Incidental Mutation 'IGL01656:Sec23ip'
| ID |
103008 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01656
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
128346667-128386560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128351969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 12
(P12L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042942]
[ENSMUST00000206986]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042942
AA Change: P115L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: P115L
| 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 |
probably benign
Transcript: ENSMUST00000205856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206944
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206986
AA Change: P12L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
A |
C |
6: 125,030,675 (GRCm39) |
E232A |
possibly damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,173 (GRCm39) |
F30I |
possibly damaging |
Het |
| Ap5z1 |
A |
G |
5: 142,456,069 (GRCm39) |
D318G |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,740,339 (GRCm39) |
E1278G |
possibly damaging |
Het |
| Cylc1 |
A |
G |
X: 110,167,485 (GRCm39) |
T589A |
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,824,617 (GRCm39) |
I527V |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,217,739 (GRCm39) |
V713I |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,613,009 (GRCm39) |
V283A |
possibly damaging |
Het |
| Elf5 |
A |
G |
2: 103,273,206 (GRCm39) |
|
probably benign |
Het |
| Flnb |
C |
T |
14: 7,902,010 (GRCm38) |
|
probably benign |
Het |
| Flnc |
C |
T |
6: 29,443,507 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,891,201 (GRCm39) |
L113P |
probably damaging |
Het |
| Gemin4 |
C |
T |
11: 76,104,636 (GRCm39) |
V42M |
probably damaging |
Het |
| Gm10076 |
A |
G |
14: 105,919,354 (GRCm39) |
|
noncoding transcript |
Het |
| Grina |
A |
G |
15: 76,132,501 (GRCm39) |
Y116C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,460,763 (GRCm39) |
L914H |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,439,934 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,478,962 (GRCm39) |
Q368* |
probably null |
Het |
| Kbtbd8 |
A |
G |
6: 95,095,657 (GRCm39) |
H73R |
probably benign |
Het |
| Krt90 |
T |
A |
15: 101,463,878 (GRCm39) |
Q392L |
probably damaging |
Het |
| Magea3 |
A |
T |
X: 153,732,137 (GRCm39) |
M122K |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,137,003 (GRCm39) |
D237G |
probably damaging |
Het |
| Nln |
T |
C |
13: 104,198,249 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,098,074 (GRCm39) |
Y853C |
noncoding transcript |
Het |
| Nol11 |
T |
C |
11: 107,079,998 (GRCm39) |
D29G |
probably benign |
Het |
| Nr3c2 |
C |
T |
8: 77,914,166 (GRCm39) |
L791F |
probably damaging |
Het |
| Nup50l |
A |
G |
6: 96,142,675 (GRCm39) |
V123A |
possibly damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,282 (GRCm39) |
Y385H |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,162,029 (GRCm39) |
P182L |
possibly damaging |
Het |
| Or51a8 |
A |
G |
7: 102,550,472 (GRCm39) |
I299M |
possibly damaging |
Het |
| Or5b119 |
G |
A |
19: 13,457,454 (GRCm39) |
A36V |
probably benign |
Het |
| Pklr |
G |
T |
3: 89,052,302 (GRCm39) |
G505C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,472,469 (GRCm39) |
E1071G |
possibly damaging |
Het |
| Prkcq |
G |
T |
2: 11,231,766 (GRCm39) |
A30S |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,641,712 (GRCm39) |
F104L |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,788,770 (GRCm39) |
T34I |
probably benign |
Het |
| Slc25a21 |
A |
C |
12: 56,785,280 (GRCm39) |
V199G |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,998,977 (GRCm39) |
E483G |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,993,832 (GRCm39) |
M120T |
possibly damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,396 (GRCm39) |
|
probably benign |
Het |
| Tbrg4 |
T |
A |
11: 6,568,522 (GRCm39) |
Q419L |
possibly damaging |
Het |
| Tc2n |
A |
G |
12: 101,615,348 (GRCm39) |
|
probably benign |
Het |
| Tgfbr2 |
A |
C |
9: 115,938,737 (GRCm39) |
S388R |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,989,274 (GRCm39) |
E71G |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,482,449 (GRCm39) |
I176K |
probably damaging |
Het |
| Xylt1 |
G |
T |
7: 117,148,228 (GRCm39) |
R264L |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation