Incidental Mutation 'IGL01645:Hrob'
ID |
102607 |
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: 0.456)
|
Stock # |
IGL01645
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
102139708-102156013 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102146012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 96
(L96P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100392]
[ENSMUST00000133930]
|
AlphaFold |
Q32P12 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100392
AA Change: L96P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097961 Gene: ENSMUSG00000034773 AA Change: L96P
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 damaging
Transcript: ENSMUST00000133930
AA Change: L96P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137686 Gene: ENSMUSG00000034773 AA Change: L96P
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
C |
T |
7: 45,764,477 (GRCm39) |
C1156Y |
possibly damaging |
Het |
Armh4 |
T |
C |
14: 50,011,011 (GRCm39) |
E232G |
probably damaging |
Het |
Atp8b1 |
G |
A |
18: 64,679,184 (GRCm39) |
H766Y |
probably benign |
Het |
Cacna2d1 |
C |
A |
5: 16,217,389 (GRCm39) |
|
probably null |
Het |
Card11 |
T |
A |
5: 140,863,778 (GRCm39) |
T987S |
probably benign |
Het |
Dennd2b |
T |
A |
7: 109,126,841 (GRCm39) |
K540* |
probably null |
Het |
Dmxl2 |
A |
T |
9: 54,286,017 (GRCm39) |
Y2723N |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 118,150,733 (GRCm39) |
I342F |
possibly damaging |
Het |
Dnajc10 |
A |
G |
2: 80,170,871 (GRCm39) |
H454R |
possibly damaging |
Het |
Dpy19l3 |
T |
C |
7: 35,394,763 (GRCm39) |
T592A |
probably benign |
Het |
Eea1 |
T |
A |
10: 95,825,451 (GRCm39) |
S49T |
probably damaging |
Het |
Esd |
T |
A |
14: 74,987,159 (GRCm39) |
N294K |
probably benign |
Het |
Fmo3 |
A |
G |
1: 162,791,575 (GRCm39) |
V234A |
possibly damaging |
Het |
Folh1 |
A |
G |
7: 86,391,435 (GRCm39) |
F420L |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,026,389 (GRCm39) |
N301S |
probably damaging |
Het |
Gm5422 |
A |
T |
10: 31,126,069 (GRCm39) |
|
noncoding transcript |
Het |
Gorab |
A |
T |
1: 163,214,000 (GRCm39) |
L310Q |
possibly damaging |
Het |
Gsdme |
A |
G |
6: 50,228,316 (GRCm39) |
Y51H |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,450,560 (GRCm39) |
I1964T |
possibly damaging |
Het |
Lmbr1 |
A |
G |
5: 29,440,053 (GRCm39) |
L410P |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,395,090 (GRCm39) |
R112G |
probably benign |
Het |
Mrgpra6 |
T |
C |
7: 46,835,681 (GRCm39) |
T247A |
probably benign |
Het |
Mroh4 |
A |
G |
15: 74,483,207 (GRCm39) |
|
probably benign |
Het |
Mycbpap |
T |
C |
11: 94,394,293 (GRCm39) |
|
probably null |
Het |
Myoz2 |
T |
A |
3: 122,827,881 (GRCm39) |
K12N |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,268,491 (GRCm39) |
S343G |
probably benign |
Het |
Or1d2 |
T |
C |
11: 74,256,359 (GRCm39) |
I288T |
possibly damaging |
Het |
P3h1 |
T |
G |
4: 119,093,980 (GRCm39) |
F212V |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,614,656 (GRCm39) |
D265G |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,361,934 (GRCm39) |
T992I |
possibly damaging |
Het |
Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
Pth2 |
T |
A |
7: 44,830,764 (GRCm39) |
L29Q |
possibly damaging |
Het |
Rab1b |
A |
C |
19: 5,154,962 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
A |
T |
9: 96,464,834 (GRCm39) |
C190* |
probably null |
Het |
Scn9a |
T |
C |
2: 66,317,986 (GRCm39) |
K1501E |
possibly damaging |
Het |
Selenoi |
A |
G |
5: 30,462,821 (GRCm39) |
|
probably benign |
Het |
Slc11a2 |
T |
C |
15: 100,286,999 (GRCm39) |
N558S |
probably benign |
Het |
Sox10 |
T |
C |
15: 79,040,539 (GRCm39) |
I173V |
probably benign |
Het |
Sra1 |
A |
C |
18: 36,804,526 (GRCm39) |
F476C |
probably damaging |
Het |
Tmem119 |
T |
A |
5: 113,933,409 (GRCm39) |
K131* |
probably null |
Het |
Trim12c |
T |
A |
7: 103,994,261 (GRCm39) |
K198* |
probably null |
Het |
Ttn |
A |
G |
2: 76,681,904 (GRCm39) |
|
probably benign |
Het |
Unc119b |
C |
T |
5: 115,265,371 (GRCm39) |
V154I |
probably benign |
Het |
Usp47 |
T |
A |
7: 111,654,069 (GRCm39) |
S108R |
probably damaging |
Het |
Vmn1r15 |
T |
A |
6: 57,235,547 (GRCm39) |
C138* |
probably null |
Het |
Vmn1r191 |
T |
C |
13: 22,363,614 (GRCm39) |
I47V |
probably benign |
Het |
Wnt3 |
C |
T |
11: 103,703,204 (GRCm39) |
A229V |
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 |
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 |
2014-01-21 |