Incidental Mutation 'R5678:Sympk'
| ID |
442884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sympk
|
| Ensembl Gene |
ENSMUSG00000023118 |
| Gene Name |
symplekin |
| Synonyms |
1500016F02Rik, 4632415H16Rik |
| MMRRC Submission |
043317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R5678 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18758321-18788542 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 18783397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023882]
[ENSMUST00000023882]
[ENSMUST00000146903]
|
| AlphaFold |
Q80X82 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023882
|
| SMART Domains |
Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
| 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 null
Transcript: ENSMUST00000023882
|
| SMART Domains |
Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
| 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: ENSMUST00000130328
|
| SMART Domains |
Protein: ENSMUSP00000115900
Gene: ENSMUSG00000023118
| 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 |
probably benign
Transcript: ENSMUST00000146903
|
| SMART Domains |
Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3453
|
117 |
230 |
1.1e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148861
|
| Meta Mutation Damage Score |
0.9596 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,466,529 (GRCm39) |
T168A |
probably damaging |
Het |
| 3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
| A530016L24Rik |
T |
G |
12: 112,463,306 (GRCm39) |
C43W |
probably damaging |
Het |
| Aatk |
T |
C |
11: 119,900,980 (GRCm39) |
T1082A |
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,945,887 (GRCm39) |
F7I |
probably benign |
Het |
| Adgb |
T |
G |
10: 10,307,070 (GRCm39) |
S299R |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,041,494 (GRCm39) |
F738L |
possibly damaging |
Het |
| Art3 |
T |
C |
5: 92,540,409 (GRCm39) |
Y51H |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,833,540 (GRCm39) |
Q2597* |
probably null |
Het |
| Atrn |
T |
C |
2: 130,811,936 (GRCm39) |
V627A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,947,317 (GRCm39) |
K1111E |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,122,398 (GRCm39) |
S67P |
possibly damaging |
Het |
| Cd164 |
T |
C |
10: 41,395,948 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
C |
9: 15,234,154 (GRCm39) |
D2214G |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,284,199 (GRCm39) |
Y589C |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,536,239 (GRCm39) |
A998V |
unknown |
Het |
| Csrnp2 |
T |
C |
15: 100,379,685 (GRCm39) |
*535W |
probably null |
Het |
| Dhrs7 |
C |
T |
12: 72,704,106 (GRCm39) |
G130D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,677,074 (GRCm39) |
T477A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,592,100 (GRCm39) |
F725S |
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,381,029 (GRCm39) |
V508A |
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,879,053 (GRCm39) |
E595G |
probably damaging |
Het |
| Epha6 |
A |
T |
16: 59,639,342 (GRCm39) |
V844E |
probably damaging |
Het |
| Esrp2 |
G |
A |
8: 106,858,750 (GRCm39) |
A629V |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,483,172 (GRCm39) |
S1009P |
probably benign |
Het |
| Gm8257 |
A |
T |
14: 44,894,706 (GRCm39) |
I28N |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,207 (GRCm39) |
E4G |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,310,855 (GRCm39) |
V455A |
probably damaging |
Het |
| Lamtor2 |
A |
G |
3: 88,458,101 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,156,855 (GRCm39) |
C92R |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,098,266 (GRCm39) |
V1406A |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,199 (GRCm39) |
V31A |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,447,625 (GRCm39) |
F304L |
probably benign |
Het |
| Or4c108 |
A |
T |
2: 88,803,317 (GRCm39) |
L306* |
probably null |
Het |
| Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,604,979 (GRCm39) |
E43G |
possibly damaging |
Het |
| Rps6ka5 |
T |
C |
12: 100,691,135 (GRCm39) |
E2G |
unknown |
Het |
| Setd2 |
A |
G |
9: 110,431,254 (GRCm39) |
T5A |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,300,249 (GRCm39) |
I40T |
probably damaging |
Het |
| Srpk2 |
TCA |
T |
5: 23,729,604 (GRCm39) |
|
probably null |
Het |
| Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,933 (GRCm39) |
Q791L |
unknown |
Het |
| Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,719,319 (GRCm39) |
D1989G |
unknown |
Het |
| Utp20 |
A |
T |
10: 88,644,979 (GRCm39) |
H582Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,317,762 (GRCm39) |
I554T |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,110,425 (GRCm39) |
R372* |
probably null |
Het |
| Zfp119a |
T |
C |
17: 56,175,336 (GRCm39) |
E53G |
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 |
|
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 |
|
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'- GACACTGTCCACCAGAAGTAG -3'
(R):5'- ATGTCTGTATGTGGCCGCAG -3'
Sequencing Primer
(F):5'- TGTCCACCAGAAGTAGCCAATAG -3'
(R):5'- CGCAGGGACCAGGGATG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation