Incidental Mutation 'R1911:Nbas'
ID |
210300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nbas
|
Ensembl Gene |
ENSMUSG00000020576 |
Gene Name |
neuroblastoma amplified sequence |
Synonyms |
4933425L03Rik |
MMRRC Submission |
039929-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1911 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
13319134-13633812 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 13616145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 2228
(C2228S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042953]
|
AlphaFold |
E9Q411 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042953
AA Change: C2228S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036082 Gene: ENSMUSG00000020576 AA Change: C2228S
Domain | Start | End | E-Value | Type |
Pfam:Nbas_N
|
89 |
370 |
4.7e-171 |
PFAM |
low complexity region
|
463 |
475 |
N/A |
INTRINSIC |
low complexity region
|
653 |
667 |
N/A |
INTRINSIC |
Pfam:Sec39
|
725 |
1375 |
3.8e-34 |
PFAM |
low complexity region
|
1392 |
1404 |
N/A |
INTRINSIC |
low complexity region
|
1549 |
1566 |
N/A |
INTRINSIC |
low complexity region
|
2226 |
2252 |
N/A |
INTRINSIC |
low complexity region
|
2275 |
2285 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221714
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223081
|
Meta Mutation Damage Score |
0.3044 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.2%
|
Validation Efficiency |
99% (99/100) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
|
Allele List at MGI |
All alleles(10) : Targeted, other(2) Gene trapped(8)
|
Other mutations in this stock |
Total: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
T |
A |
6: 91,927,050 (GRCm39) |
|
probably benign |
Het |
Abca7 |
T |
C |
10: 79,842,468 (GRCm39) |
V1134A |
probably benign |
Het |
Acaa2 |
A |
G |
18: 74,925,483 (GRCm39) |
E82G |
probably benign |
Het |
Acap1 |
T |
C |
11: 69,772,548 (GRCm39) |
D521G |
probably damaging |
Het |
Adam19 |
T |
C |
11: 46,012,281 (GRCm39) |
V259A |
probably damaging |
Het |
Adss1 |
T |
C |
12: 112,599,443 (GRCm39) |
V140A |
probably benign |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Aldh3b1 |
T |
G |
19: 3,971,187 (GRCm39) |
D159A |
probably damaging |
Het |
Ank1 |
T |
C |
8: 23,589,666 (GRCm39) |
V589A |
probably damaging |
Het |
Ano2 |
G |
A |
6: 125,990,654 (GRCm39) |
D803N |
probably benign |
Het |
Arid1b |
A |
G |
17: 5,393,241 (GRCm39) |
E2257G |
probably damaging |
Het |
Asb17 |
T |
C |
3: 153,550,138 (GRCm39) |
Y57H |
probably benign |
Het |
Asph |
T |
C |
4: 9,453,335 (GRCm39) |
E646G |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,405,832 (GRCm39) |
I1573K |
probably benign |
Het |
Bcas1 |
C |
A |
2: 170,229,863 (GRCm39) |
D236Y |
probably damaging |
Het |
Bcas2 |
G |
T |
3: 103,079,113 (GRCm39) |
G9* |
probably null |
Het |
Btaf1 |
A |
G |
19: 36,964,030 (GRCm39) |
Q867R |
probably benign |
Het |
Calhm3 |
C |
T |
19: 47,143,908 (GRCm39) |
V132I |
possibly damaging |
Het |
Ccer1 |
A |
T |
10: 97,530,539 (GRCm39) |
I401F |
possibly damaging |
Het |
Cdcp3 |
T |
C |
7: 130,839,818 (GRCm39) |
V580A |
probably damaging |
Het |
Cecr2 |
T |
A |
6: 120,739,526 (GRCm39) |
|
probably benign |
Het |
Cep104 |
G |
A |
4: 154,091,255 (GRCm39) |
R925Q |
possibly damaging |
Het |
Cep164 |
T |
A |
9: 45,682,104 (GRCm39) |
M1900L |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,873,673 (GRCm39) |
V1145A |
possibly damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,008,399 (GRCm39) |
N180K |
possibly damaging |
Het |
Dennd4a |
T |
C |
9: 64,796,368 (GRCm39) |
L798P |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,011,230 (GRCm39) |
I1129T |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,406,578 (GRCm39) |
N555D |
possibly damaging |
Het |
Dock1 |
T |
A |
7: 134,601,029 (GRCm39) |
M988K |
probably damaging |
Het |
Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
Endov |
T |
C |
11: 119,393,177 (GRCm39) |
V109A |
possibly damaging |
Het |
Epha8 |
T |
C |
4: 136,663,625 (GRCm39) |
Y477C |
probably damaging |
Het |
Erlin1 |
A |
G |
19: 44,037,561 (GRCm39) |
M188T |
probably damaging |
Het |
Fhip1a |
T |
A |
3: 85,568,525 (GRCm39) |
D998V |
probably benign |
Het |
Fhod3 |
A |
T |
18: 25,245,643 (GRCm39) |
D1231V |
possibly damaging |
Het |
Gimap3 |
T |
A |
6: 48,742,646 (GRCm39) |
I95F |
possibly damaging |
Het |
Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
Grk1 |
C |
A |
8: 13,457,923 (GRCm39) |
D274E |
probably damaging |
Het |
Gsdmc2 |
G |
A |
15: 63,699,621 (GRCm39) |
A269V |
probably benign |
Het |
Krt33a |
T |
A |
11: 99,903,175 (GRCm39) |
Q289L |
probably benign |
Het |
Krt76 |
T |
A |
15: 101,796,600 (GRCm39) |
K403* |
probably null |
Het |
Lcn4 |
T |
C |
2: 26,560,607 (GRCm39) |
|
probably benign |
Het |
Mab21l1 |
T |
C |
3: 55,691,048 (GRCm39) |
S212P |
possibly damaging |
Het |
Mapk8ip3 |
A |
C |
17: 25,123,025 (GRCm39) |
D610E |
probably benign |
Het |
Mastl |
G |
T |
2: 23,022,692 (GRCm39) |
S677* |
probably null |
Het |
Mfap3 |
T |
C |
11: 57,420,562 (GRCm39) |
F181S |
probably damaging |
Het |
Mlkl |
T |
C |
8: 112,038,732 (GRCm39) |
|
probably benign |
Het |
Mov10 |
G |
A |
3: 104,708,876 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,350,041 (GRCm39) |
F595L |
probably benign |
Het |
Nit2 |
G |
A |
16: 56,982,046 (GRCm39) |
|
probably benign |
Het |
Nod1 |
C |
T |
6: 54,921,425 (GRCm39) |
V298M |
probably damaging |
Het |
Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
Or4c111 |
A |
G |
2: 88,843,565 (GRCm39) |
L281P |
probably damaging |
Het |
Or52b1 |
T |
A |
7: 104,978,590 (GRCm39) |
I270F |
probably benign |
Het |
Or6c210 |
A |
T |
10: 129,495,981 (GRCm39) |
D102V |
probably benign |
Het |
Or7g12 |
T |
C |
9: 18,900,196 (GRCm39) |
L304P |
probably damaging |
Het |
Osbpl5 |
C |
A |
7: 143,243,662 (GRCm39) |
R864L |
probably benign |
Het |
Pcnt |
G |
A |
10: 76,204,650 (GRCm39) |
T2585M |
possibly damaging |
Het |
Pepd |
C |
T |
7: 34,634,174 (GRCm39) |
|
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,326,548 (GRCm39) |
I341V |
probably damaging |
Het |
Pramel32 |
T |
C |
4: 88,548,309 (GRCm39) |
Q32R |
possibly damaging |
Het |
Prune2 |
T |
A |
19: 17,091,038 (GRCm39) |
F281I |
probably benign |
Het |
Psg19 |
T |
G |
7: 18,528,193 (GRCm39) |
Q183H |
probably damaging |
Het |
Psme4 |
T |
G |
11: 30,765,658 (GRCm39) |
S587A |
probably benign |
Het |
Ptpro |
T |
C |
6: 137,377,617 (GRCm39) |
|
probably benign |
Het |
Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
Rasgrp4 |
T |
C |
7: 28,838,302 (GRCm39) |
V92A |
probably damaging |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Rexo5 |
C |
T |
7: 119,398,867 (GRCm39) |
A68V |
probably damaging |
Het |
Robo2 |
A |
T |
16: 73,755,213 (GRCm39) |
N769K |
probably damaging |
Het |
Sfrp5 |
C |
T |
19: 42,187,237 (GRCm39) |
V278I |
probably benign |
Het |
Sidt1 |
A |
G |
16: 44,102,234 (GRCm39) |
S309P |
possibly damaging |
Het |
Slc22a6 |
A |
C |
19: 8,599,246 (GRCm39) |
Q292H |
probably benign |
Het |
Slc4a3 |
G |
A |
1: 75,530,367 (GRCm39) |
R690H |
probably damaging |
Het |
Snx7 |
A |
T |
3: 117,623,317 (GRCm39) |
|
probably null |
Het |
Spag6 |
T |
A |
2: 18,720,616 (GRCm39) |
Y129* |
probably null |
Het |
Srcap |
T |
C |
7: 127,133,994 (GRCm39) |
I905T |
probably damaging |
Het |
St6gal1 |
T |
G |
16: 23,140,383 (GRCm39) |
S185A |
probably damaging |
Het |
Sult6b1 |
G |
A |
17: 79,196,393 (GRCm39) |
H250Y |
possibly damaging |
Het |
Tdrd6 |
T |
G |
17: 43,937,979 (GRCm39) |
N1023T |
probably benign |
Het |
Tecta |
C |
T |
9: 42,249,232 (GRCm39) |
E1877K |
probably damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tex14 |
T |
A |
11: 87,385,861 (GRCm39) |
D240E |
probably damaging |
Het |
Tex47 |
T |
C |
5: 7,355,022 (GRCm39) |
Y68H |
probably damaging |
Het |
Thbs2 |
A |
G |
17: 14,910,104 (GRCm39) |
V165A |
probably benign |
Het |
Tmem126b |
T |
A |
7: 90,118,367 (GRCm39) |
Y171F |
possibly damaging |
Het |
Tpsg1 |
G |
T |
17: 25,592,374 (GRCm39) |
M46I |
probably benign |
Het |
Trmt2a |
A |
G |
16: 18,069,070 (GRCm39) |
K304R |
probably benign |
Het |
Ttc28 |
G |
T |
5: 111,428,616 (GRCm39) |
R1845L |
possibly damaging |
Het |
Umodl1 |
A |
T |
17: 31,211,128 (GRCm39) |
T884S |
possibly damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,461,001 (GRCm39) |
K776E |
probably damaging |
Het |
Vmn2r88 |
T |
C |
14: 51,655,671 (GRCm39) |
S627P |
probably damaging |
Het |
Vrk1 |
T |
C |
12: 106,024,236 (GRCm39) |
|
probably null |
Het |
Zfp644 |
A |
G |
5: 106,783,137 (GRCm39) |
M1079T |
possibly damaging |
Het |
Znrf1 |
T |
C |
8: 112,348,233 (GRCm39) |
*41Q |
probably null |
Het |
Znrf1 |
T |
C |
8: 112,348,244 (GRCm39) |
F183L |
possibly damaging |
Het |
|
Other mutations in Nbas |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00486:Nbas
|
APN |
12 |
13,503,076 (GRCm39) |
missense |
probably benign |
0.19 |
IGL00712:Nbas
|
APN |
12 |
13,412,626 (GRCm39) |
splice site |
probably benign |
|
IGL00808:Nbas
|
APN |
12 |
13,616,121 (GRCm39) |
splice site |
probably benign |
|
IGL00915:Nbas
|
APN |
12 |
13,424,753 (GRCm39) |
nonsense |
probably null |
|
IGL00923:Nbas
|
APN |
12 |
13,386,285 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01152:Nbas
|
APN |
12 |
13,410,959 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01633:Nbas
|
APN |
12 |
13,533,898 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01672:Nbas
|
APN |
12 |
13,429,650 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01799:Nbas
|
APN |
12 |
13,374,401 (GRCm39) |
splice site |
probably benign |
|
IGL01812:Nbas
|
APN |
12 |
13,503,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01934:Nbas
|
APN |
12 |
13,339,880 (GRCm39) |
splice site |
probably benign |
|
IGL02093:Nbas
|
APN |
12 |
13,610,963 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02115:Nbas
|
APN |
12 |
13,367,693 (GRCm39) |
splice site |
probably benign |
|
IGL02175:Nbas
|
APN |
12 |
13,616,260 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02268:Nbas
|
APN |
12 |
13,455,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02483:Nbas
|
APN |
12 |
13,374,295 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02539:Nbas
|
APN |
12 |
13,322,704 (GRCm39) |
splice site |
probably benign |
|
IGL02557:Nbas
|
APN |
12 |
13,411,029 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02815:Nbas
|
APN |
12 |
13,360,267 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02951:Nbas
|
APN |
12 |
13,412,542 (GRCm39) |
missense |
probably benign |
|
IGL03131:Nbas
|
APN |
12 |
13,329,417 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03214:Nbas
|
APN |
12 |
13,381,111 (GRCm39) |
splice site |
probably benign |
|
IGL03308:Nbas
|
APN |
12 |
13,374,349 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03368:Nbas
|
APN |
12 |
13,378,452 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03372:Nbas
|
APN |
12 |
13,584,473 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03391:Nbas
|
APN |
12 |
13,533,750 (GRCm39) |
missense |
probably benign |
0.28 |
medvedev
|
UTSW |
12 |
13,584,578 (GRCm39) |
critical splice donor site |
probably null |
|
oligarchs
|
UTSW |
12 |
13,570,751 (GRCm39) |
missense |
possibly damaging |
0.75 |
putin
|
UTSW |
12 |
13,371,756 (GRCm39) |
missense |
probably damaging |
1.00 |
1mM(1):Nbas
|
UTSW |
12 |
13,338,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R0057:Nbas
|
UTSW |
12 |
13,440,958 (GRCm39) |
missense |
probably benign |
0.00 |
R0076:Nbas
|
UTSW |
12 |
13,374,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0153:Nbas
|
UTSW |
12 |
13,323,877 (GRCm39) |
splice site |
probably benign |
|
R0371:Nbas
|
UTSW |
12 |
13,381,096 (GRCm39) |
missense |
probably damaging |
0.97 |
R0449:Nbas
|
UTSW |
12 |
13,569,109 (GRCm39) |
missense |
probably benign |
0.18 |
R0791:Nbas
|
UTSW |
12 |
13,532,634 (GRCm39) |
missense |
probably benign |
0.28 |
R0931:Nbas
|
UTSW |
12 |
13,381,115 (GRCm39) |
splice site |
probably benign |
|
R1236:Nbas
|
UTSW |
12 |
13,319,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R1371:Nbas
|
UTSW |
12 |
13,532,379 (GRCm39) |
splice site |
probably benign |
|
R1567:Nbas
|
UTSW |
12 |
13,335,279 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1587:Nbas
|
UTSW |
12 |
13,608,686 (GRCm39) |
missense |
probably benign |
|
R1719:Nbas
|
UTSW |
12 |
13,610,978 (GRCm39) |
critical splice donor site |
probably null |
|
R1747:Nbas
|
UTSW |
12 |
13,385,899 (GRCm39) |
missense |
probably benign |
0.00 |
R1777:Nbas
|
UTSW |
12 |
13,563,563 (GRCm39) |
missense |
probably benign |
0.16 |
R1848:Nbas
|
UTSW |
12 |
13,463,598 (GRCm39) |
missense |
probably damaging |
0.97 |
R1856:Nbas
|
UTSW |
12 |
13,524,230 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1891:Nbas
|
UTSW |
12 |
13,440,973 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1912:Nbas
|
UTSW |
12 |
13,616,145 (GRCm39) |
missense |
probably benign |
|
R2006:Nbas
|
UTSW |
12 |
13,464,742 (GRCm39) |
splice site |
probably null |
|
R2054:Nbas
|
UTSW |
12 |
13,524,207 (GRCm39) |
missense |
probably benign |
0.36 |
R2065:Nbas
|
UTSW |
12 |
13,616,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R2089:Nbas
|
UTSW |
12 |
13,411,046 (GRCm39) |
missense |
probably benign |
0.03 |
R2091:Nbas
|
UTSW |
12 |
13,411,046 (GRCm39) |
missense |
probably benign |
0.03 |
R2091:Nbas
|
UTSW |
12 |
13,411,046 (GRCm39) |
missense |
probably benign |
0.03 |
R2156:Nbas
|
UTSW |
12 |
13,491,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R2164:Nbas
|
UTSW |
12 |
13,380,647 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2339:Nbas
|
UTSW |
12 |
13,412,593 (GRCm39) |
missense |
probably benign |
0.12 |
R2398:Nbas
|
UTSW |
12 |
13,482,946 (GRCm39) |
missense |
probably damaging |
0.99 |
R3806:Nbas
|
UTSW |
12 |
13,532,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R3855:Nbas
|
UTSW |
12 |
13,329,415 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4019:Nbas
|
UTSW |
12 |
13,532,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R4083:Nbas
|
UTSW |
12 |
13,524,192 (GRCm39) |
missense |
probably damaging |
0.96 |
R4201:Nbas
|
UTSW |
12 |
13,424,827 (GRCm39) |
missense |
probably benign |
0.00 |
R4231:Nbas
|
UTSW |
12 |
13,443,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R4552:Nbas
|
UTSW |
12 |
13,385,938 (GRCm39) |
critical splice donor site |
probably null |
|
R4560:Nbas
|
UTSW |
12 |
13,633,528 (GRCm39) |
missense |
probably benign |
0.00 |
R4728:Nbas
|
UTSW |
12 |
13,338,740 (GRCm39) |
missense |
probably damaging |
0.98 |
R4752:Nbas
|
UTSW |
12 |
13,532,538 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4832:Nbas
|
UTSW |
12 |
13,533,740 (GRCm39) |
missense |
probably benign |
0.00 |
R4874:Nbas
|
UTSW |
12 |
13,371,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R4988:Nbas
|
UTSW |
12 |
13,458,266 (GRCm39) |
missense |
probably benign |
0.45 |
R5020:Nbas
|
UTSW |
12 |
13,424,713 (GRCm39) |
missense |
probably damaging |
0.99 |
R5079:Nbas
|
UTSW |
12 |
13,424,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R5129:Nbas
|
UTSW |
12 |
13,440,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R5239:Nbas
|
UTSW |
12 |
13,491,519 (GRCm39) |
missense |
probably benign |
0.31 |
R5299:Nbas
|
UTSW |
12 |
13,491,926 (GRCm39) |
nonsense |
probably null |
|
R5351:Nbas
|
UTSW |
12 |
13,610,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R5389:Nbas
|
UTSW |
12 |
13,584,578 (GRCm39) |
critical splice donor site |
probably null |
|
R5436:Nbas
|
UTSW |
12 |
13,424,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R5654:Nbas
|
UTSW |
12 |
13,633,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R5690:Nbas
|
UTSW |
12 |
13,386,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R5842:Nbas
|
UTSW |
12 |
13,319,267 (GRCm39) |
critical splice donor site |
probably null |
|
R5959:Nbas
|
UTSW |
12 |
13,338,802 (GRCm39) |
missense |
probably damaging |
0.99 |
R5982:Nbas
|
UTSW |
12 |
13,443,431 (GRCm39) |
missense |
probably benign |
0.00 |
R6238:Nbas
|
UTSW |
12 |
13,532,596 (GRCm39) |
missense |
probably benign |
|
R6270:Nbas
|
UTSW |
12 |
13,374,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R6363:Nbas
|
UTSW |
12 |
13,532,577 (GRCm39) |
missense |
probably benign |
|
R6424:Nbas
|
UTSW |
12 |
13,465,734 (GRCm39) |
critical splice donor site |
probably null |
|
R6458:Nbas
|
UTSW |
12 |
13,338,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R6526:Nbas
|
UTSW |
12 |
13,455,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R6654:Nbas
|
UTSW |
12 |
13,533,875 (GRCm39) |
nonsense |
probably null |
|
R7085:Nbas
|
UTSW |
12 |
13,335,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R7179:Nbas
|
UTSW |
12 |
13,455,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7197:Nbas
|
UTSW |
12 |
13,570,751 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7378:Nbas
|
UTSW |
12 |
13,324,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R7393:Nbas
|
UTSW |
12 |
13,443,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R7425:Nbas
|
UTSW |
12 |
13,519,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R7446:Nbas
|
UTSW |
12 |
13,443,499 (GRCm39) |
missense |
probably benign |
0.02 |
R7481:Nbas
|
UTSW |
12 |
13,406,960 (GRCm39) |
missense |
probably damaging |
0.97 |
R7535:Nbas
|
UTSW |
12 |
13,329,390 (GRCm39) |
missense |
probably damaging |
0.97 |
R7626:Nbas
|
UTSW |
12 |
13,608,661 (GRCm39) |
missense |
probably benign |
0.00 |
R7678:Nbas
|
UTSW |
12 |
13,465,662 (GRCm39) |
missense |
probably damaging |
0.97 |
R7912:Nbas
|
UTSW |
12 |
13,455,458 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7964:Nbas
|
UTSW |
12 |
13,406,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R8193:Nbas
|
UTSW |
12 |
13,483,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R8325:Nbas
|
UTSW |
12 |
13,338,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R8405:Nbas
|
UTSW |
12 |
13,329,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R8437:Nbas
|
UTSW |
12 |
13,616,251 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8559:Nbas
|
UTSW |
12 |
13,402,809 (GRCm39) |
missense |
probably benign |
0.00 |
R8684:Nbas
|
UTSW |
12 |
13,386,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R8826:Nbas
|
UTSW |
12 |
13,402,875 (GRCm39) |
splice site |
probably benign |
|
R8921:Nbas
|
UTSW |
12 |
13,463,590 (GRCm39) |
missense |
probably benign |
|
R8956:Nbas
|
UTSW |
12 |
13,482,923 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9083:Nbas
|
UTSW |
12 |
13,385,856 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9172:Nbas
|
UTSW |
12 |
13,424,751 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9430:Nbas
|
UTSW |
12 |
13,371,654 (GRCm39) |
missense |
probably benign |
0.35 |
R9627:Nbas
|
UTSW |
12 |
13,350,203 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9649:Nbas
|
UTSW |
12 |
13,633,417 (GRCm39) |
missense |
probably damaging |
1.00 |
RF013:Nbas
|
UTSW |
12 |
13,329,409 (GRCm39) |
missense |
possibly damaging |
0.54 |
T0722:Nbas
|
UTSW |
12 |
13,402,809 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Nbas
|
UTSW |
12 |
13,533,877 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAGATGTCCATTTCATTTGTAGGG -3'
(R):5'- TTCGGGTGAAGATCAAAGCAC -3'
Sequencing Primer
(F):5'- CTCTGAGAATCCGAGTAGATTATCCC -3'
(R):5'- GTGAAGATCAAAGCACTGCATTC -3'
|
Posted On |
2014-06-30 |