Incidental Mutation 'R8168:Hdgfl2'
| ID |
633922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdgfl2
|
| Ensembl Gene |
ENSMUSG00000002833 |
| Gene Name |
HDGF like 2 |
| Synonyms |
HRP-2, Hdgfrp2 |
| MMRRC Submission |
067594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R8168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56386634-56407607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56389282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 52
(F52S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002911]
|
| AlphaFold |
Q3UMU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002911
AA Change: F52S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833
AA Change: F52S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,816,857 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,624,831 (GRCm39) |
T862A |
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,560,983 (GRCm39) |
S404P |
possibly damaging |
Het |
| Catsperz |
A |
G |
19: 6,900,020 (GRCm39) |
S162P |
possibly damaging |
Het |
| Cfap410 |
G |
A |
10: 77,818,778 (GRCm39) |
A150T |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,744,739 (GRCm39) |
S2170T |
unknown |
Het |
| Copa |
A |
T |
1: 171,927,239 (GRCm39) |
H204L |
probably damaging |
Het |
| Cwc22 |
A |
C |
2: 77,757,615 (GRCm39) |
V171G |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,007,646 (GRCm39) |
|
probably null |
Het |
| Flrt1 |
G |
A |
19: 7,074,002 (GRCm39) |
L182F |
probably damaging |
Het |
| Foxf1 |
T |
C |
8: 121,811,901 (GRCm39) |
V255A |
probably damaging |
Het |
| Gnptab |
G |
T |
10: 88,254,995 (GRCm39) |
A194S |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,526,686 (GRCm39) |
R386C |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,506,695 (GRCm39) |
T16S |
possibly damaging |
Het |
| Htt |
A |
G |
5: 35,040,300 (GRCm39) |
N2154S |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,675,094 (GRCm39) |
D952V |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,639,999 (GRCm39) |
W65R |
probably null |
Het |
| Mef2c |
G |
T |
13: 83,804,469 (GRCm39) |
L356F |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,201,767 (GRCm39) |
S319R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,720,732 (GRCm39) |
V288I |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,711,968 (GRCm39) |
I713N |
probably damaging |
Het |
| Nelfa |
A |
T |
5: 34,079,251 (GRCm39) |
N107K |
possibly damaging |
Het |
| Nim1k |
A |
T |
13: 120,174,288 (GRCm39) |
V202D |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,206 (GRCm39) |
T726A |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,120 (GRCm39) |
M274L |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,543 (GRCm39) |
H159L |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,975,401 (GRCm39) |
P330L |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,258,263 (GRCm39) |
A514T |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,601 (GRCm39) |
E357D |
unknown |
Het |
| Ptp4a3 |
T |
G |
15: 73,628,695 (GRCm39) |
Y152D |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,538,779 (GRCm39) |
C389R |
unknown |
Het |
| Rcc1 |
T |
C |
4: 132,063,096 (GRCm39) |
E170G |
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,942,300 (GRCm39) |
T775M |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,141,695 (GRCm39) |
V1825D |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,478,739 (GRCm39) |
H195Q |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,096 (GRCm39) |
D254V |
probably damaging |
Het |
| Vps13a |
A |
C |
19: 16,726,912 (GRCm39) |
I244M |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTACAGATTGATGACATTGCTG -3'
(R):5'- TGGAAGTTTCTGAGGAAGCCC -3'
Sequencing Primer
(F):5'- ATGACATTGCTGATGGTGCC -3'
(R):5'- TCCTGGGAGCCTATAGATGCTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation