Incidental Mutation 'R7270:Sec31b'
| ID |
565268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31b
|
| Ensembl Gene |
ENSMUSG00000051984 |
| Gene Name |
SEC31 homolog B, COPII coat complex component |
| Synonyms |
Sec31l2, LOC240667 |
| MMRRC Submission |
045390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R7270 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44505396-44534287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44511482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 640
(T640A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063632]
[ENSMUST00000111985]
|
| AlphaFold |
Q3TZ89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063632
AA Change: T797A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984
AA Change: T797A
| 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 |
probably benign
Transcript: ENSMUST00000111985
AA Change: T640A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107616
Gene: ENSMUSG00000051984
AA Change: T640A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165758
|
| SMART Domains |
Protein: ENSMUSP00000130598
Gene: ENSMUSG00000051984
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
A |
T |
10: 42,301,245 (GRCm39) |
Y193N |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Aimp1 |
T |
C |
3: 132,382,772 (GRCm39) |
K44E |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,046,318 (GRCm39) |
Y369N |
unknown |
Het |
| Art5 |
A |
T |
7: 101,747,080 (GRCm39) |
V233D |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,792,836 (GRCm39) |
N431Y |
possibly damaging |
Het |
| Bik |
T |
A |
15: 83,428,364 (GRCm39) |
F131I |
possibly damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,163,082 (GRCm39) |
Y103H |
probably damaging |
Het |
| Cabp7 |
C |
T |
11: 4,696,676 (GRCm39) |
V18M |
possibly damaging |
Het |
| Cacna1a |
C |
A |
8: 85,297,866 (GRCm39) |
T1240N |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,603,739 (GRCm39) |
V1311A |
probably damaging |
Het |
| Cbarp |
A |
C |
10: 79,973,151 (GRCm39) |
S16A |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ces2b |
A |
T |
8: 105,564,472 (GRCm39) |
H494L |
possibly damaging |
Het |
| Cfap43 |
T |
A |
19: 47,728,224 (GRCm39) |
H1511L |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,675,320 (GRCm39) |
V2867A |
probably benign |
Het |
| Col5a1 |
C |
T |
2: 27,887,597 (GRCm39) |
P956L |
unknown |
Het |
| Dcakd |
T |
G |
11: 102,891,032 (GRCm39) |
Q19P |
possibly damaging |
Het |
| Ddx47 |
T |
A |
6: 135,000,301 (GRCm39) |
D432E |
probably benign |
Het |
| Dhrs7b |
T |
C |
11: 60,735,055 (GRCm39) |
F29L |
probably benign |
Het |
| Dis3l2 |
A |
T |
1: 86,918,025 (GRCm39) |
D558V |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,754,027 (GRCm39) |
D193V |
probably damaging |
Het |
| Eif1ad12 |
T |
C |
12: 87,541,663 (GRCm39) |
L58P |
probably damaging |
Het |
| Epha4 |
G |
A |
1: 77,376,422 (GRCm39) |
R486C |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,842,033 (GRCm39) |
T1404A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,490,475 (GRCm39) |
T3796A |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,518,929 (GRCm39) |
W204R |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,091 (GRCm39) |
I136V |
probably benign |
Het |
| Gm10300 |
T |
C |
4: 131,802,167 (GRCm39) |
W54R |
unknown |
Het |
| Gm10518 |
C |
T |
1: 179,630,949 (GRCm39) |
P3L |
unknown |
Het |
| Grm2 |
G |
A |
9: 106,528,257 (GRCm39) |
T209M |
probably damaging |
Het |
| Gtdc1 |
C |
T |
2: 44,525,322 (GRCm39) |
M176I |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,710,440 (GRCm39) |
L382P |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,708,011 (GRCm39) |
V734A |
possibly damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,638,472 (GRCm39) |
R586H |
probably benign |
Het |
| Kdm1a |
A |
T |
4: 136,279,838 (GRCm39) |
D721E |
probably damaging |
Het |
| Knl1 |
G |
A |
2: 118,933,003 (GRCm39) |
C2054Y |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,584,644 (GRCm39) |
P354S |
probably benign |
Het |
| Luzp2 |
A |
G |
7: 54,724,774 (GRCm39) |
I112V |
probably damaging |
Het |
| Mgl2 |
T |
C |
11: 70,026,506 (GRCm39) |
S105P |
probably damaging |
Het |
| Mocs1 |
T |
A |
17: 49,756,143 (GRCm39) |
M200K |
possibly damaging |
Het |
| Oat |
T |
A |
7: 132,168,927 (GRCm39) |
I98L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,920,312 (GRCm39) |
Y8C |
|
Het |
| Or5b108 |
G |
A |
19: 13,168,768 (GRCm39) |
V246I |
possibly damaging |
Het |
| Or6c1b |
T |
G |
10: 129,273,319 (GRCm39) |
F213V |
probably benign |
Het |
| Pde1b |
T |
A |
15: 103,430,082 (GRCm39) |
M137K |
possibly damaging |
Het |
| Phf21a |
T |
C |
2: 92,157,484 (GRCm39) |
I204T |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,593,838 (GRCm39) |
E321G |
possibly damaging |
Het |
| Plpp7 |
C |
T |
2: 31,985,662 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
A |
G |
10: 44,317,566 (GRCm39) |
I419T |
probably benign |
Het |
| Sec16b |
A |
T |
1: 157,392,032 (GRCm39) |
R855W |
probably damaging |
Het |
| Sec16b |
G |
T |
1: 157,392,033 (GRCm39) |
R855M |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,923,471 (GRCm39) |
T425A |
possibly damaging |
Het |
| Sirpd |
A |
T |
3: 15,385,704 (GRCm39) |
I66N |
probably benign |
Het |
| Skil |
T |
C |
3: 31,151,324 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
G |
A |
7: 16,519,623 (GRCm39) |
V200M |
probably damaging |
Het |
| Slc25a12 |
T |
C |
2: 71,154,369 (GRCm39) |
H139R |
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,961,630 (GRCm39) |
V187D |
probably damaging |
Het |
| Slc35a3 |
G |
A |
3: 116,505,455 (GRCm39) |
|
probably benign |
Het |
| Smap2 |
C |
A |
4: 120,829,264 (GRCm39) |
M328I |
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,600,066 (GRCm39) |
|
probably null |
Het |
| Srarp |
A |
G |
4: 141,160,389 (GRCm39) |
V148A |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,464,755 (GRCm39) |
Y73* |
probably null |
Het |
| Tars1 |
A |
G |
15: 11,392,105 (GRCm39) |
C236R |
probably benign |
Het |
| Tchh |
G |
C |
3: 93,351,837 (GRCm39) |
D426H |
unknown |
Het |
| Tnks2 |
T |
C |
19: 36,836,545 (GRCm39) |
F17S |
|
Het |
| Ube2g1 |
T |
C |
11: 72,553,939 (GRCm39) |
I30T |
possibly damaging |
Het |
| Ube2o |
C |
T |
11: 116,434,761 (GRCm39) |
D567N |
possibly damaging |
Het |
| Unc5b |
A |
T |
10: 60,608,002 (GRCm39) |
Y710* |
probably null |
Het |
| Vmn1r215 |
T |
C |
13: 23,260,089 (GRCm39) |
V43A |
possibly damaging |
Het |
| Xkr8 |
A |
G |
4: 132,455,648 (GRCm39) |
F242L |
probably benign |
Het |
| Zfp526 |
T |
A |
7: 24,925,345 (GRCm39) |
C535S |
probably 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 |
|
R2135:Sec31b
|
UTSW |
19 |
44,523,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TACCCGACTCTCGAATGGTTC -3'
(R):5'- TAAGCAGTAATCCAGTGTCTGATG -3'
Sequencing Primer
(F):5'- ACTCTCGAATGGTTCTGTGAAGC -3'
(R):5'- TCCAGTGTCTGATGAAAGAGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation