Incidental Mutation 'IGL01669:Smgc'
ID |
103428 |
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 # |
IGL01669
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91722531-91745633 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 91744882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 381
(S381T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088555]
[ENSMUST00000100293]
[ENSMUST00000109276]
[ENSMUST00000109277]
[ENSMUST00000130014]
|
AlphaFold |
Q6JHY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088555
AA Change: S729T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000085915 Gene: ENSMUSG00000047295 AA Change: S729T
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: S696T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097866 Gene: ENSMUSG00000047295 AA Change: S696T
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
AA Change: S153T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000104899 Gene: ENSMUSG00000047295 AA Change: S153T
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
AA Change: S124T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000104900 Gene: ENSMUSG00000047295 AA Change: S124T
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: S381T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118530 Gene: ENSMUSG00000047295 AA Change: S381T
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: S345T
|
SMART Domains |
Protein: ENSMUSP00000120578 Gene: ENSMUSG00000047295 AA Change: S345T
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: S315T
|
SMART Domains |
Protein: ENSMUSP00000119575 Gene: ENSMUSG00000047295 AA Change: S315T
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl4 |
G |
T |
X: 141,126,184 (GRCm39) |
D313E |
probably damaging |
Het |
Aifm3 |
A |
C |
16: 17,321,405 (GRCm39) |
K453T |
probably benign |
Het |
Anks1b |
T |
C |
10: 90,733,100 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,229,840 (GRCm39) |
D1287G |
probably damaging |
Het |
Bcl3 |
G |
A |
7: 19,546,416 (GRCm39) |
Q140* |
probably null |
Het |
Bnipl |
T |
G |
3: 95,150,045 (GRCm39) |
R316S |
probably damaging |
Het |
Cacna1i |
T |
A |
15: 80,275,958 (GRCm39) |
H1916Q |
probably benign |
Het |
Ccdc171 |
C |
T |
4: 83,599,432 (GRCm39) |
A749V |
probably damaging |
Het |
Ceacam18 |
G |
A |
7: 43,294,939 (GRCm39) |
G333E |
probably damaging |
Het |
Cul7 |
G |
T |
17: 46,969,641 (GRCm39) |
M969I |
possibly damaging |
Het |
Cylc2 |
A |
G |
4: 51,228,360 (GRCm39) |
T144A |
probably benign |
Het |
Cyp2c50 |
A |
T |
19: 40,086,495 (GRCm39) |
H294L |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,085,306 (GRCm39) |
K1081R |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,519,866 (GRCm39) |
K456R |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,313,389 (GRCm39) |
N186S |
possibly damaging |
Het |
Fanci |
A |
T |
7: 79,098,925 (GRCm39) |
E1306D |
probably benign |
Het |
Fbxl21 |
T |
A |
13: 56,675,522 (GRCm39) |
|
probably benign |
Het |
Galk2 |
T |
A |
2: 125,729,807 (GRCm39) |
Y63N |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,905,166 (GRCm39) |
D97G |
probably damaging |
Het |
Gm8258 |
T |
A |
5: 104,923,940 (GRCm39) |
|
noncoding transcript |
Het |
Irf4 |
G |
T |
13: 30,941,454 (GRCm39) |
S270I |
probably damaging |
Het |
Itgb3 |
C |
A |
11: 104,524,216 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
A |
C |
6: 146,081,727 (GRCm39) |
I2299R |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,023,673 (GRCm39) |
I36V |
probably benign |
Het |
Nedd9 |
A |
G |
13: 41,492,111 (GRCm39) |
V133A |
probably damaging |
Het |
Nup133 |
A |
C |
8: 124,665,869 (GRCm39) |
Y185* |
probably null |
Het |
Or51b6b |
A |
T |
7: 103,310,194 (GRCm39) |
F88I |
probably benign |
Het |
Or5d14 |
T |
C |
2: 87,880,128 (GRCm39) |
Y280C |
possibly damaging |
Het |
Or6c3 |
A |
G |
10: 129,309,080 (GRCm39) |
H173R |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,101,138 (GRCm39) |
T373S |
possibly damaging |
Het |
Ppp1r8 |
T |
C |
4: 132,555,480 (GRCm39) |
E246G |
probably benign |
Het |
Rmnd5b |
C |
T |
11: 51,518,727 (GRCm39) |
V89M |
probably damaging |
Het |
Rnf123 |
T |
C |
9: 107,935,555 (GRCm39) |
I969V |
probably damaging |
Het |
Ror2 |
A |
G |
13: 53,265,124 (GRCm39) |
I656T |
probably damaging |
Het |
Sgsm1 |
T |
C |
5: 113,411,356 (GRCm39) |
E503G |
probably benign |
Het |
Tlr4 |
T |
G |
4: 66,759,504 (GRCm39) |
F766V |
possibly damaging |
Het |
Tnc |
T |
C |
4: 63,918,938 (GRCm39) |
T1162A |
probably damaging |
Het |
Usp39 |
A |
G |
6: 72,315,476 (GRCm39) |
V156A |
probably damaging |
Het |
Zdhhc5 |
A |
G |
2: 84,521,538 (GRCm39) |
Y352H |
probably damaging |
Het |
Zfp646 |
A |
G |
7: 127,478,137 (GRCm39) |
T105A |
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 |
|
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 |
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 |
2014-01-21 |