Incidental Mutation 'R2447:Hrg'
| ID |
248908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrg
|
| Ensembl Gene |
ENSMUSG00000022877 |
| Gene Name |
histidine-rich glycoprotein |
| Synonyms |
D18020, D16JH2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R2447 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22769822-22780406 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 22779898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023590]
[ENSMUST00000232422]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023590
AA Change: H392L
|
| SMART Domains |
Protein: ENSMUSP00000023590
Gene: ENSMUSG00000022877
AA Change: H392L
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Foxo3 |
T |
C |
10: 42,073,816 (GRCm39) |
I15V |
probably benign |
Het |
| Gm12888 |
A |
T |
4: 121,175,547 (GRCm39) |
D78E |
possibly damaging |
Het |
| Gm4952 |
T |
A |
19: 12,595,770 (GRCm39) |
N53K |
possibly damaging |
Het |
| Mta3 |
C |
T |
17: 84,111,973 (GRCm39) |
T567I |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Panx1 |
A |
G |
9: 14,956,185 (GRCm39) |
I50T |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,102,995 (GRCm39) |
F1114L |
probably benign |
Het |
| Phf6 |
C |
G |
X: 52,042,435 (GRCm39) |
Q279E |
probably benign |
Het |
| Phip |
A |
G |
9: 82,797,452 (GRCm39) |
V517A |
probably damaging |
Het |
| Psmb5 |
C |
T |
14: 54,851,927 (GRCm39) |
V86I |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,114,666 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
A |
G |
14: 30,495,850 (GRCm39) |
I44M |
possibly damaging |
Het |
| Tmem89 |
A |
T |
9: 108,743,868 (GRCm39) |
D56V |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tshz3 |
T |
A |
7: 36,468,178 (GRCm39) |
C56S |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,778,284 (GRCm39) |
A1322S |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,833,724 (GRCm39) |
H188Y |
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 |
|
|
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'- TGGTGCCAACAGAACCCATAG -3'
(R):5'- CTGGGGAAATTGGCTTCAGG -3'
Sequencing Primer
(F):5'- CATAGACCCTCTTATAATCACAGTTG -3'
(R):5'- GAACTTCACCTATATTCAGTGGAGGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation