Incidental Mutation 'R2135:Sec31b'
| ID |
235768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| MMRRC Submission |
040138-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R2135 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44523135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 211
(S211G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063632]
[ENSMUST00000111985]
|
| AlphaFold |
Q3TZ89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063632
AA Change: S211G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: S211G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
56 |
101 |
5e-18 |
BLAST |
|
WD40
|
110 |
150 |
4.76e-6 |
SMART |
|
WD40
|
159 |
197 |
1.53e1 |
SMART |
|
WD40
|
200 |
245 |
1.85e0 |
SMART |
|
WD40
|
249 |
289 |
2.15e-4 |
SMART |
|
WD40
|
292 |
332 |
6.19e-1 |
SMART |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1009 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111985
AA Change: S54G
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: S54G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
40 |
1.53e1 |
SMART |
|
WD40
|
43 |
88 |
1.85e0 |
SMART |
|
WD40
|
92 |
132 |
2.15e-4 |
SMART |
|
WD40
|
135 |
175 |
6.19e-1 |
SMART |
|
Pfam:Sec16_C
|
394 |
612 |
1.3e-7 |
PFAM |
|
low complexity region
|
665 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
861 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2834 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,509 (GRCm39) |
H116Q |
probably benign |
Het |
| Adamts16 |
C |
A |
13: 70,949,126 (GRCm39) |
L178F |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,672,676 (GRCm39) |
|
probably null |
Het |
| Akap9 |
A |
G |
5: 4,114,509 (GRCm39) |
T46A |
probably damaging |
Het |
| Ankrd2 |
T |
C |
19: 42,032,498 (GRCm39) |
L253P |
probably damaging |
Het |
| Arap3 |
T |
C |
18: 38,107,509 (GRCm39) |
D1336G |
probably damaging |
Het |
| Cacna2d2 |
C |
A |
9: 107,403,712 (GRCm39) |
L992I |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,868,760 (GRCm39) |
I574N |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,697,923 (GRCm39) |
T74M |
probably damaging |
Het |
| Ces5a |
C |
A |
8: 94,226,369 (GRCm39) |
E481D |
probably benign |
Het |
| Cfap74 |
C |
G |
4: 155,514,397 (GRCm39) |
N544K |
probably damaging |
Het |
| Cfap74 |
T |
A |
4: 155,514,408 (GRCm39) |
L548Q |
probably damaging |
Het |
| Cfb |
C |
T |
17: 35,076,254 (GRCm39) |
V1145I |
possibly damaging |
Het |
| CK137956 |
A |
G |
4: 127,845,433 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
T |
A |
18: 47,123,604 (GRCm39) |
L153Q |
possibly damaging |
Het |
| Cox6c |
T |
C |
15: 35,937,429 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,623,465 (GRCm39) |
D119G |
possibly damaging |
Het |
| Ext1 |
G |
T |
15: 52,965,140 (GRCm39) |
Q409K |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,034,882 (GRCm39) |
I2845F |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,941,771 (GRCm39) |
N494S |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,431,583 (GRCm39) |
T305A |
probably benign |
Het |
| Gbx1 |
G |
T |
5: 24,731,220 (GRCm39) |
R199S |
possibly damaging |
Het |
| Gm11437 |
T |
C |
11: 84,044,638 (GRCm39) |
R192G |
probably damaging |
Het |
| Gucy2c |
T |
A |
6: 136,700,726 (GRCm39) |
D572V |
probably damaging |
Het |
| Idh1 |
A |
C |
1: 65,201,078 (GRCm39) |
M291R |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,356,551 (GRCm39) |
Y330C |
probably damaging |
Het |
| Kdm4a |
A |
G |
4: 117,999,656 (GRCm39) |
L922P |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,566,215 (GRCm39) |
D346G |
possibly damaging |
Het |
| Lsm14a |
A |
G |
7: 34,070,609 (GRCm39) |
S96P |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
| Marchf6 |
A |
T |
15: 31,509,910 (GRCm39) |
C26* |
probably null |
Het |
| Msra |
G |
A |
14: 64,360,657 (GRCm39) |
P228L |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,383,378 (GRCm39) |
D395E |
probably benign |
Het |
| Ncr1 |
C |
A |
7: 4,343,756 (GRCm39) |
|
probably benign |
Het |
| Nkd1 |
T |
C |
8: 89,318,278 (GRCm39) |
I201T |
probably benign |
Het |
| Nsrp1 |
A |
T |
11: 76,945,834 (GRCm39) |
|
probably benign |
Het |
| Or2t48 |
A |
C |
11: 58,420,611 (GRCm39) |
I67S |
probably damaging |
Het |
| Or7e177 |
T |
A |
9: 20,211,593 (GRCm39) |
D32E |
probably benign |
Het |
| Pate5 |
A |
C |
9: 35,750,479 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
T |
C |
15: 85,700,707 (GRCm39) |
Y1743C |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,526,225 (GRCm39) |
H281Q |
possibly damaging |
Het |
| Ppp2r3d |
A |
C |
9: 101,088,757 (GRCm39) |
M522R |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,530,325 (GRCm39) |
F72S |
possibly damaging |
Het |
| Prima1 |
A |
T |
12: 103,168,949 (GRCm39) |
F106L |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,627,965 (GRCm39) |
H142R |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,120,374 (GRCm39) |
A793V |
probably benign |
Het |
| Rbsn |
T |
A |
6: 92,166,854 (GRCm39) |
M597L |
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,544,933 (GRCm39) |
D571E |
probably damaging |
Het |
| Rp9 |
T |
C |
9: 22,379,425 (GRCm39) |
K25E |
possibly damaging |
Het |
| Shank2 |
C |
T |
7: 143,964,971 (GRCm39) |
P1070S |
probably damaging |
Het |
| Sla |
A |
G |
15: 66,654,563 (GRCm39) |
V241A |
probably benign |
Het |
| Slc25a40 |
A |
G |
5: 8,477,489 (GRCm39) |
T25A |
possibly damaging |
Het |
| Slc3a2 |
A |
G |
19: 8,685,608 (GRCm39) |
S164P |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,610,444 (GRCm39) |
W457R |
probably null |
Het |
| Slco6c1 |
A |
G |
1: 97,032,542 (GRCm39) |
M303T |
probably benign |
Het |
| Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
| Tecta |
A |
C |
9: 42,251,581 (GRCm39) |
C1781G |
probably damaging |
Het |
| Timmdc1 |
A |
T |
16: 38,319,313 (GRCm39) |
H280Q |
probably benign |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmem30b |
A |
G |
12: 73,592,107 (GRCm39) |
L336P |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,685,575 (GRCm39) |
I943V |
probably benign |
Het |
| Tshb |
A |
G |
3: 102,685,464 (GRCm39) |
|
probably null |
Het |
| Vcpip1 |
A |
G |
1: 9,818,035 (GRCm39) |
V116A |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,880,219 (GRCm39) |
Y156H |
probably benign |
Het |
| Zcrb1 |
T |
C |
15: 93,295,067 (GRCm39) |
N23S |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,292,826 (GRCm39) |
R2108G |
possibly damaging |
Het |
|
| Other mutations in Sec31b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Sec31b
|
APN |
19 |
44,515,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Sec31b
|
APN |
19 |
44,512,122 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02404:Sec31b
|
APN |
19 |
44,523,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02663:Sec31b
|
APN |
19 |
44,522,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02728:Sec31b
|
APN |
19 |
44,511,554 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02830:Sec31b
|
APN |
19 |
44,520,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03141:Sec31b
|
APN |
19 |
44,514,759 (GRCm39) |
splice site |
probably benign |
|
|
IGL03247:Sec31b
|
APN |
19 |
44,507,379 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0049:Sec31b
|
UTSW |
19 |
44,508,847 (GRCm39) |
splice site |
probably benign |
|
|
R0137:Sec31b
|
UTSW |
19 |
44,522,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Sec31b
|
UTSW |
19 |
44,513,908 (GRCm39) |
unclassified |
probably benign |
|
|
R0239:Sec31b
|
UTSW |
19 |
44,513,908 (GRCm39) |
unclassified |
probably benign |
|
|
R0468:Sec31b
|
UTSW |
19 |
44,506,947 (GRCm39) |
splice site |
probably benign |
|
|
R0504:Sec31b
|
UTSW |
19 |
44,523,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Sec31b
|
UTSW |
19 |
44,512,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Sec31b
|
UTSW |
19 |
44,514,046 (GRCm39) |
missense |
probably benign |
|
|
R0749:Sec31b
|
UTSW |
19 |
44,512,945 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0815:Sec31b
|
UTSW |
19 |
44,506,612 (GRCm39) |
nonsense |
probably null |
|
|
R1162:Sec31b
|
UTSW |
19 |
44,506,087 (GRCm39) |
nonsense |
probably null |
|
|
R1398:Sec31b
|
UTSW |
19 |
44,512,104 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1436:Sec31b
|
UTSW |
19 |
44,524,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1538:Sec31b
|
UTSW |
19 |
44,507,025 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1599:Sec31b
|
UTSW |
19 |
44,511,592 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2044:Sec31b
|
UTSW |
19 |
44,524,595 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2167:Sec31b
|
UTSW |
19 |
44,531,792 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2211:Sec31b
|
UTSW |
19 |
44,511,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Sec31b
|
UTSW |
19 |
44,524,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3113:Sec31b
|
UTSW |
19 |
44,506,624 (GRCm39) |
nonsense |
probably null |
|
|
R4110:Sec31b
|
UTSW |
19 |
44,512,968 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4111:Sec31b
|
UTSW |
19 |
44,512,968 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4113:Sec31b
|
UTSW |
19 |
44,512,968 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4158:Sec31b
|
UTSW |
19 |
44,513,625 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4226:Sec31b
|
UTSW |
19 |
44,520,149 (GRCm39) |
missense |
probably benign |
|
|
R4646:Sec31b
|
UTSW |
19 |
44,515,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4732:Sec31b
|
UTSW |
19 |
44,521,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Sec31b
|
UTSW |
19 |
44,521,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Sec31b
|
UTSW |
19 |
44,520,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4877:Sec31b
|
UTSW |
19 |
44,524,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5150:Sec31b
|
UTSW |
19 |
44,508,970 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5377:Sec31b
|
UTSW |
19 |
44,507,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Sec31b
|
UTSW |
19 |
44,522,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Sec31b
|
UTSW |
19 |
44,511,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6002:Sec31b
|
UTSW |
19 |
44,524,203 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6185:Sec31b
|
UTSW |
19 |
44,531,723 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6675:Sec31b
|
UTSW |
19 |
44,512,214 (GRCm39) |
missense |
probably benign |
|
|
R6946:Sec31b
|
UTSW |
19 |
44,522,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Sec31b
|
UTSW |
19 |
44,507,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7237:Sec31b
|
UTSW |
19 |
44,506,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Sec31b
|
UTSW |
19 |
44,511,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7340:Sec31b
|
UTSW |
19 |
44,517,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7505:Sec31b
|
UTSW |
19 |
44,532,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Sec31b
|
UTSW |
19 |
44,519,995 (GRCm39) |
splice site |
probably null |
|
|
R7584:Sec31b
|
UTSW |
19 |
44,531,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7763:Sec31b
|
UTSW |
19 |
44,512,274 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7777:Sec31b
|
UTSW |
19 |
44,512,212 (GRCm39) |
nonsense |
probably null |
|
|
R7900:Sec31b
|
UTSW |
19 |
44,514,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7952:Sec31b
|
UTSW |
19 |
44,508,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8057:Sec31b
|
UTSW |
19 |
44,507,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Sec31b
|
UTSW |
19 |
44,512,955 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8739:Sec31b
|
UTSW |
19 |
44,507,620 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8822:Sec31b
|
UTSW |
19 |
44,507,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8837:Sec31b
|
UTSW |
19 |
44,506,106 (GRCm39) |
nonsense |
probably null |
|
|
R8916:Sec31b
|
UTSW |
19 |
44,520,783 (GRCm39) |
missense |
|
|
|
R9069:Sec31b
|
UTSW |
19 |
44,507,741 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9259:Sec31b
|
UTSW |
19 |
44,505,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9493:Sec31b
|
UTSW |
19 |
44,509,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF023:Sec31b
|
UTSW |
19 |
44,524,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sec31b
|
UTSW |
19 |
44,505,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTCTCCTCGGCAGTAAG -3'
(R):5'- GCTTAACTCAGGTGATGGCAGG -3'
Sequencing Primer
(F):5'- TCTCCTCGGCAGTAAGTGGAG -3'
(R):5'- ATGGCAGGTTGTTTCTTTCACC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation