Incidental Mutation 'R7432:Nsd1'
| ID |
576584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsd1
|
| Ensembl Gene |
ENSMUSG00000021488 |
| Gene Name |
nuclear receptor-binding SET-domain protein 1 |
| Synonyms |
KMT3B |
| MMRRC Submission |
045510-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7432 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55357595-55466138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55361187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 52
(T52A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099490]
[ENSMUST00000224156]
[ENSMUST00000224693]
[ENSMUST00000224918]
[ENSMUST00000224973]
[ENSMUST00000225169]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099490
AA Change: T52A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488
AA Change: T52A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
177 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
289 |
N/A |
INTRINSIC |
|
PWWP
|
322 |
388 |
1.97e-3 |
SMART |
|
low complexity region
|
635 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
1000 |
N/A |
INTRINSIC |
|
low complexity region
|
1296 |
1309 |
N/A |
INTRINSIC |
|
PHD
|
1546 |
1588 |
4.25e-8 |
SMART |
|
PHD
|
1593 |
1640 |
3.79e-5 |
SMART |
|
RING
|
1594 |
1639 |
1.08e-1 |
SMART |
|
PHD
|
1641 |
1694 |
1.09e1 |
SMART |
|
PHD
|
1710 |
1750 |
1.02e-10 |
SMART |
|
PWWP
|
1755 |
1817 |
8.87e-29 |
SMART |
|
AWS
|
1891 |
1942 |
3.02e-22 |
SMART |
|
SET
|
1943 |
2066 |
1e-45 |
SMART |
|
PostSET
|
2067 |
2083 |
3.99e-3 |
SMART |
|
PHD
|
2121 |
2164 |
1.08e-9 |
SMART |
|
low complexity region
|
2224 |
2237 |
N/A |
INTRINSIC |
|
low complexity region
|
2276 |
2286 |
N/A |
INTRINSIC |
|
low complexity region
|
2335 |
2356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224156
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224693
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224918
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224973
AA Change: T52A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225169
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,468,839 (GRCm39) |
I31V |
probably benign |
Het |
| Adamts17 |
A |
G |
7: 66,701,665 (GRCm39) |
K40E |
|
Het |
| Akr1c14 |
G |
A |
13: 4,138,952 (GRCm39) |
D312N |
probably benign |
Het |
| Alg6 |
T |
C |
4: 99,641,295 (GRCm39) |
V398A |
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,823,801 (GRCm39) |
M155K |
probably benign |
Het |
| Arid5b |
C |
A |
10: 67,954,096 (GRCm39) |
R396L |
probably damaging |
Het |
| Armt1 |
C |
A |
10: 4,382,706 (GRCm39) |
D12E |
probably benign |
Het |
| Arrb2 |
T |
A |
11: 70,328,796 (GRCm39) |
N217K |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,627,463 (GRCm39) |
L508Q |
probably damaging |
Het |
| Atg2b |
A |
T |
12: 105,630,957 (GRCm39) |
S323T |
probably benign |
Het |
| Atp1a3 |
G |
A |
7: 24,705,300 (GRCm39) |
|
probably benign |
Het |
| Atp6v0e |
T |
C |
17: 26,901,672 (GRCm39) |
V42A |
probably benign |
Het |
| Atp9b |
A |
G |
18: 80,809,056 (GRCm39) |
V621A |
|
Het |
| Atrnl1 |
A |
C |
19: 57,743,956 (GRCm39) |
D1186A |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,093,046 (GRCm39) |
M821K |
possibly damaging |
Het |
| Blnk |
G |
A |
19: 40,948,301 (GRCm39) |
R123* |
probably null |
Het |
| Bud13 |
T |
A |
9: 46,198,372 (GRCm39) |
S98T |
probably benign |
Het |
| Ccdc183 |
T |
C |
2: 25,499,469 (GRCm39) |
M455V |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,622,225 (GRCm39) |
Y1405C |
possibly damaging |
Het |
| Cdan1 |
A |
T |
2: 120,553,236 (GRCm39) |
L989Q |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,506,419 (GRCm39) |
I713T |
possibly damaging |
Het |
| Clta |
T |
A |
4: 44,032,419 (GRCm39) |
F168L |
possibly damaging |
Het |
| Cnnm1 |
A |
T |
19: 43,456,710 (GRCm39) |
H583L |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,749,906 (GRCm39) |
Y248H |
probably benign |
Het |
| Dsg4 |
G |
T |
18: 20,579,323 (GRCm39) |
G20* |
probably null |
Het |
| Dusp12 |
T |
A |
1: 170,707,345 (GRCm39) |
K248* |
probably null |
Het |
| Eeig2 |
C |
T |
3: 108,910,723 (GRCm39) |
A51T |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,776,925 (GRCm39) |
G624D |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,134,966 (GRCm39) |
D359G |
possibly damaging |
Het |
| Frmpd2 |
C |
A |
14: 33,229,510 (GRCm39) |
F365L |
probably damaging |
Het |
| Gab1 |
A |
G |
8: 81,515,298 (GRCm39) |
I340T |
probably benign |
Het |
| Gabpa |
C |
T |
16: 84,654,408 (GRCm39) |
Q362* |
probably null |
Het |
| Gcnt2 |
A |
T |
13: 41,040,688 (GRCm39) |
|
probably benign |
Het |
| Gm12728 |
T |
A |
4: 105,651,486 (GRCm39) |
L32Q |
probably damaging |
Het |
| Gpatch4 |
A |
G |
3: 87,959,003 (GRCm39) |
N35D |
probably damaging |
Het |
| Grid2 |
G |
T |
6: 64,252,854 (GRCm39) |
V441L |
possibly damaging |
Het |
| H2-M2 |
A |
G |
17: 37,792,361 (GRCm39) |
|
probably null |
Het |
| Hip1r |
T |
C |
5: 124,129,829 (GRCm39) |
F180L |
probably benign |
Het |
| Il17re |
T |
C |
6: 113,439,332 (GRCm39) |
F81L |
probably benign |
Het |
| Il3ra |
T |
C |
14: 14,350,691 (GRCm38) |
V235A |
possibly damaging |
Het |
| Krtap6-2 |
C |
T |
16: 89,216,761 (GRCm39) |
G69S |
unknown |
Het |
| Lmln |
T |
C |
16: 32,909,738 (GRCm39) |
L373P |
probably damaging |
Het |
| Lmo7 |
C |
A |
14: 102,139,551 (GRCm39) |
Q945K |
probably benign |
Het |
| Loxhd1 |
G |
T |
18: 77,383,547 (GRCm39) |
V149L |
possibly damaging |
Het |
| Lrrc73 |
T |
C |
17: 46,566,709 (GRCm39) |
|
probably null |
Het |
| Mapkapk5 |
G |
A |
5: 121,675,234 (GRCm39) |
H112Y |
possibly damaging |
Het |
| Maz |
A |
G |
7: 126,622,220 (GRCm39) |
V467A |
probably benign |
Het |
| Med13l |
T |
G |
5: 118,890,003 (GRCm39) |
V1884G |
probably damaging |
Het |
| Nlrp12 |
A |
C |
7: 3,271,213 (GRCm39) |
N1033K |
probably benign |
Het |
| Nos3 |
T |
A |
5: 24,572,613 (GRCm39) |
V184E |
probably damaging |
Het |
| Npr2 |
T |
C |
4: 43,647,155 (GRCm39) |
V737A |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,919,733 (GRCm39) |
R108Q |
|
Het |
| Or4k50-ps1 |
A |
G |
2: 111,522,401 (GRCm39) |
*179W |
probably null |
Het |
| Or4x11 |
A |
T |
2: 89,867,528 (GRCm39) |
K88N |
probably damaging |
Het |
| Or5t5 |
G |
T |
2: 86,616,565 (GRCm39) |
G164* |
probably null |
Het |
| Or5w22 |
T |
C |
2: 87,362,784 (GRCm39) |
S136P |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,719 (GRCm39) |
I302M |
probably benign |
Het |
| Or9a4 |
C |
A |
6: 40,549,240 (GRCm39) |
R307S |
probably benign |
Het |
| Ovol2 |
A |
G |
2: 144,159,792 (GRCm39) |
V116A |
probably benign |
Het |
| Pcdha5 |
C |
A |
18: 37,095,379 (GRCm39) |
S629R |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,602,408 (GRCm39) |
M2274L |
probably benign |
Het |
| Pdpk1 |
T |
C |
17: 24,320,643 (GRCm39) |
T185A |
probably benign |
Het |
| Pip5k1a |
T |
G |
3: 94,981,431 (GRCm39) |
T67P |
probably benign |
Het |
| Plat |
G |
T |
8: 23,263,667 (GRCm39) |
V189F |
probably damaging |
Het |
| Ppm1a |
C |
T |
12: 72,830,916 (GRCm39) |
S147L |
probably damaging |
Het |
| Prim1 |
T |
A |
10: 127,851,885 (GRCm39) |
D52E |
probably damaging |
Het |
| Prkab1 |
C |
G |
5: 116,162,221 (GRCm39) |
D30H |
possibly damaging |
Het |
| Psma6 |
A |
T |
12: 55,445,613 (GRCm39) |
|
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,473,675 (GRCm39) |
M196K |
probably damaging |
Het |
| Ralgapa2 |
G |
T |
2: 146,276,776 (GRCm39) |
T488K |
probably benign |
Het |
| Rapgefl1 |
A |
G |
11: 98,741,940 (GRCm39) |
K635E |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,734 (GRCm39) |
V289M |
probably damaging |
Het |
| Ro60 |
T |
C |
1: 143,641,548 (GRCm39) |
I304M |
probably benign |
Het |
| Scmh1 |
T |
C |
4: 120,386,353 (GRCm39) |
L631P |
probably damaging |
Het |
| Sema3e |
T |
G |
5: 14,274,404 (GRCm39) |
D218E |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,187,091 (GRCm39) |
V70A |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,047,960 (GRCm39) |
V801L |
probably benign |
Het |
| Slc25a51 |
C |
G |
4: 45,399,765 (GRCm39) |
A142P |
possibly damaging |
Het |
| Slc41a1 |
C |
T |
1: 131,758,694 (GRCm39) |
T112I |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,254,511 (GRCm39) |
M264T |
probably benign |
Het |
| Snapc1 |
T |
A |
12: 74,015,068 (GRCm39) |
M134K |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,986,276 (GRCm39) |
F215S |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,721,547 (GRCm39) |
E1526G |
probably damaging |
Het |
| Tbc1d10a |
C |
A |
11: 4,163,016 (GRCm39) |
Y260* |
probably null |
Het |
| Tdrd5 |
A |
T |
1: 156,130,002 (GRCm39) |
L56Q |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,755,768 (GRCm39) |
T77A |
probably benign |
Het |
| Tmprss11g |
T |
G |
5: 86,644,366 (GRCm39) |
R159S |
possibly damaging |
Het |
| Traj38 |
T |
A |
14: 54,418,034 (GRCm39) |
N1K |
|
Het |
| Ttn |
A |
G |
2: 76,596,631 (GRCm39) |
I20094T |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,115,693 (GRCm39) |
L64P |
probably damaging |
Het |
| Utp20 |
C |
T |
10: 88,634,260 (GRCm39) |
R812Q |
probably benign |
Het |
| Vmn2r57 |
C |
A |
7: 41,076,148 (GRCm39) |
V455L |
probably benign |
Het |
| Wdcp |
T |
C |
12: 4,900,246 (GRCm39) |
V34A |
probably damaging |
Het |
| Zfp27 |
C |
T |
7: 29,594,784 (GRCm39) |
V394I |
probably benign |
Het |
| Zfp512b |
T |
C |
2: 181,231,649 (GRCm39) |
H177R |
probably benign |
Het |
| Zfp648 |
T |
A |
1: 154,080,783 (GRCm39) |
M314K |
possibly damaging |
Het |
| Zfp811 |
T |
C |
17: 33,017,733 (GRCm39) |
I102M |
possibly damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,705,189 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Nsd1
|
APN |
13 |
55,386,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01060:Nsd1
|
APN |
13 |
55,411,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01125:Nsd1
|
APN |
13 |
55,393,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01746:Nsd1
|
APN |
13 |
55,424,328 (GRCm39) |
splice site |
probably null |
|
|
IGL02437:Nsd1
|
APN |
13 |
55,461,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Nsd1
|
APN |
13 |
55,450,646 (GRCm39) |
splice site |
probably benign |
|
|
IGL02557:Nsd1
|
APN |
13 |
55,460,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02572:Nsd1
|
APN |
13 |
55,443,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02665:Nsd1
|
APN |
13 |
55,443,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02870:Nsd1
|
APN |
13 |
55,461,416 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03181:Nsd1
|
APN |
13 |
55,394,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Amanuensis
|
UTSW |
13 |
55,409,439 (GRCm39) |
nonsense |
probably null |
|
|
handwriting
|
UTSW |
13 |
55,461,359 (GRCm39) |
missense |
|
|
|
Prothonotary
|
UTSW |
13 |
55,430,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
scribe
|
UTSW |
13 |
55,439,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
stenographer
|
UTSW |
13 |
55,446,189 (GRCm39) |
splice site |
probably null |
|
|
PIT4480001:Nsd1
|
UTSW |
13 |
55,361,731 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0316:Nsd1
|
UTSW |
13 |
55,361,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0519:Nsd1
|
UTSW |
13 |
55,460,648 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0542:Nsd1
|
UTSW |
13 |
55,408,271 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0563:Nsd1
|
UTSW |
13 |
55,394,391 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0652:Nsd1
|
UTSW |
13 |
55,395,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0906:Nsd1
|
UTSW |
13 |
55,425,403 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1560:Nsd1
|
UTSW |
13 |
55,394,533 (GRCm39) |
nonsense |
probably null |
|
|
R1572:Nsd1
|
UTSW |
13 |
55,394,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1693:Nsd1
|
UTSW |
13 |
55,395,074 (GRCm39) |
missense |
probably benign |
|
|
R1697:Nsd1
|
UTSW |
13 |
55,361,872 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1720:Nsd1
|
UTSW |
13 |
55,394,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1829:Nsd1
|
UTSW |
13 |
55,394,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Nsd1
|
UTSW |
13 |
55,461,164 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1842:Nsd1
|
UTSW |
13 |
55,394,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Nsd1
|
UTSW |
13 |
55,361,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2022:Nsd1
|
UTSW |
13 |
55,361,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2075:Nsd1
|
UTSW |
13 |
55,458,313 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2143:Nsd1
|
UTSW |
13 |
55,408,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Nsd1
|
UTSW |
13 |
55,439,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2316:Nsd1
|
UTSW |
13 |
55,381,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2359:Nsd1
|
UTSW |
13 |
55,361,524 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2361:Nsd1
|
UTSW |
13 |
55,361,524 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2656:Nsd1
|
UTSW |
13 |
55,394,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Nsd1
|
UTSW |
13 |
55,361,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3237:Nsd1
|
UTSW |
13 |
55,460,701 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3772:Nsd1
|
UTSW |
13 |
55,394,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3773:Nsd1
|
UTSW |
13 |
55,394,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3849:Nsd1
|
UTSW |
13 |
55,394,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3951:Nsd1
|
UTSW |
13 |
55,416,267 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4036:Nsd1
|
UTSW |
13 |
55,361,524 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4073:Nsd1
|
UTSW |
13 |
55,395,541 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4080:Nsd1
|
UTSW |
13 |
55,449,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4226:Nsd1
|
UTSW |
13 |
55,408,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4485:Nsd1
|
UTSW |
13 |
55,393,434 (GRCm39) |
missense |
probably benign |
|
|
R4703:Nsd1
|
UTSW |
13 |
55,361,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4853:Nsd1
|
UTSW |
13 |
55,416,317 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4915:Nsd1
|
UTSW |
13 |
55,424,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4915:Nsd1
|
UTSW |
13 |
55,395,681 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5264:Nsd1
|
UTSW |
13 |
55,395,159 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5348:Nsd1
|
UTSW |
13 |
55,460,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5473:Nsd1
|
UTSW |
13 |
55,395,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Nsd1
|
UTSW |
13 |
55,361,115 (GRCm39) |
nonsense |
probably null |
|
|
R5503:Nsd1
|
UTSW |
13 |
55,393,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5511:Nsd1
|
UTSW |
13 |
55,460,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5683:Nsd1
|
UTSW |
13 |
55,393,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5778:Nsd1
|
UTSW |
13 |
55,454,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5793:Nsd1
|
UTSW |
13 |
55,395,819 (GRCm39) |
missense |
probably benign |
|
|
R5922:Nsd1
|
UTSW |
13 |
55,395,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5956:Nsd1
|
UTSW |
13 |
55,411,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Nsd1
|
UTSW |
13 |
55,441,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Nsd1
|
UTSW |
13 |
55,439,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Nsd1
|
UTSW |
13 |
55,393,434 (GRCm39) |
missense |
probably benign |
|
|
R6224:Nsd1
|
UTSW |
13 |
55,460,945 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6396:Nsd1
|
UTSW |
13 |
55,386,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6598:Nsd1
|
UTSW |
13 |
55,441,515 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7170:Nsd1
|
UTSW |
13 |
55,409,439 (GRCm39) |
nonsense |
probably null |
|
|
R7205:Nsd1
|
UTSW |
13 |
55,394,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:Nsd1
|
UTSW |
13 |
55,395,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7337:Nsd1
|
UTSW |
13 |
55,394,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7638:Nsd1
|
UTSW |
13 |
55,460,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7647:Nsd1
|
UTSW |
13 |
55,447,648 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7658:Nsd1
|
UTSW |
13 |
55,425,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:Nsd1
|
UTSW |
13 |
55,461,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8032:Nsd1
|
UTSW |
13 |
55,458,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8113:Nsd1
|
UTSW |
13 |
55,393,434 (GRCm39) |
missense |
probably benign |
|
|
R8152:Nsd1
|
UTSW |
13 |
55,458,180 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8183:Nsd1
|
UTSW |
13 |
55,460,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:Nsd1
|
UTSW |
13 |
55,395,516 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8462:Nsd1
|
UTSW |
13 |
55,446,189 (GRCm39) |
splice site |
probably null |
|
|
R8469:Nsd1
|
UTSW |
13 |
55,425,366 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8756:Nsd1
|
UTSW |
13 |
55,461,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8867:Nsd1
|
UTSW |
13 |
55,430,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Nsd1
|
UTSW |
13 |
55,393,667 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9101:Nsd1
|
UTSW |
13 |
55,461,359 (GRCm39) |
missense |
|
|
|
R9154:Nsd1
|
UTSW |
13 |
55,361,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Nsd1
|
UTSW |
13 |
55,361,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Nsd1
|
UTSW |
13 |
55,394,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9592:Nsd1
|
UTSW |
13 |
55,424,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:Nsd1
|
UTSW |
13 |
55,381,807 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9712:Nsd1
|
UTSW |
13 |
55,393,856 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9716:Nsd1
|
UTSW |
13 |
55,458,313 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9787:Nsd1
|
UTSW |
13 |
55,461,518 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1088:Nsd1
|
UTSW |
13 |
55,361,661 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1176:Nsd1
|
UTSW |
13 |
55,393,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAGGCACAGTATGGATC -3'
(R):5'- GTGGGCTCCTGTTTCATAGC -3'
Sequencing Primer
(F):5'- GCACAGTATGGATCGGACTTG -3'
(R):5'- CAATTGGCGACTGAGCTCTTGAATC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation