Incidental Mutation 'IGL01743:Smgc'
| ID |
152926 |
| 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 # |
IGL01743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
91722531-91745633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91738796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 485
(I485V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088555]
[ENSMUST00000100293]
[ENSMUST00000109276]
[ENSMUST00000109277]
[ENSMUST00000130014]
|
| AlphaFold |
Q6JHY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088555
AA Change: I485V
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: I485V
| 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 benign
Transcript: ENSMUST00000100293
|
| SMART Domains |
Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
| 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 |
probably benign
Transcript: ENSMUST00000130014
|
| SMART Domains |
Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
| 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: I101V
|
| SMART Domains |
Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295
AA Change: I101V
| 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: I76V
|
| SMART Domains |
Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295
AA Change: I76V
| 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: 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
T |
7: 45,646,238 (GRCm39) |
N750K |
probably benign |
Het |
| Ackr2 |
T |
C |
9: 121,738,566 (GRCm39) |
C314R |
probably benign |
Het |
| Adar |
C |
T |
3: 89,652,747 (GRCm39) |
Q210* |
probably null |
Het |
| Aifm1 |
A |
G |
X: 47,569,153 (GRCm39) |
|
probably benign |
Het |
| Aldoa |
G |
T |
7: 126,395,875 (GRCm39) |
D198E |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 103,002,201 (GRCm39) |
|
probably benign |
Het |
| Arhgef18 |
G |
T |
8: 3,414,697 (GRCm39) |
C25F |
probably benign |
Het |
| Btnl1 |
T |
C |
17: 34,604,659 (GRCm39) |
I480T |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,318,508 (GRCm39) |
S125P |
probably benign |
Het |
| Cd40lg |
T |
A |
X: 56,257,592 (GRCm39) |
Y26* |
probably null |
Het |
| Cdc42bpg |
G |
T |
19: 6,359,853 (GRCm39) |
|
probably null |
Het |
| Cdh10 |
T |
C |
15: 18,986,855 (GRCm39) |
L362P |
probably benign |
Het |
| Dhx16 |
A |
G |
17: 36,199,000 (GRCm39) |
D782G |
probably damaging |
Het |
| Dnajb14 |
G |
T |
3: 137,611,761 (GRCm39) |
V320L |
possibly damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Ercc6 |
T |
C |
14: 32,274,561 (GRCm39) |
V568A |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,789,311 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
C |
T |
5: 110,529,506 (GRCm39) |
V223M |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,351,598 (GRCm39) |
V282A |
probably damaging |
Het |
| Fxr2 |
C |
T |
11: 69,543,448 (GRCm39) |
L650F |
possibly damaging |
Het |
| Gabrq |
A |
G |
X: 71,880,448 (GRCm39) |
M314V |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,140,125 (GRCm39) |
Y157* |
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,315,747 (GRCm39) |
E175G |
probably damaging |
Het |
| Gtf3c1 |
A |
C |
7: 125,262,587 (GRCm39) |
Y1091D |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,132,069 (GRCm39) |
Q345* |
probably null |
Het |
| Hydin |
T |
C |
8: 111,319,408 (GRCm39) |
V4437A |
possibly damaging |
Het |
| Idi2 |
T |
A |
13: 9,008,578 (GRCm39) |
L112Q |
probably damaging |
Het |
| Ift80 |
C |
T |
3: 68,869,629 (GRCm39) |
V221M |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,301,507 (GRCm39) |
F205S |
probably benign |
Het |
| Irf1 |
T |
A |
11: 53,665,277 (GRCm39) |
M218K |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,270,144 (GRCm39) |
N114S |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,002,585 (GRCm39) |
V114A |
probably benign |
Het |
| Klhdc10 |
A |
G |
6: 30,441,933 (GRCm39) |
|
probably null |
Het |
| Krt78 |
C |
A |
15: 101,859,333 (GRCm39) |
R288L |
probably benign |
Het |
| Lars2 |
A |
T |
9: 123,282,313 (GRCm39) |
L632F |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,235,919 (GRCm39) |
D1220G |
probably damaging |
Het |
| Msl1 |
C |
T |
11: 98,696,245 (GRCm39) |
T597I |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,615,070 (GRCm39) |
|
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,821,179 (GRCm39) |
T435A |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,115,679 (GRCm39) |
Y4176H |
probably damaging |
Het |
| Nxpe3 |
A |
G |
16: 55,670,128 (GRCm39) |
F326L |
probably benign |
Het |
| Or13a21 |
T |
C |
7: 139,999,581 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,313,541 (GRCm39) |
S116P |
possibly damaging |
Het |
| Pak5 |
T |
A |
2: 135,929,333 (GRCm39) |
R617W |
probably damaging |
Het |
| Peak1 |
C |
A |
9: 56,166,486 (GRCm39) |
V481L |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,281,267 (GRCm39) |
|
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,844,987 (GRCm39) |
E6K |
probably benign |
Het |
| Ppp2r5c |
G |
A |
12: 110,546,868 (GRCm39) |
V454M |
probably benign |
Het |
| Ptprf |
C |
T |
4: 118,106,095 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,443,024 (GRCm39) |
|
probably null |
Het |
| Rimbp2 |
T |
A |
5: 128,874,912 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,541,892 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
A |
G |
5: 92,608,662 (GRCm39) |
V188A |
probably benign |
Het |
| Sfrp1 |
T |
A |
8: 23,902,354 (GRCm39) |
|
probably benign |
Het |
| Siglec15 |
T |
A |
18: 78,086,820 (GRCm39) |
|
probably benign |
Het |
| Tas2r124 |
A |
G |
6: 132,731,798 (GRCm39) |
I36V |
probably benign |
Het |
| Trmt10b |
G |
T |
4: 45,305,879 (GRCm39) |
G185W |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,727,352 (GRCm39) |
N798S |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,619,896 (GRCm39) |
T15924N |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,587,301 (GRCm39) |
Y912N |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,177,285 (GRCm39) |
Y690H |
probably benign |
Het |
| Vmn2r51 |
T |
C |
7: 9,834,154 (GRCm39) |
R295G |
probably damaging |
Het |
| Vpreb3 |
A |
G |
10: 75,784,231 (GRCm39) |
T14A |
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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation