Incidental Mutation 'IGL02977:Hdgfl2'
| ID |
406441 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hdgfl2
|
| Ensembl Gene |
ENSMUSG00000002833 |
| Gene Name |
HDGF like 2 |
| Synonyms |
HRP-2, Hdgfrp2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
IGL02977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56386634-56407607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56406319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 569
(N569S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000002911]
[ENSMUST00000190703]
[ENSMUST00000225843]
[ENSMUST00000226053]
|
| AlphaFold |
Q3UMU9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002908
|
| SMART Domains |
Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
74 |
335 |
9.44e-7 |
PROSPERO |
|
internal_repeat_1
|
103 |
467 |
2.72e-12 |
PROSPERO |
|
internal_repeat_2
|
343 |
701 |
9.44e-7 |
PROSPERO |
|
internal_repeat_1
|
598 |
1090 |
2.72e-12 |
PROSPERO |
|
low complexity region
|
1124 |
1136 |
N/A |
INTRINSIC |
|
Pfam:Perilipin
|
1144 |
1385 |
2.3e-22 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000002911
AA Change: N568S
|
| SMART Domains |
Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833
AA Change: N568S
| Domain | Start | End | E-Value | Type |
|---|
|
PWWP
|
5 |
62 |
1.78e-19 |
SMART |
|
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
311 |
N/A |
INTRINSIC |
|
coiled coil region
|
321 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
411 |
N/A |
INTRINSIC |
|
Pfam:LEDGF
|
468 |
569 |
2.8e-31 |
PFAM |
|
internal_repeat_1
|
575 |
644 |
2.5e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190703
|
| SMART Domains |
Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
74 |
335 |
9.44e-7 |
PROSPERO |
|
internal_repeat_1
|
103 |
467 |
2.72e-12 |
PROSPERO |
|
internal_repeat_2
|
343 |
701 |
9.44e-7 |
PROSPERO |
|
internal_repeat_1
|
598 |
1090 |
2.72e-12 |
PROSPERO |
|
Pfam:Perilipin
|
1110 |
1385 |
1.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224655
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224701
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225843
AA Change: N578S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226053
AA Change: N569S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225731
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous mice exhibit an increased mean serum alkaline phosphatase level compared to controls. Female mutants exhibited a decreased mean skin fibroblast proliferation rate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
C |
T |
8: 125,587,930 (GRCm39) |
V57M |
probably benign |
Het |
| 4933440M02Rik |
T |
A |
7: 124,930,874 (GRCm39) |
|
noncoding transcript |
Het |
| Bmp5 |
A |
G |
9: 75,801,081 (GRCm39) |
T404A |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,985,976 (GRCm39) |
V1660A |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,387,069 (GRCm39) |
Y2121* |
probably null |
Het |
| Daam1 |
G |
A |
12: 71,990,946 (GRCm39) |
A187T |
unknown |
Het |
| Dnaja4 |
T |
C |
9: 54,621,794 (GRCm39) |
L343P |
possibly damaging |
Het |
| Dym |
T |
C |
18: 75,196,246 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
T |
1: 164,021,590 (GRCm39) |
D1355V |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,306,738 (GRCm39) |
I329N |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,768 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep1 |
T |
C |
13: 42,309,412 (GRCm39) |
S551P |
possibly damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,561 (GRCm39) |
|
probably benign |
Het |
| Hspe1 |
T |
C |
1: 55,130,232 (GRCm39) |
Y88H |
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,445,016 (GRCm39) |
M312K |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,620,747 (GRCm39) |
D3577A |
probably damaging |
Het |
| Mapk13 |
G |
T |
17: 28,995,322 (GRCm39) |
G181V |
probably damaging |
Het |
| Oprl1 |
G |
T |
2: 181,360,304 (GRCm39) |
C115F |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,956 (GRCm39) |
S259P |
possibly damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,915 (GRCm39) |
I122V |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,524 (GRCm39) |
D112G |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,265,599 (GRCm39) |
I395N |
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,674,120 (GRCm39) |
S823P |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,103,484 (GRCm39) |
L538P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,235 (GRCm39) |
Y216N |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tonsl |
T |
A |
15: 76,517,073 (GRCm39) |
Q882L |
probably benign |
Het |
| Trav13-2 |
C |
T |
14: 53,872,764 (GRCm39) |
T80I |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,773,662 (GRCm39) |
P388S |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,607,748 (GRCm39) |
R439G |
possibly damaging |
Het |
| Vmn2r18 |
C |
A |
5: 151,510,149 (GRCm39) |
A75S |
probably damaging |
Het |
|
| Other mutations in Hdgfl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01446:Hdgfl2
|
APN |
17 |
56,404,281 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01486:Hdgfl2
|
APN |
17 |
56,405,733 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03196:Hdgfl2
|
APN |
17 |
56,400,607 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03368:Hdgfl2
|
APN |
17 |
56,386,746 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0325:Hdgfl2
|
UTSW |
17 |
56,406,181 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0635:Hdgfl2
|
UTSW |
17 |
56,403,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1914:Hdgfl2
|
UTSW |
17 |
56,403,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1927:Hdgfl2
|
UTSW |
17 |
56,406,874 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2157:Hdgfl2
|
UTSW |
17 |
56,405,691 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2337:Hdgfl2
|
UTSW |
17 |
56,403,987 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4884:Hdgfl2
|
UTSW |
17 |
56,403,265 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5093:Hdgfl2
|
UTSW |
17 |
56,406,217 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5510:Hdgfl2
|
UTSW |
17 |
56,389,118 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6862:Hdgfl2
|
UTSW |
17 |
56,406,211 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7180:Hdgfl2
|
UTSW |
17 |
56,404,532 (GRCm39) |
splice site |
probably null |
|
|
R7389:Hdgfl2
|
UTSW |
17 |
56,406,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7564:Hdgfl2
|
UTSW |
17 |
56,406,860 (GRCm39) |
missense |
unknown |
|
|
R7921:Hdgfl2
|
UTSW |
17 |
56,400,724 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8168:Hdgfl2
|
UTSW |
17 |
56,389,282 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8348:Hdgfl2
|
UTSW |
17 |
56,406,370 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8415:Hdgfl2
|
UTSW |
17 |
56,400,712 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9070:Hdgfl2
|
UTSW |
17 |
56,389,371 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9541:Hdgfl2
|
UTSW |
17 |
56,405,976 (GRCm39) |
missense |
unknown |
|
|
R9657:Hdgfl2
|
UTSW |
17 |
56,405,978 (GRCm39) |
missense |
unknown |
|
|
Z1176:Hdgfl2
|
UTSW |
17 |
56,404,016 (GRCm39) |
missense |
probably null |
|
|
Z1176:Hdgfl2
|
UTSW |
17 |
56,386,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1177:Hdgfl2
|
UTSW |
17 |
56,406,343 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation