Incidental Mutation 'R7975:Sec23ip'
| ID |
650848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec23ip
|
| Ensembl Gene |
ENSMUSG00000055319 |
| Gene Name |
Sec23 interacting protein |
| Synonyms |
p125, D7Ertd373e |
| MMRRC Submission |
046018-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.583)
|
| Stock # |
R7975 (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 C
at 128364201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 493
(F493S)
|
| 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: F493S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: F493S
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (53/53) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
T |
C |
10: 88,952,847 (GRCm39) |
I60V |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,216,286 (GRCm39) |
M381K |
probably null |
Het |
| Aox1 |
T |
A |
1: 58,348,187 (GRCm39) |
I635K |
probably benign |
Het |
| Bdp1 |
C |
T |
13: 100,156,884 (GRCm39) |
C2436Y |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,973,620 (GRCm39) |
R2565G |
possibly damaging |
Het |
| Brd2 |
A |
T |
17: 34,334,424 (GRCm39) |
I245N |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,325,515 (GRCm39) |
V258M |
probably damaging |
Het |
| Ccar2 |
C |
G |
14: 70,380,918 (GRCm39) |
C324S |
possibly damaging |
Het |
| Cd209b |
A |
T |
8: 3,975,948 (GRCm39) |
I71N |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,111,928 (GRCm39) |
I729F |
unknown |
Het |
| Celf1 |
T |
G |
2: 90,831,423 (GRCm39) |
V84G |
probably damaging |
Het |
| Cgn |
G |
T |
3: 94,671,836 (GRCm39) |
A965E |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,632,604 (GRCm39) |
E249G |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,841 (GRCm39) |
H629R |
|
Het |
| Cyp2j8 |
T |
C |
4: 96,358,776 (GRCm39) |
N381S |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,179,169 (GRCm39) |
D343G |
probably damaging |
Het |
| Fhl5 |
T |
A |
4: 25,214,730 (GRCm39) |
I16F |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,989,781 (GRCm39) |
F143S |
probably damaging |
Het |
| Gbp10 |
C |
T |
5: 105,368,967 (GRCm39) |
G291R |
probably benign |
Het |
| Gm28168 |
T |
C |
1: 117,875,820 (GRCm39) |
Y150H |
probably benign |
Het |
| Gm3543 |
T |
C |
14: 41,802,122 (GRCm39) |
M121V |
probably benign |
Het |
| Gramd2b |
A |
G |
18: 56,618,451 (GRCm39) |
T220A |
probably benign |
Het |
| Gstcd |
A |
G |
3: 132,777,863 (GRCm39) |
L316P |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,282,532 (GRCm39) |
G3424D |
probably benign |
Het |
| Ifi209 |
C |
T |
1: 173,468,722 (GRCm39) |
S184F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,286,948 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
G |
A |
3: 105,366,310 (GRCm39) |
R60H |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,098,911 (GRCm39) |
C1400R |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,670,796 (GRCm39) |
P794L |
probably damaging |
Het |
| Lgals4 |
A |
G |
7: 28,540,346 (GRCm39) |
I214V |
probably benign |
Het |
| Lipo4 |
A |
T |
19: 33,490,028 (GRCm39) |
L158Q |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,066,453 (GRCm39) |
Y58H |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,994,990 (GRCm39) |
S479P |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,127,920 (GRCm39) |
D132V |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,727,666 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,050,678 (GRCm39) |
H6660L |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,360,966 (GRCm39) |
V263E |
probably damaging |
Het |
| Oas1h |
G |
A |
5: 121,009,890 (GRCm39) |
V322M |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,019 (GRCm39) |
Y203* |
probably null |
Het |
| Or2m13 |
T |
A |
16: 19,226,301 (GRCm39) |
D155V |
probably damaging |
Het |
| Or4a15 |
C |
T |
2: 89,193,413 (GRCm39) |
R120H |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,212,705 (GRCm39) |
D1121V |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,537,465 (GRCm39) |
S352P |
probably damaging |
Het |
| Piezo1 |
C |
A |
8: 123,222,504 (GRCm39) |
R915L |
|
Het |
| R3hcc1 |
T |
C |
14: 69,944,593 (GRCm39) |
D7G |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,458,589 (GRCm39) |
K429E |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,501,286 (GRCm39) |
F166S |
probably benign |
Het |
| Scn9a |
T |
G |
2: 66,314,597 (GRCm39) |
N1707T |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,077,982 (GRCm39) |
I257F |
possibly damaging |
Het |
| Smarcal1 |
T |
A |
1: 72,652,150 (GRCm39) |
D637E |
probably benign |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,639,814 (GRCm39) |
F990L |
probably benign |
Het |
| Spata31h1 |
C |
T |
10: 82,119,823 (GRCm39) |
A4396T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,981,786 (GRCm39) |
T844A |
probably benign |
Het |
| Tph1 |
G |
A |
7: 46,306,678 (GRCm39) |
R145C |
probably damaging |
Het |
| Ubap2l |
G |
A |
3: 89,946,076 (GRCm39) |
|
probably null |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,272 (GRCm39) |
I810V |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,693,199 (GRCm39) |
D467G |
probably damaging |
Het |
| Zfp618 |
T |
A |
4: 63,049,352 (GRCm39) |
N417K |
possibly 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 |
|
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'- CTGAGCAGTCAGGTGTTCATTTAC -3'
(R):5'- ATTTGCTCATGTTGGAAGAAGC -3'
Sequencing Primer
(F):5'- TAATCCTAGCAATTTGGGAGGC -3'
(R):5'- ACTGCTCTTCTGAAGGTCCAGAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation