Incidental Mutation 'R0133:Blm'
| ID |
21747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
038418-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0133 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80152115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 611
(I611F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
| AlphaFold |
O88700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081314
AA Change: I608F
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: I608F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
Pfam:BDHCT
|
376 |
416 |
5.5e-27 |
PFAM |
|
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
|
DEXDc
|
672 |
873 |
1.59e-29 |
SMART |
|
HELICc
|
910 |
992 |
1.29e-24 |
SMART |
|
RQC
|
1084 |
1198 |
1.43e-15 |
SMART |
|
HRDC
|
1217 |
1297 |
9.4e-20 |
SMART |
|
low complexity region
|
1357 |
1371 |
N/A |
INTRINSIC |
|
low complexity region
|
1378 |
1392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170315
AA Change: I611F
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: I611F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BLM_N
|
4 |
375 |
1.1e-161 |
PFAM |
|
Pfam:BDHCT
|
380 |
419 |
6.4e-25 |
PFAM |
|
Pfam:BDHCT_assoc
|
433 |
658 |
8.8e-108 |
PFAM |
|
DEXDc
|
675 |
876 |
1.59e-29 |
SMART |
|
HELICc
|
913 |
995 |
1.29e-24 |
SMART |
|
Pfam:RecQ_Zn_bind
|
1006 |
1078 |
1.5e-19 |
PFAM |
|
RQC
|
1087 |
1201 |
1.43e-15 |
SMART |
|
HRDC
|
1220 |
1300 |
9.4e-20 |
SMART |
|
low complexity region
|
1360 |
1374 |
N/A |
INTRINSIC |
|
low complexity region
|
1381 |
1395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205263
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.4%
|
| Validation Efficiency |
99% (83/84) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd4 |
T |
C |
11: 102,996,214 (GRCm39) |
S172P |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,254 (GRCm39) |
K1223* |
probably null |
Het |
| Akna |
G |
A |
4: 63,297,598 (GRCm39) |
Q819* |
probably null |
Het |
| Ankrd2 |
T |
C |
19: 42,032,510 (GRCm39) |
V257A |
probably benign |
Het |
| Arap1 |
T |
A |
7: 101,035,436 (GRCm39) |
D30E |
probably damaging |
Het |
| Atp6v0d2 |
T |
C |
4: 19,910,578 (GRCm39) |
|
probably benign |
Het |
| Ccng2 |
A |
G |
5: 93,421,240 (GRCm39) |
K250R |
probably benign |
Het |
| Cdhr3 |
A |
G |
12: 33,142,751 (GRCm39) |
L8P |
possibly damaging |
Het |
| Csf2rb |
T |
G |
15: 78,223,204 (GRCm39) |
|
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,163,223 (GRCm39) |
I204V |
probably benign |
Het |
| Cxcl16 |
T |
A |
11: 70,349,596 (GRCm39) |
E76D |
possibly damaging |
Het |
| Dhx15 |
T |
C |
5: 52,311,414 (GRCm39) |
I689V |
possibly damaging |
Het |
| Dlk2 |
T |
C |
17: 46,609,868 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,311,835 (GRCm39) |
M4452K |
probably damaging |
Het |
| Dok4 |
T |
A |
8: 95,591,991 (GRCm39) |
I280F |
probably benign |
Het |
| Dsc3 |
T |
C |
18: 20,104,639 (GRCm39) |
T563A |
probably damaging |
Het |
| Dsg1b |
C |
T |
18: 20,537,935 (GRCm39) |
A617V |
probably damaging |
Het |
| Eps8l2 |
C |
T |
7: 140,942,120 (GRCm39) |
P721S |
unknown |
Het |
| Evx2 |
T |
C |
2: 74,489,426 (GRCm39) |
D112G |
possibly damaging |
Het |
| Fam124a |
C |
A |
14: 62,843,782 (GRCm39) |
T430K |
possibly damaging |
Het |
| Fbrs |
C |
T |
7: 127,088,782 (GRCm39) |
|
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,103,647 (GRCm39) |
T22A |
probably benign |
Het |
| Fmo5 |
T |
G |
3: 97,552,952 (GRCm39) |
V300G |
probably damaging |
Het |
| Gadl1 |
T |
C |
9: 115,770,411 (GRCm39) |
S75P |
probably benign |
Het |
| Galnt2 |
T |
G |
8: 125,065,277 (GRCm39) |
I469S |
probably benign |
Het |
| Gga3 |
T |
A |
11: 115,479,805 (GRCm39) |
|
probably benign |
Het |
| Gm10647 |
T |
C |
9: 66,705,771 (GRCm39) |
|
probably benign |
Het |
| Gm14180 |
C |
A |
11: 99,625,043 (GRCm39) |
C25F |
unknown |
Het |
| Grid2 |
A |
T |
6: 64,297,116 (GRCm39) |
D493V |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,469,754 (GRCm39) |
Y182F |
possibly damaging |
Het |
| Hecw2 |
A |
C |
1: 53,869,899 (GRCm39) |
L1443R |
probably damaging |
Het |
| Igkv4-62 |
A |
G |
6: 69,377,053 (GRCm39) |
I32T |
probably benign |
Het |
| Ikzf1 |
T |
A |
11: 11,691,015 (GRCm39) |
|
probably null |
Het |
| Il27ra |
G |
A |
8: 84,760,571 (GRCm39) |
|
probably benign |
Het |
| Jmjd1c |
C |
A |
10: 67,076,587 (GRCm39) |
A2137D |
probably benign |
Het |
| Kcnc2 |
T |
C |
10: 112,294,502 (GRCm39) |
C579R |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,112,498 (GRCm39) |
T862A |
probably damaging |
Het |
| Kif17 |
T |
C |
4: 138,005,556 (GRCm39) |
S182P |
possibly damaging |
Het |
| Klf5 |
A |
T |
14: 99,539,318 (GRCm39) |
T164S |
probably benign |
Het |
| Ksr2 |
T |
G |
5: 117,693,359 (GRCm39) |
V269G |
possibly damaging |
Het |
| Mcm5 |
T |
A |
8: 75,847,539 (GRCm39) |
D445E |
probably damaging |
Het |
| Mlkl |
T |
C |
8: 112,054,580 (GRCm39) |
I186V |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,591,978 (GRCm39) |
S3017C |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,368,676 (GRCm39) |
F479L |
possibly damaging |
Het |
| Myo6 |
A |
G |
9: 80,181,257 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,354,782 (GRCm39) |
V393E |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,788,859 (GRCm39) |
|
probably null |
Het |
| Odf2l |
A |
G |
3: 144,854,302 (GRCm39) |
N383S |
probably damaging |
Het |
| Olfml3 |
A |
C |
3: 103,644,342 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
T |
A |
19: 13,727,352 (GRCm39) |
I294N |
probably damaging |
Het |
| Or7g17 |
G |
A |
9: 18,767,925 (GRCm39) |
M1I |
probably null |
Het |
| Or8g18 |
A |
G |
9: 39,149,307 (GRCm39) |
Y141H |
probably benign |
Het |
| Or8j3b |
A |
T |
2: 86,205,159 (GRCm39) |
V199E |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,174,009 (GRCm39) |
D1195E |
probably benign |
Het |
| Ppp1r1a |
T |
A |
15: 103,446,247 (GRCm39) |
H20L |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,746,085 (GRCm39) |
|
probably null |
Het |
| Prom2 |
A |
G |
2: 127,380,258 (GRCm39) |
|
probably benign |
Het |
| Rasal3 |
T |
C |
17: 32,622,357 (GRCm39) |
M1V |
probably null |
Het |
| Rhoj |
A |
G |
12: 75,441,194 (GRCm39) |
|
probably null |
Het |
| Rnf40 |
C |
T |
7: 127,196,032 (GRCm39) |
|
probably null |
Het |
| Slc15a3 |
T |
C |
19: 10,820,614 (GRCm39) |
L77P |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,738,522 (GRCm39) |
V586A |
possibly damaging |
Het |
| Slc30a10 |
T |
A |
1: 185,187,370 (GRCm39) |
L37Q |
probably damaging |
Het |
| Slc43a2 |
T |
A |
11: 75,454,403 (GRCm39) |
M316K |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,672,010 (GRCm39) |
F844L |
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,339,912 (GRCm39) |
E350G |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,278,524 (GRCm39) |
T995S |
probably benign |
Het |
| Tmc3 |
T |
G |
7: 83,261,681 (GRCm39) |
N586K |
probably damaging |
Het |
| Tmem107 |
T |
A |
11: 68,963,239 (GRCm39) |
|
probably benign |
Het |
| Tmem247 |
A |
G |
17: 87,225,989 (GRCm39) |
Q51R |
probably benign |
Het |
| Tmpo |
G |
T |
10: 90,999,900 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,996,815 (GRCm39) |
T1894S |
probably damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,347,468 (GRCm39) |
H3236Q |
probably benign |
Het |
| Zfand4 |
G |
A |
6: 116,291,700 (GRCm39) |
D545N |
probably benign |
Het |
| Zkscan3 |
G |
T |
13: 21,578,944 (GRCm39) |
P155T |
possibly damaging |
Het |
|
| Other mutations in Blm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Blm
|
APN |
7 |
80,123,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01658:Blm
|
APN |
7 |
80,113,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02048:Blm
|
APN |
7 |
80,152,709 (GRCm39) |
splice site |
probably benign |
|
|
IGL02060:Blm
|
APN |
7 |
80,164,328 (GRCm39) |
splice site |
probably benign |
|
|
IGL02063:Blm
|
APN |
7 |
80,159,167 (GRCm39) |
nonsense |
probably null |
|
|
IGL02102:Blm
|
APN |
7 |
80,119,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Blm
|
APN |
7 |
80,145,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Blm
|
APN |
7 |
80,153,125 (GRCm39) |
splice site |
probably null |
|
|
IGL02566:Blm
|
APN |
7 |
80,123,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03387:Blm
|
APN |
7 |
80,143,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Blm
|
UTSW |
7 |
80,113,521 (GRCm39) |
frame shift |
probably null |
|
|
FR4340:Blm
|
UTSW |
7 |
80,162,658 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Blm
|
UTSW |
7 |
80,162,656 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Blm
|
UTSW |
7 |
80,113,517 (GRCm39) |
frame shift |
probably null |
|
|
FR4589:Blm
|
UTSW |
7 |
80,113,518 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Blm
|
UTSW |
7 |
80,113,522 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Blm
|
UTSW |
7 |
80,113,519 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
|
R0194:Blm
|
UTSW |
7 |
80,114,694 (GRCm39) |
unclassified |
probably benign |
|
|
R0526:Blm
|
UTSW |
7 |
80,155,641 (GRCm39) |
nonsense |
probably null |
|
|
R0673:Blm
|
UTSW |
7 |
80,149,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0972:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
|
R0980:Blm
|
UTSW |
7 |
80,149,706 (GRCm39) |
splice site |
probably null |
|
|
R1120:Blm
|
UTSW |
7 |
80,131,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1301:Blm
|
UTSW |
7 |
80,105,165 (GRCm39) |
nonsense |
probably null |
|
|
R1769:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
|
R1866:Blm
|
UTSW |
7 |
80,143,862 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1874:Blm
|
UTSW |
7 |
80,147,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Blm
|
UTSW |
7 |
80,162,934 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1991:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
|
R2013:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2014:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2015:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2016:Blm
|
UTSW |
7 |
80,155,674 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2103:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
|
R2161:Blm
|
UTSW |
7 |
80,131,118 (GRCm39) |
splice site |
probably null |
|
|
R2215:Blm
|
UTSW |
7 |
80,149,595 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3689:Blm
|
UTSW |
7 |
80,162,827 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4049:Blm
|
UTSW |
7 |
80,152,610 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4155:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
|
R4695:Blm
|
UTSW |
7 |
80,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Blm
|
UTSW |
7 |
80,113,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Blm
|
UTSW |
7 |
80,116,574 (GRCm39) |
missense |
probably benign |
|
|
R4835:Blm
|
UTSW |
7 |
80,159,294 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4994:Blm
|
UTSW |
7 |
80,108,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5039:Blm
|
UTSW |
7 |
80,155,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5330:Blm
|
UTSW |
7 |
80,108,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5375:Blm
|
UTSW |
7 |
80,162,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5408:Blm
|
UTSW |
7 |
80,152,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5574:Blm
|
UTSW |
7 |
80,149,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5606:Blm
|
UTSW |
7 |
80,110,580 (GRCm39) |
splice site |
probably null |
|
|
R5702:Blm
|
UTSW |
7 |
80,108,675 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5809:Blm
|
UTSW |
7 |
80,114,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Blm
|
UTSW |
7 |
80,163,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Blm
|
UTSW |
7 |
80,162,733 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6163:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
|
R6254:Blm
|
UTSW |
7 |
80,130,090 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6266:Blm
|
UTSW |
7 |
80,149,688 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6364:Blm
|
UTSW |
7 |
80,144,274 (GRCm39) |
nonsense |
probably null |
|
|
R6446:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
|
R6502:Blm
|
UTSW |
7 |
80,131,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6700:Blm
|
UTSW |
7 |
80,113,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7002:Blm
|
UTSW |
7 |
80,119,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7105:Blm
|
UTSW |
7 |
80,149,516 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7320:Blm
|
UTSW |
7 |
80,105,102 (GRCm39) |
nonsense |
probably null |
|
|
R7465:Blm
|
UTSW |
7 |
80,162,863 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7561:Blm
|
UTSW |
7 |
80,152,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8500:Blm
|
UTSW |
7 |
80,105,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Blm
|
UTSW |
7 |
80,143,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,666 (GRCm39) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,162,679 (GRCm39) |
small insertion |
probably benign |
|
|
R8860:Blm
|
UTSW |
7 |
80,144,276 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8928:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
|
R9089:Blm
|
UTSW |
7 |
80,162,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Blm
|
UTSW |
7 |
80,108,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF001:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,162,651 (GRCm39) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
small insertion |
probably benign |
|
|
RF007:Blm
|
UTSW |
7 |
80,162,681 (GRCm39) |
nonsense |
probably null |
|
|
RF016:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
|
RF018:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
|
RF027:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
frame shift |
probably null |
|
|
RF028:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
nonsense |
probably null |
|
|
RF031:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
nonsense |
probably null |
|
|
RF044:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
|
RF053:Blm
|
UTSW |
7 |
80,162,669 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
nonsense |
probably null |
|
|
X0061:Blm
|
UTSW |
7 |
80,108,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAGGCAATGACTGCTGCTATG -3'
(R):5'- TTCTCACCAGCACCACTGTGAAAG -3'
Sequencing Primer
(F):5'- GCAATGACTGCTGCTATGCTATAC -3'
(R):5'- TCAGAGTAAACAAGCTGCTTCAG -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation