Incidental Mutation 'R5808:Sec23ip'
ID |
448839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sec23ip
|
Ensembl Gene |
ENSMUSG00000055319 |
Gene Name |
Sec23 interacting protein |
Synonyms |
p125, D7Ertd373e |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.583)
|
Stock # |
R5808 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
128346667-128386560 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 128373908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 710
(A710E)
|
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: A710E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000035610 Gene: ENSMUSG00000055319 AA Change: A710E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104095
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
C |
T |
10: 76,286,482 (GRCm39) |
R6W |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,987,599 (GRCm39) |
V2961E |
possibly damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,685,561 (GRCm39) |
Y330N |
possibly damaging |
Het |
Bag6 |
A |
G |
17: 35,365,298 (GRCm39) |
Y1041C |
probably damaging |
Het |
Baz1b |
T |
A |
5: 135,250,812 (GRCm39) |
V866E |
probably benign |
Het |
Bmpr2 |
A |
T |
1: 59,906,560 (GRCm39) |
Y551F |
probably benign |
Het |
Cage1 |
A |
G |
13: 38,206,301 (GRCm39) |
|
probably benign |
Het |
Caskin2 |
G |
T |
11: 115,692,589 (GRCm39) |
P732Q |
probably damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,359,746 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
A |
T |
10: 41,531,500 (GRCm39) |
M502K |
possibly damaging |
Het |
Cfap157 |
T |
C |
2: 32,670,657 (GRCm39) |
D197G |
probably damaging |
Het |
CN725425 |
T |
A |
15: 91,129,847 (GRCm39) |
S237T |
probably benign |
Het |
Defb40 |
T |
C |
8: 19,025,095 (GRCm39) |
H37R |
probably benign |
Het |
Dis3l2 |
A |
C |
1: 86,977,360 (GRCm39) |
S836R |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,568,724 (GRCm39) |
I2818T |
possibly damaging |
Het |
Dpysl2 |
T |
A |
14: 67,102,621 (GRCm39) |
|
probably null |
Het |
Dsc1 |
A |
T |
18: 20,219,886 (GRCm39) |
C761* |
probably null |
Het |
Dsg1b |
A |
T |
18: 20,541,782 (GRCm39) |
D763V |
probably damaging |
Het |
Eif2ak1 |
C |
T |
5: 143,820,812 (GRCm39) |
P251L |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,503,105 (GRCm39) |
I934K |
probably damaging |
Het |
Fbxo40 |
T |
C |
16: 36,790,744 (GRCm39) |
E122G |
probably damaging |
Het |
Filip1 |
C |
T |
9: 79,725,983 (GRCm39) |
G879R |
possibly damaging |
Het |
Frem2 |
A |
T |
3: 53,559,984 (GRCm39) |
F1508I |
probably damaging |
Het |
Gja1 |
A |
G |
10: 56,264,594 (GRCm39) |
N318D |
probably benign |
Het |
Gm11564 |
T |
C |
11: 99,705,867 (GRCm39) |
S188G |
unknown |
Het |
Hlcs |
A |
G |
16: 94,063,491 (GRCm39) |
V523A |
probably benign |
Het |
Kif1a |
C |
A |
1: 92,970,420 (GRCm39) |
E1041D |
probably damaging |
Het |
Lamtor1 |
A |
G |
7: 101,559,289 (GRCm39) |
Y81C |
possibly damaging |
Het |
Loxl1 |
A |
G |
9: 58,201,732 (GRCm39) |
L453S |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,043,937 (GRCm39) |
M1V |
probably null |
Het |
Megf6 |
A |
G |
4: 154,352,119 (GRCm39) |
Q1208R |
probably benign |
Het |
Morc2a |
T |
A |
11: 3,633,781 (GRCm39) |
I631N |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,226,360 (GRCm39) |
|
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,406,428 (GRCm39) |
S139G |
possibly damaging |
Het |
Myo18a |
T |
C |
11: 77,720,127 (GRCm39) |
F1017L |
probably benign |
Het |
Nup62 |
A |
C |
7: 44,479,416 (GRCm39) |
Q477P |
possibly damaging |
Het |
P2ry13 |
T |
A |
3: 59,117,653 (GRCm39) |
I42F |
probably benign |
Het |
Ptprb |
G |
A |
10: 116,175,392 (GRCm39) |
R1129K |
probably benign |
Het |
Rexo4 |
T |
A |
2: 26,854,197 (GRCm39) |
K45I |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,327,121 (GRCm39) |
V1703I |
probably benign |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,149,362 (GRCm39) |
T194A |
probably benign |
Het |
Slc4a10 |
G |
A |
2: 62,080,816 (GRCm39) |
A348T |
probably damaging |
Het |
Soat2 |
G |
A |
15: 102,062,460 (GRCm39) |
|
probably null |
Het |
Srms |
T |
C |
2: 180,850,548 (GRCm39) |
S204G |
probably benign |
Het |
Szt2 |
G |
A |
4: 118,229,810 (GRCm39) |
R2774C |
unknown |
Het |
Tcf7l2 |
T |
C |
19: 55,896,973 (GRCm39) |
V182A |
probably damaging |
Het |
Tmem167b |
C |
T |
3: 108,467,559 (GRCm39) |
R29H |
probably benign |
Het |
Trappc12 |
T |
A |
12: 28,796,863 (GRCm39) |
D223V |
probably damaging |
Het |
Ttc6 |
T |
A |
12: 57,664,397 (GRCm39) |
S383R |
possibly damaging |
Het |
Ubr1 |
C |
T |
2: 120,791,573 (GRCm39) |
R137H |
possibly damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,792,597 (GRCm39) |
C641* |
probably null |
Het |
Vrk3 |
A |
G |
7: 44,409,298 (GRCm39) |
D155G |
probably damaging |
Het |
Xxylt1 |
T |
C |
16: 30,869,503 (GRCm39) |
Y199C |
probably damaging |
Het |
Zbtb46 |
A |
T |
2: 181,065,363 (GRCm39) |
D262E |
probably benign |
Het |
Zcchc9 |
A |
T |
13: 91,948,766 (GRCm39) |
S58T |
probably benign |
Het |
Zfp747l1 |
A |
T |
7: 126,984,085 (GRCm39) |
|
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,631,563 (GRCm39) |
L1344* |
probably null |
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 |
R5287:Sec23ip
|
UTSW |
7 |
128,367,860 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Posted On |
2016-12-15 |