Incidental Mutation 'IGL02326:Sppl2c'
| ID |
288474 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sppl2c
|
| Ensembl Gene |
ENSMUSG00000049506 |
| Gene Name |
signal peptide peptidase 2C |
| Synonyms |
4933407P14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL02326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
104077153-104081989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104078099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 300
(T300A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059448]
[ENSMUST00000107000]
|
| AlphaFold |
A2A6C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059448
AA Change: T300A
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000091453
Gene: ENSMUSG00000049506
AA Change: T300A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:PA
|
62 |
169 |
1.8e-8 |
PFAM |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
237 |
N/A |
INTRINSIC |
|
PSN
|
256 |
528 |
1.08e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107000
AA Change: T300A
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102613
Gene: ENSMUSG00000049506
AA Change: T300A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:PA
|
62 |
169 |
2.3e-8 |
PFAM |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
237 |
N/A |
INTRINSIC |
|
PSN
|
256 |
528 |
1.08e-95 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
T |
C |
3: 121,465,051 (GRCm39) |
V29A |
unknown |
Het |
| Abcc8 |
C |
A |
7: 45,772,281 (GRCm39) |
|
probably null |
Het |
| Ankar |
A |
T |
1: 72,705,514 (GRCm39) |
I614N |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,873,364 (GRCm39) |
R49H |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,671,654 (GRCm39) |
H1123R |
probably damaging |
Het |
| Casp12 |
T |
C |
9: 5,358,317 (GRCm39) |
Y375H |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,062,770 (GRCm39) |
I861T |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,902,764 (GRCm39) |
L485P |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,336,712 (GRCm39) |
N25K |
possibly damaging |
Het |
| Col14a1 |
T |
C |
15: 55,282,193 (GRCm39) |
V818A |
unknown |
Het |
| Csmd3 |
G |
A |
15: 47,619,359 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,869,755 (GRCm39) |
Y509C |
probably damaging |
Het |
| Fabp2 |
C |
T |
3: 122,692,395 (GRCm39) |
R96C |
probably damaging |
Het |
| Fam53a |
T |
C |
5: 33,757,938 (GRCm39) |
D395G |
probably damaging |
Het |
| Gabrb1 |
T |
A |
5: 71,858,190 (GRCm39) |
I72K |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,340,964 (GRCm39) |
S4479N |
probably damaging |
Het |
| Hrnr |
C |
T |
3: 93,231,052 (GRCm39) |
T430I |
unknown |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,235 (GRCm39) |
T47S |
probably benign |
Het |
| Ilk |
C |
A |
7: 105,390,840 (GRCm39) |
P261Q |
probably damaging |
Het |
| Ints10 |
T |
G |
8: 69,257,485 (GRCm39) |
D228E |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,472,816 (GRCm39) |
S782R |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,467,897 (GRCm39) |
S1046P |
probably damaging |
Het |
| Musk |
C |
T |
4: 58,354,113 (GRCm39) |
P374S |
probably benign |
Het |
| Or52e18 |
T |
A |
7: 104,609,853 (GRCm39) |
I29F |
probably benign |
Het |
| Or5b108 |
C |
A |
19: 13,168,779 (GRCm39) |
Y249* |
probably null |
Het |
| Or5j1 |
G |
A |
2: 86,879,355 (GRCm39) |
S75L |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,699,019 (GRCm39) |
I228N |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,624,941 (GRCm39) |
Y246H |
probably benign |
Het |
| Plekha5 |
G |
T |
6: 140,529,576 (GRCm39) |
G340* |
probably null |
Het |
| Plxna4 |
T |
A |
6: 32,129,840 (GRCm39) |
M1828L |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,105 (GRCm39) |
I252T |
probably benign |
Het |
| Pura |
A |
G |
18: 36,420,831 (GRCm39) |
D206G |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,612,713 (GRCm39) |
F782I |
probably damaging |
Het |
| Rbp4 |
T |
C |
19: 38,112,563 (GRCm39) |
D90G |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scn7a |
C |
A |
2: 66,530,392 (GRCm39) |
R651L |
probably benign |
Het |
| Sh2d3c |
A |
T |
2: 32,639,163 (GRCm39) |
|
probably null |
Het |
| Slc43a1 |
T |
G |
2: 84,680,115 (GRCm39) |
L87R |
probably damaging |
Het |
| Srgap2 |
T |
A |
1: 131,284,645 (GRCm39) |
|
probably null |
Het |
| Tkt |
G |
A |
14: 30,294,182 (GRCm39) |
V531M |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,233,431 (GRCm39) |
D173G |
possibly damaging |
Het |
| Ugt2b37 |
G |
T |
5: 87,388,861 (GRCm39) |
H451N |
probably benign |
Het |
| Ugt2b38 |
C |
T |
5: 87,571,592 (GRCm39) |
D147N |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,255 (GRCm39) |
I41T |
probably benign |
Het |
| Vwa5a |
A |
T |
9: 38,649,252 (GRCm39) |
T667S |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,889,633 (GRCm39) |
E672G |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,834,727 (GRCm39) |
M1K |
probably null |
Het |
| Zmym1 |
T |
C |
4: 126,941,553 (GRCm39) |
E847G |
probably damaging |
Het |
|
| Other mutations in Sppl2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00814:Sppl2c
|
APN |
11 |
104,077,805 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02479:Sppl2c
|
APN |
11 |
104,077,763 (GRCm39) |
missense |
probably benign |
|
|
H8786:Sppl2c
|
UTSW |
11 |
104,077,691 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0083:Sppl2c
|
UTSW |
11 |
104,077,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1625:Sppl2c
|
UTSW |
11 |
104,077,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1913:Sppl2c
|
UTSW |
11 |
104,078,715 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2037:Sppl2c
|
UTSW |
11 |
104,077,307 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2869:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2869:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2871:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2871:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2873:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3009:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3010:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3011:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4698:Sppl2c
|
UTSW |
11 |
104,079,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4718:Sppl2c
|
UTSW |
11 |
104,079,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4841:Sppl2c
|
UTSW |
11 |
104,078,478 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4842:Sppl2c
|
UTSW |
11 |
104,078,478 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5248:Sppl2c
|
UTSW |
11 |
104,077,407 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5288:Sppl2c
|
UTSW |
11 |
104,078,127 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5300:Sppl2c
|
UTSW |
11 |
104,077,901 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5384:Sppl2c
|
UTSW |
11 |
104,078,127 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5386:Sppl2c
|
UTSW |
11 |
104,078,127 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5427:Sppl2c
|
UTSW |
11 |
104,078,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5452:Sppl2c
|
UTSW |
11 |
104,078,126 (GRCm39) |
missense |
probably benign |
|
|
R5796:Sppl2c
|
UTSW |
11 |
104,078,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6112:Sppl2c
|
UTSW |
11 |
104,077,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6452:Sppl2c
|
UTSW |
11 |
104,079,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6476:Sppl2c
|
UTSW |
11 |
104,077,595 (GRCm39) |
missense |
probably benign |
|
|
R7368:Sppl2c
|
UTSW |
11 |
104,078,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7871:Sppl2c
|
UTSW |
11 |
104,079,342 (GRCm39) |
splice site |
probably null |
|
|
R7896:Sppl2c
|
UTSW |
11 |
104,077,956 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7991:Sppl2c
|
UTSW |
11 |
104,078,640 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7991:Sppl2c
|
UTSW |
11 |
104,078,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8035:Sppl2c
|
UTSW |
11 |
104,078,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8221:Sppl2c
|
UTSW |
11 |
104,077,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8243:Sppl2c
|
UTSW |
11 |
104,078,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8462:Sppl2c
|
UTSW |
11 |
104,077,532 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8474:Sppl2c
|
UTSW |
11 |
104,078,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9368:Sppl2c
|
UTSW |
11 |
104,078,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:Sppl2c
|
UTSW |
11 |
104,078,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9672:Sppl2c
|
UTSW |
11 |
104,077,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation