Incidental Mutation 'R0522:Hp1bp3'
| ID |
48625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hp1bp3
|
| Ensembl Gene |
ENSMUSG00000028759 |
| Gene Name |
heterochromatin protein 1, binding protein 3 |
| Synonyms |
Hp1bp74 |
| MMRRC Submission |
038715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R0522 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137943607-137971994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137949472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 19
(L19F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030541]
[ENSMUST00000097836]
[ENSMUST00000105825]
[ENSMUST00000105826]
[ENSMUST00000105827]
[ENSMUST00000124305]
[ENSMUST00000130071]
[ENSMUST00000137865]
[ENSMUST00000165861]
[ENSMUST00000137851]
|
| AlphaFold |
Q3TEA8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030541
AA Change: L57F
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: L57F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
133 |
N/A |
INTRINSIC |
|
H15
|
157 |
224 |
2.82e-18 |
SMART |
|
H15
|
253 |
320 |
7.29e-12 |
SMART |
|
H15
|
335 |
403 |
1.78e-15 |
SMART |
|
low complexity region
|
427 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097836
AA Change: L19F
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759
AA Change: L19F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
95 |
N/A |
INTRINSIC |
|
H15
|
119 |
186 |
2.82e-18 |
SMART |
|
H15
|
215 |
282 |
7.29e-12 |
SMART |
|
H15
|
297 |
365 |
1.78e-15 |
SMART |
|
low complexity region
|
389 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105825
AA Change: L19F
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759
AA Change: L19F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
95 |
N/A |
INTRINSIC |
|
H15
|
119 |
186 |
1.3e-17 |
SMART |
|
H15
|
215 |
282 |
7.29e-12 |
SMART |
|
H15
|
297 |
365 |
1.78e-15 |
SMART |
|
low complexity region
|
389 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105826
AA Change: L57F
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: L57F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
133 |
N/A |
INTRINSIC |
|
H15
|
157 |
224 |
1.3e-17 |
SMART |
|
H15
|
253 |
320 |
7.29e-12 |
SMART |
|
H15
|
335 |
403 |
1.78e-15 |
SMART |
|
low complexity region
|
427 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105827
AA Change: L57F
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: L57F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
133 |
N/A |
INTRINSIC |
|
H15
|
157 |
224 |
1.3e-17 |
SMART |
|
H15
|
253 |
320 |
7.29e-12 |
SMART |
|
H15
|
335 |
403 |
1.78e-15 |
SMART |
|
low complexity region
|
427 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124305
AA Change: L19F
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120587
Gene: ENSMUSG00000028759
AA Change: L19F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
82 |
N/A |
INTRINSIC |
|
H15
|
106 |
165 |
2.94e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130071
AA Change: L57F
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137865
AA Change: L57F
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000117216
Gene: ENSMUSG00000028759
AA Change: L57F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165861
AA Change: L57F
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: L57F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
133 |
N/A |
INTRINSIC |
|
H15
|
157 |
224 |
2.82e-18 |
SMART |
|
H15
|
253 |
320 |
7.29e-12 |
SMART |
|
H15
|
335 |
403 |
1.78e-15 |
SMART |
|
low complexity region
|
427 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137851
AA Change: L19F
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118913
Gene: ENSMUSG00000028759
AA Change: L19F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
95 |
N/A |
INTRINSIC |
|
H15
|
119 |
186 |
1.3e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154581
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality and reduced body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
A |
G |
8: 84,456,805 (GRCm39) |
I192T |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,874,648 (GRCm39) |
Y982H |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,676,561 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,598,597 (GRCm39) |
V1610A |
probably benign |
Het |
| Ankrd24 |
T |
C |
10: 81,472,189 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,044,429 (GRCm39) |
N337S |
probably benign |
Het |
| Cdc40 |
T |
C |
10: 40,733,608 (GRCm39) |
Y114C |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,815,957 (GRCm39) |
|
probably null |
Het |
| Cfc1 |
G |
A |
1: 34,576,234 (GRCm39) |
C98Y |
probably damaging |
Het |
| Cyp11b2 |
A |
T |
15: 74,723,533 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
C |
A |
15: 78,499,985 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Degs1l |
A |
C |
1: 180,887,312 (GRCm39) |
D299A |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,157,365 (GRCm39) |
K80R |
probably benign |
Het |
| Dnajb5 |
G |
T |
4: 42,957,083 (GRCm39) |
D257Y |
probably damaging |
Het |
| Dynll1 |
T |
C |
5: 115,438,565 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
T |
A |
13: 42,458,430 (GRCm39) |
V81E |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,039,332 (GRCm39) |
S1981P |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,400 (GRCm39) |
M309L |
probably benign |
Het |
| Gm14221 |
G |
A |
2: 160,416,597 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
A |
10: 88,267,328 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
16: 36,735,567 (GRCm39) |
|
probably null |
Het |
| Gpr176 |
A |
G |
2: 118,114,493 (GRCm39) |
C106R |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,704,560 (GRCm39) |
|
probably null |
Het |
| Hlx |
T |
C |
1: 184,463,837 (GRCm39) |
S168G |
probably damaging |
Het |
| Hnf1a |
G |
T |
5: 115,088,747 (GRCm39) |
|
probably benign |
Het |
| Hspa14 |
T |
A |
2: 3,512,086 (GRCm39) |
T63S |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,708,179 (GRCm39) |
S207F |
probably damaging |
Het |
| Jak3 |
C |
A |
8: 72,134,918 (GRCm39) |
|
probably benign |
Het |
| Jmjd7 |
G |
A |
2: 119,860,822 (GRCm39) |
A91T |
probably damaging |
Het |
| Lgals9 |
G |
T |
11: 78,856,638 (GRCm39) |
H265Q |
possibly damaging |
Het |
| Lrriq1 |
T |
G |
10: 102,997,638 (GRCm39) |
N1326H |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,672,837 (GRCm39) |
Q486K |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,439,123 (GRCm39) |
T194A |
probably damaging |
Het |
| Nek5 |
T |
A |
8: 22,578,813 (GRCm39) |
|
probably benign |
Het |
| Pcgf2 |
A |
C |
11: 97,582,873 (GRCm39) |
I135M |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 43,213,067 (GRCm39) |
A222S |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,309,859 (GRCm39) |
S575G |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,341,027 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,109,899 (GRCm39) |
|
probably benign |
Het |
| Poteg |
T |
G |
8: 27,939,986 (GRCm39) |
L48V |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,203 (GRCm39) |
C50S |
probably benign |
Het |
| Prx |
T |
A |
7: 27,217,620 (GRCm39) |
V707E |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,863,144 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
A |
T |
4: 86,363,340 (GRCm39) |
V381E |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,754,416 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
A |
C |
5: 22,051,343 (GRCm39) |
I57R |
probably damaging |
Het |
| Slc38a3 |
T |
A |
9: 107,532,412 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,926,534 (GRCm39) |
T188A |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,824,010 (GRCm39) |
I260V |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,977,288 (GRCm39) |
S98T |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,786 (GRCm39) |
S548R |
probably damaging |
Het |
| Sult6b1 |
C |
T |
17: 79,212,958 (GRCm39) |
G98S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,649,806 (GRCm39) |
Y77H |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,172,565 (GRCm39) |
D1899V |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Uap1l1 |
T |
C |
2: 25,253,289 (GRCm39) |
E382G |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
| Ugt1a9 |
T |
C |
1: 87,999,114 (GRCm39) |
V188A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,416 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
T |
C |
15: 81,906,793 (GRCm39) |
|
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
| Zfp804b |
T |
A |
5: 6,822,014 (GRCm39) |
T350S |
probably benign |
Het |
| Zfp959 |
G |
T |
17: 56,203,201 (GRCm39) |
R61M |
probably null |
Het |
|
| Other mutations in Hp1bp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Hp1bp3
|
APN |
4 |
137,967,940 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02407:Hp1bp3
|
APN |
4 |
137,967,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Hp1bp3
|
APN |
4 |
137,956,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Supermicro
|
UTSW |
4 |
137,953,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Hp1bp3
|
UTSW |
4 |
137,948,994 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0009:Hp1bp3
|
UTSW |
4 |
137,948,994 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0128:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0130:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Hp1bp3
|
UTSW |
4 |
137,964,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Hp1bp3
|
UTSW |
4 |
137,956,080 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1240:Hp1bp3
|
UTSW |
4 |
137,957,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Hp1bp3
|
UTSW |
4 |
137,957,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Hp1bp3
|
UTSW |
4 |
137,949,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Hp1bp3
|
UTSW |
4 |
137,948,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Hp1bp3
|
UTSW |
4 |
137,967,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2255:Hp1bp3
|
UTSW |
4 |
137,953,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3721:Hp1bp3
|
UTSW |
4 |
137,966,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Hp1bp3
|
UTSW |
4 |
137,949,018 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5042:Hp1bp3
|
UTSW |
4 |
137,949,419 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R5423:Hp1bp3
|
UTSW |
4 |
137,953,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5583:Hp1bp3
|
UTSW |
4 |
137,949,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5597:Hp1bp3
|
UTSW |
4 |
137,948,939 (GRCm39) |
start codon destroyed |
possibly damaging |
0.91 |
|
R6051:Hp1bp3
|
UTSW |
4 |
137,961,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6208:Hp1bp3
|
UTSW |
4 |
137,944,481 (GRCm39) |
start gained |
probably benign |
|
|
R7077:Hp1bp3
|
UTSW |
4 |
137,966,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Hp1bp3
|
UTSW |
4 |
137,953,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8312:Hp1bp3
|
UTSW |
4 |
137,950,750 (GRCm39) |
intron |
probably benign |
|
|
X0027:Hp1bp3
|
UTSW |
4 |
137,968,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hp1bp3
|
UTSW |
4 |
137,948,984 (GRCm39) |
missense |
not run |
|
|
Z1177:Hp1bp3
|
UTSW |
4 |
137,948,984 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTAAGGCTCTGCTGGGTTCTTC -3'
(R):5'- CGTGTCAAACGTCCCACCAGTTTC -3'
Sequencing Primer
(F):5'- TCAGATCCTGGAGTAACTTGAAG -3'
(R):5'- TCACTTTCCAAAAGGCTTCAAAGAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation