Incidental Mutation 'R9142:Sec23ip'
| ID |
694390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec23ip
|
| Ensembl Gene |
ENSMUSG00000055319 |
| Gene Name |
Sec23 interacting protein |
| Synonyms |
p125, D7Ertd373e |
| MMRRC Submission |
068934-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.583)
|
| Stock # |
R9142 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
128346667-128386560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128363226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 463
(C463S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042942]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042942
AA Change: C463S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: C463S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
C |
A |
4: 126,215,360 (GRCm39) |
G35V |
probably damaging |
Het |
| Apob |
A |
C |
12: 8,062,705 (GRCm39) |
D3729A |
possibly damaging |
Het |
| App |
G |
A |
16: 84,900,127 (GRCm39) |
H108Y |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,112,934 (GRCm39) |
A1092V |
possibly damaging |
Het |
| Arid3a |
T |
C |
10: 79,787,612 (GRCm39) |
S550P |
unknown |
Het |
| Armc2 |
T |
G |
10: 41,851,404 (GRCm39) |
E259D |
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,729,364 (GRCm39) |
D566G |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,474,111 (GRCm39) |
C12R |
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cc2d2b |
C |
T |
19: 40,753,845 (GRCm39) |
R123* |
probably null |
Het |
| Cdc37l1 |
T |
A |
19: 28,989,402 (GRCm39) |
H286Q |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,820,097 (GRCm39) |
L1239Q |
possibly damaging |
Het |
| Cfap58 |
T |
C |
19: 47,974,993 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,706,566 (GRCm39) |
D2789E |
unknown |
Het |
| Ctnna2 |
G |
T |
6: 76,879,423 (GRCm39) |
|
probably benign |
Het |
| Dazl |
A |
G |
17: 50,590,178 (GRCm39) |
V271A |
probably benign |
Het |
| Dennd4c |
A |
T |
4: 86,755,637 (GRCm39) |
N1610Y |
probably benign |
Het |
| Dusp13b |
T |
A |
14: 21,792,756 (GRCm39) |
K56N |
probably benign |
Het |
| Erbb2 |
T |
A |
11: 98,312,884 (GRCm39) |
I149N |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,388,552 (GRCm39) |
C217S |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,985,413 (GRCm39) |
C122R |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,344,298 (GRCm39) |
I182N |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,730,886 (GRCm39) |
N381S |
possibly damaging |
Het |
| Gja3 |
T |
C |
14: 57,274,048 (GRCm39) |
E108G |
probably benign |
Het |
| Gm40460 |
C |
A |
7: 141,794,499 (GRCm39) |
G106V |
unknown |
Het |
| Gm9736 |
A |
G |
10: 77,586,849 (GRCm39) |
C114R |
unknown |
Het |
| Gpbp1 |
A |
T |
13: 111,563,033 (GRCm39) |
D492E |
unknown |
Het |
| Gper1 |
T |
C |
5: 139,412,312 (GRCm39) |
V219A |
possibly damaging |
Het |
| Gtf2e1 |
C |
T |
16: 37,356,364 (GRCm39) |
R56Q |
probably benign |
Het |
| H2ac10 |
T |
C |
13: 23,718,151 (GRCm39) |
L24P |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Kat6a |
T |
A |
8: 23,430,072 (GRCm39) |
M1809K |
unknown |
Het |
| Kdm2b |
A |
T |
5: 123,127,112 (GRCm39) |
|
probably benign |
Het |
| Kif7 |
A |
T |
7: 79,356,585 (GRCm39) |
M702K |
probably benign |
Het |
| Lrrtm4 |
T |
A |
6: 79,999,426 (GRCm39) |
N279K |
probably damaging |
Het |
| Mcrip1 |
G |
A |
11: 120,435,542 (GRCm39) |
P31L |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,831,195 (GRCm39) |
I444T |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,362,315 (GRCm39) |
S1497R |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,366,688 (GRCm39) |
I1607N |
probably damaging |
Het |
| Nrde2 |
G |
T |
12: 100,117,518 (GRCm39) |
T47K |
probably benign |
Het |
| Or5w12 |
C |
T |
2: 87,502,313 (GRCm39) |
V133I |
probably benign |
Het |
| Or6b2b |
T |
G |
1: 92,419,411 (GRCm39) |
E22A |
probably benign |
Het |
| Or6c1 |
T |
C |
10: 129,518,285 (GRCm39) |
T108A |
probably benign |
Het |
| Ppargc1a |
G |
A |
5: 51,652,146 (GRCm39) |
T184I |
possibly damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,920 (GRCm39) |
D296G |
probably damaging |
Het |
| Prl7c1 |
C |
T |
13: 27,964,751 (GRCm39) |
|
probably benign |
Het |
| Prss42 |
G |
T |
9: 110,628,228 (GRCm39) |
R124L |
possibly damaging |
Het |
| Psmd1 |
T |
G |
1: 86,064,817 (GRCm39) |
Y950D |
probably damaging |
Het |
| Ptprr |
A |
T |
10: 116,024,119 (GRCm39) |
L250F |
possibly damaging |
Het |
| Rabgef1 |
T |
A |
5: 130,237,554 (GRCm39) |
M208K |
possibly damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,437,793 (GRCm39) |
Y17C |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,877,806 (GRCm39) |
D929E |
probably damaging |
Het |
| Serpina3n |
A |
G |
12: 104,379,710 (GRCm39) |
T368A |
probably damaging |
Het |
| Sez6l |
C |
T |
5: 112,609,083 (GRCm39) |
A589T |
probably benign |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
A |
11: 78,192,823 (GRCm39) |
Y52N |
possibly damaging |
Het |
| Tenm3 |
G |
A |
8: 48,788,548 (GRCm39) |
S494L |
unknown |
Het |
| Top3b |
T |
C |
16: 16,701,299 (GRCm39) |
Y204H |
probably damaging |
Het |
| Trim43b |
C |
T |
9: 88,973,452 (GRCm39) |
V94M |
possibly damaging |
Het |
| Trps1 |
T |
G |
15: 50,524,658 (GRCm39) |
I1091L |
probably damaging |
Het |
| Ttk |
G |
A |
9: 83,725,741 (GRCm39) |
R221Q |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,549,466 (GRCm39) |
M31737R |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,335,125 (GRCm39) |
L495* |
probably null |
Het |
| Usp19 |
A |
G |
9: 108,372,284 (GRCm39) |
D447G |
possibly damaging |
Het |
| Zdhhc2 |
A |
G |
8: 40,920,563 (GRCm39) |
E274G |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,350,935 (GRCm39) |
Y1595F |
probably damaging |
Het |
| Zfp932 |
A |
T |
5: 110,157,520 (GRCm39) |
H406L |
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 |
|
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 |
|
R9674:Sec23ip
|
UTSW |
7 |
128,380,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGTAATGAGAGATATTTGCTTG -3'
(R):5'- CAGGTGGCTGTTGGCTAAAATG -3'
Sequencing Primer
(F):5'- AATGAGAGATATTTGCTTGGGAGG -3'
(R):5'- CCAGGATTTTATGCAATAAGAGCAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation