Incidental Mutation 'R0684:Smgc'
| ID |
218636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smgc
|
| Ensembl Gene |
ENSMUSG00000047295 |
| Gene Name |
submandibular gland protein C |
| Synonyms |
Sfc21, DXImx49e, 2310010P21Rik |
| MMRRC Submission |
038869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0684 (G1)
|
| Quality Score |
49 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91722531-91745633 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 91725670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088555]
[ENSMUST00000100293]
[ENSMUST00000109276]
[ENSMUST00000109277]
[ENSMUST00000126508]
[ENSMUST00000130014]
|
| AlphaFold |
Q6JHY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088555
|
| SMART Domains |
Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
| 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: 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
|
| 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 |
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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.1%
- 20x: 88.8%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,466,428 (GRCm39) |
L731H |
probably damaging |
Het |
| Adora2b |
C |
T |
11: 62,139,995 (GRCm39) |
A23V |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,411,857 (GRCm39) |
I1336V |
probably damaging |
Het |
| Asxl1 |
G |
A |
2: 153,239,442 (GRCm39) |
R410H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,260,593 (GRCm39) |
E419G |
probably benign |
Het |
| Atxn1l |
A |
T |
8: 110,459,016 (GRCm39) |
N415K |
probably damaging |
Het |
| Bcl2l12 |
T |
A |
7: 44,646,025 (GRCm39) |
T65S |
probably benign |
Het |
| Bdh2 |
A |
G |
3: 134,996,774 (GRCm39) |
I90V |
probably benign |
Het |
| Bsph1 |
T |
A |
7: 13,206,988 (GRCm39) |
N121K |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,938,153 (GRCm39) |
Y104C |
possibly damaging |
Het |
| Chdh |
T |
C |
14: 29,753,570 (GRCm39) |
W160R |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,393,365 (GRCm39) |
F193L |
probably damaging |
Het |
| Copz1 |
A |
G |
15: 103,204,958 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
T |
C |
19: 39,379,500 (GRCm39) |
T450A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,751 (GRCm39) |
I253K |
probably benign |
Het |
| Dhrs13 |
G |
T |
11: 77,927,789 (GRCm39) |
A212S |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,987,796 (GRCm39) |
N81S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Emid1 |
T |
C |
11: 5,093,866 (GRCm39) |
R92G |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,941 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,432,893 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
T |
C |
13: 64,236,882 (GRCm39) |
M21V |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,718,849 (GRCm39) |
V1176A |
probably benign |
Het |
| Midn |
A |
G |
10: 79,992,336 (GRCm39) |
K463E |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 102,996,631 (GRCm39) |
E103G |
probably damaging |
Het |
| Muc15 |
A |
G |
2: 110,564,160 (GRCm39) |
N232S |
possibly damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,294,875 (GRCm39) |
E15V |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,635,889 (GRCm39) |
N176Y |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,735 (GRCm39) |
K229R |
probably benign |
Het |
| Or52n2b |
T |
A |
7: 104,565,841 (GRCm39) |
T221S |
probably benign |
Het |
| Pate14 |
C |
T |
9: 36,549,176 (GRCm39) |
G28E |
probably benign |
Het |
| Pigf |
A |
T |
17: 87,327,923 (GRCm39) |
F115I |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,362,317 (GRCm39) |
V355E |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,359,294 (GRCm39) |
|
probably benign |
Het |
| Rae1 |
G |
A |
2: 172,846,957 (GRCm39) |
R67H |
probably damaging |
Het |
| Sema3a |
G |
A |
5: 13,606,494 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,126,758 (GRCm39) |
T104A |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,593,168 (GRCm39) |
L137* |
probably null |
Het |
| Syce3 |
A |
G |
15: 89,274,648 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
T |
A |
7: 107,024,343 (GRCm39) |
W79R |
probably damaging |
Het |
| Tgoln1 |
A |
C |
6: 72,592,974 (GRCm39) |
S169A |
probably benign |
Het |
| Thnsl1 |
A |
G |
2: 21,216,477 (GRCm39) |
D77G |
probably benign |
Het |
| Tsr1 |
T |
A |
11: 74,798,767 (GRCm39) |
V712E |
probably damaging |
Het |
| Wdr12 |
C |
T |
1: 60,128,525 (GRCm39) |
|
probably benign |
Het |
| Xdh |
T |
A |
17: 74,250,886 (GRCm39) |
N22I |
probably damaging |
Het |
| Zfp3 |
T |
A |
11: 70,662,395 (GRCm39) |
L118Q |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,687,623 (GRCm39) |
N883D |
probably benign |
Het |
| Zfp609 |
T |
A |
9: 65,638,483 (GRCm39) |
M250L |
probably benign |
Het |
| Zfp94 |
A |
T |
7: 24,002,495 (GRCm39) |
S316T |
probably damaging |
Het |
| Zfp955b |
A |
G |
17: 33,521,947 (GRCm39) |
N472S |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGTCACTAGACCAAGATGGAGG -3'
(R):5'- CTACAAATCAGCAGTTCCCATTGCAAG -3'
Sequencing Primer
(F):5'- TCACTAGACCAAGATGGAGGTTATTG -3'
(R):5'- CTCTGGTGATTCATTGCTCATGTC -3'
|
| Posted On |
2014-08-18 |
Incidental Mutation