488S |
probably benign |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,935,235 (GRCm39) |
D36G |
probably damaging |
Het |
| Zc3h4 |
C |
T |
7: 16,163,036 (GRCm39) |
P479S |
unknown |
Het |
| Zfhx4 |
A |
T |
3: 5,279,875 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,149 (GRCm39) |
C202S |
probably damaging |
Het |
| Zfp882 |
T |
A |
8: 72,667,453 (GRCm39) |
F93L |
probably damaging |
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 |
|
R4630:Hint2
|
UTSW |
4 |
43,656,396 (GRCm39) |
unclassified |
probably benign |
|
|
R4988:Hint2
|
UTSW |
4 |
43,654,953 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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'- CTGGCTAATTCGAGGAATGGGC -3'
(R):5'- TGTTAGTAACACTCAGAGCCC -3'
Sequencing Primer
(F):5'- ATGGGCTTCCTAGGAATGACC -3'
(R):5'- CCAACCTCAACTAAGTGTTTGGGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation