Incidental Mutation 'R1966:Blm'
| ID |
218955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
039979-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1966 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80162934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 139
(F139Y)
|
| 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: F136Y
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: F136Y
| 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 |
possibly damaging
Transcript: ENSMUST00000170315
AA Change: F139Y
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: F139Y
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,650 (GRCm39) |
V185E |
probably benign |
Het |
| Abca1 |
A |
C |
4: 53,050,409 (GRCm39) |
V1608G |
probably damaging |
Het |
| Ap2b1 |
T |
C |
11: 83,237,721 (GRCm39) |
I557T |
probably benign |
Het |
| Arhgef15 |
G |
T |
11: 68,845,501 (GRCm39) |
P117Q |
probably damaging |
Het |
| Arhgef39 |
T |
C |
4: 43,496,710 (GRCm39) |
S335G |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,538,783 (GRCm39) |
R581* |
probably null |
Het |
| Cadps |
C |
A |
14: 12,822,450 (GRCm38) |
E97* |
probably null |
Het |
| Cavin2 |
T |
A |
1: 51,328,801 (GRCm39) |
L86Q |
probably damaging |
Het |
| Ccdc136 |
A |
G |
6: 29,418,091 (GRCm39) |
E787G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,159,361 (GRCm39) |
Y2138C |
probably damaging |
Het |
| Cdk12 |
T |
A |
11: 98,094,916 (GRCm39) |
Y241* |
probably null |
Het |
| Clcn4 |
T |
A |
7: 7,287,184 (GRCm39) |
*688L |
probably null |
Het |
| Cntnap1 |
T |
C |
11: 101,071,212 (GRCm39) |
V375A |
possibly damaging |
Het |
| Coq5 |
T |
A |
5: 115,432,890 (GRCm39) |
|
probably null |
Het |
| Cyp4b1 |
A |
G |
4: 115,483,076 (GRCm39) |
I405T |
probably benign |
Het |
| Det1 |
T |
C |
7: 78,492,966 (GRCm39) |
Y346C |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,683,389 (GRCm39) |
V276E |
probably damaging |
Het |
| Epb41l2 |
G |
A |
10: 25,317,666 (GRCm39) |
R61Q |
probably benign |
Het |
| Fam76b |
G |
A |
9: 13,739,362 (GRCm39) |
|
probably null |
Het |
| Fbxo45 |
A |
T |
16: 32,052,048 (GRCm39) |
D238E |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,400,779 (GRCm39) |
T314I |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,823,124 (GRCm39) |
S6286P |
possibly damaging |
Het |
| Gbf1 |
T |
C |
19: 46,260,003 (GRCm39) |
F999L |
probably damaging |
Het |
| Gnao1 |
C |
A |
8: 94,670,827 (GRCm39) |
T102K |
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 187,054,498 (GRCm39) |
D76E |
probably damaging |
Het |
| Gpd1l |
A |
G |
9: 114,743,462 (GRCm39) |
I146T |
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,232,005 (GRCm39) |
H508Q |
probably damaging |
Het |
| Hapstr1 |
A |
G |
16: 8,648,445 (GRCm39) |
E41G |
possibly damaging |
Het |
| Hk3 |
A |
T |
13: 55,162,268 (GRCm39) |
F112Y |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,279,341 (GRCm39) |
I1781S |
probably damaging |
Het |
| Inhba |
A |
T |
13: 16,201,221 (GRCm39) |
K261M |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,327,343 (GRCm39) |
Q44L |
probably damaging |
Het |
| Kcns1 |
G |
T |
2: 164,010,455 (GRCm39) |
F101L |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,541,611 (GRCm39) |
|
probably null |
Het |
| Klhl14 |
C |
T |
18: 21,687,730 (GRCm39) |
G564D |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,305,658 (GRCm39) |
V2E |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,801,572 (GRCm39) |
E61G |
probably damaging |
Het |
| Krt1 |
T |
C |
15: 101,757,427 (GRCm39) |
D261G |
probably benign |
Het |
| Lama5 |
C |
A |
2: 179,830,145 (GRCm39) |
C1896F |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,513,175 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
A |
G |
16: 32,734,755 (GRCm39) |
T82A |
possibly damaging |
Het |
| Maml3 |
C |
G |
3: 52,011,560 (GRCm39) |
G2A |
unknown |
Het |
| Mapkap1 |
T |
A |
2: 34,408,691 (GRCm39) |
N34K |
probably damaging |
Het |
| Muc13 |
A |
T |
16: 33,634,909 (GRCm39) |
I488F |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,357,113 (GRCm39) |
D1129G |
possibly damaging |
Het |
| Nacc1 |
A |
T |
8: 85,403,010 (GRCm39) |
N288K |
probably damaging |
Het |
| Nek1 |
T |
G |
8: 61,469,330 (GRCm39) |
I129R |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,302,390 (GRCm39) |
S319R |
possibly damaging |
Het |
| Nle1 |
C |
T |
11: 82,792,614 (GRCm39) |
G432D |
probably damaging |
Het |
| Nol4l |
A |
G |
2: 153,371,375 (GRCm39) |
V103A |
probably benign |
Het |
| Oca2 |
A |
G |
7: 56,064,215 (GRCm39) |
I737V |
probably damaging |
Het |
| Or12k5 |
A |
T |
2: 36,894,960 (GRCm39) |
F222Y |
possibly damaging |
Het |
| Or1j17 |
G |
A |
2: 36,578,796 (GRCm39) |
V261I |
probably benign |
Het |
| Or4b1 |
T |
C |
2: 89,979,748 (GRCm39) |
S201G |
probably damaging |
Het |
| Or51l4 |
G |
T |
7: 103,404,375 (GRCm39) |
T139K |
probably damaging |
Het |
| Or52ac1 |
A |
G |
7: 104,246,008 (GRCm39) |
C127R |
probably damaging |
Het |
| Or6k6 |
G |
T |
1: 173,944,817 (GRCm39) |
S255* |
probably null |
Het |
| Or6s1 |
T |
A |
14: 51,308,614 (GRCm39) |
I79F |
probably damaging |
Het |
| Orc1 |
T |
A |
4: 108,469,414 (GRCm39) |
I746N |
probably damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,352,795 (GRCm39) |
D147G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plin5 |
T |
A |
17: 56,419,186 (GRCm39) |
D412V |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,008 (GRCm39) |
Y314F |
possibly damaging |
Het |
| Ppid |
A |
T |
3: 79,509,606 (GRCm39) |
K308* |
probably null |
Het |
| Prss38 |
T |
C |
11: 59,264,310 (GRCm39) |
Y219C |
probably damaging |
Het |
| Ptx3 |
C |
T |
3: 66,132,042 (GRCm39) |
R188C |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,435,887 (GRCm39) |
V504E |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,701,330 (GRCm39) |
Y1237H |
probably damaging |
Het |
| Rpp30 |
C |
T |
19: 36,066,549 (GRCm39) |
S94L |
probably damaging |
Het |
| Rrp15 |
C |
T |
1: 186,468,402 (GRCm39) |
V205I |
possibly damaging |
Het |
| Scpep1 |
A |
G |
11: 88,843,240 (GRCm39) |
W73R |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,357,077 (GRCm39) |
H376R |
probably damaging |
Het |
| Serping1 |
G |
T |
2: 84,596,072 (GRCm39) |
T454K |
probably damaging |
Het |
| Shtn1 |
T |
G |
19: 58,963,470 (GRCm39) |
Y615S |
probably benign |
Het |
| Slc20a2 |
C |
A |
8: 23,035,553 (GRCm39) |
P184T |
probably damaging |
Het |
| Slc22a29 |
C |
A |
19: 8,195,772 (GRCm39) |
R89L |
probably damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,773,634 (GRCm39) |
Q313R |
probably damaging |
Het |
| Tas2r122 |
A |
T |
6: 132,688,157 (GRCm39) |
Y245* |
probably null |
Het |
| Ticrr |
C |
A |
7: 79,344,483 (GRCm39) |
C1449* |
probably null |
Het |
| Tmem181a |
T |
C |
17: 6,353,501 (GRCm39) |
V412A |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,165,011 (GRCm39) |
E616V |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,764,640 (GRCm39) |
K714R |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,260,470 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
T |
C |
17: 47,265,845 (GRCm39) |
T1163A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,178,555 (GRCm39) |
|
probably null |
Het |
| Ulk2 |
A |
T |
11: 61,710,297 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
T |
A |
9: 121,086,182 (GRCm39) |
M350L |
probably benign |
Het |
| Vmn1r185 |
T |
C |
7: 26,310,956 (GRCm39) |
E183G |
probably benign |
Het |
| Vmn1r76 |
T |
A |
7: 11,664,441 (GRCm39) |
I223F |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,154,861 (GRCm39) |
T19A |
possibly damaging |
Het |
| Wdr59 |
T |
G |
8: 112,177,535 (GRCm39) |
T973P |
possibly damaging |
Het |
| Wnk2 |
A |
G |
13: 49,192,487 (GRCm39) |
S664P |
probably damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,033,827 (GRCm39) |
D49E |
probably benign |
Het |
| Zfp120 |
A |
T |
2: 149,959,318 (GRCm39) |
C335S |
probably damaging |
Het |
| Zfp30 |
C |
A |
7: 29,491,877 (GRCm39) |
Q44K |
probably benign |
Het |
| Zfp541 |
T |
C |
7: 15,812,996 (GRCm39) |
S550P |
probably benign |
Het |
| Zw10 |
C |
A |
9: 48,980,133 (GRCm39) |
N421K |
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 |
|
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 |
|
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'- ACTGCATTGGCTTTACGAGG -3'
(R):5'- ACGTGTCTGAGGCCTTTTC -3'
Sequencing Primer
(F):5'- CTTTACGAGGTGGTGGTTTAAAGAAG -3'
(R):5'- TGAGGCCTTTTCATTCACTGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation