Incidental Mutation 'R5583:Hp1bp3'
| ID |
438559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hp1bp3
|
| Ensembl Gene |
ENSMUSG00000028759 |
| Gene Name |
heterochromatin protein 1, binding protein 3 |
| Synonyms |
Hp1bp74 |
| MMRRC Submission |
043137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R5583 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137943607-137971994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137949426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 41
(I41M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030541]
[ENSMUST00000097836]
[ENSMUST00000105825]
[ENSMUST00000105826]
[ENSMUST00000105827]
[ENSMUST00000124305]
[ENSMUST00000130071]
[ENSMUST00000137851]
[ENSMUST00000137865]
[ENSMUST00000165861]
|
| AlphaFold |
Q3TEA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030541
AA Change: I41M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: I41M
| 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: I3M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759
AA Change: I3M
| 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: I3M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759
AA Change: I3M
| 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: I41M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: I41M
| 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: I41M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: I41M
| 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: I3M
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120587
Gene: ENSMUSG00000028759
AA Change: I3M
| 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: ENSMUST00000130071
AA Change: I41M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137851
AA Change: I3M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118913
Gene: ENSMUSG00000028759
AA Change: I3M
| 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: ENSMUST00000137865
AA Change: I41M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117216
Gene: ENSMUSG00000028759
AA Change: I41M
| 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 damaging
Transcript: ENSMUST00000165861
AA Change: I41M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: I41M
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,083 (GRCm39) |
L8Q |
probably damaging |
Het |
| Abca4 |
T |
C |
3: 121,942,550 (GRCm39) |
V1681A |
probably damaging |
Het |
| Abce1 |
G |
T |
8: 80,416,922 (GRCm39) |
A363E |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,564,800 (GRCm39) |
Y256C |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,695,740 (GRCm39) |
C416R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,984,281 (GRCm39) |
V1855D |
probably damaging |
Het |
| Alb |
A |
T |
5: 90,616,452 (GRCm39) |
H319L |
probably benign |
Het |
| Ankrd35 |
G |
T |
3: 96,592,219 (GRCm39) |
R835L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,615,414 (GRCm39) |
D1014G |
possibly damaging |
Het |
| Cdk6 |
T |
A |
5: 3,394,436 (GRCm39) |
Y24N |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,752,473 (GRCm39) |
N323K |
probably damaging |
Het |
| Cops9 |
A |
T |
1: 92,567,489 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,879,506 (GRCm39) |
T561A |
probably benign |
Het |
| Dcdc5 |
T |
C |
2: 106,195,778 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7b |
G |
T |
1: 46,281,359 (GRCm39) |
A2807S |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,413,368 (GRCm39) |
T196A |
possibly damaging |
Het |
| Fam217a |
C |
A |
13: 35,094,280 (GRCm39) |
C402F |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,715 (GRCm39) |
V4053E |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,791,004 (GRCm39) |
V755A |
probably damaging |
Het |
| Fxr1 |
C |
A |
3: 34,123,125 (GRCm39) |
S641R |
probably benign |
Het |
| Gata5 |
A |
T |
2: 179,976,047 (GRCm39) |
M39K |
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,807,278 (GRCm39) |
D1658E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,400,110 (GRCm39) |
T426M |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Helq |
T |
C |
5: 100,910,459 (GRCm39) |
E1039G |
probably damaging |
Het |
| Hibch |
T |
A |
1: 52,940,406 (GRCm39) |
Y192N |
probably damaging |
Het |
| Itpripl2 |
G |
T |
7: 118,089,101 (GRCm39) |
P486Q |
probably benign |
Het |
| Kcnj6 |
T |
C |
16: 94,634,060 (GRCm39) |
D17G |
probably benign |
Het |
| Kprp |
T |
A |
3: 92,731,643 (GRCm39) |
Y469F |
unknown |
Het |
| Kremen2 |
T |
C |
17: 23,961,229 (GRCm39) |
T373A |
probably benign |
Het |
| Lgi4 |
A |
G |
7: 30,760,562 (GRCm39) |
Y39C |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,409 (GRCm39) |
D176G |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,424,332 (GRCm39) |
S785G |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,598,325 (GRCm39) |
Q920L |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,455,196 (GRCm39) |
E1362G |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,272 (GRCm39) |
S8P |
probably damaging |
Het |
| Or2h1b |
T |
C |
17: 37,462,485 (GRCm39) |
Q126R |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,654,892 (GRCm39) |
R888Q |
possibly damaging |
Het |
| Per1 |
A |
G |
11: 68,994,271 (GRCm39) |
H494R |
probably damaging |
Het |
| Pira2 |
A |
G |
7: 3,845,545 (GRCm39) |
F280L |
probably benign |
Het |
| Plekhm3 |
C |
T |
1: 64,977,145 (GRCm39) |
W108* |
probably null |
Het |
| Ptcd3 |
A |
G |
6: 71,879,920 (GRCm39) |
S113P |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,404,842 (GRCm39) |
L42P |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,739 (GRCm39) |
C710Y |
probably damaging |
Het |
| Skint1 |
A |
C |
4: 111,876,253 (GRCm39) |
Q58P |
probably damaging |
Het |
| Spata7 |
A |
T |
12: 98,635,590 (GRCm39) |
N438I |
probably damaging |
Het |
| Spdya |
C |
A |
17: 71,876,126 (GRCm39) |
D164E |
probably damaging |
Het |
| Speer3 |
G |
A |
5: 13,844,782 (GRCm39) |
|
probably null |
Het |
| Ssc4d |
A |
T |
5: 135,999,050 (GRCm39) |
L51H |
probably damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,579 (GRCm39) |
I123T |
possibly damaging |
Het |
| Styx |
T |
A |
14: 45,608,483 (GRCm39) |
F147I |
possibly damaging |
Het |
| Suv39h2 |
T |
A |
2: 3,475,890 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,373,446 (GRCm39) |
V84A |
probably benign |
Het |
| Tlcd1 |
T |
G |
11: 78,069,762 (GRCm39) |
V25G |
probably benign |
Het |
| Tmem79 |
T |
C |
3: 88,239,870 (GRCm39) |
Y280C |
probably damaging |
Het |
| Trim5 |
T |
A |
7: 103,926,042 (GRCm39) |
N173I |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,208,027 (GRCm39) |
D194E |
probably damaging |
Het |
| Zfp2 |
T |
C |
11: 50,790,984 (GRCm39) |
E353G |
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 |
|
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'- CTTAAGGCTCTGCTGGGTTC -3'
(R):5'- TCCATGCAAACGCTTTAGACAC -3'
Sequencing Primer
(F):5'- CTGCTGGGTTCTTCATAGATACAGAG -3'
(R):5'- TGCAAACGCTTTAGACACTTCAC -3'
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| Posted On |
2016-10-26 |
Incidental Mutation