Incidental Mutation 'R7295:Muc21'
ID |
566700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc21
|
Ensembl Gene |
ENSMUSG00000090588 |
Gene Name |
mucin 21 |
Synonyms |
epiglycanin, Gm9573 |
MMRRC Submission |
045363-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R7295 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
Acp7 |
A |
T |
7: 28,328,955 (GRCm39) |
F75Y |
possibly damaging |
Het |
Adamts19 |
T |
A |
18: 58,970,955 (GRCm39) |
Y180N |
probably damaging |
Het |
Adck1 |
G |
T |
12: 88,397,815 (GRCm39) |
D150Y |
probably damaging |
Het |
Alb |
T |
A |
5: 90,610,693 (GRCm39) |
|
probably null |
Het |
Baat |
A |
T |
4: 49,490,275 (GRCm39) |
Y270N |
probably damaging |
Het |
Bmp7 |
A |
T |
2: 172,781,690 (GRCm39) |
I58N |
probably damaging |
Het |
Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
Cbfa2t3 |
T |
G |
8: 123,364,768 (GRCm39) |
D338A |
probably benign |
Het |
Ccnd2 |
A |
T |
6: 127,125,725 (GRCm39) |
C104S |
possibly damaging |
Het |
Clip1 |
G |
T |
5: 123,765,419 (GRCm39) |
Q713K |
probably benign |
Het |
Ddx28 |
G |
A |
8: 106,737,476 (GRCm39) |
S194L |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,631,183 (GRCm39) |
|
probably null |
Het |
Edil3 |
T |
A |
13: 89,279,902 (GRCm39) |
Y193* |
probably null |
Het |
Eprs1 |
A |
G |
1: 185,150,407 (GRCm39) |
|
probably null |
Het |
Ercc6l2 |
T |
G |
13: 63,967,589 (GRCm39) |
I63R |
probably damaging |
Het |
Fam171a2 |
T |
C |
11: 102,329,064 (GRCm39) |
E565G |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,177,407 (GRCm39) |
D1810V |
probably damaging |
Het |
Foxj2 |
T |
C |
6: 122,817,190 (GRCm39) |
S506P |
probably benign |
Het |
Frmpd1 |
A |
G |
4: 45,285,700 (GRCm39) |
E1507G |
probably damaging |
Het |
Gfm1 |
G |
A |
3: 67,347,514 (GRCm39) |
V258I |
probably benign |
Het |
Gphn |
T |
C |
12: 78,538,876 (GRCm39) |
V174A |
probably benign |
Het |
Gtpbp3 |
C |
A |
8: 71,942,139 (GRCm39) |
S123R |
possibly damaging |
Het |
H2bc8 |
T |
C |
13: 23,755,943 (GRCm39) |
S113P |
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,186,051 (GRCm39) |
V491A |
probably benign |
Het |
Hoxc12 |
A |
G |
15: 102,846,810 (GRCm39) |
N234S |
probably damaging |
Het |
Il22b |
A |
T |
10: 118,130,848 (GRCm39) |
L16* |
probably null |
Het |
Kcnj5 |
T |
C |
9: 32,234,087 (GRCm39) |
D76G |
probably damaging |
Het |
Klhl11 |
A |
G |
11: 100,363,068 (GRCm39) |
Y163H |
probably damaging |
Het |
Lonp1 |
G |
T |
17: 56,929,495 (GRCm39) |
Q181K |
possibly damaging |
Het |
Mgst1 |
A |
T |
6: 138,124,754 (GRCm39) |
I23F |
probably benign |
Het |
Myocos |
T |
C |
1: 162,484,687 (GRCm39) |
R41G |
unknown |
Het |
Myod1 |
A |
G |
7: 46,027,643 (GRCm39) |
D261G |
probably benign |
Het |
Nop14 |
C |
T |
5: 34,796,376 (GRCm39) |
R781Q |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,438,083 (GRCm39) |
V63A |
probably benign |
Het |
Ntsr1 |
A |
T |
2: 180,142,725 (GRCm39) |
H172L |
probably damaging |
Het |
Or4k6 |
T |
C |
14: 50,476,073 (GRCm39) |
K90E |
probably damaging |
Het |
Or8b1c |
A |
T |
9: 38,384,739 (GRCm39) |
E232V |
probably benign |
Het |
Pcdha11 |
T |
C |
18: 37,139,979 (GRCm39) |
V536A |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,101,189 (GRCm39) |
N127K |
probably damaging |
Het |
Prps1l1 |
T |
A |
12: 35,035,679 (GRCm39) |
C265S |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,097,261 (GRCm39) |
S922G |
probably benign |
Het |
Qpctl |
A |
T |
7: 18,883,055 (GRCm39) |
M19K |
probably benign |
Het |
Rad51 |
C |
T |
2: 118,964,599 (GRCm39) |
T230I |
possibly damaging |
Het |
Rad9b |
A |
G |
5: 122,472,341 (GRCm39) |
F246L |
possibly damaging |
Het |
Rarb |
A |
T |
14: 16,508,932 (GRCm38) |
|
probably null |
Het |
Sdcbp2 |
T |
C |
2: 151,429,321 (GRCm39) |
S214P |
possibly damaging |
Het |
Slc22a1 |
T |
A |
17: 12,875,892 (GRCm39) |
M441L |
probably benign |
Het |
Slc35f1 |
G |
A |
10: 52,938,637 (GRCm39) |
V190I |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,629,475 (GRCm39) |
Q373L |
possibly damaging |
Het |
Ssbp2 |
T |
A |
13: 91,842,122 (GRCm39) |
|
probably null |
Het |
Sult1e1 |
T |
A |
5: 87,726,512 (GRCm39) |
R201* |
probably null |
Het |
Traj32 |
T |
A |
14: 54,423,606 (GRCm39) |
L16Q |
|
Het |
Ttc16 |
T |
C |
2: 32,664,437 (GRCm39) |
I67V |
probably null |
Het |
Ttn |
T |
A |
2: 76,556,899 (GRCm39) |
K30035N |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,776,473 (GRCm39) |
Y1607F |
unknown |
Het |
Usp16 |
G |
A |
16: 87,268,977 (GRCm39) |
R290H |
probably benign |
Het |
Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
Xpnpep3 |
A |
G |
15: 81,298,735 (GRCm39) |
H56R |
probably damaging |
Het |
Zfp592 |
G |
T |
7: 80,674,070 (GRCm39) |
D345Y |
probably damaging |
Het |
Zfp931 |
A |
T |
2: 177,709,824 (GRCm39) |
Y187* |
probably null |
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 |
|
R7290: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'- CCACGATAACAGAGGCTAGG -3'
(R):5'- AGCAAGACCTCTGCATCTTCAC -3'
Sequencing Primer
(F):5'- AAGATTTCCCAGGGCTTCAG -3'
(R):5'- ACTCAGCTTGACCTCCACTATGAC -3'
|
Posted On |
2019-06-26 |