Incidental Mutation 'R7049:Smgc'
| ID |
547500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smgc
|
| Ensembl Gene |
ENSMUSG00000047295 |
| Gene Name |
submandibular gland protein C |
| Synonyms |
Sfc21, DXImx49e, 2310010P21Rik |
| MMRRC Submission |
045147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7049 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91722531-91745633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91744576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 311
(E311G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088555]
[ENSMUST00000100293]
[ENSMUST00000109276]
[ENSMUST00000109277]
[ENSMUST00000130014]
|
| AlphaFold |
Q6JHY2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088555
AA Change: E659G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: E659G
| 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: E626G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: E626G
| 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: E83G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104899
Gene: ENSMUSG00000047295
AA Change: E83G
| 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: E54G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104900
Gene: ENSMUSG00000047295
AA Change: E54G
| 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: E311G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: E311G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295
AA Change: E275G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295
AA Change: E250G
| 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 |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,941,497 (GRCm39) |
V447A |
probably benign |
Het |
| Adam6b |
A |
G |
12: 113,454,122 (GRCm39) |
D313G |
probably damaging |
Het |
| Adcy10 |
G |
T |
1: 165,367,443 (GRCm39) |
C571F |
probably damaging |
Het |
| Anxa1 |
A |
G |
19: 20,352,635 (GRCm39) |
V313A |
probably benign |
Het |
| Bpifb6 |
A |
T |
2: 153,750,733 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
A |
6: 118,578,124 (GRCm39) |
C1713F |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,754,585 (GRCm39) |
N354S |
probably benign |
Het |
| Cers2 |
A |
G |
3: 95,228,965 (GRCm39) |
D200G |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,727 (GRCm39) |
L133P |
probably damaging |
Het |
| Ddhd1 |
A |
G |
14: 45,840,138 (GRCm39) |
Y16H |
probably damaging |
Het |
| Depp1 |
T |
C |
6: 116,629,254 (GRCm39) |
L199P |
probably damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,771,009 (GRCm39) |
F122L |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,457,431 (GRCm39) |
D386E |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,828,292 (GRCm39) |
C291S |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,596,634 (GRCm39) |
S811G |
probably damaging |
Het |
| Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
| Hrnr |
C |
A |
3: 93,230,461 (GRCm39) |
S233* |
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Itgal |
A |
T |
7: 126,895,573 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,358,246 (GRCm39) |
R420G |
possibly damaging |
Het |
| Mllt6 |
T |
A |
11: 97,564,637 (GRCm39) |
L481Q |
probably damaging |
Het |
| Mtdh |
T |
A |
15: 34,131,311 (GRCm39) |
N174K |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,386 (GRCm39) |
M1507V |
probably damaging |
Het |
| Npm3 |
A |
T |
19: 45,737,994 (GRCm39) |
M1K |
probably null |
Het |
| Or1e21 |
C |
T |
11: 73,344,430 (GRCm39) |
G203R |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,190,795 (GRCm39) |
W290R |
possibly damaging |
Het |
| Prss52 |
C |
T |
14: 64,350,021 (GRCm39) |
T216I |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,763,904 (GRCm39) |
|
probably null |
Het |
| Pwwp2a |
T |
A |
11: 43,597,018 (GRCm39) |
F453I |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,082,340 (GRCm39) |
N1422S |
probably damaging |
Het |
| Scaf4 |
A |
C |
16: 90,057,075 (GRCm39) |
I92R |
unknown |
Het |
| Slc12a1 |
A |
G |
2: 125,013,177 (GRCm39) |
K345E |
probably benign |
Het |
| Slc22a28 |
A |
T |
19: 8,049,270 (GRCm39) |
N326K |
probably benign |
Het |
| Snx7 |
C |
T |
3: 117,633,680 (GRCm39) |
R90H |
possibly damaging |
Het |
| Tex101 |
A |
G |
7: 24,367,683 (GRCm39) |
I223T |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,715,853 (GRCm39) |
K1093* |
probably null |
Het |
| Tnxb |
T |
G |
17: 34,936,242 (GRCm39) |
|
probably null |
Het |
| Trio |
T |
C |
15: 27,749,885 (GRCm39) |
N2272S |
possibly damaging |
Het |
| Tubal3 |
T |
C |
13: 3,982,756 (GRCm39) |
Y179H |
probably damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,296,550 (GRCm39) |
G745D |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,973,882 (GRCm39) |
Y300* |
probably null |
Het |
| Zfp646 |
T |
A |
7: 127,479,199 (GRCm39) |
C459S |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGTGATCATCCTGGTTC -3'
(R):5'- CTTCTACTTCCAGACCCAGAAG -3'
Sequencing Primer
(F):5'- GTTCCCACACACTGTAGATGTGAAG -3'
(R):5'- ACAAATTATGGCTTCCTGGGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation