Incidental Mutation 'IGL01446:Hdgfl2'
| ID |
84436 |
| 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 # |
IGL01446
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56386634-56407607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56404281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 332
(R332C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153249
(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 |
possibly damaging
Transcript: ENSMUST00000002911
AA Change: R322C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833
AA Change: R322C
| 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: ENSMUST00000226053
AA Change: R323C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225843
AA Change: R332C
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226035
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Acaca |
A |
G |
11: 84,151,457 (GRCm39) |
K785R |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,377,677 (GRCm39) |
V401M |
probably damaging |
Het |
| Aff4 |
G |
T |
11: 53,306,296 (GRCm39) |
R1146L |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,673,683 (GRCm39) |
P3562T |
probably damaging |
Het |
| Arsj |
A |
G |
3: 126,232,463 (GRCm39) |
E403G |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,212,723 (GRCm39) |
V431I |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,735,560 (GRCm39) |
M904K |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,943,300 (GRCm39) |
T775S |
probably benign |
Het |
| Dennd1b |
G |
A |
1: 138,950,848 (GRCm39) |
E30K |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,815 (GRCm39) |
D2008G |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,392,672 (GRCm39) |
V460A |
probably damaging |
Het |
| Ell2 |
G |
T |
13: 75,910,110 (GRCm39) |
L285F |
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,314,529 (GRCm39) |
F218L |
probably benign |
Het |
| Fzd9 |
T |
C |
5: 135,279,420 (GRCm39) |
E155G |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,362,837 (GRCm39) |
W212R |
probably damaging |
Het |
| Gulp1 |
A |
G |
1: 44,783,708 (GRCm39) |
|
probably benign |
Het |
| Lratd1 |
A |
T |
12: 14,199,929 (GRCm39) |
I266N |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,018,530 (GRCm39) |
|
probably benign |
Het |
| Or4c12 |
A |
G |
2: 89,774,282 (GRCm39) |
F59S |
probably damaging |
Het |
| Or5a3 |
T |
C |
19: 12,400,165 (GRCm39) |
I164T |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,616 (GRCm39) |
T237I |
probably benign |
Het |
| Phf11b |
A |
C |
14: 59,578,740 (GRCm39) |
S9A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,295,407 (GRCm39) |
S854P |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,315 (GRCm39) |
D1963N |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,306,042 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,672,811 (GRCm39) |
S235P |
probably damaging |
Het |
| Sgip1 |
G |
T |
4: 102,786,110 (GRCm39) |
|
probably null |
Het |
| Skint5 |
G |
A |
4: 113,800,019 (GRCm39) |
P36L |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,502,490 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,174,479 (GRCm39) |
C669* |
probably null |
Het |
| Svil |
A |
T |
18: 5,062,385 (GRCm39) |
T902S |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,088,149 (GRCm39) |
S4989P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,640,283 (GRCm39) |
T13775M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,165,351 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
C |
T |
7: 45,858,380 (GRCm39) |
R636H |
possibly damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,651 (GRCm39) |
R315S |
probably benign |
Het |
| Vmn1r236 |
T |
A |
17: 21,506,918 (GRCm39) |
V12D |
probably benign |
Het |
| Wsb2 |
T |
G |
5: 117,509,229 (GRCm39) |
I170S |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly damaging |
Het |
|
| Other mutations in Hdgfl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01486:Hdgfl2
|
APN |
17 |
56,405,733 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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 |
2013-11-11 |
Incidental Mutation