Incidental Mutation 'IGL01764:Hrob'
ID |
278858 |
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 # |
IGL01764
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
102139708-102156013 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102146422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 233
(C233R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100392]
[ENSMUST00000133930]
|
AlphaFold |
Q32P12 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100392
AA Change: C233R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097961 Gene: ENSMUSG00000034773 AA Change: C233R
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 |
probably benign
Transcript: ENSMUST00000133930
AA Change: C233R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137686 Gene: ENSMUSG00000034773 AA Change: C233R
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
T |
10: 86,909,910 (GRCm39) |
M1L |
probably benign |
Het |
BC025920 |
T |
A |
10: 81,444,984 (GRCm39) |
Y36N |
probably damaging |
Het |
Cdk11b |
G |
A |
4: 155,713,260 (GRCm39) |
R112H |
possibly damaging |
Het |
Ctu2 |
G |
A |
8: 123,206,161 (GRCm39) |
|
probably benign |
Het |
Ddx56 |
A |
C |
11: 6,215,692 (GRCm39) |
V219G |
probably null |
Het |
Dnah14 |
T |
C |
1: 181,572,342 (GRCm39) |
V2891A |
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,178,423 (GRCm39) |
N1938K |
probably damaging |
Het |
Fbxw20 |
A |
G |
9: 109,052,427 (GRCm39) |
M302T |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gpat2 |
T |
C |
2: 127,269,456 (GRCm39) |
I36T |
probably benign |
Het |
Gsta5 |
A |
T |
9: 78,211,789 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
G |
2: 31,295,642 (GRCm39) |
E2617G |
possibly damaging |
Het |
Krba1 |
C |
T |
6: 48,392,770 (GRCm39) |
R895W |
probably benign |
Het |
Large2 |
G |
T |
2: 92,197,531 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
Mapk1 |
T |
A |
16: 16,801,597 (GRCm39) |
M36K |
possibly damaging |
Het |
Nf1 |
A |
G |
11: 79,275,013 (GRCm39) |
T25A |
probably benign |
Het |
Nrxn3 |
G |
A |
12: 90,171,524 (GRCm39) |
V1316I |
possibly damaging |
Het |
Pik3r4 |
G |
A |
9: 105,562,321 (GRCm39) |
|
probably benign |
Het |
Plekhh1 |
G |
T |
12: 79,101,679 (GRCm39) |
A250S |
probably benign |
Het |
Polr3g |
G |
A |
13: 81,830,238 (GRCm39) |
T145M |
possibly damaging |
Het |
Prss32 |
A |
G |
17: 24,075,085 (GRCm39) |
D145G |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,287,667 (GRCm39) |
K162R |
probably benign |
Het |
Spag7 |
A |
G |
11: 70,554,933 (GRCm39) |
|
probably benign |
Het |
Spata2l |
T |
A |
8: 123,960,914 (GRCm39) |
Q125L |
probably benign |
Het |
Tlr9 |
G |
T |
9: 106,103,004 (GRCm39) |
C765F |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,850,890 (GRCm39) |
I773N |
probably damaging |
Het |
Vcan |
T |
G |
13: 89,873,507 (GRCm39) |
T116P |
probably damaging |
Het |
Vmn2r22 |
C |
T |
6: 123,627,379 (GRCm39) |
|
probably null |
Het |
Yme1l1 |
T |
C |
2: 23,052,556 (GRCm39) |
I70T |
probably benign |
Het |
Zfp938 |
T |
A |
10: 82,063,624 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Hrob |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00485:Hrob
|
APN |
11 |
102,146,783 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
|
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 |
2015-04-16 |