Incidental Mutation 'R8928:Blm'
| ID |
679680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
068772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8928 (G1)
|
| Quality Score |
107.467 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC to GCCTCCTCCTCCTCCTCCTCCTCCTCC
at 80162652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
| AlphaFold |
O88700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081314
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
| 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
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,867,367 (GRCm39) |
H198Q |
probably damaging |
Het |
| Abcb9 |
T |
C |
5: 124,221,706 (GRCm39) |
T223A |
probably benign |
Het |
| Actc1 |
T |
A |
2: 113,880,881 (GRCm39) |
K115* |
probably null |
Het |
| Angptl2 |
G |
A |
2: 33,132,316 (GRCm39) |
D308N |
probably benign |
Het |
| Arl4d |
A |
C |
11: 101,557,892 (GRCm39) |
Q139H |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,418,125 (GRCm39) |
C2951* |
probably null |
Het |
| Atp23 |
A |
T |
10: 126,723,362 (GRCm39) |
*247R |
probably null |
Het |
| B3gnt7 |
T |
A |
1: 86,232,839 (GRCm39) |
S28R |
probably benign |
Het |
| Bmp7 |
C |
T |
2: 172,721,211 (GRCm39) |
R288H |
probably damaging |
Het |
| Bsdc1 |
G |
T |
4: 129,355,439 (GRCm39) |
|
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,538,060 (GRCm39) |
E88G |
probably damaging |
Het |
| Ccdc73 |
C |
A |
2: 104,822,542 (GRCm39) |
D2E |
|
Het |
| Cdc5l |
C |
A |
17: 45,721,839 (GRCm39) |
R477L |
|
Het |
| Cdh22 |
T |
A |
2: 164,965,504 (GRCm39) |
H529L |
possibly damaging |
Het |
| Chchd3 |
T |
A |
6: 32,780,951 (GRCm39) |
E178D |
probably benign |
Het |
| Ciz1 |
A |
T |
2: 32,257,512 (GRCm39) |
R186* |
probably null |
Het |
| Copa |
T |
A |
1: 171,931,737 (GRCm39) |
H329Q |
probably null |
Het |
| Dcaf7 |
A |
G |
11: 105,942,752 (GRCm39) |
D233G |
probably damaging |
Het |
| Dclk2 |
G |
T |
3: 86,739,048 (GRCm39) |
P317Q |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,107,234 (GRCm39) |
H462Q |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,638,535 (GRCm39) |
N1998S |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,724 (GRCm39) |
L240S |
possibly damaging |
Het |
| Fzd9 |
A |
T |
5: 135,278,589 (GRCm39) |
M432K |
probably damaging |
Het |
| Gm5862 |
T |
A |
5: 26,226,678 (GRCm39) |
I75F |
probably damaging |
Het |
| Gpr45 |
T |
A |
1: 43,072,314 (GRCm39) |
V319D |
probably damaging |
Het |
| H4c11 |
T |
C |
13: 21,919,525 (GRCm39) |
V87A |
possibly damaging |
Het |
| Igfn1 |
T |
A |
1: 135,905,984 (GRCm39) |
R275W |
probably damaging |
Het |
| Inafm1 |
G |
A |
7: 16,006,980 (GRCm39) |
A79V |
unknown |
Het |
| Itfg1 |
C |
T |
8: 86,567,420 (GRCm39) |
|
probably benign |
Het |
| Klhl35 |
T |
G |
7: 99,120,221 (GRCm39) |
I366S |
probably damaging |
Het |
| Lysmd1 |
A |
T |
3: 95,045,831 (GRCm39) |
I223F |
probably damaging |
Het |
| Mrps30 |
A |
G |
13: 118,523,205 (GRCm39) |
L189P |
probably damaging |
Het |
| Ms4a4d |
A |
C |
19: 11,533,574 (GRCm39) |
T152P |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,755,628 (GRCm39) |
I238K |
probably benign |
Het |
| Musk |
T |
C |
4: 58,301,638 (GRCm39) |
I132T |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,079,509 (GRCm39) |
M989L |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,174,081 (GRCm39) |
R172H |
probably benign |
Het |
| Nt5c1a |
C |
T |
4: 123,102,281 (GRCm39) |
T69M |
possibly damaging |
Het |
| Nuak2 |
T |
A |
1: 132,255,916 (GRCm39) |
D196E |
probably damaging |
Het |
| Or52h7 |
A |
T |
7: 104,214,229 (GRCm39) |
H267L |
probably damaging |
Het |
| Or5ap2 |
A |
T |
2: 85,679,918 (GRCm39) |
I41F |
possibly damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,630 (GRCm39) |
T16A |
probably benign |
Het |
| Or8k53 |
T |
C |
2: 86,178,090 (GRCm39) |
T7A |
possibly damaging |
Het |
| Palb2 |
A |
T |
7: 121,723,821 (GRCm39) |
C643S |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,633,249 (GRCm39) |
I706N |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,950,790 (GRCm39) |
R100G |
probably benign |
Het |
| Pip5k1c |
T |
A |
10: 81,128,906 (GRCm39) |
V5E |
possibly damaging |
Het |
| Pira1 |
A |
C |
7: 3,742,358 (GRCm39) |
N56K |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,268,039 (GRCm39) |
V644A |
probably benign |
Het |
| Plk2 |
T |
G |
13: 110,535,750 (GRCm39) |
V524G |
probably damaging |
Het |
| Ppl |
T |
A |
16: 4,905,474 (GRCm39) |
N1607I |
probably benign |
Het |
| Prag1 |
T |
G |
8: 36,614,360 (GRCm39) |
V1304G |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,426,995 (GRCm39) |
V1077M |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,158,248 (GRCm39) |
S14G |
probably benign |
Het |
| Psrc1 |
T |
G |
3: 108,293,973 (GRCm39) |
S263R |
probably damaging |
Het |
| Qrfprl |
C |
A |
6: 65,358,597 (GRCm39) |
S107* |
probably null |
Het |
| Rbp7 |
A |
T |
4: 149,537,958 (GRCm39) |
L36* |
probably null |
Het |
| Rgs12 |
G |
T |
5: 35,123,633 (GRCm39) |
W472L |
possibly damaging |
Het |
| Rrp8 |
C |
A |
7: 105,384,073 (GRCm39) |
C143F |
possibly damaging |
Het |
| Sart1 |
T |
C |
19: 5,438,529 (GRCm39) |
S43G |
probably benign |
Het |
| Setx |
A |
G |
2: 29,016,971 (GRCm39) |
T25A |
possibly damaging |
Het |
| Skint5 |
G |
A |
4: 113,341,099 (GRCm39) |
T1414I |
probably benign |
Het |
| Sorbs2 |
T |
A |
8: 46,248,952 (GRCm39) |
S734R |
probably damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,972,251 (GRCm39) |
Y528F |
probably benign |
Het |
| Spon1 |
T |
C |
7: 113,629,592 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
C |
T |
11: 30,088,962 (GRCm39) |
V767I |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,860,095 (GRCm39) |
I477V |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,701,331 (GRCm39) |
Y282C |
probably damaging |
Het |
| Tbc1d23 |
A |
G |
16: 56,992,152 (GRCm39) |
Y603H |
probably damaging |
Het |
| Tdpoz6 |
T |
A |
3: 93,599,950 (GRCm39) |
T140S |
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,218 (GRCm39) |
D134G |
probably damaging |
Het |
| Tmem200c |
A |
G |
17: 69,148,733 (GRCm39) |
T439A |
probably benign |
Het |
| Tmem63b |
A |
T |
17: 45,975,908 (GRCm39) |
M515K |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,925,595 (GRCm39) |
N980K |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,530,720 (GRCm39) |
L297F |
probably damaging |
Het |
| Vinac1 |
A |
G |
2: 128,882,789 (GRCm39) |
S76P |
|
Het |
| Vmn1r170 |
A |
G |
7: 23,305,814 (GRCm39) |
N72S |
possibly damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,950,131 (GRCm39) |
M239V |
|
Het |
| Vopp1 |
A |
G |
6: 57,731,578 (GRCm39) |
F138L |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 18,929,501 (GRCm39) |
F79I |
probably benign |
Het |
| Zfp317 |
T |
C |
9: 19,552,521 (GRCm39) |
M1T |
probably null |
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 |
|
|
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 |
|
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'- CAGAGCAGAGAGTAAGACCCTC -3'
(R):5'- TGCCACAAGAGTAAGCACCG -3'
Sequencing Primer
(F):5'- CCCAGTGCTCAGCTTTAGATTAG -3'
(R):5'- GTAAGCACCGCTCAGAAAATG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation