Incidental Mutation 'R6112:Sppl2c'
ID |
484919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sppl2c
|
Ensembl Gene |
ENSMUSG00000049506 |
Gene Name |
signal peptide peptidase 2C |
Synonyms |
4933407P14Rik |
MMRRC Submission |
044261-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R6112 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
104077153-104081989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104077963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 254
(E254D)
|
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: E254D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000091453 Gene: ENSMUSG00000049506 AA Change: E254D
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: E254D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000102613 Gene: ENSMUSG00000049506 AA Change: E254D
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
G |
16: 14,278,780 (GRCm39) |
Y1030C |
probably damaging |
Het |
Adh5 |
G |
T |
3: 138,157,029 (GRCm39) |
V197F |
probably damaging |
Het |
Ankmy1 |
A |
T |
1: 92,798,684 (GRCm39) |
F936I |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,885,625 (GRCm39) |
D710V |
probably damaging |
Het |
Aplp1 |
T |
C |
7: 30,134,902 (GRCm39) |
E622G |
probably damaging |
Het |
Arhgap20 |
T |
C |
9: 51,740,684 (GRCm39) |
Y219H |
probably damaging |
Het |
Bag3 |
A |
G |
7: 128,143,556 (GRCm39) |
D184G |
probably damaging |
Het |
Cacna1g |
C |
T |
11: 94,300,072 (GRCm39) |
A2216T |
probably damaging |
Het |
Cbarp |
T |
C |
10: 79,971,205 (GRCm39) |
|
probably null |
Het |
Cep250 |
C |
A |
2: 155,836,503 (GRCm39) |
L2211I |
possibly damaging |
Het |
Cfap65 |
A |
G |
1: 74,942,298 (GRCm39) |
I1752T |
probably benign |
Het |
Col4a4 |
A |
G |
1: 82,431,604 (GRCm39) |
V1560A |
unknown |
Het |
Dapk3 |
A |
T |
10: 81,019,864 (GRCm39) |
Q6L |
probably benign |
Het |
Dctn5 |
A |
G |
7: 121,732,460 (GRCm39) |
|
probably benign |
Het |
Eef1akmt1 |
A |
T |
14: 57,787,330 (GRCm39) |
I182N |
possibly damaging |
Het |
Eef1g |
T |
C |
19: 8,954,955 (GRCm39) |
F346S |
probably damaging |
Het |
Erap1 |
G |
T |
13: 74,794,398 (GRCm39) |
W19L |
probably benign |
Het |
Gm10801 |
A |
G |
2: 98,494,409 (GRCm39) |
H162R |
probably benign |
Het |
Gpm6a |
G |
A |
8: 55,507,845 (GRCm39) |
A194T |
probably benign |
Het |
Grip1 |
C |
A |
10: 119,829,137 (GRCm39) |
N32K |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,494,687 (GRCm39) |
I4134T |
probably damaging |
Het |
Hspa14 |
G |
A |
2: 3,499,105 (GRCm39) |
H230Y |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,414,241 (GRCm39) |
T1435A |
probably benign |
Het |
Igsf3 |
T |
A |
3: 101,358,322 (GRCm39) |
Y738N |
probably damaging |
Het |
Lcor |
T |
C |
19: 41,547,520 (GRCm39) |
V368A |
possibly damaging |
Het |
Lmna |
C |
A |
3: 88,393,928 (GRCm39) |
E217* |
probably null |
Het |
Lrp1b |
C |
T |
2: 41,231,894 (GRCm39) |
G337E |
probably benign |
Het |
Maf1 |
A |
G |
15: 76,236,312 (GRCm39) |
|
probably benign |
Het |
Magi1 |
T |
C |
6: 93,722,571 (GRCm39) |
I436V |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,596,157 (GRCm39) |
T3123I |
possibly damaging |
Het |
Muc5b |
T |
A |
7: 141,417,042 (GRCm39) |
H3329Q |
probably benign |
Het |
Noa1 |
C |
T |
5: 77,457,593 (GRCm39) |
R104Q |
probably benign |
Het |
Odc1 |
T |
G |
12: 17,599,473 (GRCm39) |
S267A |
probably benign |
Het |
Or5p60 |
T |
A |
7: 107,724,369 (GRCm39) |
I34F |
probably benign |
Het |
Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
Pamr1 |
T |
C |
2: 102,441,953 (GRCm39) |
Y181H |
probably damaging |
Het |
Pcdhga2 |
T |
A |
18: 37,802,612 (GRCm39) |
I152N |
probably damaging |
Het |
Pigt |
C |
T |
2: 164,348,365 (GRCm39) |
Q437* |
probably null |
Het |
Prx |
T |
C |
7: 27,215,973 (GRCm39) |
L158P |
probably damaging |
Het |
Ptprh |
T |
A |
7: 4,600,922 (GRCm39) |
T152S |
probably benign |
Het |
Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
Rad51ap2 |
T |
C |
12: 11,507,290 (GRCm39) |
I404T |
probably benign |
Het |
Radil |
C |
T |
5: 142,529,399 (GRCm39) |
R99H |
probably damaging |
Het |
Rc3h2 |
C |
T |
2: 37,268,899 (GRCm39) |
V856I |
possibly damaging |
Het |
Slx4ip |
T |
A |
2: 136,888,664 (GRCm39) |
V115E |
probably damaging |
Het |
Snx3 |
C |
A |
10: 42,402,042 (GRCm39) |
S85R |
probably benign |
Het |
Srms |
C |
A |
2: 180,849,780 (GRCm39) |
E237* |
probably null |
Het |
Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,805 (GRCm39) |
L2514P |
probably damaging |
Het |
Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
Usp4 |
A |
G |
9: 108,233,703 (GRCm39) |
Y108C |
probably damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,844,847 (GRCm39) |
I737F |
probably damaging |
Het |
Zfp600 |
A |
T |
4: 146,131,701 (GRCm39) |
H123L |
probably benign |
Het |
Zfp646 |
G |
T |
7: 127,478,190 (GRCm39) |
R122S |
possibly damaging |
Het |
Znfx1 |
A |
G |
2: 166,880,126 (GRCm39) |
Y553H |
probably benign |
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 |
IGL02326:Sppl2c
|
APN |
11 |
104,078,099 (GRCm39) |
missense |
probably benign |
0.27 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCATCTTGGCAGTGGGTAC -3'
(R):5'- TGTTACAGAAACCCGTTGTCCAG -3'
Sequencing Primer
(F):5'- TACTGTTGCTGCAGGTGGCTAC -3'
(R):5'- GAAACCCGTTGTCCAGGCAAG -3'
|
Posted On |
2017-08-16 |