Incidental Mutation 'R0132:Hp1bp3'
| ID |
60532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hp1bp3
|
| Ensembl Gene |
ENSMUSG00000028759 |
| Gene Name |
heterochromatin protein 1, binding protein 3 |
| Synonyms |
Hp1bp74 |
| MMRRC Submission |
038417-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R0132 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137943607-137971994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137964520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 348
(S348F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030541]
[ENSMUST00000097836]
[ENSMUST00000105825]
[ENSMUST00000105826]
[ENSMUST00000105827]
[ENSMUST00000148681]
[ENSMUST00000165861]
|
| AlphaFold |
Q3TEA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030541
AA Change: S348F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: S348F
| 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: S310F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759
AA Change: S310F
| 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: S310F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759
AA Change: S310F
| 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: S348F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: S348F
| 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: S348F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: S348F
| 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: ENSMUST00000148681
AA Change: S184F
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122005
Gene: ENSMUSG00000028759
AA Change: S184F
| 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: ENSMUST00000155344
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165861
AA Change: S348F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: S348F
| 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 |
0.1066 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.9%
- 10x: 94.2%
- 20x: 84.8%
|
| Validation Efficiency |
90% (52/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,258,197 (GRCm39) |
I773T |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,260,960 (GRCm39) |
I1057N |
possibly damaging |
Het |
| Anxa5 |
G |
A |
3: 36,504,821 (GRCm39) |
A247V |
probably damaging |
Het |
| Ascc3 |
T |
G |
10: 50,611,425 (GRCm39) |
W1589G |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,770,743 (GRCm39) |
P389S |
probably damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,824,851 (GRCm39) |
S9T |
probably benign |
Het |
| Cfhr4 |
T |
A |
1: 139,682,009 (GRCm39) |
T196S |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,442,783 (GRCm39) |
V589A |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,671,713 (GRCm39) |
M1V |
probably null |
Het |
| Col16a1 |
T |
A |
4: 129,960,889 (GRCm39) |
V449E |
unknown |
Het |
| Cttnbp2nl |
T |
G |
3: 104,913,173 (GRCm39) |
K237T |
probably damaging |
Het |
| Dazap1 |
T |
G |
10: 80,114,060 (GRCm39) |
|
probably null |
Het |
| Fam187b |
T |
A |
7: 30,688,545 (GRCm39) |
V22E |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,837,040 (GRCm39) |
R320G |
probably damaging |
Het |
| H2-T24 |
T |
A |
17: 36,325,878 (GRCm39) |
I238F |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,471,087 (GRCm39) |
E2658G |
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,388,192 (GRCm39) |
I3826L |
probably benign |
Het |
| Hinfp |
A |
G |
9: 44,211,060 (GRCm39) |
C67R |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,279,198 (GRCm39) |
Y3094H |
probably damaging |
Het |
| Htr1f |
A |
G |
16: 64,747,091 (GRCm39) |
V67A |
probably damaging |
Het |
| Iqcc |
T |
G |
4: 129,510,392 (GRCm39) |
E374D |
probably damaging |
Het |
| Kcnj9 |
T |
C |
1: 172,153,765 (GRCm39) |
T120A |
probably damaging |
Het |
| Kitl |
C |
T |
10: 99,923,226 (GRCm39) |
P208S |
probably benign |
Het |
| Lpcat4 |
A |
G |
2: 112,077,093 (GRCm39) |
Y479C |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,371,016 (GRCm39) |
N227S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,163,473 (GRCm39) |
V1007D |
probably damaging |
Het |
| Mocos |
T |
G |
18: 24,812,819 (GRCm39) |
I571S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,183,014 (GRCm39) |
N659D |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,320,296 (GRCm39) |
V240A |
probably benign |
Het |
| Nap1l1 |
T |
C |
10: 111,321,370 (GRCm39) |
S37P |
probably benign |
Het |
| Nin |
T |
G |
12: 70,097,915 (GRCm39) |
K515T |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,384,864 (GRCm39) |
K258* |
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,480,569 (GRCm39) |
S98T |
possibly damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,152 (GRCm39) |
V223A |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5k14 |
C |
A |
16: 58,693,269 (GRCm39) |
M81I |
probably benign |
Het |
| Ppox |
C |
A |
1: 171,106,849 (GRCm39) |
A192S |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,531,517 (GRCm39) |
L1380S |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,295,363 (GRCm39) |
A839E |
probably damaging |
Het |
| Ptprn2 |
T |
G |
12: 116,685,711 (GRCm39) |
F57V |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 162,120,030 (GRCm39) |
V146I |
probably benign |
Het |
| R3hdm2 |
T |
A |
10: 127,334,322 (GRCm39) |
M915K |
probably damaging |
Het |
| Rab26 |
C |
T |
17: 24,749,759 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,681,673 (GRCm39) |
K407E |
probably damaging |
Het |
| Siah3 |
G |
A |
14: 75,693,574 (GRCm39) |
V27I |
possibly damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,235,338 (GRCm39) |
N280Y |
probably damaging |
Het |
| Slc25a35 |
A |
G |
11: 68,862,786 (GRCm39) |
Y247C |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Slc35d1 |
C |
T |
4: 103,065,378 (GRCm39) |
V189I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,067,884 (GRCm39) |
R322* |
probably null |
Het |
| Stac3 |
A |
T |
10: 127,339,519 (GRCm39) |
R138S |
probably damaging |
Het |
| Tmem260 |
T |
A |
14: 48,720,779 (GRCm39) |
C306* |
probably null |
Het |
| Tspyl1 |
A |
G |
10: 34,159,085 (GRCm39) |
N270S |
probably damaging |
Het |
| Ugt2a2 |
T |
A |
5: 87,622,720 (GRCm39) |
K293* |
probably null |
Het |
| Vmn2r102 |
A |
C |
17: 19,899,025 (GRCm39) |
T456P |
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,932,511 (GRCm39) |
S139R |
probably benign |
Het |
| Zmym2 |
A |
G |
14: 57,180,715 (GRCm39) |
N876D |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTATCTGTGCTGAGGCAGGAG -3'
(R):5'- ACCTAGCACCTGAAAAGCTGAGGC -3'
Sequencing Primer
(F):5'- CTGAGGCAGGAGCCGAC -3'
(R):5'- ggatcaaactcacaatcatctatcac -3'
|
| Posted On |
2013-07-24 |
Incidental Mutation