Incidental Mutation 'R5796:Sppl2c'
ID |
447249 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sppl2c
|
Ensembl Gene |
ENSMUSG00000049506 |
Gene Name |
signal peptide peptidase 2C |
Synonyms |
4933407P14Rik |
MMRRC Submission |
043387-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5796 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
104077153-104081989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104078619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 473
(M473K)
|
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: M473K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000091453 Gene: ENSMUSG00000049506 AA Change: M473K
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: M473K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000102613 Gene: ENSMUSG00000049506 AA Change: M473K
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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
93% (51/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
C |
3: 124,215,077 (GRCm39) |
T9A |
possibly damaging |
Het |
Abcd3 |
G |
A |
3: 121,578,147 (GRCm39) |
R160W |
probably damaging |
Het |
Ap3d1 |
G |
T |
10: 80,549,871 (GRCm39) |
T758K |
possibly damaging |
Het |
Ate1 |
T |
C |
7: 130,068,998 (GRCm39) |
Y423C |
probably damaging |
Het |
Bsn |
C |
T |
9: 108,003,223 (GRCm39) |
G394D |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,788,073 (GRCm39) |
D1599G |
probably damaging |
Het |
Cd33 |
A |
G |
7: 43,182,480 (GRCm39) |
|
probably null |
Het |
Chct1 |
A |
G |
11: 85,064,101 (GRCm39) |
T81A |
probably null |
Het |
Col12a1 |
T |
C |
9: 79,611,111 (GRCm39) |
N154D |
possibly damaging |
Het |
Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
Cts3 |
A |
T |
13: 61,716,517 (GRCm39) |
Y40N |
probably damaging |
Het |
Cyfip2 |
T |
C |
11: 46,089,823 (GRCm39) |
N1197D |
probably benign |
Het |
Dclre1b |
G |
A |
3: 103,714,773 (GRCm39) |
Q77* |
probably null |
Het |
Dsc3 |
T |
A |
18: 20,104,558 (GRCm39) |
M590L |
probably benign |
Het |
Efcab14 |
A |
T |
4: 115,603,780 (GRCm39) |
I153F |
probably damaging |
Het |
Fbxo42 |
T |
C |
4: 140,927,100 (GRCm39) |
V460A |
probably benign |
Het |
Fgl1 |
T |
G |
8: 41,652,796 (GRCm39) |
|
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,272,782 (GRCm39) |
S1697P |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm15056 |
C |
A |
8: 21,391,998 (GRCm39) |
|
probably benign |
Het |
Gm17409 |
T |
A |
2: 58,361,034 (GRCm39) |
|
probably benign |
Het |
Gm20730 |
A |
G |
6: 43,058,464 (GRCm39) |
L116P |
probably damaging |
Het |
Grb2 |
T |
G |
11: 115,536,698 (GRCm39) |
H184P |
probably benign |
Het |
Hepacam2 |
G |
C |
6: 3,466,200 (GRCm39) |
|
probably null |
Het |
Hsd3b9 |
A |
T |
3: 98,354,168 (GRCm39) |
D110E |
probably benign |
Het |
Igkv4-55 |
T |
A |
6: 69,584,432 (GRCm39) |
K60M |
possibly damaging |
Het |
Itfg1 |
T |
A |
8: 86,445,522 (GRCm39) |
H603L |
probably damaging |
Het |
Katna1 |
C |
A |
10: 7,636,575 (GRCm39) |
D366E |
probably damaging |
Het |
Klk1b26 |
A |
G |
7: 43,665,752 (GRCm39) |
Y188C |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,353,722 (GRCm39) |
T464A |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,411,133 (GRCm39) |
S1360P |
unknown |
Het |
Nckipsd |
T |
G |
9: 108,688,813 (GRCm39) |
V116G |
probably benign |
Het |
Nhsl1 |
C |
T |
10: 18,399,998 (GRCm39) |
S374L |
probably benign |
Het |
Oxt |
G |
A |
2: 130,418,533 (GRCm39) |
G48D |
probably damaging |
Het |
Pramel21 |
A |
G |
4: 143,341,778 (GRCm39) |
N69S |
probably benign |
Het |
Ptprk |
C |
T |
10: 28,259,571 (GRCm39) |
T337I |
probably damaging |
Het |
Rad54b |
A |
T |
4: 11,615,446 (GRCm39) |
D818V |
probably benign |
Het |
Rbpjl |
T |
C |
2: 164,252,168 (GRCm39) |
|
probably benign |
Het |
Recql5 |
T |
A |
11: 115,818,691 (GRCm39) |
|
probably benign |
Het |
Robo4 |
A |
T |
9: 37,322,970 (GRCm39) |
D830V |
probably benign |
Het |
Rps6kb1 |
C |
T |
11: 86,402,677 (GRCm39) |
G339S |
probably benign |
Het |
Rtel1 |
G |
A |
2: 180,982,299 (GRCm39) |
E350K |
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,434,832 (GRCm39) |
S368P |
possibly damaging |
Het |
Smad5 |
A |
G |
13: 56,871,645 (GRCm39) |
H80R |
probably damaging |
Het |
Tbrg1 |
A |
G |
9: 37,563,871 (GRCm39) |
|
probably benign |
Het |
Tcf7 |
A |
G |
11: 52,152,354 (GRCm39) |
I65T |
probably benign |
Het |
Tgm2 |
T |
C |
2: 157,960,824 (GRCm39) |
D618G |
probably benign |
Het |
Tuba3b |
C |
T |
6: 145,565,408 (GRCm39) |
T292I |
probably damaging |
Het |
Vmn1r63 |
G |
A |
7: 5,806,140 (GRCm39) |
S164L |
probably benign |
Het |
Zfp382 |
A |
G |
7: 29,832,774 (GRCm39) |
K142E |
probably damaging |
Het |
Zmym3 |
G |
A |
X: 100,459,406 (GRCm39) |
P308L |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTATGGTAGAAGTGGCATCAGG -3'
(R):5'- AGCAGGAATCTTGGCTCTGC -3'
Sequencing Primer
(F):5'- TCAGGTCCAGCAGATTCTTCAAG -3'
(R):5'- TCCAGAAAAGGGTGAACTCTTG -3'
|
Posted On |
2016-12-15 |