Incidental Mutation 'IGL01769:Hrob'
ID |
278878 |
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 # |
IGL01769
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
T |
A |
7: 130,959,215 (GRCm39) |
M162L |
probably benign |
Het |
Aldh1a1 |
A |
T |
19: 20,620,283 (GRCm39) |
T487S |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,171,030 (GRCm39) |
|
probably benign |
Het |
Cldn10 |
G |
A |
14: 119,111,129 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
G |
A |
6: 102,185,145 (GRCm39) |
T657I |
probably damaging |
Het |
Crb1 |
A |
T |
1: 139,264,806 (GRCm39) |
I204K |
probably damaging |
Het |
Crim1 |
C |
A |
17: 78,620,664 (GRCm39) |
T368K |
probably benign |
Het |
Csad |
C |
A |
15: 102,088,516 (GRCm39) |
V237L |
probably benign |
Het |
Cyp39a1 |
T |
G |
17: 44,060,806 (GRCm39) |
H451Q |
possibly damaging |
Het |
Dclk2 |
T |
C |
3: 86,723,667 (GRCm39) |
E376G |
possibly damaging |
Het |
Dnah10 |
A |
T |
5: 124,842,008 (GRCm39) |
Y1331F |
possibly damaging |
Het |
Dnajc11 |
A |
T |
4: 152,063,759 (GRCm39) |
I452L |
probably damaging |
Het |
Dpf2 |
T |
C |
19: 5,962,810 (GRCm39) |
|
probably benign |
Het |
Elovl2 |
A |
C |
13: 41,340,420 (GRCm39) |
V225G |
probably damaging |
Het |
Fancd2 |
T |
A |
6: 113,522,072 (GRCm39) |
H222Q |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Flt4 |
C |
T |
11: 49,525,998 (GRCm39) |
|
probably benign |
Het |
Foxp2 |
T |
C |
6: 15,409,834 (GRCm39) |
V478A |
possibly damaging |
Het |
H2-Q1 |
G |
A |
17: 35,542,505 (GRCm39) |
V317M |
probably benign |
Het |
Igkv3-5 |
G |
A |
6: 70,640,336 (GRCm39) |
|
probably benign |
Het |
Isg20 |
G |
A |
7: 78,564,129 (GRCm39) |
C12Y |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Nat8f5 |
G |
A |
6: 85,794,859 (GRCm39) |
R34C |
probably benign |
Het |
Or8d2 |
T |
C |
9: 38,759,629 (GRCm39) |
V73A |
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,319,932 (GRCm39) |
S454P |
probably benign |
Het |
Rarb |
T |
A |
14: 16,443,760 (GRCm38) |
E176V |
probably damaging |
Het |
Sema4a |
T |
A |
3: 88,357,063 (GRCm39) |
I303F |
possibly damaging |
Het |
Slc25a24 |
G |
A |
3: 109,056,816 (GRCm39) |
E110K |
probably damaging |
Het |
Slc7a13 |
A |
T |
4: 19,839,527 (GRCm39) |
I377L |
probably benign |
Het |
Smim19 |
T |
C |
8: 22,953,393 (GRCm39) |
|
probably null |
Het |
Tiam2 |
A |
G |
17: 3,477,565 (GRCm39) |
Y596C |
probably damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
Ubxn8 |
G |
A |
8: 34,119,406 (GRCm39) |
|
probably benign |
Het |
Vmn2r108 |
C |
A |
17: 20,691,280 (GRCm39) |
M414I |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,600,377 (GRCm39) |
N467S |
probably damaging |
Het |
Zfp456 |
T |
A |
13: 67,515,272 (GRCm39) |
T145S |
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 |
|
IGL01764: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 |