Incidental Mutation 'R4448:Sec23b'
| ID |
328823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec23b
|
| Ensembl Gene |
ENSMUSG00000027429 |
| Gene Name |
SEC23 homolog B, COPII coat complex component |
| Synonyms |
|
| MMRRC Submission |
041709-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4448 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
144398165-144432673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144401171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 11
(N11D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028916]
[ENSMUST00000143573]
[ENSMUST00000149697]
[ENSMUST00000155258]
[ENSMUST00000155876]
|
| AlphaFold |
Q9D662 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028916
AA Change: N11D
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028916
Gene: ENSMUSG00000027429
AA Change: N11D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-Sec23_Sec24
|
58 |
98 |
4.3e-17 |
PFAM |
|
Pfam:Sec23_trunk
|
126 |
392 |
2.3e-82 |
PFAM |
|
Pfam:Sec23_BS
|
403 |
506 |
7.2e-33 |
PFAM |
|
Pfam:Sec23_helical
|
522 |
620 |
1.1e-28 |
PFAM |
|
Pfam:Gelsolin
|
631 |
720 |
1e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143573
AA Change: N11D
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120972
Gene: ENSMUSG00000027429
AA Change: N11D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-Sec23_Sec24
|
57 |
98 |
3.7e-18 |
PFAM |
|
Pfam:Sec23_trunk
|
126 |
278 |
1.3e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149697
AA Change: N11D
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000122819
Gene: ENSMUSG00000027429
AA Change: N11D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-Sec23_Sec24
|
57 |
98 |
8.7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155258
AA Change: N11D
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123690
Gene: ENSMUSG00000027429
AA Change: N11D
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2NUT|A
|
1 |
59 |
2e-32 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155876
AA Change: N11D
PolyPhen 2
Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122884
Gene: ENSMUSG00000027429
AA Change: N11D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-Sec23_Sec24
|
57 |
98 |
1.1e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.0839 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
94% (49/52) |
| 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 SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| A1cf |
A |
T |
19: 31,923,262 (GRCm39) |
T513S |
probably benign |
Het |
| Acaca |
A |
T |
11: 84,153,318 (GRCm39) |
I909F |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,266,569 (GRCm39) |
I980V |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Asb8 |
A |
G |
15: 98,039,211 (GRCm39) |
V63A |
possibly damaging |
Het |
| Atp6v1b2 |
T |
A |
8: 69,554,674 (GRCm39) |
D126E |
probably benign |
Het |
| BC048562 |
T |
A |
9: 108,315,723 (GRCm39) |
L43Q |
probably damaging |
Het |
| Ctcf |
A |
T |
8: 106,406,925 (GRCm39) |
|
probably benign |
Het |
| Efs |
A |
G |
14: 55,157,649 (GRCm39) |
S128P |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,005,676 (GRCm39) |
M722K |
probably damaging |
Het |
| Ezr |
T |
C |
17: 7,020,473 (GRCm39) |
I203V |
probably benign |
Het |
| F5 |
A |
T |
1: 164,026,468 (GRCm39) |
N1680I |
possibly damaging |
Het |
| Fcna |
A |
G |
2: 25,515,488 (GRCm39) |
F194L |
probably damaging |
Het |
| Fut7 |
A |
G |
2: 25,314,951 (GRCm39) |
T70A |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gpr4 |
G |
A |
7: 18,956,926 (GRCm39) |
A283T |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,770,574 (GRCm39) |
|
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,846,911 (GRCm39) |
K268E |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,318 (GRCm39) |
S605P |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,646,733 (GRCm39) |
F198L |
probably benign |
Het |
| Kmt2e |
T |
C |
5: 23,669,788 (GRCm39) |
F92L |
possibly damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,425,938 (GRCm39) |
I2396V |
possibly damaging |
Het |
| Nckap5 |
G |
A |
1: 125,953,463 (GRCm39) |
Q1030* |
probably null |
Het |
| Pag1 |
T |
C |
3: 9,764,526 (GRCm39) |
E209G |
probably benign |
Het |
| Pramel30 |
A |
C |
4: 144,059,255 (GRCm39) |
H322P |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,315,517 (GRCm39) |
|
probably benign |
Het |
| Rab38 |
T |
G |
7: 88,139,833 (GRCm39) |
D167E |
probably benign |
Het |
| Rbm26 |
A |
T |
14: 105,388,986 (GRCm39) |
F302I |
probably damaging |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,388,524 (GRCm39) |
G250D |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,219,094 (GRCm39) |
V81D |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Sqstm1 |
A |
G |
11: 50,093,866 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
A |
G |
2: 179,577,764 (GRCm39) |
L519P |
possibly damaging |
Het |
| Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,566,282 (GRCm39) |
V1502I |
possibly damaging |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,463 (GRCm39) |
V250G |
probably benign |
Het |
| Vmn1r222 |
G |
A |
13: 23,416,830 (GRCm39) |
L128F |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
Het |
|
| Other mutations in Sec23b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Sec23b
|
APN |
2 |
144,425,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00668:Sec23b
|
APN |
2 |
144,401,138 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL00714:Sec23b
|
APN |
2 |
144,401,145 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL00914:Sec23b
|
APN |
2 |
144,408,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01084:Sec23b
|
APN |
2 |
144,406,509 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01341:Sec23b
|
APN |
2 |
144,427,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01377:Sec23b
|
APN |
2 |
144,401,157 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01634:Sec23b
|
APN |
2 |
144,401,150 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02321:Sec23b
|
APN |
2 |
144,421,325 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03027:Sec23b
|
APN |
2 |
144,429,465 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03064:Sec23b
|
APN |
2 |
144,423,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03105:Sec23b
|
APN |
2 |
144,423,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Sec23b
|
APN |
2 |
144,408,679 (GRCm39) |
splice site |
probably benign |
|
|
R0004:Sec23b
|
UTSW |
2 |
144,406,482 (GRCm39) |
splice site |
probably benign |
|
|
R0092:Sec23b
|
UTSW |
2 |
144,408,830 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0409:Sec23b
|
UTSW |
2 |
144,409,832 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0426:Sec23b
|
UTSW |
2 |
144,410,532 (GRCm39) |
unclassified |
probably benign |
|
|
R0441:Sec23b
|
UTSW |
2 |
144,423,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1034:Sec23b
|
UTSW |
2 |
144,432,258 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1624:Sec23b
|
UTSW |
2 |
144,409,049 (GRCm39) |
missense |
probably benign |
|
|
R2020:Sec23b
|
UTSW |
2 |
144,408,864 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2392:Sec23b
|
UTSW |
2 |
144,427,507 (GRCm39) |
splice site |
probably null |
|
|
R3946:Sec23b
|
UTSW |
2 |
144,423,893 (GRCm39) |
missense |
probably benign |
|
|
R4407:Sec23b
|
UTSW |
2 |
144,416,638 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4519:Sec23b
|
UTSW |
2 |
144,423,935 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4522:Sec23b
|
UTSW |
2 |
144,420,286 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4654:Sec23b
|
UTSW |
2 |
144,414,494 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4849:Sec23b
|
UTSW |
2 |
144,427,519 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4876:Sec23b
|
UTSW |
2 |
144,428,281 (GRCm39) |
splice site |
probably null |
|
|
R4983:Sec23b
|
UTSW |
2 |
144,423,873 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6169:Sec23b
|
UTSW |
2 |
144,428,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Sec23b
|
UTSW |
2 |
144,401,109 (GRCm39) |
splice site |
probably null |
|
|
R6703:Sec23b
|
UTSW |
2 |
144,401,109 (GRCm39) |
splice site |
probably null |
|
|
R6748:Sec23b
|
UTSW |
2 |
144,408,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Sec23b
|
UTSW |
2 |
144,432,258 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7511:Sec23b
|
UTSW |
2 |
144,432,269 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7845:Sec23b
|
UTSW |
2 |
144,401,316 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7914:Sec23b
|
UTSW |
2 |
144,406,565 (GRCm39) |
missense |
probably benign |
|
|
R8177:Sec23b
|
UTSW |
2 |
144,427,543 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8183:Sec23b
|
UTSW |
2 |
144,401,189 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8238:Sec23b
|
UTSW |
2 |
144,406,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8420:Sec23b
|
UTSW |
2 |
144,401,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8488:Sec23b
|
UTSW |
2 |
144,423,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8558:Sec23b
|
UTSW |
2 |
144,428,308 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8911:Sec23b
|
UTSW |
2 |
144,401,316 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8939:Sec23b
|
UTSW |
2 |
144,411,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9058:Sec23b
|
UTSW |
2 |
144,424,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Sec23b
|
UTSW |
2 |
144,401,179 (GRCm39) |
missense |
probably benign |
|
|
R9334:Sec23b
|
UTSW |
2 |
144,410,550 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9401:Sec23b
|
UTSW |
2 |
144,420,286 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9561:Sec23b
|
UTSW |
2 |
144,408,728 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9593:Sec23b
|
UTSW |
2 |
144,410,564 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9696:Sec23b
|
UTSW |
2 |
144,428,343 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTATCCTGTAGTGATGGGC -3'
(R):5'- TTTGCAGGTAGGCCTACTGC -3'
Sequencing Primer
(F):5'- GCTATGTTATAAGACCATCTCCTTG -3'
(R):5'- TGCAAAGCACAGGTTCATACTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation