Incidental Mutation 'R4761:Smgc'
| ID |
356905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smgc
|
| Ensembl Gene |
ENSMUSG00000047295 |
| Gene Name |
submandibular gland protein C |
| Synonyms |
Sfc21, DXImx49e, 2310010P21Rik |
| MMRRC Submission |
042402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4761 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91722531-91745633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91729717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 178
(T178A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118530
(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: T224A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: T224A
| 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: T224A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: T224A
| 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 |
possibly damaging
Transcript: ENSMUST00000126508
AA Change: T180A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120826
Gene: ENSMUSG00000047295
AA Change: T180A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130014
AA Change: T178A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: T178A
| 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: ENSMUST00000136172
AA Change: T22A
|
| SMART Domains |
Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295
AA Change: T22A
| 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: ENSMUST00000143271
|
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
G |
9: 101,820,165 (GRCm39) |
D195G |
possibly damaging |
Het |
| Abcc8 |
G |
A |
7: 45,762,499 (GRCm39) |
R1221C |
probably damaging |
Het |
| Adra1a |
T |
A |
14: 66,964,880 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
A |
T |
13: 4,497,010 (GRCm39) |
M98L |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,753,916 (GRCm39) |
Q1632R |
probably damaging |
Het |
| Arhgap24 |
G |
T |
5: 102,812,080 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,308,504 (GRCm39) |
*40W |
probably null |
Het |
| Bdkrb2 |
A |
T |
12: 105,554,537 (GRCm39) |
M17L |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,581,158 (GRCm39) |
K117R |
possibly damaging |
Het |
| Cacng3 |
A |
T |
7: 122,367,887 (GRCm39) |
T256S |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,464,240 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
T |
A |
8: 105,563,193 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,564,592 (GRCm39) |
D1696V |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,264,860 (GRCm39) |
M296K |
possibly damaging |
Het |
| Ehbp1l1 |
G |
A |
19: 5,769,875 (GRCm39) |
P476L |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,849 (GRCm39) |
V858A |
possibly damaging |
Het |
| Ermp1 |
T |
A |
19: 29,623,656 (GRCm39) |
E55D |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,373,045 (GRCm39) |
L25F |
probably damaging |
Het |
| Foxn2 |
T |
A |
17: 88,770,136 (GRCm39) |
|
probably null |
Het |
| Gabrb3 |
A |
T |
7: 57,415,250 (GRCm39) |
T107S |
probably damaging |
Het |
| Gm26678 |
A |
T |
3: 54,540,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7897 |
G |
T |
1: 173,657,536 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9789 |
A |
T |
16: 88,954,915 (GRCm39) |
Y8F |
unknown |
Het |
| Gsta3 |
A |
T |
1: 21,330,381 (GRCm39) |
T78S |
probably benign |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,474 (GRCm39) |
N178D |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,639,885 (GRCm39) |
V1000I |
probably benign |
Het |
| Hrnr |
A |
C |
3: 93,230,062 (GRCm39) |
K100T |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,522,263 (GRCm39) |
F2L |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,756,981 (GRCm39) |
V232A |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,760,421 (GRCm39) |
R509L |
probably damaging |
Het |
| Lefty1 |
T |
A |
1: 180,765,190 (GRCm39) |
C253S |
probably benign |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Mfsd9 |
T |
C |
1: 40,813,635 (GRCm39) |
K227E |
possibly damaging |
Het |
| Mrps2 |
C |
G |
2: 28,359,946 (GRCm39) |
H268D |
probably benign |
Het |
| Mrps27 |
T |
A |
13: 99,548,739 (GRCm39) |
S292T |
probably benign |
Het |
| Ncaph |
T |
C |
2: 126,948,036 (GRCm39) |
D683G |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,781,514 (GRCm39) |
S632T |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,872 (GRCm39) |
T198A |
possibly damaging |
Het |
| Oasl2 |
C |
T |
5: 115,037,836 (GRCm39) |
H78Y |
probably benign |
Het |
| Or8b54 |
T |
C |
9: 38,687,133 (GRCm39) |
V194A |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
| Pdgfrb |
C |
A |
18: 61,212,772 (GRCm39) |
S892Y |
probably damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,286,172 (GRCm39) |
V210D |
probably damaging |
Het |
| Por |
T |
G |
5: 135,754,784 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5e |
A |
T |
12: 75,640,035 (GRCm39) |
V22D |
possibly damaging |
Het |
| Prcp |
A |
G |
7: 92,566,933 (GRCm39) |
|
probably null |
Het |
| Ptchd3 |
A |
T |
11: 121,727,224 (GRCm39) |
N366I |
possibly damaging |
Het |
| Rprd1b |
A |
G |
2: 157,889,890 (GRCm39) |
E4G |
probably damaging |
Het |
| Semp2l1 |
A |
T |
1: 32,585,588 (GRCm39) |
S107R |
possibly damaging |
Het |
| Serpinb6d |
C |
A |
13: 33,855,250 (GRCm39) |
S308Y |
probably damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,961,708 (GRCm39) |
V1026A |
probably benign |
Het |
| Slc17a7 |
G |
A |
7: 44,820,408 (GRCm39) |
V313I |
probably benign |
Het |
| Slc35c1 |
T |
A |
2: 92,289,168 (GRCm39) |
M113L |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,653,040 (GRCm39) |
W914R |
probably damaging |
Het |
| Srfbp1 |
C |
A |
18: 52,621,638 (GRCm39) |
P233Q |
probably damaging |
Het |
| Swt1 |
A |
C |
1: 151,276,853 (GRCm39) |
C508G |
probably benign |
Het |
| Tex22 |
T |
C |
12: 113,052,386 (GRCm39) |
V148A |
possibly damaging |
Het |
| Tle7 |
A |
T |
8: 110,836,753 (GRCm39) |
D213V |
probably damaging |
Het |
| Tpd52 |
G |
A |
3: 9,028,933 (GRCm39) |
P37L |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,796,230 (GRCm39) |
Y145C |
probably damaging |
Het |
| Vmn1r197 |
A |
T |
13: 22,512,174 (GRCm39) |
M32L |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,741,630 (GRCm39) |
F114S |
possibly damaging |
Het |
| Xdh |
T |
A |
17: 74,217,262 (GRCm39) |
I669F |
possibly damaging |
Het |
| Zfp940 |
G |
A |
7: 29,545,578 (GRCm39) |
R110C |
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 |
|
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 |
|
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'- AAAAGGCTGCGTCTTGTTTAG -3'
(R):5'- ATGACATATCAGTTGCCTTCCC -3'
Sequencing Primer
(F):5'- CCAAGTCAGTTTCTGTGAGAAC -3'
(R):5'- AGTTGCCTTCCCTTGTTCTGAAGAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation