Incidental Mutation 'R6034:Sec23ip'
| ID |
486444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec23ip
|
| Ensembl Gene |
ENSMUSG00000055319 |
| Gene Name |
Sec23 interacting protein |
| Synonyms |
p125, D7Ertd373e |
| MMRRC Submission |
044206-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.496)
|
| Stock # |
R6034 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
128346667-128386560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128351927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 101
(T101I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042942]
[ENSMUST00000206986]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042942
AA Change: T101I
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: T101I
| 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 benign
Transcript: ENSMUST00000206986
|
| Meta Mutation Damage Score |
0.1278 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (55/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
G |
T |
1: 34,760,984 (GRCm39) |
G80V |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Atad2 |
A |
T |
15: 57,971,959 (GRCm39) |
L306Q |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,659,645 (GRCm39) |
|
probably null |
Het |
| Atp6v1c2 |
C |
A |
12: 17,357,501 (GRCm39) |
G95V |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,922,278 (GRCm39) |
V2192E |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,542,091 (GRCm39) |
E597G |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,133,898 (GRCm39) |
M556V |
possibly damaging |
Het |
| Ccin |
G |
A |
4: 43,985,354 (GRCm39) |
R587K |
probably benign |
Het |
| Cdipt |
T |
G |
7: 126,577,497 (GRCm39) |
V81G |
probably damaging |
Het |
| Cert1 |
A |
C |
13: 96,746,308 (GRCm39) |
I236L |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,090,869 (GRCm39) |
K40E |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,196,872 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
T |
1: 46,496,418 (GRCm39) |
D101V |
probably benign |
Het |
| Fastkd3 |
T |
A |
13: 68,731,729 (GRCm39) |
W17R |
probably damaging |
Het |
| Gapdh |
T |
C |
6: 125,142,261 (GRCm39) |
D25G |
probably benign |
Het |
| H1f4 |
A |
G |
13: 23,806,296 (GRCm39) |
L62P |
probably damaging |
Het |
| H2-Ob |
T |
C |
17: 34,460,192 (GRCm39) |
V30A |
probably damaging |
Het |
| Hmgxb3 |
T |
A |
18: 61,265,594 (GRCm39) |
H1128L |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,680,711 (GRCm39) |
I255N |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,482,537 (GRCm39) |
D91G |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,944,666 (GRCm39) |
D462E |
possibly damaging |
Het |
| Kcnip4 |
G |
T |
5: 48,548,283 (GRCm39) |
R241S |
possibly damaging |
Het |
| Lilra5 |
T |
C |
7: 4,245,133 (GRCm39) |
L259P |
probably benign |
Het |
| Lipf |
T |
C |
19: 33,942,289 (GRCm39) |
I73T |
probably benign |
Het |
| Lsm7 |
T |
C |
10: 80,688,742 (GRCm39) |
|
probably null |
Het |
| Luzp2 |
T |
A |
7: 54,816,972 (GRCm39) |
L141M |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,850,137 (GRCm39) |
V1252E |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 126,399,205 (GRCm39) |
L866P |
probably damaging |
Het |
| Mink1 |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 70,497,866 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,460 (GRCm39) |
I355V |
possibly damaging |
Het |
| Mtrf1l |
T |
A |
10: 5,773,834 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,163,187 (GRCm39) |
T339S |
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,350,242 (GRCm39) |
D163G |
probably damaging |
Het |
| Oosp2 |
A |
G |
19: 11,628,879 (GRCm39) |
F74S |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4f7 |
T |
A |
2: 111,644,702 (GRCm39) |
Y123F |
probably damaging |
Het |
| Pard3 |
C |
G |
8: 127,791,077 (GRCm39) |
|
probably benign |
Het |
| Pcdha1 |
T |
A |
18: 37,063,651 (GRCm39) |
I105N |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,895,601 (GRCm39) |
T224A |
possibly damaging |
Het |
| Phf12 |
A |
G |
11: 77,908,895 (GRCm39) |
N325S |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,201,750 (GRCm39) |
|
probably null |
Het |
| Raet1e |
A |
G |
10: 22,057,990 (GRCm39) |
*252W |
probably null |
Het |
| Sap130 |
T |
C |
18: 31,822,459 (GRCm39) |
V655A |
possibly damaging |
Het |
| Sec16b |
A |
T |
1: 157,380,509 (GRCm39) |
K360I |
probably damaging |
Het |
| Selenoo |
A |
G |
15: 88,983,546 (GRCm39) |
K529R |
probably benign |
Het |
| Slc22a15 |
A |
G |
3: 101,770,235 (GRCm39) |
F451L |
possibly damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,982 (GRCm39) |
S339T |
probably benign |
Het |
| Stard13 |
A |
T |
5: 151,018,965 (GRCm39) |
|
probably null |
Het |
| Synm |
A |
G |
7: 67,384,653 (GRCm39) |
V561A |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,617,460 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
T |
A |
5: 87,229,377 (GRCm39) |
D236V |
probably damaging |
Het |
| Vmn1r65 |
A |
G |
7: 6,011,868 (GRCm39) |
L122P |
probably damaging |
Het |
| Zc3h14 |
T |
C |
12: 98,737,632 (GRCm39) |
S40P |
probably benign |
Het |
| Zc3hav1l |
C |
A |
6: 38,272,215 (GRCm39) |
G185C |
probably damaging |
Het |
| Zfp563 |
G |
A |
17: 33,323,935 (GRCm39) |
A177T |
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 |
|
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'- AAGAGGTCTAATTGCTGGGTC -3'
(R):5'- AGACTGCTTGGCTGAGAAGG -3'
Sequencing Primer
(F):5'- CTTTCTTGTAGAGCCTAAGAGGG -3'
(R):5'- GCAAATAGGTGCTGGTGCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation