Incidental Mutation 'IGL00485:Hrob'
| ID |
6016 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hrob
|
| Ensembl Gene |
ENSMUSG00000034773 |
| Gene Name |
homologous recombination factor with OB-fold |
| Synonyms |
BC030867 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.481)
|
| Stock # |
IGL00485
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102139708-102156013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102146783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 353
(S353F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100392]
[ENSMUST00000133930]
|
| AlphaFold |
Q32P12 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100392
AA Change: S353F
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: S353F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
317 |
N/A |
INTRINSIC |
|
Pfam:DUF4539
|
458 |
541 |
4.4e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133930
AA Change: S353F
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: S353F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
317 |
N/A |
INTRINSIC |
|
Pfam:DUF4539
|
457 |
542 |
3.2e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152897
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
G |
A |
11: 97,383,497 (GRCm39) |
|
probably benign |
Het |
| Arhgef37 |
G |
A |
18: 61,656,942 (GRCm39) |
T41I |
probably damaging |
Het |
| Brms1 |
A |
C |
19: 5,099,070 (GRCm39) |
|
probably benign |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Col4a2 |
A |
G |
8: 11,489,012 (GRCm39) |
M1133V |
probably benign |
Het |
| Ctps1 |
T |
C |
4: 120,410,141 (GRCm39) |
Y314C |
probably damaging |
Het |
| Defa30 |
T |
A |
8: 21,625,467 (GRCm39) |
M77K |
probably benign |
Het |
| Eif3a |
T |
C |
19: 60,758,328 (GRCm39) |
R817G |
unknown |
Het |
| Entrep1 |
G |
A |
19: 23,962,086 (GRCm39) |
R306W |
probably damaging |
Het |
| Ftdc2 |
A |
G |
16: 58,455,854 (GRCm39) |
Y140H |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,555,962 (GRCm39) |
S1725G |
possibly damaging |
Het |
| Hmgxb4 |
T |
C |
8: 75,756,131 (GRCm39) |
S545P |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 65,002,522 (GRCm39) |
E1049G |
possibly damaging |
Het |
| Mug1 |
T |
C |
6: 121,864,375 (GRCm39) |
V1424A |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,340,547 (GRCm39) |
V89A |
probably benign |
Het |
| Osbpl11 |
T |
G |
16: 33,062,115 (GRCm39) |
W741G |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,750,678 (GRCm39) |
V914A |
possibly damaging |
Het |
| Phldb2 |
T |
A |
16: 45,577,551 (GRCm39) |
I1117F |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,525,448 (GRCm39) |
L460* |
probably null |
Het |
| Pramel31 |
G |
A |
4: 144,090,012 (GRCm39) |
V351I |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,238,842 (GRCm39) |
I196F |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,673,244 (GRCm39) |
S1044P |
probably benign |
Het |
| Trim43b |
T |
C |
9: 88,973,695 (GRCm39) |
T13A |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,618,995 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,755,433 (GRCm39) |
I380T |
probably damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,171,872 (GRCm39) |
C229S |
probably benign |
Het |
|
| Other mutations in Hrob |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01645:Hrob
|
APN |
11 |
102,146,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01750:Hrob
|
APN |
11 |
102,145,777 (GRCm39) |
splice site |
probably benign |
|
|
IGL01759:Hrob
|
APN |
11 |
102,146,422 (GRCm39) |
missense |
probably benign |
|
|
IGL01760:Hrob
|
APN |
11 |
102,146,422 (GRCm39) |
missense |
probably benign |
|
|
IGL01761:Hrob
|
APN |
11 |
102,146,422 (GRCm39) |
missense |
probably benign |
|
|
IGL01762:Hrob
|
APN |
11 |
102,146,422 (GRCm39) |
missense |
probably benign |
|
|
IGL01764:Hrob
|
APN |
11 |
102,146,422 (GRCm39) |
missense |
probably benign |
|
|
IGL01769:Hrob
|
APN |
11 |
102,146,422 (GRCm39) |
missense |
probably benign |
|
|
IGL01778:Hrob
|
APN |
11 |
102,146,422 (GRCm39) |
missense |
probably benign |
|
|
IGL02156:Hrob
|
APN |
11 |
102,145,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02159:Hrob
|
APN |
11 |
102,150,991 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02284:Hrob
|
APN |
11 |
102,146,422 (GRCm39) |
missense |
probably benign |
|
|
IGL02522:Hrob
|
APN |
11 |
102,148,746 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02989:Hrob
|
APN |
11 |
102,146,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2376:Hrob
|
UTSW |
11 |
102,141,542 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2504:Hrob
|
UTSW |
11 |
102,146,122 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3731:Hrob
|
UTSW |
11 |
102,148,732 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5566:Hrob
|
UTSW |
11 |
102,146,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5774:Hrob
|
UTSW |
11 |
102,146,495 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5864:Hrob
|
UTSW |
11 |
102,145,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6013:Hrob
|
UTSW |
11 |
102,145,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6250:Hrob
|
UTSW |
11 |
102,145,888 (GRCm39) |
missense |
probably benign |
|
|
R7264:Hrob
|
UTSW |
11 |
102,146,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8013:Hrob
|
UTSW |
11 |
102,148,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8014:Hrob
|
UTSW |
11 |
102,148,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8266:Hrob
|
UTSW |
11 |
102,153,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8770:Hrob
|
UTSW |
11 |
102,145,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8982:Hrob
|
UTSW |
11 |
102,146,110 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9058:Hrob
|
UTSW |
11 |
102,146,386 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9498:Hrob
|
UTSW |
11 |
102,150,167 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9646:Hrob
|
UTSW |
11 |
102,146,586 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9647:Hrob
|
UTSW |
11 |
102,146,586 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9766:Hrob
|
UTSW |
11 |
102,146,586 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0062:Hrob
|
UTSW |
11 |
102,146,581 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0065:Hrob
|
UTSW |
11 |
102,141,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation