Incidental Mutation 'R7728:Hp1bp3'
ID |
595616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hp1bp3
|
Ensembl Gene |
ENSMUSG00000028759 |
Gene Name |
heterochromatin protein 1, binding protein 3 |
Synonyms |
Hp1bp74 |
MMRRC Submission |
045784-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R7728 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
137943607-137971994 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 137953307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 155
(M155K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030541
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030541]
[ENSMUST00000097836]
[ENSMUST00000105825]
[ENSMUST00000105826]
[ENSMUST00000105827]
[ENSMUST00000124305]
[ENSMUST00000130071]
[ENSMUST00000137851]
[ENSMUST00000137865]
[ENSMUST00000148681]
[ENSMUST00000165861]
|
AlphaFold |
Q3TEA8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030541
AA Change: M155K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000030541 Gene: ENSMUSG00000028759 AA Change: M155K
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 damaging
Transcript: ENSMUST00000097836
AA Change: M117K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095447 Gene: ENSMUSG00000028759 AA Change: M117K
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 |
probably damaging
Transcript: ENSMUST00000105825
AA Change: M117K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101451 Gene: ENSMUSG00000028759 AA Change: M117K
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 |
probably damaging
Transcript: ENSMUST00000105826
AA Change: M155K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101452 Gene: ENSMUSG00000028759 AA Change: M155K
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 damaging
Transcript: ENSMUST00000105827
AA Change: M155K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101453 Gene: ENSMUSG00000028759 AA Change: M155K
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: ENSMUST00000124305
AA Change: M104K
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000120587 Gene: ENSMUSG00000028759 AA Change: M104K
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 |
probably benign
Transcript: ENSMUST00000130071
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137851
AA Change: M117K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000118913 Gene: ENSMUSG00000028759 AA Change: M117K
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
95 |
N/A |
INTRINSIC |
H15
|
119 |
186 |
1.3e-17 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137865
AA Change: M142K
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117216 Gene: ENSMUSG00000028759 AA Change: M142K
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
low complexity region
|
83 |
120 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148681
|
SMART Domains |
Protein: ENSMUSP00000122005 Gene: ENSMUSG00000028759
Domain | Start | End | E-Value | Type |
H15
|
3 |
60 |
2.05e-6 |
SMART |
H15
|
89 |
156 |
7.29e-12 |
SMART |
H15
|
171 |
239 |
1.78e-15 |
SMART |
low complexity region
|
263 |
287 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165861
AA Change: M155K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132614 Gene: ENSMUSG00000028759 AA Change: M155K
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 |
|
Meta Mutation Damage Score |
0.3004 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
Validation Efficiency |
100% (66/66) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
A |
9: 57,163,822 (GRCm39) |
P851S |
probably damaging |
Het |
2210408I21Rik |
T |
A |
13: 77,464,596 (GRCm39) |
L931Q |
possibly damaging |
Het |
Abcg3 |
T |
G |
5: 105,083,944 (GRCm39) |
I609L |
probably benign |
Het |
Acly |
A |
T |
11: 100,407,623 (GRCm39) |
F242L |
probably damaging |
Het |
Acly |
C |
T |
11: 100,410,513 (GRCm39) |
G155D |
probably benign |
Het |
Acsl5 |
T |
A |
19: 55,276,285 (GRCm39) |
L370* |
probably null |
Het |
Arhgef17 |
G |
A |
7: 100,579,275 (GRCm39) |
P558S |
probably benign |
Het |
Bhlha9 |
T |
A |
11: 76,563,915 (GRCm39) |
S181T |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,929,100 (GRCm39) |
T2331A |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Ccdc7b |
A |
T |
8: 129,799,171 (GRCm39) |
R83W |
unknown |
Het |
Churc1 |
T |
A |
12: 76,820,052 (GRCm39) |
N20K |
probably benign |
Het |
Clec9a |
T |
C |
6: 129,392,198 (GRCm39) |
S63P |
possibly damaging |
Het |
Cndp2 |
T |
A |
18: 84,690,202 (GRCm39) |
M247L |
probably benign |
Het |
Cpvl |
C |
T |
6: 53,902,275 (GRCm39) |
S329N |
probably benign |
Het |
Cracd |
T |
C |
5: 77,005,316 (GRCm39) |
V559A |
unknown |
Het |
Csmd1 |
A |
T |
8: 16,281,285 (GRCm39) |
W747R |
probably damaging |
Het |
Dhx40 |
A |
T |
11: 86,662,759 (GRCm39) |
D644E |
probably damaging |
Het |
Disp2 |
A |
T |
2: 118,621,961 (GRCm39) |
N898Y |
probably benign |
Het |
Dnah3 |
G |
A |
7: 119,538,051 (GRCm39) |
H666Y |
probably damaging |
Het |
Dnajc2 |
C |
T |
5: 21,975,538 (GRCm39) |
D222N |
possibly damaging |
Het |
Epha5 |
A |
T |
5: 84,215,267 (GRCm39) |
M826K |
possibly damaging |
Het |
Fam13a |
T |
C |
6: 58,931,284 (GRCm39) |
D432G |
possibly damaging |
Het |
Fkbp6 |
A |
G |
5: 135,368,398 (GRCm39) |
L276P |
probably damaging |
Het |
Gars1 |
G |
T |
6: 55,027,371 (GRCm39) |
W155L |
probably damaging |
Het |
Gm12258 |
C |
A |
11: 58,750,518 (GRCm39) |
H564Q |
unknown |
Het |
Gm3127 |
A |
G |
14: 15,425,832 (GRCm39) |
D79G |
possibly damaging |
Het |
H2-Q10 |
T |
A |
17: 35,781,735 (GRCm39) |
I119N |
probably damaging |
Het |
Harbi1 |
A |
G |
2: 91,542,626 (GRCm39) |
D29G |
possibly damaging |
Het |
Itpr3 |
T |
G |
17: 27,317,088 (GRCm39) |
M781R |
probably damaging |
Het |
Kat7 |
T |
C |
11: 95,190,907 (GRCm39) |
K101E |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,360,478 (GRCm39) |
I299T |
possibly damaging |
Het |
Krt34 |
A |
G |
11: 99,930,811 (GRCm39) |
|
probably null |
Het |
Krt81 |
A |
G |
15: 101,358,087 (GRCm39) |
Y389H |
probably damaging |
Het |
Lrrc36 |
A |
T |
8: 106,176,130 (GRCm39) |
E168V |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,912,463 (GRCm39) |
V1699A |
probably benign |
Het |
Mdh1b |
T |
A |
1: 63,754,429 (GRCm39) |
S380C |
probably benign |
Het |
Mlkl |
A |
G |
8: 112,060,251 (GRCm39) |
L45P |
probably damaging |
Het |
Mmp13 |
T |
A |
9: 7,274,004 (GRCm39) |
D159E |
probably benign |
Het |
Nanp |
A |
G |
2: 150,872,835 (GRCm39) |
V31A |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,283,983 (GRCm39) |
S846P |
probably damaging |
Het |
Neb |
G |
A |
2: 52,073,311 (GRCm39) |
R5982C |
probably damaging |
Het |
Nebl |
G |
T |
2: 17,375,325 (GRCm39) |
F93L |
|
Het |
Or11h6 |
G |
A |
14: 50,879,849 (GRCm39) |
G31E |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,556,530 (GRCm39) |
N620I |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,824,260 (GRCm39) |
Y417C |
probably damaging |
Het |
Pwp2 |
T |
C |
10: 78,014,395 (GRCm39) |
T402A |
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,324,423 (GRCm39) |
|
probably null |
Het |
Rexo4 |
G |
A |
2: 26,854,242 (GRCm39) |
A30V |
probably benign |
Het |
Rrs1 |
T |
A |
1: 9,616,623 (GRCm39) |
M292K |
possibly damaging |
Het |
Shroom3 |
C |
A |
5: 92,831,566 (GRCm39) |
P14Q |
possibly damaging |
Het |
Slc16a10 |
T |
A |
10: 39,916,754 (GRCm39) |
I383F |
probably damaging |
Het |
Slco1a8 |
C |
A |
6: 141,933,436 (GRCm39) |
E470* |
probably null |
Het |
Slk |
C |
A |
19: 47,609,255 (GRCm39) |
P736Q |
probably damaging |
Het |
St6galnac2 |
T |
A |
11: 116,570,811 (GRCm39) |
H259L |
probably benign |
Het |
Stambpl1 |
T |
G |
19: 34,213,721 (GRCm39) |
S317A |
possibly damaging |
Het |
Syvn1 |
A |
G |
19: 6,101,235 (GRCm39) |
T429A |
unknown |
Het |
Tbc1d9 |
A |
T |
8: 83,985,979 (GRCm39) |
E828V |
probably damaging |
Het |
Tmtc2 |
A |
C |
10: 105,107,358 (GRCm39) |
|
probably null |
Het |
Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
Trp53bp1 |
A |
C |
2: 121,038,380 (GRCm39) |
L1436R |
probably damaging |
Het |
Ttll5 |
C |
T |
12: 86,003,406 (GRCm39) |
R1095W |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,634,203 (GRCm39) |
F831S |
probably damaging |
Het |
Vmn2r109 |
T |
A |
17: 20,773,117 (GRCm39) |
Q501H |
probably damaging |
Het |
Zcchc17 |
A |
G |
4: 130,230,812 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
A |
G |
8: 109,678,201 (GRCm39) |
M3084V |
probably benign |
Het |
Zfp81 |
T |
C |
17: 33,555,791 (GRCm39) |
N12S |
possibly damaging |
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 |
R0522:Hp1bp3
|
UTSW |
4 |
137,949,472 (GRCm39) |
missense |
possibly damaging |
0.77 |
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 |
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'- TCTTCCTGTGGGGATGCAAATG -3'
(R):5'- AAACATGTGCCTCTCGTGATG -3'
Sequencing Primer
(F):5'- GGAAACCTTGAATGCAAAATGTTGAC -3'
(R):5'- CGTGATGAGACTCCTTTAAGAAGC -3'
|
Posted On |
2019-11-12 |