Incidental Mutation 'R2013:Blm'
| ID |
222358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
040022-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2013 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80152147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 600
(E600G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
| AlphaFold |
O88700 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081314
AA Change: E597G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: E597G
| 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 |
probably damaging
Transcript: ENSMUST00000170315
AA Change: E600G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: E600G
| 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 |
0.1709 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
G |
17: 48,347,723 (GRCm39) |
T194P |
possibly damaging |
Het |
| 4921504E06Rik |
T |
A |
2: 19,545,124 (GRCm39) |
M110L |
probably benign |
Het |
| Acad9 |
T |
G |
3: 36,127,737 (GRCm39) |
I113R |
probably damaging |
Het |
| Adam34l |
T |
C |
8: 44,079,442 (GRCm39) |
S261G |
possibly damaging |
Het |
| Adamts6 |
A |
T |
13: 104,450,812 (GRCm39) |
I332F |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,639,727 (GRCm39) |
G678S |
probably benign |
Het |
| Afg3l2 |
C |
T |
18: 67,564,842 (GRCm39) |
V211I |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,991,937 (GRCm39) |
I4407T |
probably damaging |
Het |
| Alpl |
G |
T |
4: 137,482,458 (GRCm39) |
H79N |
probably benign |
Het |
| Apc |
A |
G |
18: 34,448,644 (GRCm39) |
I1813V |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,908 (GRCm39) |
M540T |
probably damaging |
Het |
| Btbd8 |
T |
C |
5: 107,658,655 (GRCm39) |
W1742R |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,522,337 (GRCm38) |
D609V |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,941,983 (GRCm39) |
M174I |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,913,748 (GRCm39) |
L877* |
probably null |
Het |
| Cdk14 |
T |
C |
5: 5,143,047 (GRCm39) |
Y228C |
probably damaging |
Het |
| Dip2c |
C |
T |
13: 9,617,882 (GRCm39) |
Q426* |
probably null |
Het |
| Dsp |
A |
G |
13: 38,375,434 (GRCm39) |
N1073S |
probably damaging |
Het |
| Epyc |
T |
C |
10: 97,511,655 (GRCm39) |
I216T |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,994,041 (GRCm39) |
S300P |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,381,482 (GRCm39) |
T433A |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,243,026 (GRCm39) |
T80A |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,352,465 (GRCm39) |
|
probably null |
Het |
| Gaa |
A |
G |
11: 119,175,409 (GRCm39) |
|
probably null |
Het |
| H2-Q4 |
A |
G |
17: 35,599,526 (GRCm39) |
E203G |
probably damaging |
Het |
| Helt |
T |
C |
8: 46,745,355 (GRCm39) |
D214G |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,063,599 (GRCm39) |
V487A |
probably benign |
Het |
| Hmmr |
A |
T |
11: 40,619,259 (GRCm39) |
S74T |
possibly damaging |
Het |
| Hspa9 |
A |
T |
18: 35,079,701 (GRCm39) |
Y243N |
probably damaging |
Het |
| Htt |
T |
G |
5: 35,010,215 (GRCm39) |
L1556R |
probably damaging |
Het |
| Ift80 |
T |
C |
3: 68,898,117 (GRCm39) |
K73E |
possibly damaging |
Het |
| Il6st |
G |
A |
13: 112,635,423 (GRCm39) |
A551T |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,408,951 (GRCm39) |
S1545P |
probably benign |
Het |
| Lef1 |
T |
A |
3: 130,905,236 (GRCm39) |
I39N |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,457,337 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,577,807 (GRCm39) |
D59G |
probably damaging |
Het |
| Maged1 |
T |
C |
X: 93,580,523 (GRCm39) |
Y636C |
possibly damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,453,584 (GRCm39) |
D1195V |
probably damaging |
Het |
| Mob3b |
A |
G |
4: 35,083,922 (GRCm39) |
V89A |
probably benign |
Het |
| Mogs |
C |
T |
6: 83,094,631 (GRCm39) |
R483* |
probably null |
Het |
| Mybphl |
A |
C |
3: 108,282,718 (GRCm39) |
T203P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,385,057 (GRCm39) |
T1720A |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,552,796 (GRCm39) |
F945I |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
| Nes |
A |
G |
3: 87,883,985 (GRCm39) |
Q748R |
possibly damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,387,340 (GRCm39) |
R205W |
probably damaging |
Het |
| Nlrc3 |
A |
C |
16: 3,782,974 (GRCm39) |
L161R |
probably damaging |
Het |
| Npy2r |
T |
A |
3: 82,448,487 (GRCm39) |
D96V |
probably damaging |
Het |
| Or4d11 |
T |
A |
19: 12,013,518 (GRCm39) |
E196V |
probably damaging |
Het |
| Or5w18 |
T |
G |
2: 87,632,847 (GRCm39) |
V38G |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,662,498 (GRCm39) |
C1159Y |
probably damaging |
Het |
| Phf21a |
T |
C |
2: 92,058,828 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
T |
A |
7: 115,950,166 (GRCm39) |
|
probably null |
Het |
| Psg22 |
A |
T |
7: 18,453,560 (GRCm39) |
Y85F |
possibly damaging |
Het |
| Pttg1ip2 |
T |
A |
5: 5,505,964 (GRCm39) |
I106L |
probably benign |
Het |
| Qtrt2 |
A |
G |
16: 43,689,455 (GRCm39) |
I181T |
probably damaging |
Het |
| Sash1 |
A |
T |
10: 8,605,177 (GRCm39) |
V1071D |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,442,802 (GRCm39) |
I1481N |
probably damaging |
Het |
| Slc15a1 |
G |
A |
14: 121,713,399 (GRCm39) |
A376V |
possibly damaging |
Het |
| Slc25a46 |
A |
T |
18: 31,742,778 (GRCm39) |
H29Q |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,459,832 (GRCm39) |
C1354R |
probably damaging |
Het |
| Ssu2 |
C |
T |
6: 112,360,902 (GRCm39) |
E52K |
possibly damaging |
Het |
| Taar7e |
A |
T |
10: 23,913,732 (GRCm39) |
H74L |
possibly damaging |
Het |
| Tcte1 |
A |
T |
17: 45,852,237 (GRCm39) |
N490I |
probably benign |
Het |
| Tent4b |
T |
A |
8: 88,972,223 (GRCm39) |
|
probably null |
Het |
| Tpst2 |
G |
T |
5: 112,455,880 (GRCm39) |
G140C |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,803,981 (GRCm39) |
F1634I |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,761,600 (GRCm39) |
F1017L |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,766,948 (GRCm39) |
V253A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,897,006 (GRCm39) |
T118A |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,369,109 (GRCm39) |
T155A |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,954 (GRCm39) |
M332K |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,269,845 (GRCm39) |
M452K |
probably benign |
Het |
| Vmn2r79 |
T |
G |
7: 86,653,289 (GRCm39) |
L518R |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,607,288 (GRCm39) |
S1074P |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,835,078 (GRCm39) |
S2757P |
probably damaging |
Het |
| Wdr33 |
C |
A |
18: 32,022,029 (GRCm39) |
Q860K |
unknown |
Het |
| Zfp423 |
T |
A |
8: 88,509,025 (GRCm39) |
I440F |
probably benign |
Het |
| Zup1 |
A |
G |
10: 33,805,820 (GRCm39) |
V437A |
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 |
|
|
R0133:Blm
|
UTSW |
7 |
80,152,115 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
|
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'- TGGAAACAATGTAGCGCTCAG -3'
(R):5'- GTAAACAAGCTGCTTCAGGATGG -3'
Sequencing Primer
(F):5'- GACTGCTGCTATGCTATACAAC -3'
(R):5'- CTGCTTCAGGATGGAACGTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation