Incidental Mutation 'R3930:Sympk'
| ID |
308422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sympk
|
| Ensembl Gene |
ENSMUSG00000023118 |
| Gene Name |
symplekin |
| Synonyms |
1500016F02Rik, 4632415H16Rik |
| MMRRC Submission |
040917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R3930 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18758321-18788542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18781447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 801
(N801S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023882]
[ENSMUST00000146903]
|
| AlphaFold |
Q80X82 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023882
AA Change: N801S
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: N801S
| 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 |
0.1701 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (58/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
C |
T |
4: 144,396,698 (GRCm39) |
E345K |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,057,242 (GRCm39) |
N400S |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,044,377 (GRCm39) |
S22T |
probably benign |
Het |
| Cyp4a10 |
G |
T |
4: 115,381,980 (GRCm39) |
V221L |
probably benign |
Het |
| D1Pas1 |
G |
T |
1: 186,700,477 (GRCm39) |
W135C |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
C |
1: 161,911,699 (GRCm39) |
D66G |
probably damaging |
Het |
| Fzd10 |
G |
A |
5: 128,679,476 (GRCm39) |
V399M |
probably damaging |
Het |
| Gm10801 |
T |
A |
2: 98,494,361 (GRCm39) |
I146N |
possibly damaging |
Het |
| Gm525 |
T |
A |
11: 88,965,830 (GRCm39) |
|
probably null |
Het |
| Gpr37l1 |
T |
C |
1: 135,089,100 (GRCm39) |
I322V |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,371,794 (GRCm39) |
S679R |
probably damaging |
Het |
| Gyg1 |
A |
T |
3: 20,209,189 (GRCm39) |
S15T |
probably benign |
Het |
| Hace1 |
G |
A |
10: 45,587,604 (GRCm39) |
C901Y |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
C |
T |
4: 137,949,018 (GRCm39) |
A27V |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,924,716 (GRCm39) |
I1034V |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,371,802 (GRCm39) |
T1159A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Lrrc45 |
C |
T |
11: 120,609,503 (GRCm39) |
A422V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,651,664 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
T |
C |
17: 12,454,880 (GRCm39) |
H1370R |
possibly damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nfkbil1 |
G |
T |
17: 35,439,932 (GRCm39) |
Q194K |
probably benign |
Het |
| Nin |
C |
T |
12: 70,125,016 (GRCm39) |
G102E |
probably damaging |
Het |
| Nmt1 |
T |
C |
11: 102,943,059 (GRCm39) |
V138A |
probably benign |
Het |
| Optc |
T |
A |
1: 133,828,920 (GRCm39) |
R176* |
probably null |
Het |
| Or10aa3 |
A |
T |
1: 173,878,076 (GRCm39) |
I46F |
probably damaging |
Het |
| Or4c110 |
A |
G |
2: 88,832,377 (GRCm39) |
F85S |
probably benign |
Het |
| Or52ae9 |
A |
C |
7: 103,389,794 (GRCm39) |
Y218D |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Plxna2 |
G |
A |
1: 194,477,218 (GRCm39) |
A1243T |
probably benign |
Het |
| Rin1 |
G |
T |
19: 5,103,002 (GRCm39) |
L430F |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,070,944 (GRCm39) |
S37T |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,983,732 (GRCm39) |
Q27K |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Sfrp5 |
T |
G |
19: 42,190,257 (GRCm39) |
Y65S |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,023,820 (GRCm39) |
L472I |
probably benign |
Het |
| Slc35d3 |
T |
C |
10: 19,724,605 (GRCm39) |
E417G |
probably damaging |
Het |
| Sumf2 |
A |
G |
5: 129,878,820 (GRCm39) |
D52G |
probably benign |
Het |
| Taf7l2 |
G |
T |
10: 115,948,540 (GRCm39) |
Q329K |
possibly damaging |
Het |
| Tcstv2c |
G |
A |
13: 120,616,368 (GRCm39) |
C69Y |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,854,398 (GRCm39) |
F210S |
probably damaging |
Het |
| Tnks |
T |
A |
8: 35,407,966 (GRCm39) |
H254L |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,237 (GRCm39) |
V451E |
probably benign |
Het |
| Trim43a |
A |
T |
9: 88,465,131 (GRCm39) |
I153F |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,572,683 (GRCm39) |
N213S |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,746,951 (GRCm39) |
D830G |
probably benign |
Het |
| Uqcc3 |
C |
T |
19: 8,858,069 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
A |
6: 124,002,938 (GRCm39) |
M116K |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,552,800 (GRCm39) |
Q208R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGTTAGCTTCGCACATC -3'
(R):5'- GCACTATGCCTCCCTACATG -3'
Sequencing Primer
(F):5'- ACATCTTCCCACTGACTTCACTGAG -3'
(R):5'- GCCTCCCTACATGTTGAAGAATGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation