Incidental Mutation 'R9075:Sympk'
ID |
689731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sympk
|
Ensembl Gene |
ENSMUSG00000023118 |
Gene Name |
symplekin |
Synonyms |
1500016F02Rik, 4632415H16Rik |
MMRRC Submission |
068896-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R9075 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18758321-18788542 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18776563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 485
(E485G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023882]
[ENSMUST00000146903]
|
AlphaFold |
Q80X82 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023882
AA Change: E485G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000023882 Gene: ENSMUSG00000023118 AA Change: E485G
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 |
probably benign
Transcript: ENSMUST00000146903
|
SMART Domains |
Protein: ENSMUSP00000138740 Gene: ENSMUSG00000023118
Domain | Start | End | E-Value | Type |
Pfam:DUF3453
|
117 |
230 |
1.1e-35 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (50/50) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
G |
1: 120,097,014 (GRCm39) |
S137A |
|
Het |
Actl6a |
G |
T |
3: 32,769,641 (GRCm39) |
C152F |
possibly damaging |
Het |
Adam26b |
A |
T |
8: 43,973,405 (GRCm39) |
D532E |
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,598,793 (GRCm39) |
N878S |
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,975,597 (GRCm39) |
S387P |
possibly damaging |
Het |
Cdh23 |
A |
G |
10: 60,153,541 (GRCm39) |
S2350P |
probably damaging |
Het |
Cdh4 |
A |
G |
2: 179,501,940 (GRCm39) |
D300G |
probably damaging |
Het |
Cngb1 |
T |
C |
8: 95,979,993 (GRCm39) |
Y969C |
probably damaging |
Het |
Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
Fam168a |
T |
A |
7: 100,484,582 (GRCm39) |
V224D |
probably damaging |
Het |
Fam210a |
C |
T |
18: 68,405,693 (GRCm39) |
V177M |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,447,646 (GRCm39) |
I1150F |
probably damaging |
Het |
Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
Gm11555 |
C |
T |
11: 99,540,694 (GRCm39) |
C95Y |
|
Het |
Gns |
A |
G |
10: 121,226,542 (GRCm39) |
N397S |
probably benign |
Het |
Grin2b |
CA |
C |
6: 135,709,509 (GRCm39) |
|
probably null |
Het |
Ifi204 |
T |
A |
1: 173,589,282 (GRCm39) |
N50Y |
possibly damaging |
Het |
Iqub |
T |
A |
6: 24,446,124 (GRCm39) |
I767F |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,857,588 (GRCm39) |
L3087Q |
probably damaging |
Het |
Mars2 |
A |
G |
1: 55,278,154 (GRCm39) |
T586A |
probably damaging |
Het |
Mrps28 |
G |
T |
3: 8,867,312 (GRCm39) |
S185R |
probably benign |
Het |
Nphp4 |
T |
C |
4: 152,591,905 (GRCm39) |
Y363H |
probably damaging |
Het |
Nploc4 |
T |
C |
11: 120,304,526 (GRCm39) |
T232A |
possibly damaging |
Het |
Pate3 |
A |
G |
9: 35,557,893 (GRCm39) |
|
probably null |
Het |
Pcdh18 |
G |
A |
3: 49,699,339 (GRCm39) |
A1041V |
probably benign |
Het |
Plpp5 |
T |
A |
8: 26,210,379 (GRCm39) |
Y50N |
probably benign |
Het |
Ppp4r4 |
G |
T |
12: 103,570,290 (GRCm39) |
G755* |
probably null |
Het |
Psmd14 |
T |
A |
2: 61,607,021 (GRCm39) |
V156D |
probably damaging |
Het |
Ptch1 |
G |
A |
13: 63,681,335 (GRCm39) |
R651C |
possibly damaging |
Het |
Rai14 |
T |
C |
15: 10,589,403 (GRCm39) |
E265G |
probably damaging |
Het |
Rbmx |
G |
A |
X: 56,432,717 (GRCm39) |
P301L |
probably benign |
Het |
Rimbp2 |
T |
A |
5: 128,851,312 (GRCm39) |
D878V |
probably damaging |
Het |
Sarm1 |
T |
C |
11: 78,374,023 (GRCm39) |
K668R |
probably benign |
Het |
Slc10a2 |
C |
A |
8: 5,155,267 (GRCm39) |
|
probably benign |
Het |
Slc15a3 |
T |
C |
19: 10,826,094 (GRCm39) |
S262P |
probably damaging |
Het |
Slf2 |
T |
C |
19: 44,930,860 (GRCm39) |
Y646H |
probably damaging |
Het |
Smpd4 |
C |
T |
16: 17,457,849 (GRCm39) |
P406S |
unknown |
Het |
Sv2b |
A |
G |
7: 74,789,845 (GRCm39) |
V396A |
possibly damaging |
Het |
Swt1 |
A |
G |
1: 151,246,245 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,982,501 (GRCm39) |
V762A |
probably benign |
Het |
Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
Tie1 |
C |
A |
4: 118,341,356 (GRCm39) |
G275V |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,754,259 (GRCm39) |
Y998C |
probably damaging |
Het |
Trappc10 |
A |
T |
10: 78,040,130 (GRCm39) |
V607E |
possibly damaging |
Het |
Trim69 |
A |
T |
2: 122,009,264 (GRCm39) |
R441S |
probably benign |
Het |
Trio |
G |
T |
15: 27,774,022 (GRCm39) |
S1814* |
probably null |
Het |
Vmn1r192 |
C |
T |
13: 22,371,333 (GRCm39) |
V296I |
probably benign |
Het |
Vmn1r223 |
A |
G |
13: 23,433,600 (GRCm39) |
S65G |
possibly damaging |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn2r41 |
A |
G |
7: 8,141,250 (GRCm39) |
V738A |
probably benign |
Het |
Zfp408 |
A |
G |
2: 91,476,065 (GRCm39) |
V363A |
possibly damaging |
Het |
Zfp583 |
A |
T |
7: 6,319,870 (GRCm39) |
C381S |
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 |
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 |
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 |
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'- TAGTCTGGCTCCATCCTTGG -3'
(R):5'- GTCCCTGCACTGACTTTGAG -3'
Sequencing Primer
(F):5'- CCATCCTTGGATCATTTGTTAGG -3'
(R):5'- GCCTTACACTCACAGGGC -3'
|
Posted On |
2021-11-19 |