Incidental Mutation 'R3930:Hp1bp3'
ID |
308415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hp1bp3
|
Ensembl Gene |
ENSMUSG00000028759 |
Gene Name |
heterochromatin protein 1, binding protein 3 |
Synonyms |
Hp1bp74 |
MMRRC Submission |
040917-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R3930 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
137943607-137971994 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 137949018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 27
(A27V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030541]
[ENSMUST00000097836]
[ENSMUST00000105825]
[ENSMUST00000105826]
[ENSMUST00000105827]
[ENSMUST00000124305]
[ENSMUST00000130071]
[ENSMUST00000137865]
[ENSMUST00000165861]
[ENSMUST00000137851]
|
AlphaFold |
Q3TEA8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030541
AA Change: A27V
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000030541 Gene: ENSMUSG00000028759 AA Change: A27V
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: ENSMUST00000097836
|
SMART Domains |
Protein: ENSMUSP00000095447 Gene: ENSMUSG00000028759
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 benign
Transcript: ENSMUST00000105825
|
SMART Domains |
Protein: ENSMUSP00000101451 Gene: ENSMUSG00000028759
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 benign
Transcript: ENSMUST00000105826
AA Change: A27V
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101452 Gene: ENSMUSG00000028759 AA Change: A27V
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: ENSMUST00000105827
AA Change: A27V
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101453 Gene: ENSMUSG00000028759 AA Change: A27V
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
|
SMART Domains |
Protein: ENSMUSP00000120587 Gene: ENSMUSG00000028759
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
AA Change: A27V
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137865
AA Change: A27V
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117216 Gene: ENSMUSG00000028759 AA Change: A27V
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
low complexity region
|
83 |
120 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154581
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165861
AA Change: A27V
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000132614 Gene: ENSMUSG00000028759 AA Change: A27V
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 |
noncoding transcript
Transcript: ENSMUST00000142420
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137851
|
SMART Domains |
Protein: ENSMUSP00000118913 Gene: ENSMUSG00000028759
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
95 |
N/A |
INTRINSIC |
H15
|
119 |
186 |
1.3e-17 |
SMART |
|
Meta Mutation Damage Score |
0.0909 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (58/58) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
C |
T |
4: 144,396,698 (GRCm39) |
E345K |
probably damaging |
Het |
Bpifb1 |
A |
G |
2: 154,057,242 (GRCm39) |
N400S |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Crhr1 |
T |
A |
11: 104,044,377 (GRCm39) |
S22T |
probably benign |
Het |
Cyp4a10 |
G |
T |
4: 115,381,980 (GRCm39) |
V221L |
probably benign |
Het |
D1Pas1 |
G |
T |
1: 186,700,477 (GRCm39) |
W135C |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
Dnm3 |
T |
C |
1: 161,911,699 (GRCm39) |
D66G |
probably damaging |
Het |
Fzd10 |
G |
A |
5: 128,679,476 (GRCm39) |
V399M |
probably damaging |
Het |
Gm10801 |
T |
A |
2: 98,494,361 (GRCm39) |
I146N |
possibly damaging |
Het |
Gm525 |
T |
A |
11: 88,965,830 (GRCm39) |
|
probably null |
Het |
Gpr37l1 |
T |
C |
1: 135,089,100 (GRCm39) |
I322V |
probably benign |
Het |
Grid2ip |
T |
G |
5: 143,371,794 (GRCm39) |
S679R |
probably damaging |
Het |
Gyg1 |
A |
T |
3: 20,209,189 (GRCm39) |
S15T |
probably benign |
Het |
Hace1 |
G |
A |
10: 45,587,604 (GRCm39) |
C901Y |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,924,716 (GRCm39) |
I1034V |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,371,802 (GRCm39) |
T1159A |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
Lrrc45 |
C |
T |
11: 120,609,503 (GRCm39) |
A422V |
probably benign |
Het |
Lrrk2 |
T |
A |
15: 91,651,664 (GRCm39) |
|
probably null |
Het |
Map3k4 |
T |
C |
17: 12,454,880 (GRCm39) |
H1370R |
possibly damaging |
Het |
Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
Nfkbil1 |
G |
T |
17: 35,439,932 (GRCm39) |
Q194K |
probably benign |
Het |
Nin |
C |
T |
12: 70,125,016 (GRCm39) |
G102E |
probably damaging |
Het |
Nmt1 |
T |
C |
11: 102,943,059 (GRCm39) |
V138A |
probably benign |
Het |
Optc |
T |
A |
1: 133,828,920 (GRCm39) |
R176* |
probably null |
Het |
Or10aa3 |
A |
T |
1: 173,878,076 (GRCm39) |
I46F |
probably damaging |
Het |
Or4c110 |
A |
G |
2: 88,832,377 (GRCm39) |
F85S |
probably benign |
Het |
Or52ae9 |
A |
C |
7: 103,389,794 (GRCm39) |
Y218D |
probably damaging |
Het |
Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
Plxna2 |
G |
A |
1: 194,477,218 (GRCm39) |
A1243T |
probably benign |
Het |
Rin1 |
G |
T |
19: 5,103,002 (GRCm39) |
L430F |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,070,944 (GRCm39) |
S37T |
possibly damaging |
Het |
Rrp36 |
G |
T |
17: 46,983,732 (GRCm39) |
Q27K |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
Sfrp5 |
T |
G |
19: 42,190,257 (GRCm39) |
Y65S |
probably damaging |
Het |
Slc25a54 |
T |
A |
3: 109,023,820 (GRCm39) |
L472I |
probably benign |
Het |
Slc35d3 |
T |
C |
10: 19,724,605 (GRCm39) |
E417G |
probably damaging |
Het |
Sumf2 |
A |
G |
5: 129,878,820 (GRCm39) |
D52G |
probably benign |
Het |
Sympk |
A |
G |
7: 18,781,447 (GRCm39) |
N801S |
possibly damaging |
Het |
Taf7l2 |
G |
T |
10: 115,948,540 (GRCm39) |
Q329K |
possibly damaging |
Het |
Tcstv2c |
G |
A |
13: 120,616,368 (GRCm39) |
C69Y |
probably damaging |
Het |
Tmem38b |
T |
C |
4: 53,854,398 (GRCm39) |
F210S |
probably damaging |
Het |
Tnks |
T |
A |
8: 35,407,966 (GRCm39) |
H254L |
probably damaging |
Het |
Trappc10 |
A |
T |
10: 78,046,237 (GRCm39) |
V451E |
probably benign |
Het |
Trim43a |
A |
T |
9: 88,465,131 (GRCm39) |
I153F |
probably benign |
Het |
Tulp1 |
T |
C |
17: 28,572,683 (GRCm39) |
N213S |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,746,951 (GRCm39) |
D830G |
probably benign |
Het |
Uqcc3 |
C |
T |
19: 8,858,069 (GRCm39) |
|
probably null |
Het |
Vmn2r26 |
T |
A |
6: 124,002,938 (GRCm39) |
M116K |
probably benign |
Het |
Zscan12 |
A |
G |
13: 21,552,800 (GRCm39) |
Q208R |
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 |
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 |
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'- CACCACACTGAAGCCGTTAG -3'
(R):5'- GGAGAATTCTTCAAGTTACTCCAG -3'
Sequencing Primer
(F):5'- CCGTTAGGAAAACAAACCTTGTG -3'
(R):5'- ATTCTTCAAGTTACTCCAGGATCTG -3'
|
Posted On |
2015-04-17 |