Incidental Mutation 'R5774:Hrob'
| ID |
445574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hrob
|
| Ensembl Gene |
ENSMUSG00000034773 |
| Gene Name |
homologous recombination factor with OB-fold |
| Synonyms |
BC030867 |
| MMRRC Submission |
043373-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.456)
|
| Stock # |
R5774 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102139708-102156013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102146495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 257
(I257N)
|
| 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: I257N
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: I257N
| 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: I257N
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: I257N
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,581,668 (GRCm39) |
L62M |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,574,285 (GRCm39) |
T949I |
probably damaging |
Het |
| Adam4 |
C |
T |
12: 81,467,460 (GRCm39) |
S387N |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,748,407 (GRCm39) |
S1327G |
probably damaging |
Het |
| Arhgap1 |
A |
G |
2: 91,484,453 (GRCm39) |
T12A |
possibly damaging |
Het |
| Arhgap28 |
A |
G |
17: 68,188,487 (GRCm39) |
S228P |
possibly damaging |
Het |
| Atp6v1b2 |
A |
T |
8: 69,554,613 (GRCm39) |
D106V |
probably damaging |
Het |
| Atp9b |
T |
G |
18: 80,977,147 (GRCm39) |
D3A |
probably damaging |
Het |
| Bptf |
A |
G |
11: 107,001,963 (GRCm39) |
F383S |
probably damaging |
Het |
| Cdh24 |
T |
C |
14: 54,876,514 (GRCm39) |
T104A |
probably damaging |
Het |
| Cep55 |
A |
G |
19: 38,051,103 (GRCm39) |
E171G |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,052,873 (GRCm39) |
M1126K |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,716,184 (GRCm39) |
I59N |
probably damaging |
Het |
| Ddx52 |
A |
G |
11: 83,836,960 (GRCm39) |
I150M |
probably damaging |
Het |
| Dennd6a |
T |
C |
14: 26,300,974 (GRCm39) |
V62A |
probably benign |
Het |
| Dpep1 |
C |
A |
8: 123,926,721 (GRCm39) |
D211E |
probably damaging |
Het |
| Gm1527 |
T |
C |
3: 28,972,239 (GRCm39) |
V452A |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,299,147 (GRCm39) |
V2831A |
possibly damaging |
Het |
| Hydin |
G |
T |
8: 111,298,547 (GRCm39) |
E3722* |
probably null |
Het |
| Il17a |
A |
G |
1: 20,803,997 (GRCm39) |
S131G |
probably benign |
Het |
| Ing3 |
C |
T |
6: 21,967,688 (GRCm39) |
P119S |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
| Lca5l |
G |
T |
16: 95,977,261 (GRCm39) |
Q177K |
probably benign |
Het |
| Lrrc61 |
C |
T |
6: 48,545,133 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,018,106 (GRCm39) |
Y188C |
probably damaging |
Het |
| Mdk |
T |
C |
2: 91,761,569 (GRCm39) |
E36G |
probably damaging |
Het |
| Mmp12 |
T |
C |
9: 7,354,823 (GRCm39) |
I272T |
possibly damaging |
Het |
| Myh4 |
A |
T |
11: 67,144,034 (GRCm39) |
K1135* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,191,060 (GRCm39) |
Y96N |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,384,351 (GRCm39) |
V39E |
possibly damaging |
Het |
| Pank4 |
G |
A |
4: 155,065,119 (GRCm39) |
G806D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,780 (GRCm39) |
Y396C |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,738 (GRCm39) |
I472N |
probably damaging |
Het |
| Sema3a |
T |
A |
5: 13,573,131 (GRCm39) |
W220R |
probably damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,124 (GRCm39) |
V309A |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,721,981 (GRCm39) |
M394V |
probably damaging |
Het |
| Specc1l |
G |
A |
10: 75,081,234 (GRCm39) |
R210H |
probably damaging |
Het |
| Spocd1 |
T |
A |
4: 129,845,579 (GRCm39) |
S480T |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 119,880,939 (GRCm39) |
|
noncoding transcript |
Het |
| Srrm2 |
A |
G |
17: 24,037,249 (GRCm39) |
|
probably benign |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,698 (GRCm39) |
K779E |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,220,294 (GRCm39) |
F2344I |
probably damaging |
Het |
| Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
| Ube4a |
G |
A |
9: 44,864,395 (GRCm39) |
P66L |
probably damaging |
Het |
| Utp6 |
A |
T |
11: 79,844,424 (GRCm39) |
F200L |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,176 (GRCm39) |
H410Q |
probably damaging |
Het |
| Vps33b |
C |
T |
7: 79,935,088 (GRCm39) |
H344Y |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,552,772 (GRCm39) |
R1145* |
probably null |
Het |
| Zbed4 |
T |
A |
15: 88,665,852 (GRCm39) |
F640Y |
possibly damaging |
Het |
| Zfp618 |
C |
T |
4: 63,050,799 (GRCm39) |
R527C |
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 |
|
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 |
|
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'- TGAGTGGATCGTTACGGAAG -3'
(R):5'- TGTCTGAAGAGCTGGCTGAG -3'
Sequencing Primer
(F):5'- CGTTACGGAAGGAGCCTATGGTC -3'
(R):5'- TCTGAAGAGCTGGCTGAGTAACTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation