Incidental Mutation 'IGL02991:Sympk'
ID |
452922 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sympk
|
Ensembl Gene |
ENSMUSG00000023118 |
Gene Name |
symplekin |
Synonyms |
1500016F02Rik, 4632415H16Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
IGL02991 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18758321-18788542 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18764502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 69
(L69Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023882]
[ENSMUST00000146903]
[ENSMUST00000153976]
|
AlphaFold |
Q80X82 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023882
AA Change: L69Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023882 Gene: ENSMUSG00000023118 AA Change: L69Q
Domain | Start | End | E-Value | Type |
low complexity region
|
106 |
118 |
N/A |
INTRINSIC |
Pfam:DUF3453
|
119 |
352 |
1.1e-63 |
PFAM |
low complexity region
|
473 |
485 |
N/A |
INTRINSIC |
Pfam:Symplekin_C
|
887 |
1068 |
4.3e-78 |
PFAM |
low complexity region
|
1123 |
1149 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137287
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146903
AA Change: L69Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138740 Gene: ENSMUSG00000023118 AA Change: L69Q
Domain | Start | End | E-Value | Type |
Pfam:DUF3453
|
117 |
230 |
1.1e-35 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153976
AA Change: L69Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121540 Gene: ENSMUSG00000023118 AA Change: L69Q
Domain | Start | End | E-Value | Type |
Pfam:Cohesin_HEAT
|
48 |
96 |
9e-7 |
PFAM |
Pfam:DUF3453
|
117 |
198 |
2.2e-24 |
PFAM |
|
Meta Mutation Damage Score |
0.5090 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
95% (73/77) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Adam23 |
T |
C |
1: 63,586,978 (GRCm39) |
|
probably null |
Het |
Aptx |
C |
A |
4: 40,686,687 (GRCm39) |
G199C |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,299,294 (GRCm39) |
|
probably benign |
Het |
Atp11b |
A |
G |
3: 35,881,140 (GRCm39) |
T566A |
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,348,713 (GRCm39) |
Q202* |
probably null |
Het |
Cacna1h |
C |
A |
17: 25,610,286 (GRCm39) |
R740L |
possibly damaging |
Het |
Casp8 |
T |
A |
1: 58,866,438 (GRCm39) |
N146K |
probably benign |
Het |
Ccdc63 |
T |
C |
5: 122,246,275 (GRCm39) |
M549V |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh20 |
T |
C |
1: 104,861,972 (GRCm39) |
S51P |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,828,398 (GRCm39) |
M1113T |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
ACC |
AC |
1: 139,164,822 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Cxcl11 |
C |
T |
5: 92,509,169 (GRCm39) |
R28H |
probably damaging |
Het |
Defb40 |
C |
T |
8: 19,025,119 (GRCm39) |
C29Y |
probably damaging |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Fen1 |
A |
T |
19: 10,178,026 (GRCm39) |
D139E |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,395,511 (GRCm39) |
E1846G |
probably damaging |
Het |
Gria2 |
T |
A |
3: 80,615,116 (GRCm39) |
K455* |
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,614,409 (GRCm39) |
N1332K |
possibly damaging |
Het |
Htr5b |
C |
T |
1: 121,455,756 (GRCm39) |
V55M |
probably benign |
Het |
Ighv6-5 |
A |
T |
12: 114,380,315 (GRCm39) |
N86K |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,174,833 (GRCm39) |
V347A |
possibly damaging |
Het |
Itih5 |
A |
G |
2: 10,256,162 (GRCm39) |
E876G |
probably benign |
Het |
Itpkb |
A |
T |
1: 180,155,279 (GRCm39) |
|
probably benign |
Het |
Lbr |
T |
C |
1: 181,649,117 (GRCm39) |
Y334C |
probably damaging |
Het |
Lrfn2 |
T |
C |
17: 49,377,732 (GRCm39) |
L271P |
probably damaging |
Het |
Lss |
T |
A |
10: 76,379,745 (GRCm39) |
|
probably benign |
Het |
Map1a |
T |
C |
2: 121,132,091 (GRCm39) |
V731A |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mob3b |
T |
A |
4: 35,083,805 (GRCm39) |
Q128L |
probably benign |
Het |
Mog |
T |
C |
17: 37,334,091 (GRCm39) |
M1V |
probably null |
Het |
Mrpl4 |
A |
G |
9: 20,919,901 (GRCm39) |
Y284C |
probably damaging |
Het |
Mtus2 |
T |
G |
5: 148,250,310 (GRCm39) |
V310G |
probably damaging |
Het |
Mup11 |
ACAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCA |
4: 60,618,275 (GRCm39) |
|
probably benign |
Het |
Odad4 |
A |
G |
11: 100,444,698 (GRCm39) |
S285G |
probably benign |
Het |
Or10g9 |
T |
C |
9: 39,911,698 (GRCm39) |
Y275C |
probably damaging |
Het |
Or8g55 |
T |
A |
9: 39,785,362 (GRCm39) |
S264T |
probably benign |
Het |
Orc3 |
T |
G |
4: 34,593,083 (GRCm39) |
Q328P |
probably damaging |
Het |
Otulinl |
T |
C |
15: 27,658,388 (GRCm39) |
S211G |
possibly damaging |
Het |
Pcdhb20 |
G |
T |
18: 37,639,264 (GRCm39) |
G597C |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,675,260 (GRCm39) |
I334T |
probably damaging |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Proz |
G |
A |
8: 13,123,490 (GRCm39) |
E254K |
probably benign |
Het |
Psma6 |
T |
C |
12: 55,454,357 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,776,192 (GRCm39) |
V1115A |
probably damaging |
Het |
Sfxn5 |
G |
T |
6: 85,266,190 (GRCm39) |
N102K |
possibly damaging |
Het |
Sgo2a |
G |
T |
1: 58,054,514 (GRCm39) |
|
probably benign |
Het |
Slc14a2 |
A |
T |
18: 78,249,049 (GRCm39) |
M1K |
probably null |
Het |
Spag5 |
T |
A |
11: 78,205,077 (GRCm39) |
L621M |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,068,533 (GRCm39) |
Y227C |
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Supt6 |
T |
C |
11: 78,116,179 (GRCm39) |
E728G |
probably damaging |
Het |
Timd4 |
T |
A |
11: 46,732,974 (GRCm39) |
|
probably benign |
Het |
Trh |
G |
A |
6: 92,220,719 (GRCm39) |
R48W |
probably damaging |
Het |
Trip12 |
C |
A |
1: 84,716,536 (GRCm39) |
D383Y |
probably damaging |
Het |
Tspo2 |
T |
A |
17: 48,757,014 (GRCm39) |
I23F |
possibly damaging |
Het |
Tspyl5 |
A |
G |
15: 33,686,989 (GRCm39) |
S319P |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,717,201 (GRCm39) |
K403E |
probably damaging |
Het |
Vmn2r34 |
C |
A |
7: 7,675,720 (GRCm39) |
C556F |
probably damaging |
Het |
Vps13c |
C |
A |
9: 67,821,159 (GRCm39) |
A1223E |
probably damaging |
Het |
|
Other mutations in Sympk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01114:Sympk
|
APN |
7 |
18,781,498 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01834:Sympk
|
APN |
7 |
18,777,360 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02588:Sympk
|
APN |
7 |
18,776,550 (GRCm39) |
missense |
probably benign |
|
IGL02601:Sympk
|
APN |
7 |
18,782,794 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02645:Sympk
|
APN |
7 |
18,786,349 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02698:Sympk
|
APN |
7 |
18,779,559 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02709:Sympk
|
APN |
7 |
18,781,463 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02814:Sympk
|
APN |
7 |
18,787,198 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03198:Sympk
|
APN |
7 |
18,778,921 (GRCm39) |
missense |
possibly damaging |
0.92 |
butterfinger
|
UTSW |
7 |
18,782,378 (GRCm39) |
missense |
probably damaging |
0.98 |
fifth_avenue
|
UTSW |
7 |
18,777,385 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0391:Sympk
|
UTSW |
7 |
18,780,774 (GRCm39) |
missense |
probably benign |
0.06 |
R1036:Sympk
|
UTSW |
7 |
18,782,378 (GRCm39) |
missense |
probably damaging |
0.98 |
R1872:Sympk
|
UTSW |
7 |
18,763,070 (GRCm39) |
missense |
probably benign |
|
R2058:Sympk
|
UTSW |
7 |
18,777,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R2103:Sympk
|
UTSW |
7 |
18,788,041 (GRCm39) |
missense |
probably benign |
|
R2966:Sympk
|
UTSW |
7 |
18,764,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R3110:Sympk
|
UTSW |
7 |
18,768,409 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3112:Sympk
|
UTSW |
7 |
18,768,409 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3703:Sympk
|
UTSW |
7 |
18,774,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R3775:Sympk
|
UTSW |
7 |
18,769,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R3930:Sympk
|
UTSW |
7 |
18,781,447 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4638:Sympk
|
UTSW |
7 |
18,777,385 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4639:Sympk
|
UTSW |
7 |
18,777,385 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4645:Sympk
|
UTSW |
7 |
18,777,385 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4688:Sympk
|
UTSW |
7 |
18,788,335 (GRCm39) |
missense |
probably benign |
|
R5050:Sympk
|
UTSW |
7 |
18,769,967 (GRCm39) |
missense |
probably benign |
0.19 |
R5051:Sympk
|
UTSW |
7 |
18,769,967 (GRCm39) |
missense |
probably benign |
0.19 |
R5052:Sympk
|
UTSW |
7 |
18,769,967 (GRCm39) |
missense |
probably benign |
0.19 |
R5092:Sympk
|
UTSW |
7 |
18,776,584 (GRCm39) |
missense |
probably benign |
0.17 |
R5211:Sympk
|
UTSW |
7 |
18,769,814 (GRCm39) |
missense |
probably benign |
0.22 |
R5591:Sympk
|
UTSW |
7 |
18,787,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R5678:Sympk
|
UTSW |
7 |
18,783,397 (GRCm39) |
critical splice donor site |
probably null |
|
R5972:Sympk
|
UTSW |
7 |
18,780,749 (GRCm39) |
missense |
probably benign |
|
R6387:Sympk
|
UTSW |
7 |
18,786,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6543:Sympk
|
UTSW |
7 |
18,770,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R6984:Sympk
|
UTSW |
7 |
18,771,968 (GRCm39) |
missense |
probably benign |
0.00 |
R7141:Sympk
|
UTSW |
7 |
18,788,017 (GRCm39) |
missense |
probably benign |
|
R7292:Sympk
|
UTSW |
7 |
18,769,955 (GRCm39) |
missense |
probably benign |
0.01 |
R7319:Sympk
|
UTSW |
7 |
18,769,770 (GRCm39) |
missense |
probably benign |
|
R7887:Sympk
|
UTSW |
7 |
18,768,364 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8094:Sympk
|
UTSW |
7 |
18,787,373 (GRCm39) |
critical splice donor site |
probably null |
|
R8147:Sympk
|
UTSW |
7 |
18,770,718 (GRCm39) |
missense |
probably damaging |
0.98 |
R8409:Sympk
|
UTSW |
7 |
18,786,363 (GRCm39) |
missense |
probably benign |
0.11 |
R9075:Sympk
|
UTSW |
7 |
18,776,563 (GRCm39) |
missense |
probably benign |
0.00 |
R9126:Sympk
|
UTSW |
7 |
18,778,873 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9482:Sympk
|
UTSW |
7 |
18,771,986 (GRCm39) |
missense |
possibly damaging |
0.50 |
RF064:Sympk
|
UTSW |
7 |
18,768,320 (GRCm39) |
frame shift |
probably null |
|
X0017:Sympk
|
UTSW |
7 |
18,774,588 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCACATTGAGCTCAGAGG -3'
(R):5'- CCATGCCTCCTCAATGAAGC -3'
Sequencing Primer
(F):5'- AAGTGGCTCCCAGAGATGCTATTC -3'
(R):5'- TGCCTCCTCAATGAAGCCAATG -3'
|
Posted On |
2017-01-24 |