Incidental Mutation 'R8349:Hrg'
| ID |
645440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrg
|
| Ensembl Gene |
ENSMUSG00000022877 |
| Gene Name |
histidine-rich glycoprotein |
| Synonyms |
D18020, D16JH2 |
| MMRRC Submission |
067803-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R8349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22769822-22780406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22780286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 521
(S521R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023590]
[ENSMUST00000232422]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023590
AA Change: S521R
|
| SMART Domains |
Protein: ENSMUSP00000023590
Gene: ENSMUSG00000022877
AA Change: S521R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
G |
11: 105,885,768 (GRCm39) |
E58G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,629,302 (GRCm39) |
F4I |
possibly damaging |
Het |
| Arih2 |
T |
C |
9: 108,488,872 (GRCm39) |
D282G |
possibly damaging |
Het |
| Atp7b |
C |
T |
8: 22,503,556 (GRCm39) |
V733I |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,845,861 (GRCm39) |
D370G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,975,260 (GRCm39) |
H74R |
|
Het |
| Clec9a |
C |
A |
6: 129,387,292 (GRCm39) |
A49E |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,666,840 (GRCm39) |
|
probably null |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,428 (GRCm39) |
M412T |
possibly damaging |
Het |
| Dhrs7l |
T |
C |
12: 72,659,340 (GRCm39) |
N145D |
probably damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,966,815 (GRCm39) |
Q399R |
possibly damaging |
Het |
| Fam47e |
C |
A |
5: 92,702,990 (GRCm39) |
R21S |
probably benign |
Het |
| Gimap4 |
A |
G |
6: 48,667,694 (GRCm39) |
I150V |
probably damaging |
Het |
| Gm7361 |
T |
A |
5: 26,465,387 (GRCm39) |
M128K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,468,068 (GRCm39) |
E190K |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,940,286 (GRCm39) |
S396P |
probably damaging |
Het |
| Itih5 |
A |
G |
2: 10,191,800 (GRCm39) |
T112A |
probably benign |
Het |
| Ly9 |
T |
A |
1: 171,421,586 (GRCm39) |
N555I |
probably damaging |
Het |
| Morc2b |
C |
T |
17: 33,355,775 (GRCm39) |
E666K |
probably benign |
Het |
| Mup8 |
C |
A |
4: 60,222,382 (GRCm39) |
V30L |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,418,593 (GRCm39) |
E268D |
probably damaging |
Het |
| Nr4a3 |
G |
T |
4: 48,052,170 (GRCm39) |
R308L |
probably benign |
Het |
| Or10k2 |
A |
T |
8: 84,268,301 (GRCm39) |
H176L |
probably damaging |
Het |
| Or14j1 |
A |
G |
17: 38,146,561 (GRCm39) |
R224G |
probably damaging |
Het |
| Or4c10 |
A |
T |
2: 89,760,878 (GRCm39) |
I242L |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Or8k33 |
T |
G |
2: 86,383,980 (GRCm39) |
I163L |
probably benign |
Het |
| Plcd3 |
A |
G |
11: 102,965,496 (GRCm39) |
Y530H |
probably damaging |
Het |
| Pou2af1 |
A |
T |
9: 51,144,326 (GRCm39) |
E80V |
probably damaging |
Het |
| Scgb2b18 |
C |
T |
7: 32,872,656 (GRCm39) |
D50N |
probably benign |
Het |
| Sis |
C |
T |
3: 72,810,984 (GRCm39) |
G1679D |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,386,519 (GRCm39) |
M173K |
possibly damaging |
Het |
| Ston2 |
T |
C |
12: 91,608,649 (GRCm39) |
D817G |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,344,428 (GRCm39) |
F1431Y |
probably benign |
Het |
| Uevld |
T |
A |
7: 46,595,055 (GRCm39) |
N179I |
probably damaging |
Het |
| Utp6 |
G |
T |
11: 79,836,610 (GRCm39) |
Q375K |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,785 (GRCm39) |
E322D |
probably damaging |
Het |
| Wnt5a |
A |
G |
14: 28,235,108 (GRCm39) |
M51V |
probably benign |
Het |
| Zfp202 |
A |
T |
9: 40,118,976 (GRCm39) |
R130* |
probably null |
Het |
| Zfp949 |
G |
T |
9: 88,449,302 (GRCm39) |
V36L |
possibly 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 |
|
|
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 |
|
|
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'- ATCGGGGCTATGGTCCACC -3'
(R):5'- GCCCATCTGTCTCATTCTGG -3'
Sequencing Primer
(F):5'- TCCAGGCAAAGGACTCTTTC -3'
(R):5'- GGCTTCTTTCCCATACTTCCCTATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation