Incidental Mutation 'IGL03385:Smgc'
ID |
420831 |
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: 0.062)
|
Stock # |
IGL03385
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91722531-91745633 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 91726181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 42
(H42Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088555]
[ENSMUST00000100293]
[ENSMUST00000109276]
[ENSMUST00000109277]
[ENSMUST00000126508]
[ENSMUST00000130014]
|
AlphaFold |
Q6JHY2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088555
AA Change: H88Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000085915 Gene: ENSMUSG00000047295 AA Change: H88Q
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 |
possibly damaging
Transcript: ENSMUST00000100293
AA Change: H88Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097866 Gene: ENSMUSG00000047295 AA Change: H88Q
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 |
probably benign
Transcript: ENSMUST00000109276
|
SMART Domains |
Protein: ENSMUSP00000104899 Gene: ENSMUSG00000047295
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 |
probably benign
Transcript: ENSMUST00000109277
|
SMART Domains |
Protein: ENSMUSP00000104900 Gene: ENSMUSG00000047295
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 |
noncoding transcript
Transcript: ENSMUST00000123935
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126508
AA Change: H44Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000120826 Gene: ENSMUSG00000047295 AA Change: H44Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130014
AA Change: H42Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000118530 Gene: ENSMUSG00000047295 AA Change: H42Q
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143271
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136172
|
SMART Domains |
Protein: ENSMUSP00000119575 Gene: ENSMUSG00000047295
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bbs9 |
A |
G |
9: 22,555,044 (GRCm39) |
T444A |
probably benign |
Het |
Cdh20 |
A |
G |
1: 109,993,516 (GRCm39) |
T324A |
possibly damaging |
Het |
Col14a1 |
C |
A |
15: 55,273,600 (GRCm39) |
T723K |
unknown |
Het |
Col14a1 |
G |
A |
15: 55,335,104 (GRCm39) |
G1513S |
unknown |
Het |
Col1a2 |
C |
A |
6: 4,539,612 (GRCm39) |
N1293K |
unknown |
Het |
Ctdp1 |
T |
C |
18: 80,493,133 (GRCm39) |
D454G |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
G3bp2 |
A |
G |
5: 92,216,254 (GRCm39) |
V94A |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,621,629 (GRCm39) |
S590G |
probably benign |
Het |
Gon4l |
A |
T |
3: 88,814,850 (GRCm39) |
T1940S |
probably benign |
Het |
Itk |
G |
A |
11: 46,222,688 (GRCm39) |
Q594* |
probably null |
Het |
Kcnc2 |
G |
A |
10: 112,291,691 (GRCm39) |
C293Y |
probably damaging |
Het |
Krit1 |
A |
G |
5: 3,857,452 (GRCm39) |
I86V |
possibly damaging |
Het |
Lyst |
T |
A |
13: 13,831,565 (GRCm39) |
L1663* |
probably null |
Het |
Moxd2 |
T |
C |
6: 40,855,952 (GRCm39) |
T546A |
probably damaging |
Het |
Myo7b |
G |
T |
18: 32,122,630 (GRCm39) |
Q717K |
probably benign |
Het |
Or2a51 |
T |
C |
6: 43,178,914 (GRCm39) |
V112A |
probably benign |
Het |
Or2ad1 |
A |
G |
13: 21,326,657 (GRCm39) |
V190A |
probably benign |
Het |
Ostm1 |
A |
C |
10: 42,574,140 (GRCm39) |
N123H |
probably damaging |
Het |
Pcdh10 |
A |
C |
3: 45,335,947 (GRCm39) |
S754R |
possibly damaging |
Het |
Pomt2 |
A |
T |
12: 87,163,330 (GRCm39) |
L613Q |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,376,208 (GRCm39) |
N351I |
probably damaging |
Het |
Serpinb9 |
T |
C |
13: 33,191,979 (GRCm39) |
|
probably benign |
Het |
Slc12a4 |
T |
A |
8: 106,677,496 (GRCm39) |
|
probably benign |
Het |
Tor1a |
A |
G |
2: 30,853,739 (GRCm39) |
V197A |
possibly damaging |
Het |
Ttc4 |
A |
G |
4: 106,525,397 (GRCm39) |
S246P |
probably benign |
Het |
Tti1 |
G |
A |
2: 157,834,945 (GRCm39) |
A1005V |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,338,824 (GRCm39) |
I63F |
probably damaging |
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 |
IGL03352:Smgc
|
APN |
15 |
91,744,876 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |