Incidental Mutation 'R4832:Nbas'
| ID |
372925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbas
|
| Ensembl Gene |
ENSMUSG00000020576 |
| Gene Name |
neuroblastoma amplified sequence |
| Synonyms |
4933425L03Rik |
| MMRRC Submission |
042448-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4832 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
13319134-13633812 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13533740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1792
(S1792G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042953]
|
| AlphaFold |
E9Q411 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042953
AA Change: S1792G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000036082
Gene: ENSMUSG00000020576
AA Change: S1792G
| 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: ENSMUST00000222785
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223081
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (106/108) |
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
T |
C |
3: 68,777,597 (GRCm39) |
V186A |
possibly damaging |
Het |
| 1700088E04Rik |
A |
T |
15: 79,019,409 (GRCm39) |
M198K |
probably damaging |
Het |
| 4933402J07Rik |
A |
G |
8: 88,294,601 (GRCm39) |
K84R |
probably null |
Het |
| Aamdc |
T |
C |
7: 97,199,773 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,617,282 (GRCm39) |
V594A |
probably damaging |
Het |
| Adamts13 |
G |
A |
2: 26,879,414 (GRCm39) |
D656N |
probably benign |
Het |
| Adcy10 |
G |
T |
1: 165,334,213 (GRCm39) |
C122F |
probably damaging |
Het |
| Adi1 |
A |
G |
12: 28,725,252 (GRCm39) |
M1V |
probably null |
Het |
| Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
| Akt1 |
G |
T |
12: 112,623,521 (GRCm39) |
P313Q |
probably damaging |
Het |
| Ano3 |
A |
T |
2: 110,498,067 (GRCm39) |
M758K |
probably damaging |
Het |
| Baz2a |
T |
A |
10: 127,958,999 (GRCm39) |
N1168K |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bcap29 |
A |
G |
12: 31,674,202 (GRCm39) |
I131T |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,694,616 (GRCm39) |
L1626I |
possibly damaging |
Het |
| Btnl6 |
T |
C |
17: 34,732,966 (GRCm39) |
D299G |
possibly damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,222,524 (GRCm39) |
I73T |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,760,754 (GRCm39) |
S538P |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,803,390 (GRCm39) |
M1551L |
probably benign |
Het |
| Chd2 |
G |
A |
7: 73,151,873 (GRCm39) |
A243V |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,845 (GRCm39) |
N665K |
probably damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,360,749 (GRCm39) |
T262I |
possibly damaging |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,098 (GRCm39) |
I149V |
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,534,970 (GRCm39) |
|
probably null |
Het |
| Dab2 |
A |
G |
15: 6,366,080 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
A |
11: 117,917,606 (GRCm39) |
I4158F |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,385,975 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
A |
T |
2: 25,242,398 (GRCm39) |
|
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,780,776 (GRCm39) |
I642F |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,369,397 (GRCm39) |
S415G |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,530,683 (GRCm39) |
T439A |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,466,102 (GRCm39) |
V1431M |
possibly damaging |
Het |
| Fhod3 |
G |
A |
18: 25,223,305 (GRCm39) |
A884T |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,515 (GRCm39) |
D5416G |
possibly damaging |
Het |
| Gabarap |
C |
T |
11: 69,882,678 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
T |
C |
7: 33,938,333 (GRCm39) |
|
probably benign |
Het |
| Gm11544 |
C |
T |
11: 94,736,532 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
A |
C |
3: 108,007,964 (GRCm39) |
K304Q |
probably benign |
Het |
| Gpr141b |
T |
A |
13: 19,913,840 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd4 |
C |
T |
15: 86,019,057 (GRCm39) |
A575V |
probably benign |
Het |
| Gtpbp10 |
G |
A |
5: 5,589,295 (GRCm39) |
A274V |
possibly damaging |
Het |
| Gzmb |
A |
G |
14: 56,497,679 (GRCm39) |
I187T |
probably damaging |
Het |
| H2-M10.2 |
G |
A |
17: 36,595,219 (GRCm39) |
T315I |
probably damaging |
Het |
| Haus5 |
A |
T |
7: 30,356,452 (GRCm39) |
F524I |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,403,253 (GRCm39) |
S4391G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,748,165 (GRCm39) |
L511* |
probably null |
Het |
| Htt |
T |
A |
5: 34,982,184 (GRCm39) |
C923S |
probably benign |
Het |
| Idua |
T |
C |
5: 108,817,247 (GRCm39) |
S7P |
probably benign |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,466 (GRCm39) |
L112Q |
probably damaging |
Het |
| Igkv1-110 |
A |
G |
6: 68,248,185 (GRCm39) |
K98R |
probably benign |
Het |
| Kif15 |
G |
A |
9: 122,831,191 (GRCm39) |
|
probably null |
Het |
| Leng9 |
C |
A |
7: 4,152,029 (GRCm39) |
G216W |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,014,584 (GRCm39) |
L1306S |
probably benign |
Het |
| Lztfl1 |
C |
A |
9: 123,544,454 (GRCm39) |
E20D |
possibly damaging |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Map3k4 |
C |
T |
17: 12,490,667 (GRCm39) |
E255K |
probably damaging |
Het |
| Megf9 |
G |
A |
4: 70,452,665 (GRCm39) |
T132M |
probably damaging |
Het |
| Mob4 |
T |
C |
1: 55,184,411 (GRCm39) |
|
probably benign |
Het |
| Mttp |
G |
A |
3: 137,821,811 (GRCm39) |
A252V |
probably benign |
Het |
| Mxi1 |
A |
G |
19: 53,358,745 (GRCm39) |
D226G |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,274,566 (GRCm39) |
S1249P |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,742,737 (GRCm39) |
G1083D |
probably benign |
Het |
| Mylk4 |
T |
G |
13: 32,905,960 (GRCm39) |
I408L |
probably benign |
Het |
| Nelfb |
A |
G |
2: 25,099,981 (GRCm39) |
V212A |
probably damaging |
Het |
| Nisch |
T |
C |
14: 30,899,587 (GRCm39) |
|
probably benign |
Het |
| Nqo1 |
C |
G |
8: 108,115,477 (GRCm39) |
D267H |
probably benign |
Het |
| Or8u10 |
C |
A |
2: 85,915,190 (GRCm39) |
L310F |
probably benign |
Het |
| Pcid2 |
T |
A |
8: 13,135,425 (GRCm39) |
I195F |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,478,927 (GRCm39) |
M2107K |
probably damaging |
Het |
| Pgd |
A |
T |
4: 149,241,048 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
T |
C |
1: 33,503,145 (GRCm39) |
M430V |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,190,101 (GRCm39) |
T40A |
probably damaging |
Het |
| Ptges |
T |
C |
2: 30,793,232 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
T |
C |
1: 75,234,909 (GRCm39) |
E226G |
probably benign |
Het |
| Rab14 |
A |
G |
2: 35,079,978 (GRCm39) |
F55S |
probably damaging |
Het |
| Ralgps2 |
A |
T |
1: 156,684,637 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
C |
T |
17: 26,426,542 (GRCm39) |
H258Y |
probably benign |
Het |
| Rhpn2 |
T |
C |
7: 35,075,774 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
A |
T |
3: 95,681,483 (GRCm39) |
V452E |
probably damaging |
Het |
| Scube3 |
C |
A |
17: 28,384,989 (GRCm39) |
H646Q |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,953,909 (GRCm39) |
I70F |
probably damaging |
Het |
| Septin2 |
A |
G |
1: 93,426,849 (GRCm39) |
I153V |
probably damaging |
Het |
| Sh3rf3 |
G |
A |
10: 58,649,905 (GRCm39) |
S170N |
probably benign |
Het |
| Skint4 |
A |
T |
4: 112,000,963 (GRCm39) |
I353F |
possibly damaging |
Het |
| Slc16a12 |
A |
G |
19: 34,657,780 (GRCm39) |
I41T |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,881 (GRCm39) |
F129S |
probably damaging |
Het |
| Top3b |
C |
T |
16: 16,708,526 (GRCm39) |
R629* |
probably null |
Het |
| Trim17 |
T |
A |
11: 58,862,270 (GRCm39) |
V434E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,615,327 (GRCm39) |
P15051L |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,239,259 (GRCm39) |
I1391N |
probably damaging |
Het |
| Usp8 |
A |
T |
2: 126,596,958 (GRCm39) |
M923L |
probably damaging |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,463 (GRCm39) |
H230R |
possibly damaging |
Het |
| Vmn1r217 |
C |
A |
13: 23,298,159 (GRCm39) |
D248Y |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,363,976 (GRCm39) |
C647S |
probably damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,332,851 (GRCm39) |
I237T |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,391,423 (GRCm39) |
D4687V |
unknown |
Het |
| Zfp273 |
T |
C |
13: 67,973,484 (GRCm39) |
V204A |
probably benign |
Het |
| Zfp956 |
T |
G |
6: 47,928,987 (GRCm39) |
|
probably benign |
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 |
|
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'- GAATGACGTGGGATTGCAC -3'
(R):5'- AGGCAGACATCACAGGCATG -3'
Sequencing Primer
(F):5'- ACGTGGGATTGCACAGCTC -3'
(R):5'- CATGAAGCCACTCTGCGGAAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation