Incidental Mutation 'IGL03036:Hp1bp3'
ID |
408688 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hp1bp3
|
Ensembl Gene |
ENSMUSG00000028759 |
Gene Name |
heterochromatin protein 1, binding protein 3 |
Synonyms |
Hp1bp74 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
IGL03036
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
137943607-137971994 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137956043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 202
(G202D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030541]
[ENSMUST00000097836]
[ENSMUST00000105825]
[ENSMUST00000105826]
[ENSMUST00000105827]
[ENSMUST00000124305]
[ENSMUST00000137851]
[ENSMUST00000165861]
[ENSMUST00000148681]
[ENSMUST00000137865]
|
AlphaFold |
Q3TEA8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030541
AA Change: G202D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030541 Gene: ENSMUSG00000028759 AA Change: G202D
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: G164D
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000095447 Gene: ENSMUSG00000028759 AA Change: G164D
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: G164D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101451 Gene: ENSMUSG00000028759 AA Change: G164D
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: G202D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101452 Gene: ENSMUSG00000028759 AA Change: G202D
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: G202D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101453 Gene: ENSMUSG00000028759 AA Change: G202D
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: ENSMUST00000124305
AA Change: G151D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120587 Gene: ENSMUSG00000028759 AA Change: G151D
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 damaging
Transcript: ENSMUST00000137851
AA Change: G164D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118913 Gene: ENSMUSG00000028759 AA Change: G164D
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
95 |
N/A |
INTRINSIC |
H15
|
119 |
186 |
1.3e-17 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165861
AA Change: G202D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132614 Gene: ENSMUSG00000028759 AA Change: G202D
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: ENSMUST00000148681
AA Change: G38D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122005 Gene: ENSMUSG00000028759 AA Change: G38D
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 |
noncoding transcript
Transcript: ENSMUST00000154581
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155344
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137865
|
SMART Domains |
Protein: ENSMUSP00000117216 Gene: ENSMUSG00000028759
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
low complexity region
|
83 |
120 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17a |
A |
T |
10: 80,421,534 (GRCm39) |
Y145* |
probably null |
Het |
Afdn |
T |
G |
17: 14,108,350 (GRCm39) |
I1291S |
probably benign |
Het |
Arfgap3 |
T |
G |
15: 83,191,127 (GRCm39) |
I16L |
possibly damaging |
Het |
Bbs12 |
T |
A |
3: 37,373,343 (GRCm39) |
H45Q |
possibly damaging |
Het |
Brpf3 |
T |
C |
17: 29,043,022 (GRCm39) |
L1021P |
possibly damaging |
Het |
Cep170 |
A |
G |
1: 176,596,903 (GRCm39) |
S485P |
possibly damaging |
Het |
Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
Chst3 |
A |
T |
10: 60,022,261 (GRCm39) |
Y195* |
probably null |
Het |
Clmn |
T |
C |
12: 104,740,782 (GRCm39) |
Y125C |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,729,692 (GRCm39) |
|
probably null |
Het |
Cpeb3 |
A |
T |
19: 37,002,348 (GRCm39) |
I688N |
probably damaging |
Het |
Cpn2 |
A |
T |
16: 30,079,647 (GRCm39) |
L18H |
probably benign |
Het |
Crybg3 |
T |
A |
16: 59,375,542 (GRCm39) |
H1904L |
possibly damaging |
Het |
Csde1 |
C |
T |
3: 102,951,155 (GRCm39) |
P249S |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,721,339 (GRCm39) |
L377P |
probably damaging |
Het |
Dmwd |
A |
T |
7: 18,815,054 (GRCm39) |
K568M |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,712,134 (GRCm39) |
I90T |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,680,281 (GRCm39) |
I426T |
probably damaging |
Het |
Edc4 |
G |
A |
8: 106,613,943 (GRCm39) |
|
probably null |
Het |
Elac1 |
G |
T |
18: 73,871,985 (GRCm39) |
Q337K |
probably benign |
Het |
Exd2 |
G |
T |
12: 80,536,185 (GRCm39) |
A272S |
probably damaging |
Het |
F13b |
A |
G |
1: 139,435,853 (GRCm39) |
I220V |
possibly damaging |
Het |
Fblim1 |
G |
T |
4: 141,310,435 (GRCm39) |
R276S |
possibly damaging |
Het |
Fn1 |
A |
C |
1: 71,668,932 (GRCm39) |
L671R |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,877,576 (GRCm39) |
F1334I |
possibly damaging |
Het |
H2-T23 |
T |
A |
17: 36,343,249 (GRCm39) |
I43F |
possibly damaging |
Het |
Kdm5b |
A |
G |
1: 134,536,675 (GRCm39) |
M632V |
probably damaging |
Het |
Klra5 |
T |
A |
6: 129,885,830 (GRCm39) |
S20C |
probably damaging |
Het |
Lancl1 |
A |
T |
1: 67,046,074 (GRCm39) |
C276S |
probably damaging |
Het |
Lect2 |
A |
G |
13: 56,690,520 (GRCm39) |
*152Q |
probably null |
Het |
Maff |
C |
A |
15: 79,241,658 (GRCm39) |
S25* |
probably null |
Het |
Mtr |
A |
G |
13: 12,262,263 (GRCm39) |
L171P |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,202,855 (GRCm39) |
Y236* |
probably null |
Het |
Neb |
A |
C |
2: 52,134,165 (GRCm39) |
Y3273D |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,673,333 (GRCm39) |
I66K |
probably benign |
Het |
Or4c110 |
T |
C |
2: 88,832,459 (GRCm39) |
M58V |
possibly damaging |
Het |
Psmd14 |
A |
G |
2: 61,614,205 (GRCm39) |
Y200C |
probably damaging |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Ptk2b |
T |
A |
14: 66,411,344 (GRCm39) |
|
probably benign |
Het |
Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
Rabl6 |
C |
T |
2: 25,474,868 (GRCm39) |
G614D |
probably benign |
Het |
Ripk3 |
T |
C |
14: 56,024,796 (GRCm39) |
D128G |
probably benign |
Het |
Serinc4 |
A |
T |
2: 121,270,039 (GRCm39) |
|
probably benign |
Het |
Slco1a8 |
T |
G |
6: 141,954,333 (GRCm39) |
I47L |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,235,902 (GRCm39) |
S322P |
probably benign |
Het |
Spmap2l |
A |
C |
5: 77,164,197 (GRCm39) |
K67Q |
possibly damaging |
Het |
Srebf1 |
A |
T |
11: 60,111,284 (GRCm39) |
I29N |
possibly damaging |
Het |
Stk38l |
T |
C |
6: 146,670,372 (GRCm39) |
L238S |
probably damaging |
Het |
Supt20 |
T |
A |
3: 54,616,723 (GRCm39) |
C298* |
probably null |
Het |
Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
Ulk2 |
A |
T |
11: 61,725,660 (GRCm39) |
L139M |
probably damaging |
Het |
Unc13b |
A |
G |
4: 43,235,249 (GRCm39) |
N3279S |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,596,818 (GRCm39) |
R3853G |
possibly damaging |
Het |
Usp7 |
C |
T |
16: 8,556,078 (GRCm39) |
M24I |
probably benign |
Het |
Vil1 |
A |
G |
1: 74,458,771 (GRCm39) |
T131A |
probably damaging |
Het |
Vmn2r2 |
C |
T |
3: 64,024,321 (GRCm39) |
M753I |
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,601,900 (GRCm39) |
Y579* |
probably null |
Het |
Zdhhc3 |
A |
T |
9: 122,929,582 (GRCm39) |
Y18N |
probably damaging |
Het |
Zfp609 |
C |
T |
9: 65,609,927 (GRCm39) |
S1012N |
possibly damaging |
Het |
Zfr2 |
A |
T |
10: 81,077,985 (GRCm39) |
M271L |
probably benign |
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 |
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 |
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 |
|
|
Posted On |
2016-08-02 |