Incidental Mutation 'R6364:Blm'
| ID |
513411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
044514-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6364 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 80144274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 782
(C782*)
|
| 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: C779*
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: C779*
| 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: C782*
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: C782*
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
99% (69/70) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,869,673 (GRCm39) |
Y234C |
possibly damaging |
Het |
| Ambra1 |
C |
A |
2: 91,603,661 (GRCm39) |
H548Q |
possibly damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,546,328 (GRCm39) |
|
probably null |
Het |
| Apol11b |
A |
G |
15: 77,522,258 (GRCm39) |
V13A |
possibly damaging |
Het |
| Arhgdib |
C |
T |
6: 136,909,253 (GRCm39) |
|
probably null |
Het |
| B3galt1 |
T |
A |
2: 67,949,016 (GRCm39) |
S244T |
probably damaging |
Het |
| Bace2 |
A |
G |
16: 97,214,633 (GRCm39) |
I274V |
probably benign |
Het |
| Bfsp2 |
A |
T |
9: 103,325,827 (GRCm39) |
V272D |
probably damaging |
Het |
| Cfi |
G |
A |
3: 129,666,495 (GRCm39) |
S406N |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,972,248 (GRCm39) |
H660N |
possibly damaging |
Het |
| Cops3 |
A |
G |
11: 59,726,230 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,950,939 (GRCm39) |
V502I |
possibly damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,205,352 (GRCm39) |
D412E |
probably damaging |
Het |
| Epop |
A |
G |
11: 97,519,513 (GRCm39) |
S199P |
probably benign |
Het |
| Evi5 |
G |
T |
5: 107,989,979 (GRCm39) |
P80Q |
probably damaging |
Het |
| Faf1 |
T |
C |
4: 109,818,997 (GRCm39) |
V623A |
possibly damaging |
Het |
| Fam83c |
T |
C |
2: 155,676,443 (GRCm39) |
D109G |
probably damaging |
Het |
| Fam83d |
T |
C |
2: 158,625,179 (GRCm39) |
|
probably null |
Het |
| Flacc1 |
G |
T |
1: 58,697,531 (GRCm39) |
A403D |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,354,952 (GRCm39) |
N71D |
probably benign |
Het |
| Gm7298 |
A |
G |
6: 121,756,402 (GRCm39) |
R1016G |
possibly damaging |
Het |
| Grin2d |
T |
C |
7: 45,507,878 (GRCm39) |
E396G |
possibly damaging |
Het |
| Htra2 |
C |
A |
6: 83,030,027 (GRCm39) |
V311F |
probably damaging |
Het |
| Kif6 |
A |
T |
17: 49,927,651 (GRCm39) |
T33S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,514,634 (GRCm39) |
I3070V |
probably null |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,800 (GRCm39) |
C293* |
probably null |
Het |
| Lrp3 |
T |
A |
7: 34,903,134 (GRCm39) |
D404V |
probably benign |
Het |
| LTO1 |
A |
G |
7: 144,473,005 (GRCm39) |
D105G |
probably benign |
Het |
| Mc2r |
T |
G |
18: 68,540,607 (GRCm39) |
I229L |
probably benign |
Het |
| Mtnr1b |
A |
G |
9: 15,774,300 (GRCm39) |
M253T |
possibly damaging |
Het |
| Nfat5 |
A |
G |
8: 108,094,909 (GRCm39) |
N531S |
probably benign |
Het |
| Niban3 |
G |
A |
8: 72,051,733 (GRCm39) |
G23S |
probably benign |
Het |
| Npr2 |
T |
A |
4: 43,643,622 (GRCm39) |
I550N |
probably damaging |
Het |
| Npy6r |
T |
C |
18: 44,409,578 (GRCm39) |
I333T |
possibly damaging |
Het |
| Nup88 |
C |
T |
11: 70,838,612 (GRCm39) |
R468Q |
probably benign |
Het |
| Nup98 |
G |
A |
7: 101,825,522 (GRCm39) |
T422I |
probably damaging |
Het |
| Or10aa1 |
T |
A |
1: 173,869,778 (GRCm39) |
H87Q |
possibly damaging |
Het |
| Otud4 |
A |
G |
8: 80,372,970 (GRCm39) |
N96S |
probably damaging |
Het |
| Paqr6 |
T |
C |
3: 88,273,265 (GRCm39) |
F86L |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,138,035 (GRCm39) |
T90S |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,534,091 (GRCm39) |
N23K |
probably damaging |
Het |
| Ralgapb |
G |
T |
2: 158,304,029 (GRCm39) |
G596V |
probably damaging |
Het |
| Rdm1 |
G |
A |
11: 101,521,068 (GRCm39) |
R94H |
probably benign |
Het |
| Rergl |
A |
T |
6: 139,477,746 (GRCm39) |
F28I |
probably damaging |
Het |
| Rif1 |
G |
T |
2: 51,997,681 (GRCm39) |
S1000I |
probably damaging |
Het |
| Rnf141 |
C |
T |
7: 110,420,516 (GRCm39) |
A163T |
possibly damaging |
Het |
| Scaf4 |
G |
A |
16: 90,057,136 (GRCm39) |
Q72* |
probably null |
Het |
| Sdk1 |
G |
T |
5: 141,948,464 (GRCm39) |
S603I |
probably benign |
Het |
| Sdsl |
T |
C |
5: 120,598,674 (GRCm39) |
I147M |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,495 (GRCm39) |
N85D |
probably benign |
Het |
| Serpinf2 |
A |
G |
11: 75,327,315 (GRCm39) |
I204T |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,964,146 (GRCm39) |
S795G |
probably benign |
Het |
| Simc1 |
C |
T |
13: 54,672,413 (GRCm39) |
Q254* |
probably null |
Het |
| Slc30a3 |
G |
A |
5: 31,246,083 (GRCm39) |
P216S |
possibly damaging |
Het |
| Smim14 |
T |
A |
5: 65,610,639 (GRCm39) |
I53F |
probably benign |
Het |
| Sp3 |
T |
C |
2: 72,801,285 (GRCm39) |
T243A |
probably benign |
Het |
| Srpk2 |
A |
G |
5: 23,745,465 (GRCm39) |
F164L |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,543,910 (GRCm39) |
F4403L |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,130,630 (GRCm39) |
T267A |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
| Tmbim6 |
T |
C |
15: 99,304,066 (GRCm39) |
L113P |
probably damaging |
Het |
| Tmcc1 |
G |
A |
6: 116,020,722 (GRCm39) |
|
probably benign |
Het |
| Tomm7 |
A |
G |
5: 24,049,028 (GRCm39) |
L15P |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,691,875 (GRCm39) |
Y263C |
probably damaging |
Het |
| Trim34b |
T |
C |
7: 103,985,733 (GRCm39) |
F456S |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,260 (GRCm39) |
I421T |
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,964,649 (GRCm39) |
E676G |
probably damaging |
Het |
| Zcchc14 |
G |
T |
8: 122,331,598 (GRCm39) |
|
probably benign |
Het |
| Zfp64 |
C |
A |
2: 168,754,186 (GRCm39) |
G25V |
probably damaging |
Het |
| Zswim8 |
C |
A |
14: 20,763,079 (GRCm39) |
P326H |
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 |
|
|
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 |
|
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'- AAGCAGCAGAGCGATCAGTC -3'
(R):5'- CATGTGGTAACTCTCAGAGCTAC -3'
Sequencing Primer
(F):5'- GAGCGATCAGTCAGCCAC -3'
(R):5'- GGTAACTCTCAGAGCTACTAGCCTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation