Incidental Mutation 'R7890:Smgc'
| ID |
609299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smgc
|
| Ensembl Gene |
ENSMUSG00000047295 |
| Gene Name |
submandibular gland protein C |
| Synonyms |
Sfc21, DXImx49e, 2310010P21Rik |
| MMRRC Submission |
045942-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7890 (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 T
at 91731279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 241
(Q241L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085915
(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: Q241L
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: Q241L
| 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 |
unknown
Transcript: ENSMUST00000100293
AA Change: Q241L
|
| SMART Domains |
Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: Q241L
| 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 |
probably benign
Transcript: ENSMUST00000126508
|
| SMART Domains |
Protein: ENSMUSP00000120826
Gene: ENSMUSG00000047295
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130014
AA Change: Q195L
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: Q195L
| 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 |
probably benign
Transcript: ENSMUST00000132674
|
| SMART Domains |
Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295
| 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: Q39L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,031,969 (GRCm39) |
K551N |
probably benign |
Het |
| Acp4 |
A |
C |
7: 43,903,528 (GRCm39) |
L262R |
probably damaging |
Het |
| Acsf3 |
G |
T |
8: 123,512,704 (GRCm39) |
|
probably null |
Het |
| Ago4 |
T |
C |
4: 126,419,869 (GRCm39) |
Q36R |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,968,379 (GRCm39) |
I672K |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,407,903 (GRCm39) |
D628V |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,462,846 (GRCm39) |
V870A |
possibly damaging |
Het |
| Camk4 |
T |
C |
18: 33,318,058 (GRCm39) |
V405A |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,197,215 (GRCm39) |
S146T |
|
Het |
| Cflar |
T |
A |
1: 58,791,915 (GRCm39) |
L406Q |
|
Het |
| Clic6 |
T |
A |
16: 92,296,275 (GRCm39) |
S312T |
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,444,147 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
C |
A |
11: 68,917,355 (GRCm39) |
Q384K |
probably damaging |
Het |
| Defa24 |
A |
G |
8: 22,224,556 (GRCm39) |
K2E |
probably damaging |
Het |
| Dis3l |
C |
A |
9: 64,229,753 (GRCm39) |
A309S |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,962,898 (GRCm39) |
S1806P |
probably damaging |
Het |
| Dolk |
C |
T |
2: 30,174,726 (GRCm39) |
V440I |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,762,298 (GRCm39) |
|
probably null |
Het |
| Fntb |
T |
C |
12: 76,920,224 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
A |
T |
1: 166,322,228 (GRCm39) |
V113E |
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,936,183 (GRCm39) |
Q228H |
probably damaging |
Het |
| Gm5916 |
T |
A |
9: 36,032,291 (GRCm39) |
T48S |
possibly damaging |
Het |
| Ift172 |
G |
T |
5: 31,440,425 (GRCm39) |
Y287* |
probably null |
Het |
| Il27ra |
T |
C |
8: 84,760,614 (GRCm39) |
I450M |
probably damaging |
Het |
| Krtap31-2 |
T |
A |
11: 99,827,377 (GRCm39) |
C70S |
possibly damaging |
Het |
| Lipo4 |
T |
A |
19: 33,478,964 (GRCm39) |
H292L |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,915,154 (GRCm39) |
F3283L |
probably damaging |
Het |
| Mctp1 |
T |
G |
13: 76,975,876 (GRCm39) |
C750G |
probably damaging |
Het |
| Msantd5 |
C |
T |
11: 51,125,665 (GRCm39) |
S196L |
probably damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,004,776 (GRCm39) |
D600G |
possibly damaging |
Het |
| Mylk |
C |
T |
16: 34,784,018 (GRCm39) |
Q1395* |
probably null |
Het |
| Nap1l5 |
T |
A |
6: 58,883,873 (GRCm39) |
D27V |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,461,512 (GRCm39) |
D75G |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,744,503 (GRCm39) |
M793L |
probably benign |
Het |
| Or13m2-ps1 |
T |
A |
6: 42,778,426 (GRCm39) |
C250* |
probably null |
Het |
| Or52ab4 |
G |
T |
7: 102,987,537 (GRCm39) |
C92F |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,250 (GRCm39) |
S109P |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,799 (GRCm39) |
M285T |
probably benign |
Het |
| Or8g37 |
C |
T |
9: 39,731,310 (GRCm39) |
A125V |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,478,146 (GRCm39) |
R207Q |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,945,238 (GRCm39) |
T54A |
probably benign |
Het |
| Pno1 |
C |
A |
11: 17,161,443 (GRCm39) |
R22L |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Rapgef6 |
C |
G |
11: 54,517,549 (GRCm39) |
H414D |
probably damaging |
Het |
| Rpa1 |
CA |
C |
11: 75,198,050 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
T |
C |
5: 107,754,777 (GRCm39) |
C136R |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,559,251 (GRCm39) |
E863K |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,757,257 (GRCm39) |
I366N |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,373,456 (GRCm39) |
I508V |
probably benign |
Het |
| Sec14l3 |
A |
G |
11: 4,024,795 (GRCm39) |
D248G |
probably damaging |
Het |
| Six6 |
A |
T |
12: 72,987,317 (GRCm39) |
Q163L |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 96,990,192 (GRCm39) |
V683A |
possibly damaging |
Het |
| Smc1b |
A |
G |
15: 84,950,529 (GRCm39) |
V1165A |
probably damaging |
Het |
| Tdrp |
A |
T |
8: 14,005,727 (GRCm39) |
S65T |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,555,663 (GRCm39) |
Y785F |
probably damaging |
Het |
| Themis2 |
T |
G |
4: 132,516,954 (GRCm39) |
Q182P |
probably damaging |
Het |
| Tmem86b |
G |
T |
7: 4,631,404 (GRCm39) |
S216* |
probably null |
Het |
| Ttyh2 |
T |
A |
11: 114,577,272 (GRCm39) |
I61N |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,802 (GRCm39) |
T397S |
probably benign |
Het |
| Zfp141 |
C |
T |
7: 42,125,903 (GRCm39) |
D190N |
probably damaging |
Het |
| Zfp58 |
T |
C |
13: 67,640,114 (GRCm39) |
R126G |
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 |
|
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 |
|
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'- CCAGGATAGTGTGTAGCTTGATAAC -3'
(R):5'- GGCATCAGACTCTACAACTGG -3'
Sequencing Primer
(F):5'- TGTCAAGTCAGTGTTTATGAGAAC -3'
(R):5'- GCATCAGACTCTACAACTGGGATAAG -3'
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| Posted On |
2019-12-20 |
Incidental Mutation