Incidental Mutation 'R5042:Hp1bp3'
ID |
393245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hp1bp3
|
Ensembl Gene |
ENSMUSG00000028759 |
Gene Name |
heterochromatin protein 1, binding protein 3 |
Synonyms |
Hp1bp74 |
MMRRC Submission |
042632-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R5042 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
137943607-137971994 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 137949419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095447
(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: M39K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030541 Gene: ENSMUSG00000028759 AA Change: M39K
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 null
Transcript: ENSMUST00000097836
AA Change: M1K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095447 Gene: ENSMUSG00000028759 AA Change: M1K
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 null
Transcript: ENSMUST00000105825
AA Change: M1K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101451 Gene: ENSMUSG00000028759 AA Change: M1K
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: M39K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101452 Gene: ENSMUSG00000028759 AA Change: M39K
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: M39K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101453 Gene: ENSMUSG00000028759 AA Change: M39K
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 null
Transcript: ENSMUST00000124305
AA Change: M1K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120587 Gene: ENSMUSG00000028759 AA Change: M1K
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 |
possibly damaging
Transcript: ENSMUST00000130071
AA Change: M39K
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137851
AA Change: M1K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118913 Gene: ENSMUSG00000028759 AA Change: M1K
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: M39K
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117216 Gene: ENSMUSG00000028759 AA Change: M39K
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: M39K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132614 Gene: ENSMUSG00000028759 AA Change: M39K
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 |
0.7248 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
Validation Efficiency |
100% (57/57) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
T |
A |
7: 29,273,927 (GRCm39) |
|
noncoding transcript |
Het |
4933413J09Rik |
C |
A |
14: 26,097,436 (GRCm39) |
|
noncoding transcript |
Het |
Aldh1a2 |
A |
G |
9: 71,192,286 (GRCm39) |
I413V |
possibly damaging |
Het |
Alpk2 |
C |
T |
18: 65,483,579 (GRCm39) |
W143* |
probably null |
Het |
Anpep |
G |
T |
7: 79,489,217 (GRCm39) |
N318K |
probably benign |
Het |
Art5 |
A |
T |
7: 101,748,672 (GRCm39) |
L10H |
probably damaging |
Het |
Atg2b |
T |
G |
12: 105,587,521 (GRCm39) |
H1981P |
probably benign |
Het |
B3gnt3 |
T |
C |
8: 72,145,532 (GRCm39) |
T279A |
probably damaging |
Het |
Bmp10 |
G |
T |
6: 87,411,039 (GRCm39) |
E277D |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,916,255 (GRCm39) |
T191A |
probably damaging |
Het |
Dars2 |
T |
A |
1: 160,872,664 (GRCm39) |
|
probably benign |
Het |
F5 |
T |
A |
1: 164,047,020 (GRCm39) |
I2160N |
probably damaging |
Het |
Fndc7 |
A |
T |
3: 108,770,102 (GRCm39) |
V608D |
probably damaging |
Het |
Gad1-ps |
A |
T |
10: 99,281,516 (GRCm39) |
|
noncoding transcript |
Het |
Gbp2b |
A |
G |
3: 142,317,224 (GRCm39) |
K527E |
probably benign |
Het |
Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
Hes3 |
T |
A |
4: 152,371,500 (GRCm39) |
S150C |
possibly damaging |
Het |
Il17rd |
T |
A |
14: 26,817,998 (GRCm39) |
V229E |
probably damaging |
Het |
Iqch |
A |
G |
9: 63,403,516 (GRCm39) |
M634T |
possibly damaging |
Het |
Magel2 |
C |
T |
7: 62,029,354 (GRCm39) |
R753W |
unknown |
Het |
Med26 |
A |
G |
8: 73,250,919 (GRCm39) |
V60A |
probably damaging |
Het |
Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
Nat1 |
T |
G |
8: 67,944,228 (GRCm39) |
D201E |
probably benign |
Het |
Nav3 |
G |
T |
10: 109,605,129 (GRCm39) |
S981R |
probably benign |
Het |
Nbn |
C |
A |
4: 15,981,446 (GRCm39) |
L513M |
probably benign |
Het |
Nfatc3 |
T |
C |
8: 106,834,757 (GRCm39) |
V701A |
probably benign |
Het |
Nlrp9a |
A |
G |
7: 26,270,703 (GRCm39) |
D911G |
probably damaging |
Het |
Npr2 |
A |
T |
4: 43,647,002 (GRCm39) |
I712F |
probably damaging |
Het |
Oplah |
G |
A |
15: 76,189,909 (GRCm39) |
R235* |
probably null |
Het |
Or10a48 |
A |
G |
7: 108,424,678 (GRCm39) |
I176T |
possibly damaging |
Het |
Pcdha11 |
T |
A |
18: 37,144,649 (GRCm39) |
Y247N |
probably damaging |
Het |
Pcdhga9 |
A |
G |
18: 37,870,630 (GRCm39) |
Y153C |
probably damaging |
Het |
Pkd1 |
A |
T |
17: 24,788,861 (GRCm39) |
D873V |
probably benign |
Het |
Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
Ppfia3 |
A |
G |
7: 44,991,765 (GRCm39) |
V839A |
probably damaging |
Het |
Ppm1j |
A |
T |
3: 104,690,036 (GRCm39) |
Q148L |
probably null |
Het |
Prune2 |
T |
A |
19: 17,097,161 (GRCm39) |
N888K |
possibly damaging |
Het |
Sh3bgr |
A |
G |
16: 96,007,066 (GRCm39) |
D12G |
probably benign |
Het |
Snph |
T |
A |
2: 151,442,977 (GRCm39) |
I35F |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 99,979,465 (GRCm39) |
D1442V |
probably damaging |
Het |
Spidr |
T |
C |
16: 15,936,767 (GRCm39) |
T113A |
probably benign |
Het |
St13 |
A |
T |
15: 81,249,693 (GRCm39) |
N349K |
probably damaging |
Het |
Ttll6 |
C |
T |
11: 96,045,430 (GRCm39) |
S549F |
possibly damaging |
Het |
Uap1l1 |
A |
T |
2: 25,252,097 (GRCm39) |
S473T |
possibly damaging |
Het |
Vmn1r54 |
T |
C |
6: 90,246,422 (GRCm39) |
V112A |
possibly damaging |
Het |
Vmn2r57 |
G |
A |
7: 41,078,086 (GRCm39) |
S124L |
probably benign |
Het |
Wasf2 |
A |
T |
4: 132,903,875 (GRCm39) |
R28W |
probably benign |
Het |
Wwp2 |
T |
A |
8: 108,275,117 (GRCm39) |
N417K |
possibly damaging |
Het |
Zc3h13 |
A |
T |
14: 75,576,836 (GRCm39) |
D1648V |
probably 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 |
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'- AAGGCTCTGCTGGGTTCTTC -3'
(R):5'- ATGCAAACGCTTTAGACACTTCAC -3'
Sequencing Primer
(F):5'- CTGCTGGGTTCTTCATAGATACAGAG -3'
(R):5'- GCTTTAGACACTTCACTACAAGC -3'
|
Posted On |
2016-06-15 |