Incidental Mutation 'R7554:Hdlbp'
| ID |
584589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdlbp
|
| Ensembl Gene |
ENSMUSG00000034088 |
| Gene Name |
high density lipoprotein (HDL) binding protein |
| Synonyms |
1110005P14Rik, D1Ertd101e |
| MMRRC Submission |
045651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R7554 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93333662-93406537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93365031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 79
(V79M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042498]
[ENSMUST00000170883]
[ENSMUST00000186164]
[ENSMUST00000186787]
[ENSMUST00000188165]
[ENSMUST00000188988]
[ENSMUST00000189025]
[ENSMUST00000190321]
|
| AlphaFold |
Q8VDJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042498
AA Change: V79M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: V79M
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
149 |
217 |
1.97e-15 |
SMART |
|
KH
|
221 |
289 |
1.8e-9 |
SMART |
|
KH
|
294 |
362 |
1.73e-11 |
SMART |
|
KH
|
363 |
429 |
2.66e-12 |
SMART |
|
KH
|
434 |
502 |
9.18e-16 |
SMART |
|
KH
|
506 |
575 |
7.52e-12 |
SMART |
|
KH
|
580 |
648 |
7.68e-18 |
SMART |
|
KH
|
652 |
721 |
3.24e-16 |
SMART |
|
KH
|
726 |
795 |
1.33e-12 |
SMART |
|
KH
|
799 |
868 |
2.48e-12 |
SMART |
|
KH
|
872 |
972 |
3.03e-16 |
SMART |
|
KH
|
973 |
1039 |
4.56e-11 |
SMART |
|
KH
|
1051 |
1122 |
3.67e-15 |
SMART |
|
KH
|
1126 |
1195 |
3.37e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170883
AA Change: V79M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: V79M
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
149 |
217 |
1.97e-15 |
SMART |
|
KH
|
221 |
289 |
1.8e-9 |
SMART |
|
KH
|
294 |
362 |
1.73e-11 |
SMART |
|
KH
|
363 |
429 |
2.66e-12 |
SMART |
|
KH
|
434 |
502 |
9.18e-16 |
SMART |
|
KH
|
506 |
575 |
7.52e-12 |
SMART |
|
KH
|
580 |
648 |
7.68e-18 |
SMART |
|
KH
|
652 |
721 |
3.24e-16 |
SMART |
|
KH
|
726 |
795 |
1.33e-12 |
SMART |
|
KH
|
799 |
868 |
2.48e-12 |
SMART |
|
KH
|
872 |
972 |
3.03e-16 |
SMART |
|
KH
|
973 |
1039 |
4.56e-11 |
SMART |
|
KH
|
1051 |
1122 |
3.67e-15 |
SMART |
|
KH
|
1126 |
1195 |
3.37e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186164
AA Change: V79M
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: V79M
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
149 |
217 |
1.2e-17 |
SMART |
|
KH
|
221 |
289 |
1.1e-11 |
SMART |
|
KH
|
294 |
360 |
1.6e-14 |
SMART |
|
KH
|
365 |
433 |
5.7e-18 |
SMART |
|
KH
|
437 |
506 |
4.6e-14 |
SMART |
|
KH
|
511 |
579 |
4.7e-20 |
SMART |
|
KH
|
583 |
652 |
2e-18 |
SMART |
|
KH
|
657 |
726 |
7.9e-15 |
SMART |
|
KH
|
730 |
799 |
1.5e-14 |
SMART |
|
KH
|
803 |
903 |
1.8e-18 |
SMART |
|
KH
|
904 |
970 |
2.8e-13 |
SMART |
|
KH
|
982 |
1053 |
2.2e-17 |
SMART |
|
KH
|
1057 |
1126 |
2e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186787
AA Change: V79M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139719
Gene: ENSMUSG00000034088
AA Change: V79M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KH
|
74 |
140 |
2e-26 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188165
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188988
AA Change: V79M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140946
Gene: ENSMUSG00000034088
AA Change: V79M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KH
|
74 |
148 |
2e-28 |
BLAST |
|
Pfam:KH_1
|
152 |
177 |
2e-4 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189025
AA Change: V79M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140399
Gene: ENSMUSG00000034088
AA Change: V79M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KH
|
74 |
130 |
2e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190321
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,839,686 (GRCm39) |
F185I |
probably damaging |
Het |
| Abi3bp |
T |
A |
16: 56,438,575 (GRCm39) |
|
probably null |
Het |
| Acot5 |
T |
A |
12: 84,120,254 (GRCm39) |
L203H |
probably damaging |
Het |
| Alad |
C |
T |
4: 62,430,023 (GRCm39) |
|
probably null |
Het |
| Alkbh5 |
C |
T |
11: 60,429,415 (GRCm39) |
T56I |
probably benign |
Het |
| Apbb1ip |
G |
A |
2: 22,713,558 (GRCm39) |
D138N |
unknown |
Het |
| BC049715 |
T |
G |
6: 136,817,295 (GRCm39) |
S178R |
probably damaging |
Het |
| C1rb |
C |
A |
6: 124,557,365 (GRCm39) |
H501N |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,718,408 (GRCm39) |
M2327L |
probably benign |
Het |
| Cers4 |
G |
A |
8: 4,565,718 (GRCm39) |
V55I |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,461,753 (GRCm39) |
K545* |
probably null |
Het |
| Crb1 |
C |
T |
1: 139,265,019 (GRCm39) |
C133Y |
probably damaging |
Het |
| Cryba4 |
C |
T |
5: 112,398,969 (GRCm39) |
R25Q |
probably damaging |
Het |
| Cyp7b1 |
C |
T |
3: 18,151,610 (GRCm39) |
G201D |
probably benign |
Het |
| Dcun1d2 |
A |
T |
8: 13,331,077 (GRCm39) |
C18S |
probably benign |
Het |
| Ddx39b |
A |
T |
17: 35,466,006 (GRCm39) |
I176F |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,567,857 (GRCm39) |
I1913T |
possibly damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,816,296 (GRCm39) |
I198T |
probably damaging |
Het |
| Esp34 |
G |
A |
17: 38,866,782 (GRCm39) |
M75I |
probably benign |
Het |
| Fam98a |
G |
T |
17: 75,854,670 (GRCm39) |
C46* |
probably null |
Het |
| Fanci |
A |
T |
7: 79,062,500 (GRCm39) |
N342I |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,490,202 (GRCm39) |
I3705F |
possibly damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,883,620 (GRCm39) |
V598D |
|
Het |
| Gas2l2 |
G |
A |
11: 83,315,236 (GRCm39) |
Q306* |
probably null |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,335,292 (GRCm39) |
S378T |
unknown |
Het |
| Hao1 |
C |
T |
2: 134,372,538 (GRCm39) |
V157M |
possibly damaging |
Het |
| Htt |
G |
A |
5: 35,022,084 (GRCm39) |
R1676H |
probably damaging |
Het |
| Ift56 |
T |
A |
6: 38,362,435 (GRCm39) |
L70Q |
probably null |
Het |
| Klhl11 |
A |
G |
11: 100,354,774 (GRCm39) |
V349A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,031,492 (GRCm39) |
E1522G |
probably damaging |
Het |
| Map3k4 |
T |
A |
17: 12,451,300 (GRCm39) |
K1531M |
probably damaging |
Het |
| Map3k4 |
T |
A |
17: 12,451,301 (GRCm39) |
K1531* |
probably null |
Het |
| Mapk15 |
A |
G |
15: 75,867,745 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Mapt |
C |
A |
11: 104,189,528 (GRCm39) |
P182Q |
probably benign |
Het |
| Mgat4d |
A |
C |
8: 84,082,402 (GRCm39) |
K117N |
probably benign |
Het |
| Mid1 |
G |
T |
X: 168,769,010 (GRCm39) |
S468I |
possibly damaging |
Het |
| Mmp8 |
T |
C |
9: 7,563,112 (GRCm39) |
L225P |
probably damaging |
Het |
| Mrps31 |
A |
G |
8: 22,911,445 (GRCm39) |
K229R |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,513 (GRCm39) |
T1820S |
unknown |
Het |
| Myof |
T |
C |
19: 37,942,958 (GRCm39) |
T707A |
probably benign |
Het |
| Nckap5l |
A |
T |
15: 99,327,261 (GRCm39) |
S143T |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,341,345 (GRCm39) |
S2136P |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,919,270 (GRCm39) |
D1306V |
probably damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,349 (GRCm39) |
M92K |
probably damaging |
Het |
| Or1e1b-ps1 |
C |
T |
11: 73,845,630 (GRCm39) |
T38I |
probably damaging |
Het |
| Or2at1 |
T |
A |
7: 99,417,210 (GRCm39) |
N280K |
possibly damaging |
Het |
| Or52n1 |
T |
C |
7: 104,383,074 (GRCm39) |
I166V |
probably benign |
Het |
| Or56b1 |
T |
C |
7: 104,285,733 (GRCm39) |
M284T |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,709,769 (GRCm39) |
I271M |
probably benign |
Het |
| Pabpc4l |
T |
A |
3: 46,401,549 (GRCm39) |
T32S |
probably benign |
Het |
| Pcdhb10 |
A |
C |
18: 37,544,935 (GRCm39) |
T4P |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,358,866 (GRCm39) |
I358M |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,913,647 (GRCm39) |
E1178G |
|
Het |
| Prkcd |
A |
T |
14: 30,331,220 (GRCm39) |
Y52N |
probably damaging |
Het |
| Rasa3 |
G |
A |
8: 13,645,390 (GRCm39) |
T183M |
probably damaging |
Het |
| Rbm26 |
G |
T |
14: 105,398,029 (GRCm39) |
A31D |
unknown |
Het |
| Scara3 |
T |
C |
14: 66,158,299 (GRCm39) |
T570A |
possibly damaging |
Het |
| Sec24d |
T |
A |
3: 123,149,423 (GRCm39) |
V810D |
probably damaging |
Het |
| Sgcz |
A |
T |
8: 38,030,426 (GRCm39) |
|
probably null |
Het |
| Stt3b |
A |
G |
9: 115,109,477 (GRCm39) |
|
probably null |
Het |
| Synpo |
G |
T |
18: 60,736,405 (GRCm39) |
Q514K |
probably benign |
Het |
| Tagln2 |
G |
T |
1: 172,333,411 (GRCm39) |
K88N |
probably damaging |
Het |
| Tcaf1 |
T |
A |
6: 42,654,388 (GRCm39) |
K601N |
probably benign |
Het |
| Tent4a |
G |
T |
13: 69,648,191 (GRCm39) |
H734Q |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,153,811 (GRCm39) |
F371S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,671,652 (GRCm39) |
V11304E |
unknown |
Het |
| Ttn |
C |
T |
2: 76,706,207 (GRCm39) |
W9171* |
probably null |
Het |
| Vmn2r50 |
A |
T |
7: 9,784,066 (GRCm39) |
M136K |
probably null |
Het |
| Zfp518b |
G |
A |
5: 38,830,415 (GRCm39) |
P530L |
probably damaging |
Het |
| Zfp941 |
C |
A |
7: 140,391,970 (GRCm39) |
S463I |
possibly damaging |
Het |
|
| Other mutations in Hdlbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Hdlbp
|
APN |
1 |
93,357,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01321:Hdlbp
|
APN |
1 |
93,351,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01387:Hdlbp
|
APN |
1 |
93,341,310 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01443:Hdlbp
|
APN |
1 |
93,358,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01467:Hdlbp
|
APN |
1 |
93,345,420 (GRCm39) |
splice site |
probably benign |
|
|
IGL02223:Hdlbp
|
APN |
1 |
93,340,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02274:Hdlbp
|
APN |
1 |
93,336,229 (GRCm39) |
splice site |
probably null |
|
|
IGL02452:Hdlbp
|
APN |
1 |
93,345,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03079:Hdlbp
|
APN |
1 |
93,341,662 (GRCm39) |
splice site |
probably benign |
|
|
IGL03169:Hdlbp
|
APN |
1 |
93,344,309 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03229:Hdlbp
|
APN |
1 |
93,357,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0119:Hdlbp
|
UTSW |
1 |
93,349,059 (GRCm39) |
splice site |
probably benign |
|
|
R0432:Hdlbp
|
UTSW |
1 |
93,353,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0508:Hdlbp
|
UTSW |
1 |
93,342,533 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0530:Hdlbp
|
UTSW |
1 |
93,358,039 (GRCm39) |
unclassified |
probably benign |
|
|
R1276:Hdlbp
|
UTSW |
1 |
93,348,823 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1302:Hdlbp
|
UTSW |
1 |
93,351,107 (GRCm39) |
splice site |
probably null |
|
|
R1331:Hdlbp
|
UTSW |
1 |
93,348,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Hdlbp
|
UTSW |
1 |
93,345,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1623:Hdlbp
|
UTSW |
1 |
93,351,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Hdlbp
|
UTSW |
1 |
93,364,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Hdlbp
|
UTSW |
1 |
93,350,007 (GRCm39) |
intron |
probably benign |
|
|
R1900:Hdlbp
|
UTSW |
1 |
93,349,959 (GRCm39) |
intron |
probably benign |
|
|
R1984:Hdlbp
|
UTSW |
1 |
93,358,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1985:Hdlbp
|
UTSW |
1 |
93,358,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2066:Hdlbp
|
UTSW |
1 |
93,349,602 (GRCm39) |
intron |
probably benign |
|
|
R2277:Hdlbp
|
UTSW |
1 |
93,335,900 (GRCm39) |
nonsense |
probably null |
|
|
R2349:Hdlbp
|
UTSW |
1 |
93,349,956 (GRCm39) |
intron |
probably benign |
|
|
R3434:Hdlbp
|
UTSW |
1 |
93,355,883 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3978:Hdlbp
|
UTSW |
1 |
93,349,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Hdlbp
|
UTSW |
1 |
93,349,842 (GRCm39) |
intron |
probably benign |
|
|
R5196:Hdlbp
|
UTSW |
1 |
93,347,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5760:Hdlbp
|
UTSW |
1 |
93,368,499 (GRCm39) |
intron |
probably benign |
|
|
R6327:Hdlbp
|
UTSW |
1 |
93,357,186 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6420:Hdlbp
|
UTSW |
1 |
93,358,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6428:Hdlbp
|
UTSW |
1 |
93,359,167 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6468:Hdlbp
|
UTSW |
1 |
93,345,389 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6488:Hdlbp
|
UTSW |
1 |
93,355,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6592:Hdlbp
|
UTSW |
1 |
93,340,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6920:Hdlbp
|
UTSW |
1 |
93,340,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7156:Hdlbp
|
UTSW |
1 |
93,341,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Hdlbp
|
UTSW |
1 |
93,358,783 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7457:Hdlbp
|
UTSW |
1 |
93,355,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7498:Hdlbp
|
UTSW |
1 |
93,341,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7593:Hdlbp
|
UTSW |
1 |
93,358,005 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7672:Hdlbp
|
UTSW |
1 |
93,364,821 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7801:Hdlbp
|
UTSW |
1 |
93,358,029 (GRCm39) |
splice site |
probably null |
|
|
R7904:Hdlbp
|
UTSW |
1 |
93,351,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Hdlbp
|
UTSW |
1 |
93,366,064 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8113:Hdlbp
|
UTSW |
1 |
93,344,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8557:Hdlbp
|
UTSW |
1 |
93,341,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8690:Hdlbp
|
UTSW |
1 |
93,341,640 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8850:Hdlbp
|
UTSW |
1 |
93,359,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9288:Hdlbp
|
UTSW |
1 |
93,336,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9615:Hdlbp
|
UTSW |
1 |
93,358,014 (GRCm39) |
missense |
probably benign |
0.06 |
|
RF020:Hdlbp
|
UTSW |
1 |
93,368,456 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Hdlbp
|
UTSW |
1 |
93,359,076 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACAATGTCTTTGCGGGCTTTC -3'
(R):5'- AAAGGTCTTTCCATTGTGCCC -3'
Sequencing Primer
(F):5'- GCTTTCATGACGGCATCCAG -3'
(R):5'- GGTCTTTCCATTGTGCCCTTAGTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation