Incidental Mutation 'R5436:Nbas'
| ID |
428373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbas
|
| Ensembl Gene |
ENSMUSG00000020576 |
| Gene Name |
neuroblastoma amplified sequence |
| Synonyms |
4933425L03Rik |
| MMRRC Submission |
043001-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
13319134-13633812 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 13424812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 1017
(L1017R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042953]
|
| AlphaFold |
E9Q411 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042953
AA Change: L1017R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: L1017R
| 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 |
|
| Meta Mutation Damage Score |
0.7425 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (106/107) |
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
C |
3: 59,754,114 (GRCm39) |
|
noncoding transcript |
Het |
| Abca9 |
G |
A |
11: 110,025,062 (GRCm39) |
L994F |
probably damaging |
Het |
| Abl2 |
A |
T |
1: 156,457,450 (GRCm39) |
S239C |
probably damaging |
Het |
| Acsl5 |
T |
A |
19: 55,267,997 (GRCm39) |
|
probably null |
Het |
| Aff1 |
C |
T |
5: 103,931,736 (GRCm39) |
T126I |
probably damaging |
Het |
| Amtn |
T |
C |
5: 88,529,485 (GRCm39) |
L107P |
probably damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,986,682 (GRCm39) |
|
probably benign |
Het |
| Arl6ip5 |
G |
A |
6: 97,187,887 (GRCm39) |
V36I |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,535,079 (GRCm39) |
D657E |
probably damaging |
Het |
| Ascl1 |
T |
A |
10: 87,328,808 (GRCm39) |
Q48L |
unknown |
Het |
| Asic4 |
T |
A |
1: 75,427,963 (GRCm39) |
V163E |
probably benign |
Het |
| Atm |
A |
T |
9: 53,371,104 (GRCm39) |
M2245K |
probably benign |
Het |
| Barx2 |
T |
G |
9: 31,824,285 (GRCm39) |
T35P |
probably damaging |
Het |
| Bdh1 |
C |
T |
16: 31,275,475 (GRCm39) |
R235C |
probably damaging |
Het |
| C8b |
T |
A |
4: 104,657,546 (GRCm39) |
Y404* |
probably null |
Het |
| Car5a |
A |
G |
8: 122,643,981 (GRCm39) |
|
probably benign |
Het |
| Ccdc13 |
T |
C |
9: 121,628,109 (GRCm39) |
I169M |
probably benign |
Het |
| Cd163 |
A |
T |
6: 124,304,923 (GRCm39) |
D1100V |
probably benign |
Het |
| Cimap2 |
A |
T |
4: 106,467,690 (GRCm39) |
H315Q |
probably benign |
Het |
| Cntfr |
T |
C |
4: 41,663,322 (GRCm39) |
N162D |
probably damaging |
Het |
| Cops3 |
T |
G |
11: 59,715,171 (GRCm39) |
D289A |
probably damaging |
Het |
| Crbn |
A |
T |
6: 106,772,861 (GRCm39) |
S42R |
probably damaging |
Het |
| Cth |
T |
A |
3: 157,600,463 (GRCm39) |
H397L |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,416,010 (GRCm39) |
L730P |
probably damaging |
Het |
| Dhx37 |
C |
T |
5: 125,506,867 (GRCm39) |
G210R |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,606,419 (GRCm39) |
K415N |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,038,704 (GRCm39) |
I126V |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,072,418 (GRCm39) |
I566T |
probably damaging |
Het |
| Ehbp1l1 |
G |
T |
19: 5,766,276 (GRCm39) |
R412S |
possibly damaging |
Het |
| Fam110b |
A |
C |
4: 5,799,104 (GRCm39) |
Q174P |
probably benign |
Het |
| Fam149a |
A |
T |
8: 45,801,508 (GRCm39) |
S457T |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,871,810 (GRCm39) |
V3527G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,945,495 (GRCm39) |
M1463V |
probably benign |
Het |
| Gak |
T |
A |
5: 108,740,218 (GRCm39) |
I566F |
possibly damaging |
Het |
| Gdf10 |
T |
A |
14: 33,654,213 (GRCm39) |
I240N |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,502,798 (GRCm39) |
H355L |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,145,780 (GRCm39) |
K338R |
probably damaging |
Het |
| Hexim2 |
A |
T |
11: 103,029,095 (GRCm39) |
E49V |
probably null |
Het |
| Hfm1 |
T |
C |
5: 107,040,638 (GRCm39) |
D709G |
possibly damaging |
Het |
| Ighv1-49 |
T |
C |
12: 115,019,081 (GRCm39) |
K19R |
probably damaging |
Het |
| Il17a |
T |
A |
1: 20,803,870 (GRCm39) |
Y88* |
probably null |
Het |
| Iqsec1 |
A |
T |
6: 90,822,343 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,110,007 (GRCm39) |
D582G |
probably benign |
Het |
| Klc3 |
T |
C |
7: 19,131,884 (GRCm39) |
|
probably null |
Het |
| Larp4 |
T |
A |
15: 99,883,995 (GRCm39) |
N78K |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,218,936 (GRCm39) |
D526G |
possibly damaging |
Het |
| Limch1 |
T |
C |
5: 67,131,909 (GRCm39) |
V133A |
possibly damaging |
Het |
| Lmbr1l |
G |
A |
15: 98,802,672 (GRCm39) |
R426C |
probably damaging |
Het |
| Lox |
T |
A |
18: 52,662,175 (GRCm39) |
D76V |
probably benign |
Het |
| Lrrc8d |
T |
A |
5: 105,960,418 (GRCm39) |
I276N |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Marchf10 |
A |
T |
11: 105,292,991 (GRCm39) |
Y139N |
possibly damaging |
Het |
| Mrc1 |
T |
G |
2: 14,271,326 (GRCm39) |
I410S |
probably damaging |
Het |
| Mrto4 |
A |
T |
4: 139,075,276 (GRCm39) |
C176S |
probably damaging |
Het |
| Mtch1 |
G |
T |
17: 29,566,564 (GRCm39) |
D66E |
probably benign |
Het |
| Nherf4 |
A |
G |
9: 44,159,652 (GRCm39) |
V448A |
possibly damaging |
Het |
| Nim1k |
A |
G |
13: 120,189,065 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
T |
A |
7: 140,502,630 (GRCm39) |
Y245* |
probably null |
Het |
| Or11g7 |
T |
G |
14: 50,691,184 (GRCm39) |
V225G |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,763 (GRCm39) |
H136L |
probably benign |
Het |
| Or4c3 |
T |
A |
2: 89,852,009 (GRCm39) |
M134L |
probably benign |
Het |
| Or51q1 |
A |
T |
7: 103,628,473 (GRCm39) |
I25F |
probably benign |
Het |
| Or5h24 |
C |
T |
16: 58,919,182 (GRCm39) |
V58I |
unknown |
Het |
| Or8b1 |
A |
C |
9: 38,399,835 (GRCm39) |
D170A |
probably benign |
Het |
| Pcare |
A |
T |
17: 72,057,837 (GRCm39) |
S613R |
probably damaging |
Het |
| Pcnx1 |
G |
T |
12: 81,907,180 (GRCm39) |
G12V |
probably damaging |
Het |
| Pkp1 |
T |
A |
1: 135,846,656 (GRCm39) |
K32M |
probably damaging |
Het |
| Poc5 |
T |
C |
13: 96,533,321 (GRCm39) |
W150R |
probably damaging |
Het |
| Ppp1r16b |
T |
A |
2: 158,599,253 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 16,998,007 (GRCm39) |
M248K |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,450,580 (GRCm39) |
|
probably null |
Het |
| Rhod |
A |
G |
19: 4,476,615 (GRCm39) |
C169R |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,010,983 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
G |
A |
3: 113,418,648 (GRCm39) |
A100V |
probably damaging |
Het |
| Rsf1 |
GCGGC |
GCGGCGGCGTCGGC |
7: 97,229,138 (GRCm39) |
|
probably benign |
Het |
| Scnn1a |
A |
T |
6: 125,319,985 (GRCm39) |
D528V |
possibly damaging |
Het |
| Sdhaf3 |
C |
A |
6: 7,038,855 (GRCm39) |
T59K |
probably benign |
Het |
| Sec31a |
C |
A |
5: 100,511,698 (GRCm39) |
A330S |
probably damaging |
Het |
| Sgk3 |
A |
G |
1: 9,952,097 (GRCm39) |
D241G |
probably damaging |
Het |
| Skint6 |
T |
G |
4: 112,953,788 (GRCm39) |
I459L |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,200,118 (GRCm39) |
V222E |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,598,738 (GRCm39) |
N1447K |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,249,038 (GRCm39) |
H628R |
probably damaging |
Het |
| St6galnac2 |
A |
G |
11: 116,575,353 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,816,267 (GRCm39) |
V667A |
probably benign |
Het |
| Tbx20 |
A |
T |
9: 24,681,016 (GRCm39) |
Y159N |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,810,092 (GRCm39) |
Q296L |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,721,380 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,701,243 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,018,617 (GRCm39) |
L340H |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,024,663 (GRCm39) |
F613I |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,589,650 (GRCm39) |
Y377C |
probably damaging |
Het |
| Utp15 |
G |
A |
13: 98,397,354 (GRCm39) |
|
probably null |
Het |
| Vstm2b |
A |
G |
7: 40,550,707 (GRCm39) |
|
probably null |
Het |
| Vwde |
A |
T |
6: 13,190,627 (GRCm39) |
V488D |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
T |
8: 123,992,021 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,723,975 (GRCm39) |
S1993T |
possibly damaging |
Het |
| Zfp959 |
T |
C |
17: 56,204,626 (GRCm39) |
L218P |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,347,542 (GRCm39) |
D301G |
probably 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 |
|
|
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 |
|
|
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'- CTTTGGCTGATTAATGGCACTG -3'
(R):5'- CAAGGCCACGTGAATATAGAGCAC -3'
Sequencing Primer
(F):5'- CTATTGAAAGTGGTACTGGGATATG -3'
(R):5'- CGTGAATATAGAGCACTCACCC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation