Incidental Mutation 'R4692:Smgc'
| ID |
354994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smgc
|
| Ensembl Gene |
ENSMUSG00000047295 |
| Gene Name |
submandibular gland protein C |
| Synonyms |
Sfc21, DXImx49e, 2310010P21Rik |
| MMRRC Submission |
041943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4692 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
91722531-91745633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91738764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 474
(V474A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088555]
[ENSMUST00000100293]
[ENSMUST00000109276]
[ENSMUST00000109277]
[ENSMUST00000130014]
|
| AlphaFold |
Q6JHY2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088555
AA Change: V474A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: V474A
| 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: 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 |
unknown
Transcript: ENSMUST00000132674
AA Change: V90A
|
| SMART Domains |
Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295
AA Change: V90A
| 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: V65A
|
| SMART Domains |
Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295
AA Change: V65A
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
| 9230104M06Rik |
A |
T |
12: 112,963,692 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,697,088 (GRCm39) |
D53G |
probably damaging |
Het |
| Arl2 |
T |
C |
19: 6,187,776 (GRCm39) |
T54A |
probably damaging |
Het |
| Baz2a |
G |
A |
10: 127,960,762 (GRCm39) |
G1521S |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,818 (GRCm39) |
S523P |
probably damaging |
Het |
| Car10 |
T |
C |
11: 93,075,984 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,922,140 (GRCm39) |
I66V |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,286,864 (GRCm39) |
V895E |
unknown |
Het |
| Coro1b |
T |
C |
19: 4,199,418 (GRCm39) |
Y26H |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,932,727 (GRCm39) |
E1017G |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,428,709 (GRCm39) |
S232P |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,126,728 (GRCm39) |
I473F |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,004,507 (GRCm39) |
I937N |
probably damaging |
Het |
| Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
| Igkv2-137 |
T |
C |
6: 67,532,971 (GRCm39) |
S45P |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,466,841 (GRCm39) |
|
probably null |
Het |
| Kif13b |
C |
A |
14: 65,041,024 (GRCm39) |
T1704K |
probably benign |
Het |
| Mapk7 |
A |
G |
11: 61,380,068 (GRCm39) |
S697P |
possibly damaging |
Het |
| Mrgpra1 |
T |
A |
7: 46,985,446 (GRCm39) |
I78F |
probably damaging |
Het |
| N6amt1 |
T |
C |
16: 87,153,854 (GRCm39) |
V97A |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,420 (GRCm39) |
T406A |
probably benign |
Het |
| Or4f61 |
A |
G |
2: 111,923,026 (GRCm39) |
S7P |
probably damaging |
Het |
| Or8c17 |
C |
T |
9: 38,179,826 (GRCm39) |
Q6* |
probably null |
Het |
| Paxip1 |
T |
C |
5: 27,977,095 (GRCm39) |
|
probably benign |
Het |
| Pfn4 |
A |
T |
12: 4,824,486 (GRCm39) |
Y71F |
probably damaging |
Het |
| Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Rbl2 |
T |
A |
8: 91,849,047 (GRCm39) |
D1084E |
probably damaging |
Het |
| Robo1 |
T |
G |
16: 72,757,090 (GRCm39) |
S350R |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,922,161 (GRCm39) |
V4A |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,806,888 (GRCm39) |
|
probably null |
Het |
| Snx13 |
A |
G |
12: 35,136,917 (GRCm39) |
D126G |
possibly damaging |
Het |
| Sox9 |
C |
A |
11: 112,673,803 (GRCm39) |
H131Q |
probably benign |
Het |
| Spag6 |
T |
C |
2: 18,704,054 (GRCm39) |
I34T |
probably benign |
Het |
| Speer2 |
T |
A |
16: 69,654,860 (GRCm39) |
T202S |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,459,621 (GRCm39) |
C3327S |
probably damaging |
Het |
| Vcpip1 |
G |
T |
1: 9,818,299 (GRCm39) |
A28E |
unknown |
Het |
| Vstm5 |
A |
T |
9: 15,168,718 (GRCm39) |
D94V |
probably damaging |
Het |
| Zfp329 |
T |
C |
7: 12,544,559 (GRCm39) |
K322E |
probably damaging |
Het |
| Zfp932 |
G |
A |
5: 110,157,052 (GRCm39) |
G250D |
probably damaging |
Het |
| Zscan26 |
A |
G |
13: 21,629,427 (GRCm39) |
C359R |
probably 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 |
|
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'- ATCTACATCCAGGGCCTTGG -3'
(R):5'- CCAGACTCTACAACTGGGATAAG -3'
Sequencing Primer
(F):5'- TACATCCAGGGCCTTGGTTCAAG -3'
(R):5'- CTCTACAACTGGGATAAGAAGCAAAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation