Incidental Mutation 'R4835:Blm'
ID |
373156 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Blm
|
Ensembl Gene |
ENSMUSG00000030528 |
Gene Name |
Bloom syndrome, RecQ like helicase |
Synonyms |
|
MMRRC Submission |
042450-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4835 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80159294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 281
(S281G)
|
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: S278G
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000080062 Gene: ENSMUSG00000030528 AA Change: S278G
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 |
noncoding transcript
Transcript: ENSMUST00000166096
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170315
AA Change: S281G
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127995 Gene: ENSMUSG00000030528 AA Change: S281G
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
98% (96/98) |
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
T |
7: 29,274,326 (GRCm39) |
|
noncoding transcript |
Het |
4933434E20Rik |
A |
G |
3: 89,970,516 (GRCm39) |
N17D |
probably benign |
Het |
A1bg |
T |
C |
15: 60,792,100 (GRCm39) |
D176G |
probably benign |
Het |
Abcg5 |
A |
T |
17: 84,966,076 (GRCm39) |
M428K |
possibly damaging |
Het |
Adam1a |
A |
T |
5: 121,657,752 (GRCm39) |
C514S |
probably damaging |
Het |
Angptl3 |
A |
G |
4: 98,925,649 (GRCm39) |
Q325R |
probably benign |
Het |
Ankrd26 |
C |
T |
6: 118,525,811 (GRCm39) |
W378* |
probably null |
Het |
Apob |
T |
C |
12: 8,065,391 (GRCm39) |
V4087A |
possibly damaging |
Het |
Auts2 |
A |
G |
5: 131,494,931 (GRCm39) |
I117T |
probably damaging |
Het |
AW146154 |
T |
A |
7: 41,129,892 (GRCm39) |
E408V |
probably damaging |
Het |
Bicd1 |
A |
T |
6: 149,385,588 (GRCm39) |
N107I |
probably benign |
Het |
Btaf1 |
T |
A |
19: 36,979,858 (GRCm39) |
D1542E |
probably benign |
Het |
C2cd2l |
A |
G |
9: 44,226,442 (GRCm39) |
|
probably null |
Het |
Capn8 |
C |
A |
1: 182,432,116 (GRCm39) |
N362K |
probably damaging |
Het |
Ccdc14 |
T |
G |
16: 34,525,408 (GRCm39) |
S186A |
probably damaging |
Het |
Cdca4 |
A |
G |
12: 112,785,167 (GRCm39) |
L187P |
probably damaging |
Het |
Chil6 |
T |
A |
3: 106,313,290 (GRCm39) |
K20* |
probably null |
Het |
Cmss1 |
A |
T |
16: 57,136,545 (GRCm39) |
L109* |
probably null |
Het |
Cmtm6 |
G |
T |
9: 114,560,410 (GRCm39) |
W36L |
probably benign |
Het |
Cnksr3 |
T |
G |
10: 7,110,757 (GRCm39) |
I35L |
possibly damaging |
Het |
Col4a2 |
G |
T |
8: 11,473,570 (GRCm39) |
G534* |
probably null |
Het |
Col5a1 |
T |
G |
2: 27,915,656 (GRCm39) |
V180G |
probably damaging |
Het |
Ctnna3 |
T |
C |
10: 63,417,723 (GRCm39) |
F154L |
probably benign |
Het |
Fabp7 |
G |
A |
10: 57,661,676 (GRCm39) |
V50M |
possibly damaging |
Het |
Fam170a |
T |
A |
18: 50,415,050 (GRCm39) |
V232D |
probably damaging |
Het |
Fam186a |
T |
G |
15: 99,843,689 (GRCm39) |
T852P |
unknown |
Het |
Fam20a |
T |
C |
11: 109,564,389 (GRCm39) |
I455V |
probably benign |
Het |
Fbxl6 |
C |
T |
15: 76,421,004 (GRCm39) |
V324M |
probably damaging |
Het |
Galnt18 |
T |
C |
7: 111,378,730 (GRCm39) |
T9A |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,711,769 (GRCm39) |
M191K |
possibly damaging |
Het |
Gpld1 |
A |
G |
13: 25,166,699 (GRCm39) |
T650A |
probably benign |
Het |
Gprc5d |
A |
G |
6: 135,093,515 (GRCm39) |
F131L |
probably benign |
Het |
H2az2 |
C |
T |
11: 6,389,437 (GRCm39) |
G7E |
unknown |
Het |
Haus4 |
A |
T |
14: 54,783,292 (GRCm39) |
|
probably null |
Het |
Helq |
A |
G |
5: 100,922,029 (GRCm39) |
I725T |
possibly damaging |
Het |
Igsf23 |
T |
A |
7: 19,675,755 (GRCm39) |
D117V |
possibly damaging |
Het |
Kiz |
A |
T |
2: 146,784,008 (GRCm39) |
S514C |
probably damaging |
Het |
Klhl6 |
A |
T |
16: 19,775,783 (GRCm39) |
N258K |
probably benign |
Het |
Krt72 |
G |
C |
15: 101,689,508 (GRCm39) |
|
probably null |
Het |
Large1 |
A |
T |
8: 73,774,975 (GRCm39) |
I245N |
probably damaging |
Het |
Lrrc31 |
T |
C |
3: 30,733,306 (GRCm39) |
I469M |
probably damaging |
Het |
Lypd4 |
T |
A |
7: 24,566,121 (GRCm39) |
I68F |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,650,408 (GRCm39) |
S442P |
probably damaging |
Het |
Mmp20 |
T |
A |
9: 7,645,300 (GRCm39) |
H283Q |
probably benign |
Het |
Mrps5 |
G |
A |
2: 127,445,627 (GRCm39) |
V385M |
possibly damaging |
Het |
Ms4a15 |
T |
C |
19: 10,956,590 (GRCm39) |
K241E |
possibly damaging |
Het |
Myt1 |
A |
G |
2: 181,439,255 (GRCm39) |
E259G |
probably damaging |
Het |
Myt1l |
C |
A |
12: 29,945,304 (GRCm39) |
T1023K |
unknown |
Het |
Ncapd3 |
T |
C |
9: 26,997,342 (GRCm39) |
L1221P |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,249,053 (GRCm39) |
V1417A |
possibly damaging |
Het |
Nmnat1 |
A |
G |
4: 149,557,802 (GRCm39) |
V80A |
possibly damaging |
Het |
Nwd2 |
A |
G |
5: 63,965,189 (GRCm39) |
E1591G |
probably benign |
Het |
Or10ac1 |
A |
G |
6: 42,515,770 (GRCm39) |
F62S |
probably damaging |
Het |
Or8j3b |
A |
G |
2: 86,204,853 (GRCm39) |
L301S |
possibly damaging |
Het |
Osbpl1a |
A |
T |
18: 12,901,593 (GRCm39) |
|
probably null |
Het |
Papln |
T |
C |
12: 83,821,194 (GRCm39) |
I204T |
probably damaging |
Het |
Phf1 |
A |
G |
17: 27,153,652 (GRCm39) |
T97A |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,934,442 (GRCm39) |
D890G |
probably damaging |
Het |
Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Rbp2 |
G |
A |
9: 98,389,876 (GRCm39) |
C96Y |
probably damaging |
Het |
Rgmb |
A |
T |
17: 16,027,624 (GRCm39) |
M365K |
possibly damaging |
Het |
Ric1 |
A |
G |
19: 29,572,936 (GRCm39) |
N792S |
possibly damaging |
Het |
Ruvbl1 |
T |
C |
6: 88,474,211 (GRCm39) |
Y405H |
possibly damaging |
Het |
Scaf4 |
A |
G |
16: 90,047,195 (GRCm39) |
M394T |
unknown |
Het |
Siglech |
T |
A |
7: 55,418,177 (GRCm39) |
C48* |
probably null |
Het |
Skic2 |
A |
G |
17: 35,061,897 (GRCm39) |
V695A |
possibly damaging |
Het |
Slc2a5 |
A |
G |
4: 150,224,462 (GRCm39) |
T320A |
probably benign |
Het |
Slc6a7 |
T |
C |
18: 61,135,277 (GRCm39) |
Y417C |
probably benign |
Het |
Sox21 |
A |
G |
14: 118,472,336 (GRCm39) |
C238R |
possibly damaging |
Het |
Tbata |
A |
T |
10: 61,019,132 (GRCm39) |
K109N |
probably damaging |
Het |
Tecpr2 |
T |
G |
12: 110,921,164 (GRCm39) |
S1246A |
probably benign |
Het |
Tekt3 |
A |
G |
11: 62,972,085 (GRCm39) |
D247G |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,766,271 (GRCm39) |
|
probably null |
Het |
Thada |
A |
T |
17: 84,748,532 (GRCm39) |
|
probably null |
Het |
Tpcn2 |
C |
T |
7: 144,826,088 (GRCm39) |
G204R |
probably damaging |
Het |
Tpm2 |
T |
C |
4: 43,519,220 (GRCm39) |
|
probably null |
Het |
Trbv24 |
T |
C |
6: 41,195,026 (GRCm39) |
|
probably benign |
Het |
Tyw1 |
A |
G |
5: 130,305,899 (GRCm39) |
R341G |
probably benign |
Het |
Vmn1r183 |
T |
G |
7: 23,754,564 (GRCm39) |
N122K |
probably benign |
Het |
Vmn2r61 |
T |
A |
7: 41,916,459 (GRCm39) |
H357Q |
possibly damaging |
Het |
Vps13b |
C |
T |
15: 35,869,518 (GRCm39) |
T2674I |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,910,439 (GRCm39) |
L3401P |
probably benign |
Het |
Vps16 |
T |
G |
2: 130,280,220 (GRCm39) |
|
probably benign |
Het |
Vrtn |
T |
A |
12: 84,696,468 (GRCm39) |
I406N |
probably damaging |
Het |
Vwa8 |
A |
T |
14: 79,172,053 (GRCm39) |
Y278F |
probably benign |
Het |
Washc4 |
A |
T |
10: 83,415,376 (GRCm39) |
I789F |
possibly damaging |
Het |
Zbtb20 |
C |
A |
16: 43,438,761 (GRCm39) |
T627K |
probably damaging |
Het |
Zfyve16 |
A |
T |
13: 92,658,693 (GRCm39) |
I406K |
probably benign |
Het |
Zfyve9 |
A |
C |
4: 108,575,195 (GRCm39) |
S629A |
possibly damaging |
Het |
Zpld1 |
A |
T |
16: 55,068,618 (GRCm39) |
N164K |
probably 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 |
|
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 |
|
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'- GGCTGAGATTTGGATCTGCC -3'
(R):5'- CTTTGTGAAGAAATCAGCCAACAC -3'
Sequencing Primer
(F):5'- TGTCACTTGGAAGACCATGC -3'
(R):5'- CTAACCTGCACAAGATTCCCATAGG -3'
|
Posted On |
2016-03-01 |