Incidental Mutation 'R7887:Sympk'
| ID |
609117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sympk
|
| Ensembl Gene |
ENSMUSG00000023118 |
| Gene Name |
symplekin |
| Synonyms |
1500016F02Rik, 4632415H16Rik |
| MMRRC Submission |
045939-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R7887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18758321-18788542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18768364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 111
(I111T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023882]
[ENSMUST00000146903]
[ENSMUST00000153976]
|
| AlphaFold |
Q80X82 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023882
AA Change: I111T
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: I111T
| 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 |
possibly damaging
Transcript: ENSMUST00000146903
AA Change: I111T
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118
AA Change: I111T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3453
|
117 |
230 |
1.1e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153976
AA Change: I111T
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121540
Gene: ENSMUSG00000023118
AA Change: I111T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cohesin_HEAT
|
48 |
96 |
9e-7 |
PFAM |
|
Pfam:DUF3453
|
117 |
198 |
2.2e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh8 |
T |
A |
9: 3,385,343 (GRCm39) |
I580N |
probably damaging |
Het |
| Ankrd35 |
C |
T |
3: 96,592,216 (GRCm39) |
T834M |
probably damaging |
Het |
| Astn2 |
C |
T |
4: 65,563,103 (GRCm39) |
V893I |
possibly damaging |
Het |
| B4galt1 |
A |
G |
4: 40,823,501 (GRCm39) |
Y197H |
probably benign |
Het |
| Brdt |
T |
C |
5: 107,507,799 (GRCm39) |
S676P |
possibly damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,678,457 (GRCm39) |
V343A |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 61,394,433 (GRCm39) |
M59K |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,909,990 (GRCm39) |
N529I |
probably damaging |
Het |
| Crcp |
G |
T |
5: 130,066,711 (GRCm39) |
K32N |
possibly damaging |
Het |
| Ddx54 |
C |
T |
5: 120,765,268 (GRCm39) |
R846C |
probably damaging |
Het |
| Dennd6a |
T |
C |
14: 26,320,812 (GRCm39) |
S118P |
possibly damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,651 (GRCm39) |
Y116C |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,478,662 (GRCm39) |
|
probably null |
Het |
| Focad |
T |
G |
4: 88,100,853 (GRCm39) |
I313M |
probably damaging |
Het |
| Gm10272 |
C |
T |
10: 77,542,779 (GRCm39) |
P107L |
probably benign |
Het |
| Gpr26 |
A |
C |
7: 131,568,702 (GRCm39) |
I16L |
probably benign |
Het |
| Gpr39 |
C |
A |
1: 125,605,279 (GRCm39) |
T69K |
probably damaging |
Het |
| Hacl1 |
C |
T |
14: 31,356,184 (GRCm39) |
G97S |
probably damaging |
Het |
| Idh3b |
A |
C |
2: 130,123,678 (GRCm39) |
D136E |
probably damaging |
Het |
| Irf6 |
G |
A |
1: 192,850,040 (GRCm39) |
V321M |
probably damaging |
Het |
| Klrg2 |
T |
A |
6: 38,613,506 (GRCm39) |
T166S |
probably damaging |
Het |
| Lnx2 |
T |
C |
5: 146,955,853 (GRCm39) |
I648V |
probably damaging |
Het |
| Mecr |
A |
G |
4: 131,588,177 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
T |
A |
12: 73,234,965 (GRCm39) |
S205T |
probably benign |
Het |
| Mpnd |
G |
A |
17: 56,318,097 (GRCm39) |
G204D |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
| Nid1 |
G |
T |
13: 13,674,318 (GRCm39) |
R899L |
possibly damaging |
Het |
| Nisch |
C |
T |
14: 30,898,652 (GRCm39) |
W664* |
probably null |
Het |
| Nudt6 |
C |
T |
3: 37,466,529 (GRCm39) |
V157I |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or51h7 |
A |
C |
7: 102,591,358 (GRCm39) |
L142R |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,224 (GRCm39) |
M118V |
probably damaging |
Het |
| Or8g31-ps1 |
A |
T |
9: 39,276,175 (GRCm39) |
M107L |
unknown |
Het |
| Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
| Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
| Phf11d |
A |
G |
14: 59,597,029 (GRCm39) |
Y57H |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,713,524 (GRCm39) |
V99A |
probably benign |
Het |
| Rnf144b |
T |
A |
13: 47,393,287 (GRCm39) |
C209S |
probably damaging |
Het |
| Scly |
G |
A |
1: 91,228,363 (GRCm39) |
|
probably null |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,255,133 (GRCm39) |
Y872C |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,099,410 (GRCm39) |
|
probably null |
Het |
| Strap |
T |
G |
6: 137,716,807 (GRCm39) |
L129V |
possibly damaging |
Het |
| Tprn |
C |
A |
2: 25,154,024 (GRCm39) |
A442E |
probably damaging |
Het |
| Tsen34 |
T |
C |
7: 3,697,707 (GRCm39) |
L36P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,135,121 (GRCm39) |
F818L |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,247,115 (GRCm39) |
Y294C |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,910,906 (GRCm39) |
K862E |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,956 (GRCm39) |
I57F |
probably damaging |
Het |
| Wdr64 |
C |
T |
1: 175,613,111 (GRCm39) |
A662V |
not run |
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 |
|
|
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'- ATGTAGATGGTACCAGGGGC -3'
(R):5'- ATGCCCAGCCTTAACCTCAG -3'
Sequencing Primer
(F):5'- TCCACGATGTAGGGAGGCATC -3'
(R):5'- TTAACCTCAGCAGCCGGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation