Incidental Mutation 'R6984:Sympk'
| ID |
542836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sympk
|
| Ensembl Gene |
ENSMUSG00000023118 |
| Gene Name |
symplekin |
| Synonyms |
1500016F02Rik, 4632415H16Rik |
| MMRRC Submission |
045091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R6984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18758321-18788542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18771968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 344
(D344G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023882]
[ENSMUST00000146903]
[ENSMUST00000153976]
|
| AlphaFold |
Q80X82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023882
AA Change: D344G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: D344G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153976
|
| SMART Domains |
Protein: ENSMUSP00000121540
Gene: ENSMUSG00000023118
| 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: 99.9%
- 10x: 99.1%
- 20x: 96.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,383,937 (GRCm39) |
V676A |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,891,012 (GRCm39) |
M495T |
possibly damaging |
Het |
| Aktip |
A |
T |
8: 91,853,346 (GRCm39) |
F124I |
probably damaging |
Het |
| Alpk2 |
C |
A |
18: 65,438,749 (GRCm39) |
Q1348H |
possibly damaging |
Het |
| Apol11b |
T |
C |
15: 77,519,546 (GRCm39) |
D178G |
probably benign |
Het |
| Asb15 |
A |
T |
6: 24,566,336 (GRCm39) |
I430F |
probably benign |
Het |
| Chd2 |
A |
C |
7: 73,134,159 (GRCm39) |
Y729* |
probably null |
Het |
| Cpb2 |
T |
C |
14: 75,502,898 (GRCm39) |
V159A |
possibly damaging |
Het |
| Csf2rb |
A |
G |
15: 78,229,719 (GRCm39) |
S429G |
probably damaging |
Het |
| Ctsw |
C |
T |
19: 5,516,646 (GRCm39) |
R133H |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,485 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,958,712 (GRCm39) |
G2185R |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Enthd1 |
A |
T |
15: 80,444,309 (GRCm39) |
I82N |
probably damaging |
Het |
| Epx |
T |
A |
11: 87,759,424 (GRCm39) |
D555V |
probably damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,351,823 (GRCm39) |
D1134A |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,702,734 (GRCm39) |
V82D |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,665,238 (GRCm39) |
F960I |
probably damaging |
Het |
| Gsdmc2 |
A |
T |
15: 63,696,898 (GRCm39) |
Y424* |
probably null |
Het |
| Hsd3b7 |
T |
A |
7: 127,400,717 (GRCm39) |
I57N |
probably damaging |
Het |
| Ighv10-1 |
A |
T |
12: 114,442,702 (GRCm39) |
D94E |
possibly damaging |
Het |
| Ighv3-3 |
A |
G |
12: 114,160,350 (GRCm39) |
V20A |
possibly damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,126,433 (GRCm39) |
C220F |
probably benign |
Het |
| Kctd16 |
G |
A |
18: 40,390,101 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,753 (GRCm39) |
K632E |
unknown |
Het |
| Lama1 |
G |
A |
17: 68,086,107 (GRCm39) |
V1449M |
|
Het |
| Lgr6 |
A |
G |
1: 134,915,740 (GRCm39) |
I336T |
possibly damaging |
Het |
| Lrp1b |
A |
C |
2: 40,712,640 (GRCm39) |
D3117E |
probably damaging |
Het |
| Lrrc4b |
A |
T |
7: 44,110,722 (GRCm39) |
E198V |
possibly damaging |
Het |
| Map2 |
A |
T |
1: 66,454,395 (GRCm39) |
D1095V |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,217,072 (GRCm39) |
S417T |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,368 (GRCm39) |
V94A |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,593,734 (GRCm39) |
I637V |
probably benign |
Het |
| Mpp7 |
C |
T |
18: 7,441,623 (GRCm39) |
G182D |
probably damaging |
Het |
| Myh15 |
G |
A |
16: 48,930,775 (GRCm39) |
G583D |
probably damaging |
Het |
| Naa15 |
A |
G |
3: 51,380,021 (GRCm39) |
T750A |
probably benign |
Het |
| Or10d5b |
C |
T |
9: 39,886,030 (GRCm39) |
V30I |
unknown |
Het |
| Or10v5 |
T |
A |
19: 11,805,668 (GRCm39) |
T241S |
probably damaging |
Het |
| Or1e30 |
G |
A |
11: 73,678,603 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pgm1 |
A |
T |
4: 99,786,851 (GRCm39) |
Q30L |
probably benign |
Het |
| Pi4kb |
C |
T |
3: 94,904,245 (GRCm39) |
R238C |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,527 (GRCm39) |
E3497G |
probably damaging |
Het |
| Plpp4 |
C |
T |
7: 128,992,616 (GRCm39) |
A218V |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,667,392 (GRCm39) |
A1094V |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,191 (GRCm39) |
D154V |
probably benign |
Het |
| Prrt4 |
G |
T |
6: 29,171,429 (GRCm39) |
P341Q |
probably benign |
Het |
| Psd3 |
A |
G |
8: 68,270,697 (GRCm39) |
V21A |
possibly damaging |
Het |
| Rhot1 |
T |
A |
11: 80,124,310 (GRCm39) |
C157* |
probably null |
Het |
| Rnase9 |
C |
T |
14: 51,276,673 (GRCm39) |
V102M |
probably benign |
Het |
| Rpgrip1l |
A |
C |
8: 91,987,426 (GRCm39) |
M877R |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,705,436 (GRCm39) |
Y806C |
probably damaging |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Tcf12 |
G |
A |
9: 71,914,041 (GRCm39) |
Q76* |
probably null |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Ttc19 |
A |
G |
11: 62,204,863 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,533 (GRCm39) |
D610E |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,047,209 (GRCm39) |
T701A |
possibly damaging |
Het |
| Zfp268 |
T |
C |
4: 145,347,186 (GRCm39) |
L30P |
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 |
|
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'- TTGAGAACTGTCCACCGCAC -3'
(R):5'- AGACCATTTGCTCCTAGACTATTC -3'
Sequencing Primer
(F):5'- TGTCCACCGCACTGAGCTC -3'
(R):5'- ATTTGCTCCTAGACTATTCTCAAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation