Incidental Mutation 'R1147:Hrg'
ID |
165178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hrg
|
Ensembl Gene |
ENSMUSG00000022877 |
Gene Name |
histidine-rich glycoprotein |
Synonyms |
D18020, D16JH2 |
MMRRC Submission |
039220-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.339)
|
Stock # |
R1147 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
22769822-22780406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 22779754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 344
(C344F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023590
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023590]
[ENSMUST00000232422]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023590
AA Change: C344F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023590 Gene: ENSMUSG00000022877 AA Change: C344F
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 |
probably benign
Transcript: ENSMUST00000232422
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
Validation Efficiency |
98% (47/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
T |
C |
8: 41,248,655 (GRCm39) |
I255T |
possibly damaging |
Het |
Aknad1 |
T |
A |
3: 108,659,857 (GRCm39) |
N290K |
possibly damaging |
Het |
Ano8 |
C |
A |
8: 71,934,661 (GRCm39) |
V447F |
probably damaging |
Het |
Arhgef12 |
C |
T |
9: 42,955,552 (GRCm39) |
|
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Ash1l |
A |
T |
3: 88,892,194 (GRCm39) |
M1358L |
possibly damaging |
Het |
Ccdc110 |
A |
G |
8: 46,397,121 (GRCm39) |
K837E |
possibly damaging |
Het |
Cd19 |
T |
A |
7: 126,010,217 (GRCm39) |
D384V |
possibly damaging |
Het |
Ces1f |
C |
T |
8: 93,984,909 (GRCm39) |
V473I |
possibly damaging |
Het |
Chd6 |
C |
T |
2: 160,832,191 (GRCm39) |
E994K |
probably damaging |
Het |
Col5a2 |
G |
T |
1: 45,415,931 (GRCm39) |
N1405K |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,379,426 (GRCm39) |
D3720G |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,789,939 (GRCm39) |
T199A |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Flacc1 |
A |
T |
1: 58,708,622 (GRCm39) |
Y215N |
probably damaging |
Het |
Htt |
T |
C |
5: 35,008,596 (GRCm39) |
Y1462H |
probably damaging |
Het |
Kcnh2 |
T |
A |
5: 24,529,385 (GRCm39) |
I784F |
probably damaging |
Het |
Kifc3 |
T |
C |
8: 95,864,546 (GRCm39) |
T55A |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lsamp |
G |
A |
16: 41,994,499 (GRCm39) |
|
probably benign |
Het |
Meis3 |
G |
A |
7: 15,917,701 (GRCm39) |
|
probably benign |
Het |
Nlrp4d |
A |
T |
7: 10,122,644 (GRCm39) |
N73K |
probably benign |
Het |
Oog3 |
A |
G |
4: 143,884,982 (GRCm39) |
F318S |
possibly damaging |
Het |
Or2a20 |
A |
T |
6: 43,194,146 (GRCm39) |
T100S |
probably damaging |
Het |
Or52w1 |
G |
A |
7: 105,018,484 (GRCm39) |
R308Q |
probably benign |
Het |
Pde5a |
C |
T |
3: 122,587,962 (GRCm39) |
T376M |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,400,837 (GRCm39) |
I2204V |
probably null |
Het |
Ppp1r13l |
A |
G |
7: 19,109,772 (GRCm39) |
D731G |
probably damaging |
Het |
Prob1 |
G |
A |
18: 35,787,859 (GRCm39) |
Q132* |
probably null |
Het |
Ptk6 |
C |
T |
2: 180,837,590 (GRCm39) |
G443D |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,730,504 (GRCm39) |
D749G |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,749,265 (GRCm39) |
D1212E |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,434,966 (GRCm39) |
Y290C |
probably damaging |
Het |
Scamp1 |
A |
G |
13: 94,361,394 (GRCm39) |
|
probably null |
Het |
Slc6a11 |
T |
A |
6: 114,221,831 (GRCm39) |
I507N |
possibly damaging |
Het |
Stx18 |
T |
G |
5: 38,284,267 (GRCm39) |
|
probably benign |
Het |
Sybu |
A |
T |
15: 44,609,651 (GRCm39) |
F78I |
probably damaging |
Het |
Tecpr2 |
T |
G |
12: 110,907,872 (GRCm39) |
|
probably benign |
Het |
Tox |
A |
T |
4: 6,823,055 (GRCm39) |
N87K |
possibly damaging |
Het |
Trrap |
G |
A |
5: 144,741,576 (GRCm39) |
G1308R |
probably damaging |
Het |
Trub2 |
A |
G |
2: 29,677,644 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
A |
T |
17: 23,530,037 (GRCm39) |
H123Q |
probably benign |
Het |
Vmn2r15 |
T |
A |
5: 109,441,072 (GRCm39) |
Y262F |
probably damaging |
Het |
Vmn2r33 |
C |
T |
7: 7,557,144 (GRCm39) |
E519K |
probably benign |
Het |
Zfat |
A |
T |
15: 68,084,432 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
A |
T |
2: 120,351,017 (GRCm39) |
C1545S |
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 |
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 |
|
R3962:Hrg
|
UTSW |
16 |
22,774,825 (GRCm39) |
missense |
possibly damaging |
0.85 |
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'- GATAAACTTGGATGCCCACCTCCAC -3'
(R):5'- TGGACCATAGCCCCGATGATACTG -3'
Sequencing Primer
(F):5'- TCCACCAGAAGGAAAAGATAACTCAG -3'
(R):5'- aggatggtgaccgtggg -3'
|
Posted On |
2014-03-28 |