Incidental Mutation 'R3962:Hrg'
| ID |
312148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrg
|
| Ensembl Gene |
ENSMUSG00000022877 |
| Gene Name |
histidine-rich glycoprotein |
| Synonyms |
D18020, D16JH2 |
| MMRRC Submission |
040837-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R3962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
22769822-22780406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22774825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 152
(V152I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023590]
[ENSMUST00000232422]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023590
AA Change: V152I
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023590
Gene: ENSMUSG00000022877
AA Change: V152I
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
22 |
133 |
8.98e-4 |
SMART |
|
CY
|
146 |
251 |
1.3e-2 |
SMART |
|
low complexity region
|
347 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232422
AA Change: V152I
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1562 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display mild monocytosis, decreased bleeding time, faster clot lysis, and abnormal blood coagulation; however, wound healing is normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
| Ablim2 |
C |
T |
5: 35,969,519 (GRCm39) |
R211C |
probably damaging |
Het |
| Actn4 |
C |
A |
7: 28,597,647 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
| Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
| Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
| Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Fam161a |
T |
C |
11: 22,973,507 (GRCm39) |
M275T |
possibly damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Galk2 |
A |
T |
2: 125,735,293 (GRCm39) |
N107I |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
| Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
C |
T |
4: 86,530,041 (GRCm39) |
A4T |
possibly damaging |
Het |
| Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
| Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
| Klk1 |
A |
G |
7: 43,878,973 (GRCm39) |
T256A |
possibly damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
| Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,035,808 (GRCm39) |
D28G |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
| Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
| Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,662,068 (GRCm39) |
|
probably null |
Het |
| Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
| Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
| Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
probably damaging |
Het |
|
| Other mutations in Hrg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Hrg
|
APN |
16 |
22,777,909 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02795:Hrg
|
APN |
16 |
22,776,303 (GRCm39) |
unclassified |
probably benign |
|
|
R0042:Hrg
|
UTSW |
16 |
22,779,886 (GRCm39) |
unclassified |
probably benign |
|
|
R0184:Hrg
|
UTSW |
16 |
22,772,521 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1147:Hrg
|
UTSW |
16 |
22,779,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1147:Hrg
|
UTSW |
16 |
22,779,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1733:Hrg
|
UTSW |
16 |
22,769,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Hrg
|
UTSW |
16 |
22,774,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Hrg
|
UTSW |
16 |
22,773,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Hrg
|
UTSW |
16 |
22,774,949 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2281:Hrg
|
UTSW |
16 |
22,780,059 (GRCm39) |
unclassified |
probably benign |
|
|
R2447:Hrg
|
UTSW |
16 |
22,779,898 (GRCm39) |
unclassified |
probably benign |
|
|
R3963:Hrg
|
UTSW |
16 |
22,774,825 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4571:Hrg
|
UTSW |
16 |
22,779,972 (GRCm39) |
unclassified |
probably benign |
|
|
R4903:Hrg
|
UTSW |
16 |
22,779,901 (GRCm39) |
unclassified |
probably benign |
|
|
R4904:Hrg
|
UTSW |
16 |
22,770,000 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5236:Hrg
|
UTSW |
16 |
22,780,263 (GRCm39) |
unclassified |
probably benign |
|
|
R6020:Hrg
|
UTSW |
16 |
22,773,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Hrg
|
UTSW |
16 |
22,772,412 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6207:Hrg
|
UTSW |
16 |
22,773,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6374:Hrg
|
UTSW |
16 |
22,779,742 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7516:Hrg
|
UTSW |
16 |
22,780,048 (GRCm39) |
missense |
unknown |
|
|
R7606:Hrg
|
UTSW |
16 |
22,769,873 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R8190:Hrg
|
UTSW |
16 |
22,779,793 (GRCm39) |
missense |
unknown |
|
|
R8349:Hrg
|
UTSW |
16 |
22,780,286 (GRCm39) |
missense |
unknown |
|
|
R8449:Hrg
|
UTSW |
16 |
22,780,286 (GRCm39) |
missense |
unknown |
|
|
R8973:Hrg
|
UTSW |
16 |
22,777,968 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8998:Hrg
|
UTSW |
16 |
22,772,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9334:Hrg
|
UTSW |
16 |
22,780,061 (GRCm39) |
missense |
unknown |
|
|
Z1177:Hrg
|
UTSW |
16 |
22,772,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGCCTCGCTGATTGATC -3'
(R):5'- TGTACAGTGTACAGGGCTAGGC -3'
Sequencing Primer
(F):5'- GCCTCGCTGATTGATCTTGACAAG -3'
(R):5'- CGCTCAGCTCACCCCCG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation