Incidental Mutation 'IGL01834:Sympk'
| ID |
154886 |
| 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 # |
IGL01834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18758321-18788542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18777360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 537
(A537S)
|
| 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: A537S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: A537S
| 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: ENSMUST00000138440
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,348,183 (GRCm39) |
I634V |
possibly damaging |
Het |
| Atp13a4 |
T |
G |
16: 29,234,595 (GRCm39) |
|
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,489 (GRCm39) |
Q243L |
probably benign |
Het |
| C2cd6 |
G |
A |
1: 59,036,604 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,137,251 (GRCm39) |
|
probably null |
Het |
| Cd2ap |
T |
A |
17: 43,137,252 (GRCm39) |
|
probably null |
Het |
| Cd86 |
G |
A |
16: 36,427,481 (GRCm39) |
R283W |
probably benign |
Het |
| CK137956 |
T |
A |
4: 127,840,442 (GRCm39) |
K421N |
probably damaging |
Het |
| Coro2b |
G |
A |
9: 62,338,639 (GRCm39) |
T193I |
possibly damaging |
Het |
| Dido1 |
G |
A |
2: 180,325,824 (GRCm39) |
|
probably benign |
Het |
| Fas |
A |
G |
19: 34,296,003 (GRCm39) |
T149A |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,273,468 (GRCm39) |
I121F |
probably damaging |
Het |
| Hes3 |
C |
T |
4: 152,371,557 (GRCm39) |
A106T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,105 (GRCm39) |
Y253H |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,802,731 (GRCm39) |
|
probably null |
Het |
| Klhl12 |
C |
A |
1: 134,417,158 (GRCm39) |
R557S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,600,453 (GRCm39) |
T315A |
probably benign |
Het |
| Mchr1 |
A |
G |
15: 81,122,066 (GRCm39) |
Y272C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,538,071 (GRCm39) |
I1202V |
probably benign |
Het |
| Mrpl38 |
T |
A |
11: 116,026,140 (GRCm39) |
K87* |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,293,140 (GRCm39) |
T632A |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,808,962 (GRCm39) |
I1767T |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,807,901 (GRCm39) |
H1630Q |
possibly damaging |
Het |
| Naprt |
A |
G |
15: 75,765,648 (GRCm39) |
F92S |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,668 (GRCm39) |
I11N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,860 (GRCm39) |
Y291C |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,556,564 (GRCm39) |
T306A |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,711,279 (GRCm39) |
F12S |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,692 (GRCm39) |
N613Y |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,925,446 (GRCm39) |
I731T |
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,046,832 (GRCm39) |
T465I |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,454,773 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,610,311 (GRCm39) |
I607L |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,720,073 (GRCm39) |
|
probably benign |
Het |
| Srek1 |
C |
A |
13: 103,885,293 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,701,147 (GRCm39) |
T377A |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,739,898 (GRCm39) |
S518P |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,523,475 (GRCm39) |
K45E |
probably benign |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,554 (GRCm39) |
F124L |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,061,576 (GRCm39) |
Y133H |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,354 (GRCm39) |
E578D |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,567,133 (GRCm39) |
|
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,811,371 (GRCm39) |
N510D |
probably benign |
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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation