Incidental Mutation 'R1912:Nbas'
ID |
210430 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nbas
|
Ensembl Gene |
ENSMUSG00000020576 |
Gene Name |
neuroblastoma amplified sequence |
Synonyms |
4933425L03Rik |
MMRRC Submission |
039930-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1912 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 95.3%
- 20x: 92.8%
|
Validation Efficiency |
|
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: 122 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
A |
G |
7: 12,288,582 (GRCm39) |
M132V |
probably benign |
Het |
4921524L21Rik |
T |
A |
18: 6,620,205 (GRCm39) |
I45N |
possibly damaging |
Het |
Abcb6 |
A |
G |
1: 75,156,599 (GRCm39) |
V55A |
probably benign |
Het |
Adam28 |
A |
T |
14: 68,881,780 (GRCm39) |
D105E |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,995,245 (GRCm39) |
S5510P |
probably damaging |
Het |
Aldh3b1 |
T |
G |
19: 3,971,187 (GRCm39) |
D159A |
probably damaging |
Het |
Alx1 |
A |
G |
10: 102,861,222 (GRCm39) |
L102P |
probably damaging |
Het |
Ankrd50 |
C |
T |
3: 38,510,925 (GRCm39) |
V481I |
probably benign |
Het |
Aox4 |
G |
T |
1: 58,303,561 (GRCm39) |
G1200W |
probably damaging |
Het |
Arhgap45 |
A |
C |
10: 79,856,524 (GRCm39) |
D24A |
probably benign |
Het |
Arhgef16 |
A |
T |
4: 154,364,780 (GRCm39) |
|
probably null |
Het |
Asic4 |
A |
T |
1: 75,445,876 (GRCm39) |
Y235F |
possibly damaging |
Het |
Asph |
T |
C |
4: 9,453,335 (GRCm39) |
E646G |
probably damaging |
Het |
Atg4d |
A |
G |
9: 21,183,935 (GRCm39) |
D350G |
probably damaging |
Het |
Auts2 |
T |
C |
5: 131,472,412 (GRCm39) |
T347A |
probably damaging |
Het |
Bsnd |
A |
T |
4: 106,345,227 (GRCm39) |
L73* |
probably null |
Het |
Cachd1 |
A |
T |
4: 100,810,366 (GRCm39) |
S323C |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,312,195 (GRCm39) |
I1290T |
probably damaging |
Het |
Cdh8 |
T |
A |
8: 99,825,502 (GRCm39) |
N498Y |
probably damaging |
Het |
Cdkn3 |
A |
G |
14: 47,007,291 (GRCm39) |
|
probably null |
Het |
Celf2 |
A |
T |
2: 6,620,564 (GRCm39) |
M40K |
probably damaging |
Het |
Cfap57 |
A |
C |
4: 118,472,207 (GRCm39) |
S57R |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,063,879 (GRCm39) |
|
probably null |
Het |
Chdh |
A |
G |
14: 29,754,745 (GRCm39) |
S252G |
probably benign |
Het |
Col8a1 |
T |
A |
16: 57,448,287 (GRCm39) |
I408F |
unknown |
Het |
Corin |
C |
T |
5: 72,515,746 (GRCm39) |
C303Y |
probably damaging |
Het |
Crlf2 |
C |
T |
5: 109,705,007 (GRCm39) |
C66Y |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,284,012 (GRCm39) |
|
probably null |
Het |
Cyp4f16 |
T |
C |
17: 32,764,018 (GRCm39) |
V270A |
probably damaging |
Het |
Defa29 |
T |
A |
8: 21,816,028 (GRCm39) |
H113L |
possibly damaging |
Het |
Dhx35 |
A |
T |
2: 158,684,227 (GRCm39) |
N501Y |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,522,716 (GRCm39) |
E55G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,330,931 (GRCm39) |
R4690G |
probably damaging |
Het |
Elac2 |
T |
A |
11: 64,885,089 (GRCm39) |
D439E |
probably benign |
Het |
Ercc6 |
A |
G |
14: 32,298,760 (GRCm39) |
R1383G |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,881,284 (GRCm39) |
Y3196F |
probably damaging |
Het |
Fbxw13 |
A |
T |
9: 109,010,611 (GRCm39) |
D342E |
probably benign |
Het |
Fmod |
A |
G |
1: 133,968,458 (GRCm39) |
N166S |
possibly damaging |
Het |
Folh1 |
A |
G |
7: 86,412,175 (GRCm39) |
S199P |
possibly damaging |
Het |
Fv1 |
A |
G |
4: 147,954,235 (GRCm39) |
N267S |
possibly damaging |
Het |
Fyn |
T |
C |
10: 39,402,828 (GRCm39) |
V200A |
possibly damaging |
Het |
Gfus |
A |
T |
15: 75,797,498 (GRCm39) |
D278E |
possibly damaging |
Het |
Ggnbp2 |
T |
C |
11: 84,753,122 (GRCm39) |
N39S |
probably benign |
Het |
Gm10509 |
A |
T |
17: 21,909,831 (GRCm39) |
I53F |
possibly damaging |
Het |
Gpr139 |
A |
T |
7: 118,744,102 (GRCm39) |
I161N |
possibly damaging |
Het |
Grhl2 |
C |
T |
15: 37,358,651 (GRCm39) |
T148I |
probably damaging |
Het |
Hmcn1 |
C |
A |
1: 150,480,633 (GRCm39) |
M4514I |
probably benign |
Het |
Igsf10 |
T |
G |
3: 59,236,993 (GRCm39) |
T1063P |
probably benign |
Het |
Itgav |
A |
G |
2: 83,625,830 (GRCm39) |
Y792C |
possibly damaging |
Het |
Itgb2l |
T |
C |
16: 96,228,135 (GRCm39) |
Q456R |
probably benign |
Het |
Jph4 |
G |
A |
14: 55,345,818 (GRCm39) |
A613V |
probably benign |
Het |
Kcna2 |
A |
G |
3: 107,012,717 (GRCm39) |
T433A |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,697,393 (GRCm39) |
K97R |
probably benign |
Het |
Krba1 |
C |
A |
6: 48,392,699 (GRCm39) |
A871E |
probably benign |
Het |
Loxhd1 |
T |
C |
18: 77,427,833 (GRCm39) |
F468L |
probably benign |
Het |
Lpin1 |
A |
G |
12: 16,596,728 (GRCm39) |
V713A |
probably damaging |
Het |
Ltbp2 |
T |
A |
12: 84,832,637 (GRCm39) |
I67F |
probably damaging |
Het |
Mdc1 |
G |
A |
17: 36,155,430 (GRCm39) |
R35H |
probably benign |
Het |
Mdc1 |
A |
G |
17: 36,161,703 (GRCm39) |
D872G |
probably benign |
Het |
Mgam |
C |
T |
6: 40,741,119 (GRCm39) |
Q959* |
probably null |
Het |
Mttp |
T |
A |
3: 137,821,788 (GRCm39) |
T260S |
probably benign |
Het |
Naalad2 |
A |
T |
9: 18,287,831 (GRCm39) |
D266E |
probably benign |
Het |
Nans |
T |
A |
4: 46,500,162 (GRCm39) |
L182H |
probably damaging |
Het |
Nfix |
A |
T |
8: 85,448,306 (GRCm39) |
V407E |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,579,306 (GRCm39) |
|
probably benign |
Het |
Nlrp10 |
G |
A |
7: 108,524,602 (GRCm39) |
R293* |
probably null |
Het |
Nrxn3 |
T |
C |
12: 88,762,112 (GRCm39) |
F53S |
probably damaging |
Het |
Or11h4 |
G |
A |
14: 50,974,235 (GRCm39) |
P128L |
probably damaging |
Het |
Or12e7 |
T |
C |
2: 87,287,727 (GRCm39) |
S73P |
probably damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,820 (GRCm39) |
F73I |
probably damaging |
Het |
Or2f2 |
T |
C |
6: 42,767,411 (GRCm39) |
I146T |
probably benign |
Het |
Or3a1c |
T |
C |
11: 74,046,711 (GRCm39) |
C244R |
probably damaging |
Het |
Or5ak24 |
T |
A |
2: 85,260,604 (GRCm39) |
N190Y |
probably damaging |
Het |
Or5p68 |
A |
G |
7: 107,946,014 (GRCm39) |
L58P |
probably damaging |
Het |
Or6d12 |
A |
G |
6: 116,492,950 (GRCm39) |
T71A |
probably benign |
Het |
Oxld1 |
A |
G |
11: 120,347,732 (GRCm39) |
V155A |
probably damaging |
Het |
Pamr1 |
T |
A |
2: 102,472,645 (GRCm39) |
F648Y |
probably damaging |
Het |
Parg |
T |
C |
14: 31,932,497 (GRCm39) |
W446R |
probably damaging |
Het |
Pate13 |
A |
T |
9: 35,819,915 (GRCm39) |
T23S |
probably benign |
Het |
Phf3 |
A |
T |
1: 30,843,426 (GRCm39) |
H1844Q |
probably damaging |
Het |
Phf7 |
T |
C |
14: 30,962,281 (GRCm39) |
I175V |
possibly damaging |
Het |
Pibf1 |
G |
A |
14: 99,425,245 (GRCm39) |
|
probably null |
Het |
Plcxd1 |
A |
G |
5: 110,251,308 (GRCm39) |
I295V |
probably benign |
Het |
Pole2 |
A |
C |
12: 69,256,764 (GRCm39) |
Y254D |
probably damaging |
Het |
Ppm1e |
T |
A |
11: 87,135,196 (GRCm39) |
I225F |
probably benign |
Het |
Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,230,342 (GRCm39) |
D1129E |
possibly damaging |
Het |
Rnase2b |
T |
G |
14: 51,400,357 (GRCm39) |
V146G |
probably damaging |
Het |
Rnf169 |
G |
A |
7: 99,575,461 (GRCm39) |
T378I |
probably damaging |
Het |
Rpf2 |
A |
G |
10: 40,112,197 (GRCm39) |
F80L |
probably benign |
Het |
Sec11c |
T |
A |
18: 65,947,945 (GRCm39) |
D128E |
probably damaging |
Het |
Septin12 |
A |
G |
16: 4,806,417 (GRCm39) |
V248A |
probably damaging |
Het |
Serinc1 |
T |
C |
10: 57,401,547 (GRCm39) |
N82S |
probably benign |
Het |
Serpina9 |
A |
C |
12: 103,967,508 (GRCm39) |
W296G |
probably damaging |
Het |
Sgo2b |
A |
C |
8: 64,384,503 (GRCm39) |
D164E |
probably damaging |
Het |
Slc15a3 |
A |
G |
19: 10,825,977 (GRCm39) |
N223D |
probably damaging |
Het |
Slc44a3 |
A |
G |
3: 121,325,815 (GRCm39) |
Y12H |
probably benign |
Het |
Slco3a1 |
A |
G |
7: 74,154,359 (GRCm39) |
F42S |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Snx7 |
A |
T |
3: 117,623,317 (GRCm39) |
|
probably null |
Het |
Sorl1 |
A |
T |
9: 41,993,246 (GRCm39) |
D259E |
probably damaging |
Het |
Stpg2 |
G |
A |
3: 139,228,742 (GRCm39) |
|
probably null |
Het |
Strn |
T |
A |
17: 78,991,824 (GRCm39) |
Y165F |
probably damaging |
Het |
Sval2 |
T |
A |
6: 41,841,254 (GRCm39) |
*106R |
probably null |
Het |
Tcaf3 |
A |
G |
6: 42,573,622 (GRCm39) |
S197P |
possibly damaging |
Het |
Tespa1 |
C |
A |
10: 130,190,592 (GRCm39) |
T73N |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Thoc5 |
C |
A |
11: 4,865,561 (GRCm39) |
T380K |
probably benign |
Het |
Tmprss7 |
T |
A |
16: 45,476,911 (GRCm39) |
R784* |
probably null |
Het |
Trank1 |
A |
T |
9: 111,219,777 (GRCm39) |
L2171F |
probably benign |
Het |
Trpm2 |
T |
G |
10: 77,781,710 (GRCm39) |
K303T |
probably benign |
Het |
Unc80 |
G |
A |
1: 66,549,784 (GRCm39) |
V681M |
probably damaging |
Het |
Usp40 |
A |
G |
1: 87,874,368 (GRCm39) |
F1131L |
probably benign |
Het |
Vmn1r215 |
A |
T |
13: 23,260,673 (GRCm39) |
I238F |
possibly damaging |
Het |
Vwa3a |
A |
T |
7: 120,394,850 (GRCm39) |
Y890F |
probably damaging |
Het |
Zdhhc18 |
A |
G |
4: 133,341,171 (GRCm39) |
L234P |
probably damaging |
Het |
Zfp109 |
A |
G |
7: 23,927,676 (GRCm39) |
S578P |
probably damaging |
Het |
Zfp704 |
T |
C |
3: 9,674,418 (GRCm39) |
D121G |
unknown |
Het |
Zgrf1 |
G |
T |
3: 127,356,786 (GRCm39) |
V671L |
probably benign |
Het |
Zkscan8 |
A |
T |
13: 21,704,927 (GRCm39) |
C265* |
probably null |
Het |
Zscan26 |
T |
C |
13: 21,629,310 (GRCm39) |
I398V |
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 |
R1911: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'- AGAGATGTCCATTTCATTTGTAGGG -3'
(R):5'- TCGGGTGAAGATCAAAGCAC -3'
Sequencing Primer
(F):5'- CTCTGAGAATCCGAGTAGATTATCCC -3'
(R):5'- GTGAAGATCAAAGCACTGCATTC -3'
|
Posted On |
2014-06-30 |