Incidental Mutation 'IGL03352:Smgc'
ID |
419771 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Smgc
|
Ensembl Gene |
ENSMUSG00000047295 |
Gene Name |
submandibular gland protein C |
Synonyms |
Sfc21, DXImx49e, 2310010P21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL03352
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91722531-91745633 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91744876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 694
(S694P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088555]
[ENSMUST00000100293]
[ENSMUST00000109276]
[ENSMUST00000109277]
[ENSMUST00000130014]
|
AlphaFold |
Q6JHY2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088555
AA Change: S727P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000085915 Gene: ENSMUSG00000047295 AA Change: S727P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
internal_repeat_1
|
55 |
224 |
2.76e-22 |
PROSPERO |
low complexity region
|
225 |
235 |
N/A |
INTRINSIC |
low complexity region
|
256 |
270 |
N/A |
INTRINSIC |
internal_repeat_1
|
294 |
464 |
2.76e-22 |
PROSPERO |
low complexity region
|
563 |
574 |
N/A |
INTRINSIC |
low complexity region
|
609 |
626 |
N/A |
INTRINSIC |
low complexity region
|
652 |
667 |
N/A |
INTRINSIC |
low complexity region
|
677 |
701 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100293
AA Change: S694P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000097866 Gene: ENSMUSG00000047295 AA Change: S694P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
internal_repeat_2
|
32 |
180 |
5.58e-9 |
PROSPERO |
internal_repeat_1
|
55 |
224 |
1.24e-22 |
PROSPERO |
low complexity region
|
225 |
235 |
N/A |
INTRINSIC |
low complexity region
|
256 |
270 |
N/A |
INTRINSIC |
internal_repeat_1
|
294 |
464 |
1.24e-22 |
PROSPERO |
internal_repeat_2
|
420 |
569 |
5.58e-9 |
PROSPERO |
low complexity region
|
576 |
593 |
N/A |
INTRINSIC |
low complexity region
|
619 |
634 |
N/A |
INTRINSIC |
low complexity region
|
644 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109276
AA Change: S151P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104899 Gene: ENSMUSG00000047295 AA Change: S151P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
76 |
91 |
N/A |
INTRINSIC |
low complexity region
|
101 |
125 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109277
AA Change: S122P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104900 Gene: ENSMUSG00000047295 AA Change: S122P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
low complexity region
|
72 |
96 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130014
AA Change: S379P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118530 Gene: ENSMUSG00000047295 AA Change: S379P
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
113 |
156 |
5.82e-16 |
PROSPERO |
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
low complexity region
|
210 |
224 |
N/A |
INTRINSIC |
internal_repeat_1
|
233 |
276 |
5.82e-16 |
PROSPERO |
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
low complexity region
|
329 |
353 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132674
AA Change: S343P
|
SMART Domains |
Protein: ENSMUSP00000120578 Gene: ENSMUSG00000047295 AA Change: S343P
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
12 |
37 |
9.28e-9 |
PROSPERO |
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
internal_repeat_1
|
194 |
219 |
9.28e-9 |
PROSPERO |
low complexity region
|
226 |
243 |
N/A |
INTRINSIC |
low complexity region
|
269 |
284 |
N/A |
INTRINSIC |
low complexity region
|
294 |
318 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000136172
AA Change: S313P
|
SMART Domains |
Protein: ENSMUSP00000119575 Gene: ENSMUSG00000047295 AA Change: S313P
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
low complexity region
|
201 |
218 |
N/A |
INTRINSIC |
low complexity region
|
244 |
259 |
N/A |
INTRINSIC |
low complexity region
|
269 |
288 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143271
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160242
|
SMART Domains |
Protein: ENSMUSP00000125205 Gene: ENSMUSG00000044021
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
VWD
|
47 |
198 |
1.31e-13 |
SMART |
Pfam:C8
|
221 |
293 |
1.1e-8 |
PFAM |
Pfam:TIL
|
298 |
353 |
1.6e-11 |
PFAM |
VWD
|
383 |
545 |
1.58e-25 |
SMART |
C8
|
577 |
651 |
8.71e-20 |
SMART |
Pfam:TIL
|
654 |
711 |
2.1e-7 |
PFAM |
Pfam:TIL
|
753 |
813 |
5.2e-8 |
PFAM |
VWD
|
842 |
1005 |
2.36e-47 |
SMART |
C8
|
1041 |
1115 |
1.84e-27 |
SMART |
low complexity region
|
1220 |
1254 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoah |
A |
G |
13: 21,184,213 (GRCm39) |
S426G |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,114,355 (GRCm39) |
|
probably benign |
Het |
Arhgap45 |
T |
A |
10: 79,866,585 (GRCm39) |
N1029K |
probably damaging |
Het |
Arhgef10l |
A |
T |
4: 140,311,242 (GRCm39) |
M1K |
probably null |
Het |
Bloc1s6 |
T |
C |
2: 122,584,638 (GRCm39) |
L71P |
probably damaging |
Het |
Ccer1 |
G |
T |
10: 97,529,439 (GRCm39) |
R34M |
unknown |
Het |
Cd44 |
T |
C |
2: 102,675,759 (GRCm39) |
|
probably benign |
Het |
Col17a1 |
T |
C |
19: 47,669,814 (GRCm39) |
|
probably null |
Het |
Cspp1 |
A |
G |
1: 10,117,662 (GRCm39) |
E38G |
possibly damaging |
Het |
Dock10 |
A |
T |
1: 80,584,013 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
A |
T |
18: 20,660,689 (GRCm39) |
M343L |
probably benign |
Het |
Eif3l |
G |
A |
15: 78,961,251 (GRCm39) |
|
probably benign |
Het |
Fcrl1 |
T |
C |
3: 87,292,398 (GRCm39) |
L150P |
probably benign |
Het |
Flg2 |
T |
G |
3: 93,109,801 (GRCm39) |
S610A |
unknown |
Het |
Grin3b |
C |
T |
10: 79,809,615 (GRCm39) |
R374C |
probably damaging |
Het |
H2-Oa |
A |
T |
17: 34,313,377 (GRCm39) |
I143F |
probably damaging |
Het |
Itgae |
C |
T |
11: 73,022,556 (GRCm39) |
P924S |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,058,602 (GRCm39) |
D2521V |
probably damaging |
Het |
Itprid2 |
T |
A |
2: 79,475,445 (GRCm39) |
M468K |
probably damaging |
Het |
Laptm4a |
G |
A |
12: 8,981,719 (GRCm39) |
G143D |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,456,726 (GRCm39) |
Y846C |
probably damaging |
Het |
Mcm10 |
A |
T |
2: 4,999,407 (GRCm39) |
S749T |
probably damaging |
Het |
Nemf |
T |
C |
12: 69,378,679 (GRCm39) |
N548D |
probably damaging |
Het |
Nlrp4e |
T |
A |
7: 23,020,251 (GRCm39) |
L246Q |
probably damaging |
Het |
Nsun6 |
A |
T |
2: 15,001,157 (GRCm39) |
C466* |
probably null |
Het |
Olfm2 |
T |
C |
9: 20,580,019 (GRCm39) |
D252G |
probably damaging |
Het |
Or10j5 |
A |
C |
1: 172,784,850 (GRCm39) |
M163L |
probably benign |
Het |
Or14j9 |
T |
A |
17: 37,874,681 (GRCm39) |
I174F |
probably damaging |
Het |
Or2h1 |
G |
A |
17: 37,404,311 (GRCm39) |
L152F |
probably benign |
Het |
Or9i14 |
T |
C |
19: 13,792,292 (GRCm39) |
I221V |
probably damaging |
Het |
Pcdhb14 |
C |
T |
18: 37,582,057 (GRCm39) |
R388C |
possibly damaging |
Het |
Piwil1 |
C |
T |
5: 128,828,136 (GRCm39) |
T712I |
probably benign |
Het |
Piwil4 |
G |
T |
9: 14,637,183 (GRCm39) |
T377K |
probably damaging |
Het |
Prg3 |
T |
C |
2: 84,823,370 (GRCm39) |
F182L |
probably damaging |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Retsat |
T |
C |
6: 72,575,666 (GRCm39) |
V19A |
probably damaging |
Het |
Rpl21-ps4 |
A |
T |
14: 11,227,760 (GRCm38) |
|
noncoding transcript |
Het |
Sh3glb2 |
A |
G |
2: 30,235,363 (GRCm39) |
V370A |
probably damaging |
Het |
Skint4 |
G |
T |
4: 112,022,883 (GRCm39) |
W459C |
possibly damaging |
Het |
Slco1a1 |
T |
A |
6: 141,857,611 (GRCm39) |
R573S |
probably benign |
Het |
Spaca6 |
A |
G |
17: 18,058,401 (GRCm39) |
Y7C |
probably damaging |
Het |
Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
Tepsin |
C |
T |
11: 119,982,703 (GRCm39) |
V456I |
probably benign |
Het |
Tex261 |
C |
T |
6: 83,748,249 (GRCm39) |
R171Q |
possibly damaging |
Het |
Tmem184a |
A |
T |
5: 139,798,755 (GRCm39) |
F65I |
probably damaging |
Het |
Tpm3 |
G |
A |
3: 89,995,052 (GRCm39) |
|
probably null |
Het |
Tubgcp2 |
T |
A |
7: 139,580,940 (GRCm39) |
H671L |
probably benign |
Het |
Unc13b |
T |
G |
4: 43,237,110 (GRCm39) |
D3393E |
possibly damaging |
Het |
Vcan |
T |
A |
13: 89,853,125 (GRCm39) |
M612L |
probably benign |
Het |
Vmn1r180 |
C |
A |
7: 23,652,077 (GRCm39) |
S80* |
probably null |
Het |
Vmn1r64 |
C |
T |
7: 5,887,070 (GRCm39) |
V158I |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,894,072 (GRCm39) |
V496I |
possibly damaging |
Het |
Wee2 |
T |
G |
6: 40,429,589 (GRCm39) |
|
probably null |
Het |
Zfp804b |
T |
C |
5: 6,820,039 (GRCm39) |
N972S |
probably benign |
Het |
|
Other mutations in Smgc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00797:Smgc
|
APN |
15 |
91,738,746 (GRCm39) |
splice site |
probably benign |
|
IGL00835:Smgc
|
APN |
15 |
91,728,623 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01651:Smgc
|
APN |
15 |
91,743,986 (GRCm39) |
intron |
probably benign |
|
IGL01669:Smgc
|
APN |
15 |
91,744,882 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01743:Smgc
|
APN |
15 |
91,738,796 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01898:Smgc
|
APN |
15 |
91,728,727 (GRCm39) |
splice site |
probably null |
|
IGL03152:Smgc
|
APN |
15 |
91,725,625 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03172:Smgc
|
APN |
15 |
91,744,642 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03385:Smgc
|
APN |
15 |
91,726,181 (GRCm39) |
missense |
possibly damaging |
0.66 |
K7371:Smgc
|
UTSW |
15 |
91,744,453 (GRCm39) |
splice site |
probably benign |
|
R0090:Smgc
|
UTSW |
15 |
91,743,960 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0125:Smgc
|
UTSW |
15 |
91,738,746 (GRCm39) |
splice site |
probably benign |
|
R0386:Smgc
|
UTSW |
15 |
91,738,841 (GRCm39) |
missense |
probably benign |
0.07 |
R0684:Smgc
|
UTSW |
15 |
91,725,670 (GRCm39) |
unclassified |
probably benign |
|
R1187:Smgc
|
UTSW |
15 |
91,744,798 (GRCm39) |
missense |
probably damaging |
0.99 |
R1586:Smgc
|
UTSW |
15 |
91,722,596 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1848:Smgc
|
UTSW |
15 |
91,743,956 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1964:Smgc
|
UTSW |
15 |
91,744,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Smgc
|
UTSW |
15 |
91,728,624 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3499:Smgc
|
UTSW |
15 |
91,726,206 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3842:Smgc
|
UTSW |
15 |
91,744,460 (GRCm39) |
splice site |
probably benign |
|
R3978:Smgc
|
UTSW |
15 |
91,744,546 (GRCm39) |
missense |
probably damaging |
0.99 |
R4173:Smgc
|
UTSW |
15 |
91,744,759 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4692:Smgc
|
UTSW |
15 |
91,738,764 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4761:Smgc
|
UTSW |
15 |
91,729,717 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4794:Smgc
|
UTSW |
15 |
91,725,657 (GRCm39) |
missense |
probably benign |
0.27 |
R4801:Smgc
|
UTSW |
15 |
91,738,819 (GRCm39) |
missense |
probably benign |
0.01 |
R4802:Smgc
|
UTSW |
15 |
91,738,819 (GRCm39) |
missense |
probably benign |
0.01 |
R5621:Smgc
|
UTSW |
15 |
91,728,623 (GRCm39) |
missense |
probably damaging |
0.99 |
R5672:Smgc
|
UTSW |
15 |
91,726,108 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5707:Smgc
|
UTSW |
15 |
91,744,861 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5722:Smgc
|
UTSW |
15 |
91,726,109 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6212:Smgc
|
UTSW |
15 |
91,734,830 (GRCm39) |
intron |
probably benign |
|
R6767:Smgc
|
UTSW |
15 |
91,725,601 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7049:Smgc
|
UTSW |
15 |
91,744,576 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7155:Smgc
|
UTSW |
15 |
91,736,811 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7210:Smgc
|
UTSW |
15 |
91,744,492 (GRCm39) |
missense |
probably damaging |
0.99 |
R7448:Smgc
|
UTSW |
15 |
91,729,696 (GRCm39) |
missense |
probably benign |
0.02 |
R7474:Smgc
|
UTSW |
15 |
91,744,892 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7890:Smgc
|
UTSW |
15 |
91,731,279 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8115:Smgc
|
UTSW |
15 |
91,733,322 (GRCm39) |
critical splice donor site |
probably null |
|
R8948:Smgc
|
UTSW |
15 |
91,722,565 (GRCm39) |
unclassified |
probably benign |
|
R9445:Smgc
|
UTSW |
15 |
91,729,665 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Smgc
|
UTSW |
15 |
91,740,829 (GRCm39) |
missense |
unknown |
|
Z1177:Smgc
|
UTSW |
15 |
91,740,824 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2016-08-02 |