Incidental Mutation 'R5287:Sec23ip'
| ID |
424408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec23ip
|
| Ensembl Gene |
ENSMUSG00000055319 |
| Gene Name |
Sec23 interacting protein |
| Synonyms |
p125, D7Ertd373e |
| MMRRC Submission |
042871-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.583)
|
| Stock # |
R5287 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
128346667-128386560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128367860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 624
(E624G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042942]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042942
AA Change: E624G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: E624G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
513 |
585 |
8e-33 |
BLAST |
|
SAM
|
637 |
702 |
2.18e-9 |
SMART |
|
DDHD
|
777 |
987 |
1.33e-74 |
SMART |
|
| Meta Mutation Damage Score |
0.0704 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Male mice homozygous for a null allele display reduced fertility with globozoospermia and impaired fertilization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
C |
2: 93,666,298 (GRCm39) |
D463G |
probably damaging |
Het |
| Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
| Arpin |
T |
C |
7: 79,577,997 (GRCm39) |
E144G |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
| Asxl2 |
A |
G |
12: 3,546,893 (GRCm39) |
N559S |
probably benign |
Het |
| Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
| Btnl9 |
A |
G |
11: 49,060,434 (GRCm39) |
V438A |
probably benign |
Het |
| Cat |
T |
C |
2: 103,304,705 (GRCm39) |
T107A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,397,263 (GRCm39) |
Y1080C |
possibly damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,411,527 (GRCm39) |
F632I |
possibly damaging |
Het |
| Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
| Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,528,244 (GRCm39) |
|
probably benign |
Het |
| Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
| Dnm1l |
A |
C |
16: 16,151,732 (GRCm39) |
V240G |
probably damaging |
Het |
| Fezf1 |
C |
T |
6: 23,248,010 (GRCm39) |
V22M |
probably benign |
Het |
| Gm6818 |
T |
G |
7: 38,099,911 (GRCm39) |
|
noncoding transcript |
Het |
| Hand2 |
C |
T |
8: 57,775,080 (GRCm39) |
L47F |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
| Itga7 |
C |
A |
10: 128,779,027 (GRCm39) |
R351S |
probably benign |
Het |
| Mmp8 |
G |
T |
9: 7,567,507 (GRCm39) |
A456S |
probably benign |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,918,753 (GRCm39) |
F943S |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,028,825 (GRCm39) |
Y1668F |
probably damaging |
Het |
| Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
| Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
| Phkg2 |
GCTGCCGGACGAGTGGCCT |
GCT |
7: 127,181,929 (GRCm39) |
|
probably null |
Het |
| Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
| Ptprn2 |
A |
T |
12: 117,175,482 (GRCm39) |
M721L |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,073,607 (GRCm39) |
V1335A |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
C |
2: 128,434,560 (GRCm39) |
S46P |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,871 (GRCm39) |
R99G |
probably benign |
Het |
| T2 |
A |
T |
17: 8,636,835 (GRCm39) |
M57L |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,625,744 (GRCm39) |
S1402L |
probably benign |
Het |
| Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
| Tk1 |
A |
T |
11: 117,707,367 (GRCm39) |
V140E |
probably damaging |
Het |
| Tln2 |
G |
A |
9: 67,149,641 (GRCm39) |
T1192M |
probably damaging |
Het |
| Tmed8 |
C |
A |
12: 87,220,957 (GRCm39) |
A210S |
probably damaging |
Het |
| Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,562,436 (GRCm39) |
S28803Y |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,080,441 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
probably damaging |
Het |
|
| Other mutations in Sec23ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00825:Sec23ip
|
APN |
7 |
128,369,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01347:Sec23ip
|
APN |
7 |
128,364,129 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01358:Sec23ip
|
APN |
7 |
128,354,521 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01656:Sec23ip
|
APN |
7 |
128,351,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01835:Sec23ip
|
APN |
7 |
128,357,035 (GRCm39) |
splice site |
probably null |
|
|
IGL02233:Sec23ip
|
APN |
7 |
128,380,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:Sec23ip
|
APN |
7 |
128,378,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03381:Sec23ip
|
APN |
7 |
128,352,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0053:Sec23ip
|
UTSW |
7 |
128,346,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Sec23ip
|
UTSW |
7 |
128,380,775 (GRCm39) |
splice site |
probably benign |
|
|
R0360:Sec23ip
|
UTSW |
7 |
128,363,129 (GRCm39) |
splice site |
probably benign |
|
|
R1427:Sec23ip
|
UTSW |
7 |
128,378,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1442:Sec23ip
|
UTSW |
7 |
128,378,510 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1462:Sec23ip
|
UTSW |
7 |
128,367,862 (GRCm39) |
missense |
probably benign |
|
|
R1462:Sec23ip
|
UTSW |
7 |
128,367,862 (GRCm39) |
missense |
probably benign |
|
|
R1564:Sec23ip
|
UTSW |
7 |
128,368,005 (GRCm39) |
splice site |
probably null |
|
|
R1876:Sec23ip
|
UTSW |
7 |
128,354,575 (GRCm39) |
missense |
probably benign |
|
|
R1966:Sec23ip
|
UTSW |
7 |
128,357,077 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1977:Sec23ip
|
UTSW |
7 |
128,367,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Sec23ip
|
UTSW |
7 |
128,364,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2847:Sec23ip
|
UTSW |
7 |
128,355,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3958:Sec23ip
|
UTSW |
7 |
128,378,574 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3959:Sec23ip
|
UTSW |
7 |
128,378,574 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3960:Sec23ip
|
UTSW |
7 |
128,378,574 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4287:Sec23ip
|
UTSW |
7 |
128,379,057 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4510:Sec23ip
|
UTSW |
7 |
128,380,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Sec23ip
|
UTSW |
7 |
128,380,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Sec23ip
|
UTSW |
7 |
128,352,226 (GRCm39) |
nonsense |
probably null |
|
|
R4660:Sec23ip
|
UTSW |
7 |
128,352,010 (GRCm39) |
missense |
probably null |
0.00 |
|
R4890:Sec23ip
|
UTSW |
7 |
128,354,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5587:Sec23ip
|
UTSW |
7 |
128,352,151 (GRCm39) |
missense |
probably benign |
|
|
R5625:Sec23ip
|
UTSW |
7 |
128,346,707 (GRCm39) |
unclassified |
probably benign |
|
|
R5656:Sec23ip
|
UTSW |
7 |
128,378,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5808:Sec23ip
|
UTSW |
7 |
128,373,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6034:Sec23ip
|
UTSW |
7 |
128,351,927 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6034:Sec23ip
|
UTSW |
7 |
128,351,927 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6145:Sec23ip
|
UTSW |
7 |
128,380,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6747:Sec23ip
|
UTSW |
7 |
128,354,573 (GRCm39) |
synonymous |
silent |
|
|
R6953:Sec23ip
|
UTSW |
7 |
128,354,520 (GRCm39) |
nonsense |
probably null |
|
|
R6992:Sec23ip
|
UTSW |
7 |
128,367,164 (GRCm39) |
missense |
probably benign |
|
|
R7131:Sec23ip
|
UTSW |
7 |
128,381,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Sec23ip
|
UTSW |
7 |
128,364,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7387:Sec23ip
|
UTSW |
7 |
128,346,727 (GRCm39) |
unclassified |
probably benign |
|
|
R7559:Sec23ip
|
UTSW |
7 |
128,379,074 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7975:Sec23ip
|
UTSW |
7 |
128,364,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Sec23ip
|
UTSW |
7 |
128,369,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8337:Sec23ip
|
UTSW |
7 |
128,365,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8409:Sec23ip
|
UTSW |
7 |
128,365,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Sec23ip
|
UTSW |
7 |
128,380,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8434:Sec23ip
|
UTSW |
7 |
128,352,151 (GRCm39) |
missense |
probably benign |
|
|
R8461:Sec23ip
|
UTSW |
7 |
128,373,926 (GRCm39) |
missense |
probably benign |
|
|
R8553:Sec23ip
|
UTSW |
7 |
128,355,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Sec23ip
|
UTSW |
7 |
128,354,467 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9059:Sec23ip
|
UTSW |
7 |
128,365,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9142:Sec23ip
|
UTSW |
7 |
128,363,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Sec23ip
|
UTSW |
7 |
128,380,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAGGCTTAGGATTTCTAAAAGTAA -3'
(R):5'- AAACGTTTAAGTTTTGGGCTTATTTG -3'
Sequencing Primer
(F):5'- ATCCAGGTGAAAGATGGC -3'
(R):5'- GTAGTCAAACAGGCTGAGT -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation