Incidental Mutation 'R3731:Hrob'
ID |
270997 |
Institutional Source |
Beutler Lab
|
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 # |
R3731 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
102139708-102156013 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102148732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 381
(E381G)
|
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: E381G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097961 Gene: ENSMUSG00000034773 AA Change: E381G
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: E381G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000137686 Gene: ENSMUSG00000034773 AA Change: E381G
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: ENSMUST00000140040
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148867
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152897
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
T |
A |
16: 14,427,485 (GRCm39) |
|
probably null |
Het |
Abcc5 |
A |
T |
16: 20,217,684 (GRCm39) |
Y5* |
probably null |
Het |
Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
Adar |
T |
C |
3: 89,653,962 (GRCm39) |
I325T |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,261,125 (GRCm39) |
S92P |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,061,528 (GRCm39) |
V771E |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,047,708 (GRCm39) |
S492P |
possibly damaging |
Het |
Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
Dennd2d |
T |
G |
3: 106,407,271 (GRCm39) |
F441V |
probably damaging |
Het |
Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
Disp3 |
A |
G |
4: 148,337,284 (GRCm39) |
S844P |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,599,722 (GRCm39) |
K286E |
probably damaging |
Het |
Fam228a |
T |
C |
12: 4,768,671 (GRCm39) |
E203G |
probably benign |
Het |
Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
Ints4 |
A |
G |
7: 97,155,308 (GRCm39) |
Q320R |
probably benign |
Het |
Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
Loxl3 |
T |
C |
6: 83,027,652 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
Mbd6 |
A |
G |
10: 127,121,637 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nepn |
A |
T |
10: 52,280,110 (GRCm39) |
N401Y |
probably damaging |
Het |
Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
Npas3 |
T |
C |
12: 53,401,175 (GRCm39) |
I40T |
probably benign |
Het |
Or1e29 |
T |
C |
11: 73,667,565 (GRCm39) |
E196G |
probably benign |
Het |
Or1j19 |
A |
T |
2: 36,676,578 (GRCm39) |
I14F |
possibly damaging |
Het |
Or2d4 |
T |
A |
7: 106,543,684 (GRCm39) |
N175Y |
probably damaging |
Het |
Or4n4b |
T |
A |
14: 50,535,962 (GRCm39) |
D268V |
probably damaging |
Het |
Or5p73 |
T |
C |
7: 108,064,633 (GRCm39) |
I34T |
possibly damaging |
Het |
Or8g33 |
T |
A |
9: 39,338,365 (GRCm39) |
M1L |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,471,193 (GRCm39) |
Y988C |
probably benign |
Het |
Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
Serpina1d |
T |
A |
12: 103,734,164 (GRCm39) |
N47Y |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Sirpb1c |
T |
C |
3: 15,887,287 (GRCm39) |
K184R |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Upp2 |
T |
C |
2: 58,645,379 (GRCm39) |
S41P |
probably benign |
Het |
Vmn1r10 |
A |
G |
6: 57,090,719 (GRCm39) |
T104A |
probably damaging |
Het |
Wdhd1 |
A |
C |
14: 47,485,349 (GRCm39) |
S838R |
possibly damaging |
Het |
Zer1 |
A |
G |
2: 30,000,923 (GRCm39) |
V166A |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,956,308 (GRCm39) |
N897D |
probably benign |
Het |
Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCTGAGTGAGGCTCTTG -3'
(R):5'- ATGACGTCAGGACATGCCTC -3'
Sequencing Primer
(F):5'- CTCTTGAGACTGCGTTAGAGGC -3'
(R):5'- ACGTCAGGACATGCCTCATTCTC -3'
|
Posted On |
2015-03-18 |