Incidental Mutation 'R7320:Blm'
| ID |
568137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
045370-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7320 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 80105102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1389
(Q1389*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
| AlphaFold |
O88700 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081314
AA Change: Q1386*
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: Q1386*
| 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 null
Transcript: ENSMUST00000170315
AA Change: Q1389*
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: Q1389*
| 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 |
probably null
Transcript: ENSMUST00000206901
AA Change: Q124*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206989
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,258,471 (GRCm39) |
I458T |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,325,749 (GRCm39) |
I235T |
possibly damaging |
Het |
| Afap1 |
G |
A |
5: 36,105,567 (GRCm39) |
V174I |
probably damaging |
Het |
| Ak8 |
A |
T |
2: 28,703,004 (GRCm39) |
D456V |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,612,846 (GRCm39) |
|
probably null |
Het |
| Alox12 |
C |
T |
11: 70,145,298 (GRCm39) |
A92T |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,342,371 (GRCm39) |
S218P |
probably benign |
Het |
| C1ql4 |
A |
T |
15: 98,985,605 (GRCm39) |
V2E |
unknown |
Het |
| Casp12 |
A |
G |
9: 5,348,897 (GRCm39) |
|
probably null |
Het |
| Ccdc73 |
A |
T |
2: 104,829,521 (GRCm39) |
I1065F |
possibly damaging |
Het |
| Ccdc83 |
C |
T |
7: 89,873,242 (GRCm39) |
G371D |
probably damaging |
Het |
| Cfap65 |
A |
G |
1: 74,965,763 (GRCm39) |
S416P |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,319,012 (GRCm39) |
C1351S |
probably damaging |
Het |
| Clcn4 |
A |
T |
7: 7,294,827 (GRCm39) |
H311Q |
probably benign |
Het |
| Cldn13 |
T |
G |
5: 134,943,874 (GRCm39) |
I104L |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,821,835 (GRCm39) |
V1880A |
possibly damaging |
Het |
| Ddx17 |
A |
T |
15: 79,416,105 (GRCm39) |
D407E |
probably damaging |
Het |
| Ddx28 |
G |
A |
8: 106,737,957 (GRCm39) |
P34S |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,270,616 (GRCm39) |
N973Y |
probably null |
Het |
| Dnai4 |
A |
T |
4: 102,907,384 (GRCm39) |
I634N |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,527,421 (GRCm39) |
|
probably null |
Het |
| Dock3 |
T |
C |
9: 106,772,723 (GRCm39) |
D510G |
probably benign |
Het |
| Dst |
T |
A |
1: 34,230,175 (GRCm39) |
D2589E |
probably benign |
Het |
| E2f7 |
T |
C |
10: 110,599,991 (GRCm39) |
Y249H |
not run |
Het |
| Eef2kmt |
T |
C |
16: 5,068,373 (GRCm39) |
Y69C |
possibly damaging |
Het |
| Elapor1 |
T |
A |
3: 108,371,619 (GRCm39) |
K650* |
probably null |
Het |
| Erlin1 |
T |
C |
19: 44,047,504 (GRCm39) |
Y139C |
probably damaging |
Het |
| Exog |
G |
T |
9: 119,291,544 (GRCm39) |
V274L |
possibly damaging |
Het |
| Fam83e |
G |
A |
7: 45,371,896 (GRCm39) |
V98M |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,857,745 (GRCm39) |
T2013I |
probably benign |
Het |
| Gart |
G |
T |
16: 91,418,569 (GRCm39) |
A970E |
probably benign |
Het |
| Gga2 |
T |
A |
7: 121,601,326 (GRCm39) |
H259L |
probably benign |
Het |
| Glis3 |
C |
A |
19: 28,508,998 (GRCm39) |
V329F |
probably damaging |
Het |
| Gm6356 |
T |
A |
14: 6,972,923 (GRCm38) |
N53I |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,736,313 (GRCm39) |
C1894* |
probably null |
Het |
| Ifi203 |
T |
C |
1: 173,756,733 (GRCm39) |
N350S |
unknown |
Het |
| Isy1 |
T |
A |
6: 87,810,688 (GRCm39) |
R55S |
unknown |
Het |
| Itsn1 |
A |
T |
16: 91,636,587 (GRCm39) |
D678V |
unknown |
Het |
| Lhcgr |
T |
A |
17: 89,049,506 (GRCm39) |
R673S |
probably benign |
Het |
| Lnx2 |
C |
A |
5: 146,956,943 (GRCm39) |
R601L |
possibly damaging |
Het |
| Map4 |
A |
G |
9: 109,910,585 (GRCm39) |
T1093A |
probably benign |
Het |
| Minar1 |
A |
G |
9: 89,483,679 (GRCm39) |
S573P |
probably benign |
Het |
| Mink1 |
A |
G |
11: 70,489,899 (GRCm39) |
K92E |
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,177,363 (GRCm39) |
I560V |
probably benign |
Het |
| Mrc2 |
C |
A |
11: 105,220,061 (GRCm39) |
D327E |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,038,643 (GRCm39) |
E1262G |
possibly damaging |
Het |
| Or2g1 |
T |
A |
17: 38,107,248 (GRCm39) |
N304K |
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,476,297 (GRCm39) |
L15S |
probably benign |
Het |
| Or52d3 |
C |
A |
7: 104,229,645 (GRCm39) |
S264* |
probably null |
Het |
| Or5an1 |
G |
A |
19: 12,261,180 (GRCm39) |
G256D |
possibly damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,544 (GRCm39) |
M279K |
possibly damaging |
Het |
| Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
| Or5m13 |
A |
T |
2: 85,748,718 (GRCm39) |
I150F |
probably benign |
Het |
| Or6c5b |
A |
T |
10: 129,245,654 (GRCm39) |
T140S |
possibly damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,381,782 (GRCm39) |
V5E |
probably damaging |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Pgghg |
A |
T |
7: 140,522,953 (GRCm39) |
Y104F |
probably benign |
Het |
| Plscr2 |
T |
C |
9: 92,173,193 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
C |
T |
6: 146,879,551 (GRCm39) |
A25V |
probably damaging |
Het |
| Ptgfr |
C |
T |
3: 151,541,034 (GRCm39) |
G158D |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,978,446 (GRCm39) |
F186S |
probably damaging |
Het |
| Ptpn14 |
A |
G |
1: 189,564,956 (GRCm39) |
E181G |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,673 (GRCm39) |
K291E |
possibly damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,085,122 (GRCm39) |
|
probably null |
Het |
| Sema3b |
T |
A |
9: 107,478,141 (GRCm39) |
M415L |
probably benign |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,216 (GRCm39) |
E688G |
probably damaging |
Het |
| Slco6c1 |
G |
A |
1: 97,055,887 (GRCm39) |
R5C |
possibly damaging |
Het |
| Slmap |
A |
G |
14: 26,181,227 (GRCm39) |
F369L |
possibly damaging |
Het |
| Sphk2 |
T |
C |
7: 45,361,894 (GRCm39) |
N181S |
possibly damaging |
Het |
| Sqor |
A |
G |
2: 122,641,730 (GRCm39) |
T235A |
probably benign |
Het |
| St13 |
A |
G |
15: 81,273,854 (GRCm39) |
L80P |
probably damaging |
Het |
| St3gal6 |
A |
G |
16: 58,314,074 (GRCm39) |
Y20H |
probably benign |
Het |
| Sun1 |
T |
G |
5: 139,234,239 (GRCm39) |
Y899D |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,385,128 (GRCm39) |
E845K |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,566,633 (GRCm39) |
D1227V |
possibly damaging |
Het |
| Thbs1 |
A |
G |
2: 117,945,438 (GRCm39) |
N306D |
possibly damaging |
Het |
| Tmcc3 |
A |
T |
10: 94,414,357 (GRCm39) |
N51Y |
possibly damaging |
Het |
| Usp4 |
A |
G |
9: 108,265,505 (GRCm39) |
D856G |
probably benign |
Het |
| Vil1 |
G |
A |
1: 74,457,603 (GRCm39) |
A79T |
probably damaging |
Het |
| Vmn1r119 |
T |
A |
7: 20,746,271 (GRCm39) |
H37L |
probably damaging |
Het |
| Vmn2r110 |
A |
T |
17: 20,816,316 (GRCm39) |
M69K |
probably benign |
Het |
| Ywhaq |
A |
G |
12: 21,444,982 (GRCm39) |
L221P |
probably damaging |
Het |
| Zfp142 |
G |
A |
1: 74,609,167 (GRCm39) |
Q1543* |
probably null |
Het |
| Zfp384 |
T |
A |
6: 125,001,793 (GRCm39) |
M146K |
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 |
|
|
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 |
|
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'- TGCTGTAACAAGACTAACAGCTTTC -3'
(R):5'- AGAGCATACTTGTGTACTGGGG -3'
Sequencing Primer
(F):5'- CTATTCACAGATGGTCAGATGCTG -3'
(R):5'- GGGCAACTTACCCTCTCGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation