Incidental Mutation 'R4287:Sec23ip'
| ID |
322065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec23ip
|
| Ensembl Gene |
ENSMUSG00000055319 |
| Gene Name |
Sec23 interacting protein |
| Synonyms |
p125, D7Ertd373e |
| MMRRC Submission |
041652-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.583)
|
| Stock # |
R4287 (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 128379057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 838
(D838G)
|
| 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: D838G
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: D838G
| 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
|
| Meta Mutation Damage Score |
0.2049 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
A |
G |
5: 122,938,664 (GRCm39) |
V362A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,722 (GRCm39) |
C2594S |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,253,043 (GRCm39) |
Q303K |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,544,853 (GRCm39) |
Y345C |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 154,796,997 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,752,539 (GRCm39) |
V408D |
possibly damaging |
Het |
| Gm7135 |
A |
G |
1: 97,328,123 (GRCm39) |
|
noncoding transcript |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,555,184 (GRCm39) |
E36* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,106,845 (GRCm39) |
E1433K |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,311,265 (GRCm39) |
C39R |
probably benign |
Het |
| Lce1i |
A |
G |
3: 92,684,742 (GRCm39) |
S145P |
unknown |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
G |
A |
11: 101,914,289 (GRCm39) |
A102V |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,541,130 (GRCm39) |
I107V |
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,976 (GRCm39) |
M98K |
probably benign |
Het |
| Pnn |
C |
T |
12: 59,118,956 (GRCm39) |
T513I |
possibly damaging |
Het |
| Ric8a |
A |
G |
7: 140,441,335 (GRCm39) |
Y210C |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,908,992 (GRCm39) |
V1037M |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,115,907 (GRCm39) |
T1089S |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,616,440 (GRCm39) |
S231L |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Setbp1 |
T |
C |
18: 78,902,276 (GRCm39) |
I464V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,617,904 (GRCm39) |
H310L |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,828,268 (GRCm39) |
S363P |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,543,509 (GRCm39) |
R1269Q |
probably benign |
Het |
| Tmed3 |
A |
G |
9: 89,586,951 (GRCm39) |
S10P |
probably benign |
Het |
| Tomm70a |
T |
G |
16: 56,960,985 (GRCm39) |
Y313D |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,207,039 (GRCm39) |
E810G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,209,824 (GRCm39) |
Y432F |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,337 (GRCm39) |
|
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,211,110 (GRCm39) |
Y233C |
probably damaging |
Het |
| Zfp986 |
T |
C |
4: 145,619,088 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTGCTTGCAAAGTAATTTCACC -3'
(R):5'- GTTCATGATTCACTATAGATTGCCG -3'
Sequencing Primer
(F):5'- TCACAAATCTTATAATAGCCAGTAGC -3'
(R):5'- CACTATAGATTGCCGGATAGTTTTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation