Incidental Mutation 'R5052:Sympk'
ID |
394697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sympk
|
Ensembl Gene |
ENSMUSG00000023118 |
Gene Name |
symplekin |
Synonyms |
1500016F02Rik, 4632415H16Rik |
MMRRC Submission |
042642-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R5052 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18758321-18788542 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 18769967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 215
(R215C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023882]
[ENSMUST00000146903]
[ENSMUST00000153976]
|
AlphaFold |
Q80X82 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023882
AA Change: R215C
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000023882 Gene: ENSMUSG00000023118 AA Change: R215C
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 benign
Transcript: ENSMUST00000146903
AA Change: R215C
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000138740 Gene: ENSMUSG00000023118 AA Change: R215C
Domain | Start | End | E-Value | Type |
Pfam:DUF3453
|
117 |
230 |
1.1e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153976
|
SMART Domains |
Protein: ENSMUSP00000121540 Gene: ENSMUSG00000023118
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 |
0.1910 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 94.8%
- 20x: 86.2%
|
Validation Efficiency |
100% (58/58) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
A |
T |
3: 121,563,162 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,676,940 (GRCm39) |
T1964A |
probably damaging |
Het |
Agbl5 |
C |
T |
5: 31,048,558 (GRCm39) |
T210I |
possibly damaging |
Het |
Ak5 |
T |
C |
3: 152,366,204 (GRCm39) |
T66A |
probably benign |
Het |
Aktip |
G |
A |
8: 91,856,279 (GRCm39) |
T66I |
possibly damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,344,556 (GRCm39) |
Y330C |
possibly damaging |
Het |
Btbd19 |
T |
G |
4: 116,979,454 (GRCm39) |
K122Q |
possibly damaging |
Het |
Cd180 |
A |
G |
13: 102,841,403 (GRCm39) |
T150A |
probably benign |
Het |
Celsr2 |
A |
G |
3: 108,319,674 (GRCm39) |
I1046T |
probably damaging |
Het |
Cep170 |
C |
T |
1: 176,621,117 (GRCm39) |
R20Q |
probably damaging |
Het |
Cercam |
T |
A |
2: 29,765,639 (GRCm39) |
N260K |
probably damaging |
Het |
Cfh |
T |
A |
1: 140,071,782 (GRCm39) |
H284L |
probably damaging |
Het |
Chmp5 |
A |
G |
4: 40,948,608 (GRCm39) |
M1V |
probably null |
Het |
Elp3 |
A |
T |
14: 65,815,389 (GRCm39) |
I220N |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,331,416 (GRCm39) |
T765A |
probably damaging |
Het |
Evi5l |
T |
C |
8: 4,256,019 (GRCm39) |
|
probably benign |
Het |
Gm5866 |
T |
G |
5: 52,740,234 (GRCm39) |
|
noncoding transcript |
Het |
Grik1 |
C |
A |
16: 87,746,986 (GRCm39) |
G417V |
probably benign |
Het |
Gtpbp1 |
T |
G |
15: 79,600,170 (GRCm39) |
I399R |
probably damaging |
Het |
Il17rc |
T |
C |
6: 113,449,284 (GRCm39) |
C14R |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,316,349 (GRCm39) |
|
probably null |
Het |
Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
Map3k15 |
T |
C |
X: 158,771,742 (GRCm39) |
V105A |
possibly damaging |
Het |
Mitf |
A |
G |
6: 97,987,406 (GRCm39) |
T320A |
possibly damaging |
Het |
Ncapd3 |
T |
G |
9: 26,963,015 (GRCm39) |
L440R |
probably damaging |
Het |
Nrxn2 |
C |
G |
19: 6,505,234 (GRCm39) |
A359G |
probably damaging |
Het |
P2rx3 |
T |
G |
2: 84,829,368 (GRCm39) |
I371L |
probably benign |
Het |
Pde1b |
C |
A |
15: 103,436,075 (GRCm39) |
Q493K |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,709,846 (GRCm39) |
F1503S |
probably damaging |
Het |
Ptprz1 |
T |
G |
6: 23,045,625 (GRCm39) |
W1283G |
probably damaging |
Het |
Rasd2 |
T |
A |
8: 75,948,564 (GRCm39) |
D163E |
possibly damaging |
Het |
Rgs11 |
A |
G |
17: 26,426,947 (GRCm39) |
|
probably benign |
Het |
Scap |
T |
C |
9: 110,182,220 (GRCm39) |
I37T |
possibly damaging |
Het |
Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
Slc25a54 |
A |
G |
3: 109,010,016 (GRCm39) |
I172V |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,336,744 (GRCm39) |
D171E |
probably damaging |
Het |
Tmco4 |
A |
G |
4: 138,785,817 (GRCm39) |
E629G |
probably benign |
Het |
Trav7-1 |
T |
G |
14: 52,892,765 (GRCm39) |
L106R |
possibly damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Utf1 |
T |
C |
7: 139,524,814 (GRCm39) |
|
probably benign |
Het |
Zdhhc13 |
A |
G |
7: 48,474,479 (GRCm39) |
N577S |
possibly damaging |
Het |
Zmym6 |
A |
G |
4: 127,017,767 (GRCm39) |
N1183D |
possibly 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 |
IGL02991:Sympk
|
UTSW |
7 |
18,764,502 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CATGGTGTCCTCTATGGCTG -3'
(R):5'- GGCAACAGCATTGTGGGATG -3'
Sequencing Primer
(F):5'- CCTCTATGGCTGGGGAAATCATC -3'
(R):5'- TTTACGGCAGGCAAGCACTTTAC -3'
|
Posted On |
2016-06-15 |