Incidental Mutation 'R0012:Snrnp200'
| ID |
32528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrnp200
|
| Ensembl Gene |
ENSMUSG00000003660 |
| Gene Name |
small nuclear ribonucleoprotein 200 (U5) |
| Synonyms |
Ascc3l1, A330064G03Rik, HELIC2, U5-200KD |
| MMRRC Submission |
038307-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0012 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
127050306-127082371 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127070469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1061
(V1061A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103220]
|
| AlphaFold |
Q6P4T2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103220
AA Change: V1061A
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: V1061A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
386 |
N/A |
INTRINSIC |
|
DEXDc
|
477 |
690 |
2.63e-30 |
SMART |
|
AAA
|
495 |
680 |
5.77e-2 |
SMART |
|
HELICc
|
768 |
860 |
3.76e-17 |
SMART |
|
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
|
Sec63
|
981 |
1286 |
2.62e-128 |
SMART |
|
DEXDc
|
1324 |
1528 |
1.43e-31 |
SMART |
|
AAA
|
1342 |
1533 |
2.39e0 |
SMART |
|
HELICc
|
1607 |
1695 |
1.26e-9 |
SMART |
|
Sec63
|
1812 |
2124 |
1.39e-118 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140868
|
| Meta Mutation Damage Score |
0.1817 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.7%
|
| Validation Efficiency |
98% (81/83) |
| MGI Phenotype |
FUNCTION: On February 19, 2002, this locus was switched from human to mouse. The source accession, Z70200.1, is almost identical to the mouse BAC clone AC074224, and it matches the mouse cDNA accession BC011390 as well. The human gene is LocusID 23020. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
A |
T |
2: 130,894,840 (GRCm39) |
L687Q |
probably damaging |
Het |
| Adap1 |
A |
G |
5: 139,293,489 (GRCm39) |
|
probably benign |
Het |
| Add2 |
T |
A |
6: 86,075,610 (GRCm39) |
V253E |
probably damaging |
Het |
| Agtr1a |
A |
T |
13: 30,565,732 (GRCm39) |
I266F |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,215,406 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| Bnip3 |
A |
G |
7: 138,500,401 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,860,852 (GRCm39) |
S311R |
probably damaging |
Het |
| C2cd3 |
G |
A |
7: 100,067,729 (GRCm39) |
V871M |
possibly damaging |
Het |
| Cacul1 |
A |
G |
19: 60,552,691 (GRCm39) |
W145R |
probably damaging |
Het |
| Celf5 |
C |
A |
10: 81,305,346 (GRCm39) |
V141L |
probably damaging |
Het |
| Cfap206 |
C |
A |
4: 34,714,519 (GRCm39) |
L392F |
possibly damaging |
Het |
| Chd2 |
G |
T |
7: 73,105,267 (GRCm39) |
T192K |
probably damaging |
Het |
| Chrna10 |
T |
C |
7: 101,764,264 (GRCm39) |
N40S |
possibly damaging |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,458,722 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Col5a3 |
A |
T |
9: 20,688,404 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
T |
A |
7: 113,836,643 (GRCm39) |
K366N |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,849,436 (GRCm39) |
R570C |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,175,687 (GRCm39) |
L7Q |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,674,622 (GRCm39) |
E10G |
possibly damaging |
Het |
| Dpysl4 |
T |
G |
7: 138,677,799 (GRCm39) |
I412S |
probably benign |
Het |
| Eaf2 |
T |
A |
16: 36,628,536 (GRCm39) |
|
probably benign |
Het |
| Fasl |
T |
C |
1: 161,615,733 (GRCm39) |
D41G |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,697 (GRCm39) |
V3505A |
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,620,256 (GRCm39) |
F101S |
probably damaging |
Het |
| Fdft1 |
T |
C |
14: 63,415,147 (GRCm39) |
I28M |
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,941,367 (GRCm39) |
I400M |
probably benign |
Het |
| Get3 |
T |
C |
8: 85,751,725 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,228,880 (GRCm39) |
M228K |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,431,227 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,670,996 (GRCm39) |
M467T |
probably damaging |
Het |
| Hmgb4 |
T |
A |
4: 128,154,518 (GRCm39) |
I17F |
probably damaging |
Het |
| Ints10 |
C |
A |
8: 69,260,127 (GRCm39) |
L284M |
probably benign |
Het |
| Kif17 |
T |
G |
4: 138,021,059 (GRCm39) |
S606A |
probably damaging |
Het |
| Lifr |
C |
A |
15: 7,205,089 (GRCm39) |
T442K |
possibly damaging |
Het |
| Lypd4 |
A |
G |
7: 24,564,757 (GRCm39) |
L127P |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,862,279 (GRCm39) |
H2605R |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,457,076 (GRCm39) |
S1289P |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,742,190 (GRCm39) |
|
probably null |
Het |
| Mob1b |
G |
A |
5: 88,903,943 (GRCm39) |
|
probably benign |
Het |
| Mrgpra1 |
A |
G |
7: 46,985,218 (GRCm39) |
S154P |
probably damaging |
Het |
| Ms4a4c |
C |
A |
19: 11,396,344 (GRCm39) |
|
probably benign |
Het |
| Mthfd2l |
A |
T |
5: 91,109,242 (GRCm39) |
H224L |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,190,847 (GRCm39) |
Y1350H |
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,464,669 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
A |
C |
5: 118,031,967 (GRCm39) |
N305T |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,206 (GRCm39) |
Q340L |
possibly damaging |
Het |
| Or2aj5 |
T |
C |
16: 19,425,190 (GRCm39) |
N76S |
probably benign |
Het |
| Or4f62 |
A |
T |
2: 111,987,171 (GRCm39) |
N292Y |
possibly damaging |
Het |
| Or6k14 |
T |
G |
1: 173,927,773 (GRCm39) |
F250V |
probably damaging |
Het |
| Or9i1 |
C |
A |
19: 13,839,187 (GRCm39) |
T10K |
probably damaging |
Het |
| Orc1 |
T |
C |
4: 108,452,843 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
C |
A |
4: 152,189,207 (GRCm39) |
D249E |
probably benign |
Het |
| Plet1 |
A |
G |
9: 50,410,430 (GRCm39) |
I74V |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,480,434 (GRCm39) |
D718E |
probably damaging |
Het |
| Rab33b |
G |
T |
3: 51,391,737 (GRCm39) |
|
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,844,466 (GRCm39) |
F4I |
unknown |
Het |
| Ralgapa2 |
A |
G |
2: 146,254,672 (GRCm39) |
Y821H |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Sharpin |
G |
T |
15: 76,232,543 (GRCm39) |
P156T |
possibly damaging |
Het |
| Slc38a4 |
C |
T |
15: 96,897,510 (GRCm39) |
R435H |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,247,980 (GRCm39) |
T234A |
possibly damaging |
Het |
| Swsap1 |
T |
C |
9: 21,868,318 (GRCm39) |
C197R |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,259,412 (GRCm39) |
T428A |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,182,319 (GRCm39) |
Y1215C |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,979,523 (GRCm39) |
|
probably benign |
Het |
| Tmem209 |
G |
T |
6: 30,502,112 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,589,176 (GRCm39) |
E58G |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,272,283 (GRCm39) |
M464K |
probably damaging |
Het |
| Ttc32 |
A |
G |
12: 9,085,897 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Unc80 |
T |
C |
1: 66,546,550 (GRCm39) |
S541P |
probably damaging |
Het |
| Ushbp1 |
T |
C |
8: 71,847,684 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,725,136 (GRCm39) |
M22V |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,746,296 (GRCm39) |
E485V |
probably damaging |
Het |
| Wdr24 |
G |
A |
17: 26,046,087 (GRCm39) |
V471I |
probably benign |
Het |
| Zfp35 |
T |
A |
18: 24,136,001 (GRCm39) |
M115K |
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,538,796 (GRCm39) |
S216L |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
probably benign |
Het |
|
| Other mutations in Snrnp200 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Snrnp200
|
APN |
2 |
127,072,055 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01013:Snrnp200
|
APN |
2 |
127,074,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01073:Snrnp200
|
APN |
2 |
127,056,832 (GRCm39) |
splice site |
probably benign |
|
|
IGL01319:Snrnp200
|
APN |
2 |
127,072,047 (GRCm39) |
splice site |
probably benign |
|
|
IGL01597:Snrnp200
|
APN |
2 |
127,080,652 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01631:Snrnp200
|
APN |
2 |
127,080,744 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01646:Snrnp200
|
APN |
2 |
127,064,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02019:Snrnp200
|
APN |
2 |
127,074,825 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02158:Snrnp200
|
APN |
2 |
127,079,403 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02269:Snrnp200
|
APN |
2 |
127,071,911 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02288:Snrnp200
|
APN |
2 |
127,071,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:Snrnp200
|
APN |
2 |
127,058,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02476:Snrnp200
|
APN |
2 |
127,059,408 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02613:Snrnp200
|
APN |
2 |
127,060,346 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02898:Snrnp200
|
APN |
2 |
127,058,676 (GRCm39) |
splice site |
probably benign |
|
|
IGL03108:Snrnp200
|
APN |
2 |
127,080,087 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03143:Snrnp200
|
APN |
2 |
127,071,962 (GRCm39) |
critical splice donor site |
probably benign |
|
|
IGL03237:Snrnp200
|
APN |
2 |
127,075,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Snrnp200
|
UTSW |
2 |
127,070,469 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0033:Snrnp200
|
UTSW |
2 |
127,079,983 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0033:Snrnp200
|
UTSW |
2 |
127,079,983 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0047:Snrnp200
|
UTSW |
2 |
127,076,874 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Snrnp200
|
UTSW |
2 |
127,076,874 (GRCm39) |
splice site |
probably benign |
|
|
R0057:Snrnp200
|
UTSW |
2 |
127,079,827 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0270:Snrnp200
|
UTSW |
2 |
127,074,902 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0626:Snrnp200
|
UTSW |
2 |
127,063,734 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0731:Snrnp200
|
UTSW |
2 |
127,068,065 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Snrnp200
|
UTSW |
2 |
127,070,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Snrnp200
|
UTSW |
2 |
127,078,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1383:Snrnp200
|
UTSW |
2 |
127,060,331 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1444:Snrnp200
|
UTSW |
2 |
127,070,158 (GRCm39) |
splice site |
probably benign |
|
|
R1757:Snrnp200
|
UTSW |
2 |
127,074,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Snrnp200
|
UTSW |
2 |
127,058,656 (GRCm39) |
missense |
probably benign |
|
|
R1808:Snrnp200
|
UTSW |
2 |
127,060,948 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1808:Snrnp200
|
UTSW |
2 |
127,060,947 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1957:Snrnp200
|
UTSW |
2 |
127,058,095 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2007:Snrnp200
|
UTSW |
2 |
127,068,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:Snrnp200
|
UTSW |
2 |
127,076,904 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2070:Snrnp200
|
UTSW |
2 |
127,079,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2070:Snrnp200
|
UTSW |
2 |
127,054,323 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2892:Snrnp200
|
UTSW |
2 |
127,073,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3236:Snrnp200
|
UTSW |
2 |
127,063,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3862:Snrnp200
|
UTSW |
2 |
127,075,019 (GRCm39) |
splice site |
probably benign |
|
|
R4028:Snrnp200
|
UTSW |
2 |
127,079,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4105:Snrnp200
|
UTSW |
2 |
127,069,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Snrnp200
|
UTSW |
2 |
127,064,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4471:Snrnp200
|
UTSW |
2 |
127,080,673 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4526:Snrnp200
|
UTSW |
2 |
127,071,022 (GRCm39) |
missense |
probably benign |
|
|
R4575:Snrnp200
|
UTSW |
2 |
127,076,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4710:Snrnp200
|
UTSW |
2 |
127,068,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Snrnp200
|
UTSW |
2 |
127,069,798 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4728:Snrnp200
|
UTSW |
2 |
127,059,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Snrnp200
|
UTSW |
2 |
127,074,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4828:Snrnp200
|
UTSW |
2 |
127,053,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5082:Snrnp200
|
UTSW |
2 |
127,068,290 (GRCm39) |
nonsense |
probably null |
|
|
R5213:Snrnp200
|
UTSW |
2 |
127,073,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Snrnp200
|
UTSW |
2 |
127,073,607 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5486:Snrnp200
|
UTSW |
2 |
127,074,986 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5595:Snrnp200
|
UTSW |
2 |
127,067,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5598:Snrnp200
|
UTSW |
2 |
127,068,007 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5681:Snrnp200
|
UTSW |
2 |
127,067,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6207:Snrnp200
|
UTSW |
2 |
127,052,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6258:Snrnp200
|
UTSW |
2 |
127,060,343 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6259:Snrnp200
|
UTSW |
2 |
127,060,343 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6299:Snrnp200
|
UTSW |
2 |
127,064,081 (GRCm39) |
nonsense |
probably null |
|
|
R6434:Snrnp200
|
UTSW |
2 |
127,080,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6522:Snrnp200
|
UTSW |
2 |
127,063,747 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6647:Snrnp200
|
UTSW |
2 |
127,068,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Snrnp200
|
UTSW |
2 |
127,071,085 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7027:Snrnp200
|
UTSW |
2 |
127,059,192 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7358:Snrnp200
|
UTSW |
2 |
127,063,746 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7436:Snrnp200
|
UTSW |
2 |
127,068,404 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7587:Snrnp200
|
UTSW |
2 |
127,069,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Snrnp200
|
UTSW |
2 |
127,063,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Snrnp200
|
UTSW |
2 |
127,071,022 (GRCm39) |
missense |
probably benign |
|
|
R7841:Snrnp200
|
UTSW |
2 |
127,078,754 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7863:Snrnp200
|
UTSW |
2 |
127,073,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Snrnp200
|
UTSW |
2 |
127,074,979 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8117:Snrnp200
|
UTSW |
2 |
127,071,051 (GRCm39) |
missense |
probably benign |
|
|
R8262:Snrnp200
|
UTSW |
2 |
127,068,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8551:Snrnp200
|
UTSW |
2 |
127,068,971 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8675:Snrnp200
|
UTSW |
2 |
127,074,443 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8754:Snrnp200
|
UTSW |
2 |
127,068,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8852:Snrnp200
|
UTSW |
2 |
127,060,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8899:Snrnp200
|
UTSW |
2 |
127,078,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Snrnp200
|
UTSW |
2 |
127,068,902 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9030:Snrnp200
|
UTSW |
2 |
127,053,466 (GRCm39) |
intron |
probably benign |
|
|
R9260:Snrnp200
|
UTSW |
2 |
127,078,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Snrnp200
|
UTSW |
2 |
127,058,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9385:Snrnp200
|
UTSW |
2 |
127,079,978 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9478:Snrnp200
|
UTSW |
2 |
127,076,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9652:Snrnp200
|
UTSW |
2 |
127,067,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Snrnp200
|
UTSW |
2 |
127,067,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Snrnp200
|
UTSW |
2 |
127,068,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF016:Snrnp200
|
UTSW |
2 |
127,072,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Snrnp200
|
UTSW |
2 |
127,076,895 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Snrnp200
|
UTSW |
2 |
127,077,951 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATCCCTGTAAAGGAGAGCATTG -3'
(R):5'- AGGACCTACAGAGCCTCTTAGCAC -3'
Sequencing Primer
(F):5'- CGCTAAGGTAAGCACGTCTTC -3'
(R):5'- CTCAATATCAGCACAATAGAGTGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation