Incidental Mutation 'R2016:Blm'
| ID |
223016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
040025-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2016 (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 80155674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 335
(D335G)
|
| 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: D332G
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: D332G
| 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: D335G
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: D335G
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
C |
2: 164,920,946 (GRCm39) |
D29G |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,240,619 (GRCm39) |
L827F |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,961,213 (GRCm39) |
F570L |
probably damaging |
Het |
| Adck1 |
T |
A |
12: 88,427,862 (GRCm39) |
I493N |
probably damaging |
Het |
| Adra2c |
T |
C |
5: 35,437,656 (GRCm39) |
C143R |
probably damaging |
Het |
| Afg2a |
T |
C |
3: 37,632,911 (GRCm39) |
V839A |
possibly damaging |
Het |
| Akap13 |
C |
T |
7: 75,354,279 (GRCm39) |
T1800M |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,755,747 (GRCm39) |
N240S |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,057,751 (GRCm39) |
D2078N |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,673,405 (GRCm39) |
N989S |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,621 (GRCm39) |
D189G |
probably damaging |
Het |
| Bcam |
G |
A |
7: 19,494,274 (GRCm39) |
T374M |
probably benign |
Het |
| Cbfa2t2 |
T |
C |
2: 154,359,727 (GRCm39) |
L264P |
probably damaging |
Het |
| Col4a2 |
T |
C |
8: 11,495,086 (GRCm39) |
F1515L |
probably benign |
Het |
| Csf2ra |
T |
G |
19: 61,215,331 (GRCm39) |
M95L |
probably benign |
Het |
| Cyp2c70 |
T |
A |
19: 40,152,856 (GRCm39) |
T300S |
possibly damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,921,133 (GRCm39) |
H440L |
probably damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,716,287 (GRCm39) |
D360E |
probably benign |
Het |
| Ddr2 |
T |
C |
1: 169,812,537 (GRCm39) |
M652V |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,327,896 (GRCm39) |
I3370F |
probably damaging |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Efemp1 |
G |
T |
11: 28,871,613 (GRCm39) |
R376L |
probably damaging |
Het |
| Efl1 |
A |
C |
7: 82,402,917 (GRCm39) |
D673A |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,121 (GRCm39) |
M4V |
probably benign |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,751,530 (GRCm39) |
R170C |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,812,270 (GRCm39) |
W362R |
probably damaging |
Het |
| Fam234a |
A |
G |
17: 26,437,290 (GRCm39) |
F91L |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,443,796 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,813,076 (GRCm39) |
K3132E |
possibly damaging |
Het |
| Garin5b |
A |
T |
7: 4,762,397 (GRCm39) |
I244N |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
A |
G |
14: 30,738,326 (GRCm39) |
|
probably null |
Het |
| Has1 |
A |
T |
17: 18,068,532 (GRCm39) |
I274N |
probably damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,811,801 (GRCm39) |
L94P |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,702,389 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,964,275 (GRCm39) |
D475G |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,930,608 (GRCm39) |
M298K |
probably damaging |
Het |
| Kynu |
G |
T |
2: 43,494,289 (GRCm39) |
G241* |
probably null |
Het |
| Lrif1 |
G |
T |
3: 106,639,522 (GRCm39) |
L202F |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,056 (GRCm39) |
K1003E |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,311,393 (GRCm39) |
D487G |
probably damaging |
Het |
| Mapk8ip1 |
A |
G |
2: 92,221,379 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
T |
A |
10: 105,633,167 (GRCm39) |
E425D |
probably benign |
Het |
| Midn |
G |
T |
10: 79,985,949 (GRCm39) |
R13L |
possibly damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,777,713 (GRCm39) |
Y136C |
possibly damaging |
Het |
| Mylk |
G |
A |
16: 34,817,187 (GRCm39) |
V61M |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,831,993 (GRCm39) |
|
probably null |
Het |
| Nle1 |
G |
T |
11: 82,796,373 (GRCm39) |
P166Q |
probably damaging |
Het |
| Nr4a3 |
G |
A |
4: 48,083,252 (GRCm39) |
C595Y |
probably damaging |
Het |
| Or10d4 |
A |
G |
9: 39,580,851 (GRCm39) |
Y166C |
probably damaging |
Het |
| Or4g7 |
G |
T |
2: 111,309,532 (GRCm39) |
M134I |
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,197,959 (GRCm39) |
I190T |
probably benign |
Het |
| Or5w1b |
C |
T |
2: 87,476,396 (GRCm39) |
V24M |
probably benign |
Het |
| Or8b1 |
A |
T |
9: 38,399,309 (GRCm39) |
|
probably null |
Het |
| Pds5a |
T |
A |
5: 65,805,350 (GRCm39) |
|
probably null |
Het |
| Pitpnm1 |
T |
C |
19: 4,161,873 (GRCm39) |
V955A |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,204,340 (GRCm39) |
I898N |
possibly damaging |
Het |
| Plcl2 |
G |
A |
17: 50,913,722 (GRCm39) |
V244M |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,761,663 (GRCm39) |
K257R |
probably damaging |
Het |
| Prkcg |
A |
T |
7: 3,372,066 (GRCm39) |
T460S |
probably damaging |
Het |
| Prl7d1 |
G |
A |
13: 27,894,156 (GRCm39) |
H138Y |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,637,565 (GRCm39) |
S112G |
probably benign |
Het |
| Ptprj |
C |
T |
2: 90,294,958 (GRCm39) |
V417M |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,836,067 (GRCm39) |
I503F |
possibly damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,463,195 (GRCm39) |
V498A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,037 (GRCm39) |
V1314A |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,078,545 (GRCm39) |
I549V |
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,062,522 (GRCm39) |
S230G |
probably benign |
Het |
| Slc5a4a |
T |
G |
10: 75,989,414 (GRCm39) |
F106V |
probably benign |
Het |
| Stat6 |
T |
C |
10: 127,486,665 (GRCm39) |
L147P |
probably damaging |
Het |
| Taar7d |
T |
A |
10: 23,903,642 (GRCm39) |
S175T |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,626,770 (GRCm39) |
I1060K |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,700,080 (GRCm39) |
Q206R |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,061 (GRCm39) |
D231G |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,071,439 (GRCm39) |
|
probably null |
Het |
| Ttll9 |
A |
T |
2: 152,844,214 (GRCm39) |
E374V |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,056,493 (GRCm39) |
D548E |
probably damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,931,851 (GRCm39) |
|
probably null |
Het |
| Zfp282 |
T |
A |
6: 47,874,721 (GRCm39) |
|
probably null |
Het |
| Zfp352 |
A |
G |
4: 90,113,408 (GRCm39) |
E516G |
probably benign |
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 |
|
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'- GGAGTTGAATGATCTAAACGTCAC -3'
(R):5'- GTCTCTTGGGACCAGAAGAC -3'
Sequencing Primer
(F):5'- AGACTTGAAAGATGCGTGTGTG -3'
(R):5'- CTTGGCCATATAGCAAGTTCCAGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation