Incidental Mutation 'IGL02814:Sympk'
| ID |
360744 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sympk
|
| Ensembl Gene |
ENSMUSG00000023118 |
| Gene Name |
symplekin |
| Synonyms |
1500016F02Rik, 4632415H16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL02814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18758321-18788542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18787198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1029
(W1029R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023882]
[ENSMUST00000035521]
[ENSMUST00000076887]
[ENSMUST00000146903]
|
| AlphaFold |
Q80X82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023882
AA Change: W1029R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: W1029R
| 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: ENSMUST00000035521
|
| SMART Domains |
Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Pfam:Radial_spoke
|
191 |
685 |
2.3e-200 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076887
|
| SMART Domains |
Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Pfam:Radial_spoke
|
188 |
287 |
3e-18 |
PFAM |
|
Pfam:Radial_spoke
|
285 |
433 |
4.6e-53 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130328
AA Change: W52R
|
| SMART Domains |
Protein: ENSMUSP00000115900
Gene: ENSMUSG00000023118
AA Change: W52R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Symplekin_C
|
1 |
92 |
3.9e-44 |
PFAM |
|
low complexity region
|
125 |
143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138440
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148861
|
| 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 |
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,045,293 (GRCm39) |
F347I |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,124,019 (GRCm39) |
T1233A |
probably benign |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,321,706 (GRCm39) |
E1083G |
probably damaging |
Het |
| Capn8 |
C |
A |
1: 182,426,336 (GRCm39) |
L224M |
probably damaging |
Het |
| Cdh4 |
A |
T |
2: 179,422,267 (GRCm39) |
E130D |
probably benign |
Het |
| Cgn |
G |
A |
3: 94,681,550 (GRCm39) |
T515M |
probably benign |
Het |
| Chrna10 |
C |
T |
7: 101,761,469 (GRCm39) |
G374D |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,686,506 (GRCm39) |
Y38F |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,471,525 (GRCm39) |
D621G |
probably benign |
Het |
| Cyp4f37 |
T |
C |
17: 32,853,645 (GRCm39) |
F443S |
probably benign |
Het |
| Dctn1 |
C |
A |
6: 83,166,896 (GRCm39) |
A152E |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,748,791 (GRCm39) |
Y228* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,242,839 (GRCm39) |
C846* |
probably null |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,420,345 (GRCm39) |
S833G |
possibly damaging |
Het |
| Gda |
T |
C |
19: 21,405,839 (GRCm39) |
|
probably null |
Het |
| Gjb5 |
C |
T |
4: 127,249,355 (GRCm39) |
R263Q |
probably benign |
Het |
| Gtf2i |
T |
C |
5: 134,315,558 (GRCm39) |
K193E |
probably damaging |
Het |
| H4c14 |
C |
A |
3: 96,170,603 (GRCm39) |
K6N |
probably benign |
Het |
| Ints1 |
C |
T |
5: 139,758,146 (GRCm39) |
E244K |
possibly damaging |
Het |
| Kat14 |
G |
A |
2: 144,244,383 (GRCm39) |
S412N |
probably benign |
Het |
| Kcnn3 |
A |
T |
3: 89,428,482 (GRCm39) |
H236L |
possibly damaging |
Het |
| Kif15 |
T |
A |
9: 122,832,705 (GRCm39) |
I1005K |
possibly damaging |
Het |
| Klrc1 |
T |
C |
6: 129,655,855 (GRCm39) |
T7A |
possibly damaging |
Het |
| Lcp2 |
T |
C |
11: 34,021,033 (GRCm39) |
S130P |
probably damaging |
Het |
| Ldha |
T |
A |
7: 46,500,315 (GRCm39) |
Y133* |
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,337,080 (GRCm39) |
C1231R |
probably damaging |
Het |
| Lrrn1 |
T |
A |
6: 107,544,313 (GRCm39) |
V37D |
probably damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,112 (GRCm39) |
H648L |
probably benign |
Het |
| Mmp25 |
C |
T |
17: 23,858,736 (GRCm39) |
G272R |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,965,801 (GRCm39) |
|
probably benign |
Het |
| Myl3 |
G |
T |
9: 110,597,059 (GRCm39) |
E140* |
probably null |
Het |
| Nlrp4f |
A |
G |
13: 65,332,856 (GRCm39) |
S809P |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,394 (GRCm39) |
I207M |
probably null |
Het |
| Or13a26 |
T |
C |
7: 140,285,046 (GRCm39) |
L294P |
probably damaging |
Het |
| Or2y8 |
C |
T |
11: 52,035,637 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or5p54 |
T |
C |
7: 107,553,977 (GRCm39) |
I43T |
probably benign |
Het |
| Paics |
T |
G |
5: 77,110,320 (GRCm39) |
V245G |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,255 (GRCm39) |
F95L |
probably damaging |
Het |
| Pde4dip |
A |
C |
3: 97,674,416 (GRCm39) |
C167G |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,840,957 (GRCm39) |
T542K |
possibly damaging |
Het |
| Piezo1 |
A |
G |
8: 123,224,954 (GRCm39) |
Y651H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,289,353 (GRCm39) |
C1208* |
probably null |
Het |
| Pkd1l1 |
T |
A |
11: 8,852,582 (GRCm39) |
T634S |
probably benign |
Het |
| Rab32 |
T |
C |
10: 10,422,171 (GRCm39) |
T183A |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,621,583 (GRCm39) |
I206V |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,975 (GRCm39) |
I398V |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,159,725 (GRCm39) |
E101G |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,310,434 (GRCm39) |
L388P |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,339,588 (GRCm39) |
Y129C |
probably damaging |
Het |
| Slc7a13 |
G |
A |
4: 19,839,387 (GRCm39) |
C330Y |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,735,486 (GRCm39) |
V101E |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,992,150 (GRCm39) |
H2008Q |
possibly damaging |
Het |
| Tgs1 |
T |
A |
4: 3,585,719 (GRCm39) |
Y199N |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,188,228 (GRCm39) |
C481* |
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,898,170 (GRCm39) |
E395G |
probably damaging |
Het |
| Wfs1 |
A |
C |
5: 37,125,013 (GRCm39) |
V626G |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,044,193 (GRCm39) |
S146P |
possibly damaging |
Het |
| Zfp786 |
T |
C |
6: 47,796,775 (GRCm39) |
H721R |
probably damaging |
Het |
| Zfta |
C |
A |
19: 7,397,787 (GRCm39) |
N111K |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation