Incidental Mutation 'IGL01486:Hdgfl2'
ID |
88756 |
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: 0.166)
|
Stock # |
IGL01486
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56386634-56407607 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 56405733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 481
(A481S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002908]
[ENSMUST00000002911]
[ENSMUST00000190703]
[ENSMUST00000226053]
[ENSMUST00000225843]
|
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: A480S
|
SMART Domains |
Protein: ENSMUSP00000002911 Gene: ENSMUSG00000002833 AA Change: A480S
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 |
noncoding transcript
Transcript: ENSMUST00000226035
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225342
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226053
AA Change: A481S
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225843
AA Change: A490S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225731
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225208
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alx3 |
G |
T |
3: 107,512,139 (GRCm39) |
C259F |
probably damaging |
Het |
Ampd3 |
G |
T |
7: 110,409,123 (GRCm39) |
|
probably benign |
Het |
Atm |
T |
C |
9: 53,421,513 (GRCm39) |
I733V |
probably benign |
Het |
Chrd |
A |
G |
16: 20,552,890 (GRCm39) |
|
probably null |
Het |
Ckm |
G |
A |
7: 19,155,156 (GRCm39) |
G262S |
probably damaging |
Het |
Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
Fbxw22 |
G |
T |
9: 109,207,941 (GRCm39) |
S443R |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,226,633 (GRCm39) |
V203M |
probably damaging |
Het |
Kdelr3 |
T |
A |
15: 79,407,048 (GRCm39) |
V43D |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,453,113 (GRCm39) |
K235E |
probably benign |
Het |
Macir |
A |
T |
1: 97,573,731 (GRCm39) |
S111R |
probably damaging |
Het |
Mapk1 |
A |
T |
16: 16,836,144 (GRCm39) |
|
probably benign |
Het |
Nfic |
T |
C |
10: 81,243,478 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
T |
C |
8: 117,786,331 (GRCm39) |
T625A |
probably benign |
Het |
Psd2 |
A |
G |
18: 36,113,388 (GRCm39) |
S287G |
probably benign |
Het |
Smap2 |
A |
T |
4: 120,830,395 (GRCm39) |
F247I |
probably damaging |
Het |
Spata4 |
T |
C |
8: 55,055,341 (GRCm39) |
|
probably benign |
Het |
Tff2 |
T |
G |
17: 31,361,316 (GRCm39) |
E79A |
probably benign |
Het |
Thsd7a |
C |
T |
6: 12,471,079 (GRCm39) |
C513Y |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,031,634 (GRCm39) |
S925P |
possibly damaging |
Het |
Xrcc4 |
C |
A |
13: 90,210,151 (GRCm39) |
E98* |
probably null |
Het |
Ypel3 |
A |
G |
7: 126,377,033 (GRCm39) |
T38A |
probably damaging |
Het |
Zfhx2 |
C |
T |
14: 55,304,547 (GRCm39) |
G1146R |
probably damaging |
Het |
Zfp446 |
T |
A |
7: 12,713,307 (GRCm39) |
|
probably null |
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 |
IGL02977:Hdgfl2
|
APN |
17 |
56,406,319 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |
2013-11-18 |