Incidental Mutation 'IGL01370:Sec24b'
| ID |
76130 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sec24b
|
| Ensembl Gene |
ENSMUSG00000001052 |
| Gene Name |
SEC24 homolog B, COPII coat complex component |
| Synonyms |
SEC24 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.791)
|
| Stock # |
IGL01370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
129776408-129855202 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 129801253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001079]
[ENSMUST00000165873]
[ENSMUST00000168644]
|
| AlphaFold |
Q80ZX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001079
|
| SMART Domains |
Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
585 |
622 |
4.1e-17 |
PFAM |
|
Pfam:Sec23_trunk
|
658 |
897 |
2.4e-87 |
PFAM |
|
Pfam:Sec23_BS
|
902 |
986 |
3.4e-23 |
PFAM |
|
Pfam:Sec23_helical
|
999 |
1099 |
8.7e-31 |
PFAM |
|
Pfam:Gelsolin
|
1122 |
1197 |
4.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165873
|
| SMART Domains |
Protein: ENSMUSP00000132861
Gene: ENSMUSG00000001052
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
305 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
321 |
359 |
2.5e-18 |
PFAM |
|
Pfam:Sec23_trunk
|
395 |
634 |
1.6e-87 |
PFAM |
|
Pfam:Sec23_BS
|
639 |
723 |
2.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168644
|
| SMART Domains |
Protein: ENSMUSP00000126923
Gene: ENSMUSG00000001052
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
376 |
N/A |
INTRINSIC |
|
PDB:3EH1|A
|
377 |
411 |
1e-11 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168908
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit craniorachischisis, abnormal embryo shape, omphalocele, disoriented hair cells, and failure of eyelid fusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,423,503 (GRCm39) |
|
probably benign |
Het |
| Add1 |
C |
T |
5: 34,787,859 (GRCm39) |
T210I |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,969 (GRCm39) |
E314G |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,483,662 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ankrd36 |
C |
T |
11: 5,534,019 (GRCm39) |
T290I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,001,904 (GRCm39) |
I1283N |
probably benign |
Het |
| Castor2 |
T |
C |
5: 134,167,111 (GRCm39) |
V323A |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,731,250 (GRCm39) |
F709S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,801,426 (GRCm39) |
E197G |
probably damaging |
Het |
| Ftsj3 |
G |
T |
11: 106,143,145 (GRCm39) |
R390S |
possibly damaging |
Het |
| Gabrb3 |
G |
A |
7: 57,466,226 (GRCm39) |
A347T |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,288,383 (GRCm39) |
|
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,438 (GRCm39) |
N489K |
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,658 (GRCm39) |
T51A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,193 (GRCm39) |
S772G |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,364,932 (GRCm39) |
|
probably null |
Het |
| Loxl3 |
A |
G |
6: 83,026,468 (GRCm39) |
T475A |
probably damaging |
Het |
| Lpl |
A |
T |
8: 69,340,220 (GRCm39) |
S72C |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,801,204 (GRCm39) |
I352F |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,887,585 (GRCm39) |
I334T |
possibly damaging |
Het |
| Mettl8 |
T |
G |
2: 70,812,383 (GRCm39) |
D49A |
probably damaging |
Het |
| Ms4a3 |
T |
A |
19: 11,610,245 (GRCm39) |
T106S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,886,389 (GRCm39) |
|
probably null |
Het |
| Or14j2 |
T |
C |
17: 37,885,412 (GRCm39) |
I301V |
probably null |
Het |
| Or1o11 |
C |
A |
17: 37,756,605 (GRCm39) |
H64Q |
probably benign |
Het |
| Or1p1c |
G |
A |
11: 74,160,325 (GRCm39) |
V37I |
probably benign |
Het |
| Or4n4 |
G |
T |
14: 50,519,689 (GRCm39) |
T7K |
probably damaging |
Het |
| Or5b107 |
A |
T |
19: 13,142,663 (GRCm39) |
Y95F |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,222 (GRCm39) |
K1333E |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,610,891 (GRCm39) |
F364L |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,155,531 (GRCm39) |
I2438F |
probably damaging |
Het |
| Plcb3 |
A |
C |
19: 6,940,192 (GRCm39) |
V465G |
probably damaging |
Het |
| Plekho2 |
G |
T |
9: 65,465,912 (GRCm39) |
H159N |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,872,681 (GRCm39) |
|
probably benign |
Het |
| Rab6b |
G |
T |
9: 103,041,094 (GRCm39) |
V163L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,816,607 (GRCm39) |
M597V |
probably benign |
Het |
| Rbm15 |
A |
G |
3: 107,238,326 (GRCm39) |
S691P |
probably damaging |
Het |
| Slc6a18 |
A |
G |
13: 73,815,150 (GRCm39) |
I386T |
probably damaging |
Het |
| Stxbp3 |
A |
C |
3: 108,704,741 (GRCm39) |
Y497* |
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,615 (GRCm39) |
K353R |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,253 (GRCm39) |
H629Q |
probably damaging |
Het |
| Tbc1d5 |
T |
A |
17: 51,273,755 (GRCm39) |
I119F |
probably benign |
Het |
| Tcp11l1 |
G |
T |
2: 104,536,831 (GRCm39) |
D11E |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,009 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,884,018 (GRCm39) |
N325S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,327 (GRCm39) |
K91E |
possibly damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,715 (GRCm39) |
F763L |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,394,694 (GRCm39) |
E308G |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
probably benign |
Het |
|
| Other mutations in Sec24b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Sec24b
|
APN |
3 |
129,814,295 (GRCm39) |
intron |
probably benign |
|
|
IGL01137:Sec24b
|
APN |
3 |
129,801,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01931:Sec24b
|
APN |
3 |
129,803,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4696001:Sec24b
|
UTSW |
3 |
129,788,040 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0193:Sec24b
|
UTSW |
3 |
129,782,633 (GRCm39) |
missense |
probably null |
|
|
R0194:Sec24b
|
UTSW |
3 |
129,777,814 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0403:Sec24b
|
UTSW |
3 |
129,793,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Sec24b
|
UTSW |
3 |
129,783,325 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0576:Sec24b
|
UTSW |
3 |
129,834,985 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0583:Sec24b
|
UTSW |
3 |
129,834,960 (GRCm39) |
nonsense |
probably null |
|
|
R0963:Sec24b
|
UTSW |
3 |
129,834,554 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0967:Sec24b
|
UTSW |
3 |
129,790,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Sec24b
|
UTSW |
3 |
129,801,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Sec24b
|
UTSW |
3 |
129,801,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1594:Sec24b
|
UTSW |
3 |
129,785,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1716:Sec24b
|
UTSW |
3 |
129,834,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1938:Sec24b
|
UTSW |
3 |
129,785,010 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2020:Sec24b
|
UTSW |
3 |
129,781,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2407:Sec24b
|
UTSW |
3 |
129,795,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2415:Sec24b
|
UTSW |
3 |
129,789,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3121:Sec24b
|
UTSW |
3 |
129,795,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3729:Sec24b
|
UTSW |
3 |
129,827,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3731:Sec24b
|
UTSW |
3 |
129,827,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3789:Sec24b
|
UTSW |
3 |
129,814,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4229:Sec24b
|
UTSW |
3 |
129,834,368 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4230:Sec24b
|
UTSW |
3 |
129,834,368 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4617:Sec24b
|
UTSW |
3 |
129,834,413 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4856:Sec24b
|
UTSW |
3 |
129,777,619 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4886:Sec24b
|
UTSW |
3 |
129,777,619 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4913:Sec24b
|
UTSW |
3 |
129,796,028 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5510:Sec24b
|
UTSW |
3 |
129,834,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Sec24b
|
UTSW |
3 |
129,834,483 (GRCm39) |
small insertion |
probably benign |
|
|
R6167:Sec24b
|
UTSW |
3 |
129,782,550 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6314:Sec24b
|
UTSW |
3 |
129,800,894 (GRCm39) |
splice site |
probably null |
|
|
R6442:Sec24b
|
UTSW |
3 |
129,790,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Sec24b
|
UTSW |
3 |
129,834,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Sec24b
|
UTSW |
3 |
129,834,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7081:Sec24b
|
UTSW |
3 |
129,781,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7179:Sec24b
|
UTSW |
3 |
129,782,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Sec24b
|
UTSW |
3 |
129,827,509 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7332:Sec24b
|
UTSW |
3 |
129,835,042 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7414:Sec24b
|
UTSW |
3 |
129,803,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7599:Sec24b
|
UTSW |
3 |
129,834,460 (GRCm39) |
small insertion |
probably benign |
|
|
R7774:Sec24b
|
UTSW |
3 |
129,777,846 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7895:Sec24b
|
UTSW |
3 |
129,789,598 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8146:Sec24b
|
UTSW |
3 |
129,789,573 (GRCm39) |
nonsense |
probably null |
|
|
R8217:Sec24b
|
UTSW |
3 |
129,834,599 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8344:Sec24b
|
UTSW |
3 |
129,798,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8525:Sec24b
|
UTSW |
3 |
129,805,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Sec24b
|
UTSW |
3 |
129,798,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Sec24b
|
UTSW |
3 |
129,783,342 (GRCm39) |
missense |
probably benign |
|
|
R8929:Sec24b
|
UTSW |
3 |
129,803,507 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8967:Sec24b
|
UTSW |
3 |
129,785,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Sec24b
|
UTSW |
3 |
129,801,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9355:Sec24b
|
UTSW |
3 |
129,787,489 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9660:Sec24b
|
UTSW |
3 |
129,790,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Sec24b
|
UTSW |
3 |
129,790,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Sec24b
|
UTSW |
3 |
129,789,742 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0065:Sec24b
|
UTSW |
3 |
129,790,004 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation