Incidental Mutation 'R7290:Muc21'
| ID |
566368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc21
|
| Ensembl Gene |
ENSMUSG00000090588 |
| Gene Name |
mucin 21 |
| Synonyms |
epiglycanin, Gm9573 |
| MMRRC Submission |
045362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R7290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35928815-35937529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35929761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1475
(A1475V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164502]
[ENSMUST00000174521]
|
| AlphaFold |
F7C950 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000164502
AA Change: A1475V
|
| SMART Domains |
Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: A1475V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
1179 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1373 |
N/A |
INTRINSIC |
|
low complexity region
|
1383 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1438 |
1479 |
N/A |
INTRINSIC |
|
Pfam:Epiglycanin_C
|
1518 |
1605 |
3.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174521
|
| SMART Domains |
Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SFTA2
|
80 |
117 |
9.2e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,921,714 (GRCm39) |
M1447L |
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,070,257 (GRCm39) |
V697I |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,277,452 (GRCm39) |
N689D |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,813,906 (GRCm39) |
K753R |
probably benign |
Het |
| Adra2a |
T |
C |
19: 54,034,835 (GRCm39) |
F64L |
probably damaging |
Het |
| Ankub1 |
A |
G |
3: 57,580,345 (GRCm39) |
L104P |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,988,719 (GRCm39) |
V10A |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,962,047 (GRCm39) |
N1165K |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,880,060 (GRCm39) |
D279V |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,099 (GRCm38) |
D310E |
probably damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,615 (GRCm39) |
I249V |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,212,620 (GRCm39) |
N1598S |
probably benign |
Het |
| Cep250 |
A |
T |
2: 155,834,682 (GRCm39) |
Q2202H |
probably benign |
Het |
| Ces5a |
T |
A |
8: 94,261,311 (GRCm39) |
T35S |
probably damaging |
Het |
| Cnot11 |
G |
A |
1: 39,579,020 (GRCm39) |
W295* |
probably null |
Het |
| Cntnap5a |
G |
T |
1: 116,149,619 (GRCm39) |
W565L |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,569,468 (GRCm39) |
E148G |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,455,739 (GRCm39) |
D955N |
probably benign |
Het |
| Erbin |
G |
A |
13: 103,998,834 (GRCm39) |
T184I |
probably damaging |
Het |
| Fam20c |
G |
T |
5: 138,793,309 (GRCm39) |
G477W |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fgfr4 |
T |
C |
13: 55,309,262 (GRCm39) |
V433A |
probably benign |
Het |
| Gal3st1 |
A |
T |
11: 3,948,093 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Gfra2 |
T |
C |
14: 71,163,380 (GRCm39) |
F221S |
probably damaging |
Het |
| Gm19965 |
G |
A |
1: 116,748,921 (GRCm39) |
V201M |
|
Het |
| Gnb1l |
A |
T |
16: 18,382,806 (GRCm39) |
T282S |
probably benign |
Het |
| Gpr171 |
A |
T |
3: 59,005,147 (GRCm39) |
N209K |
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,761,739 (GRCm39) |
T547I |
probably damaging |
Het |
| Ifi214 |
A |
T |
1: 173,357,097 (GRCm39) |
V2E |
probably benign |
Het |
| Ighv1-71 |
T |
C |
12: 115,706,267 (GRCm39) |
M1V |
probably null |
Het |
| Itm2b |
C |
T |
14: 73,605,785 (GRCm39) |
G67D |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,851,432 (GRCm39) |
C995* |
probably null |
Het |
| Kifc2 |
A |
T |
15: 76,544,904 (GRCm39) |
Y13F |
probably damaging |
Het |
| Lamb1 |
T |
A |
12: 31,315,595 (GRCm39) |
V59D |
probably benign |
Het |
| Lhx1 |
A |
T |
11: 84,412,703 (GRCm39) |
D163E |
probably damaging |
Het |
| Lrrc1 |
A |
T |
9: 77,365,121 (GRCm39) |
Y187N |
probably benign |
Het |
| Map3k1 |
C |
A |
13: 111,904,645 (GRCm39) |
V380F |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,028,511 (GRCm39) |
D283G |
probably damaging |
Het |
| Mccc2 |
G |
T |
13: 100,091,207 (GRCm39) |
A430D |
probably damaging |
Het |
| Mest |
A |
G |
6: 30,747,158 (GRCm39) |
N340S |
unknown |
Het |
| Mms22l |
T |
C |
4: 24,517,139 (GRCm39) |
L340P |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,087,808 (GRCm39) |
Y110C |
possibly damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,502,063 (GRCm39) |
T706A |
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,900,373 (GRCm39) |
F234S |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,202,777 (GRCm39) |
|
probably null |
Het |
| Nup37 |
T |
G |
10: 88,010,356 (GRCm39) |
C217G |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,694 (GRCm39) |
L7P |
unknown |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,206 (GRCm39) |
N820S |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,587,225 (GRCm39) |
F117Y |
possibly damaging |
Het |
| Phip |
A |
T |
9: 82,753,346 (GRCm39) |
F1799L |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,728,819 (GRCm39) |
F74I |
probably benign |
Het |
| Prpf8 |
C |
A |
11: 75,384,783 (GRCm39) |
N775K |
possibly damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,731,693 (GRCm39) |
I167T |
possibly damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,501,892 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
C |
A |
8: 91,841,669 (GRCm39) |
A955D |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,420,146 (GRCm39) |
S366P |
possibly damaging |
Het |
| Rit2 |
A |
T |
18: 31,376,221 (GRCm39) |
M38K |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,801,408 (GRCm39) |
M1011V |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,043,797 (GRCm39) |
E809D |
probably benign |
Het |
| Stard3 |
G |
A |
11: 98,269,045 (GRCm39) |
|
probably null |
Het |
| Taar3 |
T |
G |
10: 23,826,298 (GRCm39) |
Y281* |
probably null |
Het |
| Tacc2 |
G |
T |
7: 130,331,103 (GRCm39) |
K352N |
probably benign |
Het |
| Tamalin |
G |
A |
15: 101,129,419 (GRCm39) |
S234N |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,160,610 (GRCm39) |
I124N |
probably damaging |
Het |
| Tdpoz4 |
G |
A |
3: 93,704,155 (GRCm39) |
V151I |
not run |
Het |
| Tenm2 |
A |
G |
11: 35,914,298 (GRCm39) |
L2413P |
probably damaging |
Het |
| Tgm6 |
T |
C |
2: 129,983,110 (GRCm39) |
V233A |
probably damaging |
Het |
| Tlx3 |
G |
A |
11: 33,153,514 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Trim23 |
C |
A |
13: 104,323,941 (GRCm39) |
H133Q |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,640,356 (GRCm39) |
D1421V |
probably damaging |
Het |
| Vmn1r172 |
A |
G |
7: 23,360,048 (GRCm39) |
N311S |
unknown |
Het |
| Vps25 |
T |
A |
11: 101,149,775 (GRCm39) |
L153Q |
probably damaging |
Het |
| Wbp1l |
G |
T |
19: 46,611,876 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,970,558 (GRCm39) |
I291V |
possibly damaging |
Het |
| Zfp2 |
A |
G |
11: 50,791,570 (GRCm39) |
C158R |
probably damaging |
Het |
| Zfp786 |
G |
A |
6: 47,796,929 (GRCm39) |
P670S |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,442 (GRCm39) |
R339H |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 127,017,294 (GRCm39) |
A1025V |
possibly damaging |
Het |
|
| Other mutations in Muc21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB009:Muc21
|
UTSW |
17 |
35,933,525 (GRCm39) |
intron |
probably benign |
|
|
FR4304:Muc21
|
UTSW |
17 |
35,933,013 (GRCm39) |
intron |
probably benign |
|
|
R0334:Muc21
|
UTSW |
17 |
35,933,614 (GRCm39) |
intron |
probably benign |
|
|
R0946:Muc21
|
UTSW |
17 |
35,929,105 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1117:Muc21
|
UTSW |
17 |
35,930,920 (GRCm39) |
intron |
probably benign |
|
|
R1345:Muc21
|
UTSW |
17 |
35,932,489 (GRCm39) |
intron |
probably benign |
|
|
R1697:Muc21
|
UTSW |
17 |
35,931,540 (GRCm39) |
intron |
probably benign |
|
|
R1750:Muc21
|
UTSW |
17 |
35,931,940 (GRCm39) |
intron |
probably benign |
|
|
R1756:Muc21
|
UTSW |
17 |
35,930,131 (GRCm39) |
intron |
probably benign |
|
|
R1946:Muc21
|
UTSW |
17 |
35,933,416 (GRCm39) |
intron |
probably benign |
|
|
R1978:Muc21
|
UTSW |
17 |
35,933,857 (GRCm39) |
intron |
probably benign |
|
|
R1991:Muc21
|
UTSW |
17 |
35,929,600 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1992:Muc21
|
UTSW |
17 |
35,929,600 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2063:Muc21
|
UTSW |
17 |
35,932,297 (GRCm39) |
intron |
probably benign |
|
|
R2356:Muc21
|
UTSW |
17 |
35,932,563 (GRCm39) |
intron |
probably benign |
|
|
R2866:Muc21
|
UTSW |
17 |
35,930,599 (GRCm39) |
intron |
probably benign |
|
|
R3826:Muc21
|
UTSW |
17 |
35,932,504 (GRCm39) |
intron |
probably benign |
|
|
R4020:Muc21
|
UTSW |
17 |
35,930,953 (GRCm39) |
intron |
probably benign |
|
|
R4474:Muc21
|
UTSW |
17 |
35,931,496 (GRCm39) |
intron |
probably benign |
|
|
R4677:Muc21
|
UTSW |
17 |
35,930,599 (GRCm39) |
intron |
probably benign |
|
|
R4786:Muc21
|
UTSW |
17 |
35,930,221 (GRCm39) |
intron |
probably benign |
|
|
R5071:Muc21
|
UTSW |
17 |
35,931,444 (GRCm39) |
intron |
probably benign |
|
|
R5173:Muc21
|
UTSW |
17 |
35,931,633 (GRCm39) |
intron |
probably benign |
|
|
R5283:Muc21
|
UTSW |
17 |
35,932,224 (GRCm39) |
intron |
probably benign |
|
|
R5446:Muc21
|
UTSW |
17 |
35,933,395 (GRCm39) |
intron |
probably benign |
|
|
R5542:Muc21
|
UTSW |
17 |
35,933,395 (GRCm39) |
intron |
probably benign |
|
|
R5716:Muc21
|
UTSW |
17 |
35,931,675 (GRCm39) |
intron |
probably benign |
|
|
R5913:Muc21
|
UTSW |
17 |
35,934,123 (GRCm39) |
intron |
probably benign |
|
|
R6011:Muc21
|
UTSW |
17 |
35,933,074 (GRCm39) |
intron |
probably benign |
|
|
R6198:Muc21
|
UTSW |
17 |
35,931,808 (GRCm39) |
intron |
probably benign |
|
|
R6394:Muc21
|
UTSW |
17 |
35,931,058 (GRCm39) |
intron |
probably benign |
|
|
R6786:Muc21
|
UTSW |
17 |
35,934,057 (GRCm39) |
intron |
probably benign |
|
|
R6940:Muc21
|
UTSW |
17 |
35,934,118 (GRCm39) |
intron |
probably benign |
|
|
R7082:Muc21
|
UTSW |
17 |
35,932,093 (GRCm39) |
missense |
unknown |
|
|
R7103:Muc21
|
UTSW |
17 |
35,932,432 (GRCm39) |
missense |
unknown |
|
|
R7110:Muc21
|
UTSW |
17 |
35,933,510 (GRCm39) |
intron |
probably benign |
|
|
R7139:Muc21
|
UTSW |
17 |
35,933,525 (GRCm39) |
intron |
probably benign |
|
|
R7165:Muc21
|
UTSW |
17 |
35,932,870 (GRCm39) |
missense |
unknown |
|
|
R7200:Muc21
|
UTSW |
17 |
35,933,525 (GRCm39) |
intron |
probably benign |
|
|
R7204:Muc21
|
UTSW |
17 |
35,932,105 (GRCm39) |
intron |
probably benign |
|
|
R7289:Muc21
|
UTSW |
17 |
35,929,761 (GRCm39) |
missense |
unknown |
|
|
R7295:Muc21
|
UTSW |
17 |
35,929,761 (GRCm39) |
missense |
unknown |
|
|
R7319:Muc21
|
UTSW |
17 |
35,932,935 (GRCm39) |
intron |
probably benign |
|
|
R7462:Muc21
|
UTSW |
17 |
35,931,568 (GRCm39) |
missense |
unknown |
|
|
R7529:Muc21
|
UTSW |
17 |
35,930,123 (GRCm39) |
missense |
unknown |
|
|
R7718:Muc21
|
UTSW |
17 |
35,933,728 (GRCm39) |
missense |
unknown |
|
|
R7762:Muc21
|
UTSW |
17 |
35,932,977 (GRCm39) |
missense |
unknown |
|
|
R7788:Muc21
|
UTSW |
17 |
35,929,798 (GRCm39) |
missense |
unknown |
|
|
R7798:Muc21
|
UTSW |
17 |
35,932,146 (GRCm39) |
missense |
unknown |
|
|
R7831:Muc21
|
UTSW |
17 |
35,929,651 (GRCm39) |
missense |
unknown |
|
|
R7896:Muc21
|
UTSW |
17 |
35,930,917 (GRCm39) |
missense |
unknown |
|
|
R7899:Muc21
|
UTSW |
17 |
35,931,493 (GRCm39) |
intron |
probably benign |
|
|
R7932:Muc21
|
UTSW |
17 |
35,933,525 (GRCm39) |
intron |
probably benign |
|
|
R8025:Muc21
|
UTSW |
17 |
35,931,879 (GRCm39) |
intron |
probably benign |
|
|
R8077:Muc21
|
UTSW |
17 |
35,930,628 (GRCm39) |
intron |
probably benign |
|
|
R8090:Muc21
|
UTSW |
17 |
35,932,617 (GRCm39) |
missense |
unknown |
|
|
R8169:Muc21
|
UTSW |
17 |
35,932,072 (GRCm39) |
missense |
unknown |
|
|
R8184:Muc21
|
UTSW |
17 |
35,933,722 (GRCm39) |
missense |
unknown |
|
|
R8209:Muc21
|
UTSW |
17 |
35,930,599 (GRCm39) |
intron |
probably benign |
|
|
R8226:Muc21
|
UTSW |
17 |
35,930,599 (GRCm39) |
intron |
probably benign |
|
|
R8464:Muc21
|
UTSW |
17 |
35,933,098 (GRCm39) |
intron |
probably benign |
|
|
R8670:Muc21
|
UTSW |
17 |
35,932,540 (GRCm39) |
missense |
unknown |
|
|
R8783:Muc21
|
UTSW |
17 |
35,930,875 (GRCm39) |
missense |
unknown |
|
|
R8856:Muc21
|
UTSW |
17 |
35,931,865 (GRCm39) |
missense |
unknown |
|
|
R9155:Muc21
|
UTSW |
17 |
35,932,131 (GRCm39) |
missense |
unknown |
|
|
R9214:Muc21
|
UTSW |
17 |
35,931,838 (GRCm39) |
missense |
unknown |
|
|
R9353:Muc21
|
UTSW |
17 |
35,930,545 (GRCm39) |
missense |
unknown |
|
|
R9618:Muc21
|
UTSW |
17 |
35,932,935 (GRCm39) |
intron |
probably benign |
|
|
R9621:Muc21
|
UTSW |
17 |
35,932,720 (GRCm39) |
missense |
unknown |
|
|
R9679:Muc21
|
UTSW |
17 |
35,930,491 (GRCm39) |
missense |
unknown |
|
|
RF025:Muc21
|
UTSW |
17 |
35,933,771 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Muc21
|
UTSW |
17 |
35,932,137 (GRCm39) |
missense |
unknown |
|
|
Z1177:Muc21
|
UTSW |
17 |
35,931,951 (GRCm39) |
missense |
unknown |
|
|
Z1177:Muc21
|
UTSW |
17 |
35,931,817 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACCACGATAACAGAGGC -3'
(R):5'- AAGACCTCTGCATCTTCACTCAG -3'
Sequencing Primer
(F):5'- AAGATTTCCCAGGGCTTCAG -3'
(R):5'- GCTTGACCTCCACTATGACCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation