Incidental Mutation 'R7529:Muc21'
| ID |
583234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc21
|
| Ensembl Gene |
ENSMUSG00000090588 |
| Gene Name |
mucin 21 |
| Synonyms |
epiglycanin, Gm9573 |
| MMRRC Submission |
045601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R7529 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35928815-35937529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35930123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1354
(S1354R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164502]
[ENSMUST00000174521]
|
| AlphaFold |
F7C950 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000164502
AA Change: S1354R
|
| SMART Domains |
Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: S1354R
| 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 |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
T |
A |
7: 127,836,336 (GRCm39) |
K86* |
probably null |
Het |
| Ablim3 |
A |
C |
18: 61,955,039 (GRCm39) |
S317A |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,089,157 (GRCm39) |
S524P |
probably damaging |
Het |
| Agps |
C |
A |
2: 75,662,696 (GRCm39) |
A47E |
possibly damaging |
Het |
| Arhgef15 |
G |
T |
11: 68,844,848 (GRCm39) |
R250S |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atoh8 |
G |
T |
6: 72,200,825 (GRCm39) |
D288E |
probably benign |
Het |
| B3galt2 |
A |
C |
1: 143,522,274 (GRCm39) |
K137Q |
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,247,727 (GRCm39) |
V343I |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,209,731 (GRCm39) |
N82S |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,669 (GRCm39) |
S2725P |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,965,769 (GRCm39) |
N414D |
probably damaging |
Het |
| Cgnl1 |
A |
C |
9: 71,539,040 (GRCm39) |
L1154R |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,233,942 (GRCm39) |
M382K |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,261,705 (GRCm39) |
V2658M |
possibly damaging |
Het |
| Dlgap5 |
T |
C |
14: 47,653,876 (GRCm39) |
N51S |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,940,692 (GRCm39) |
|
probably null |
Het |
| Dnal1 |
A |
G |
12: 84,178,117 (GRCm39) |
I35V |
probably benign |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,546 (GRCm39) |
F198S |
probably damaging |
Het |
| Edar |
A |
T |
10: 58,447,830 (GRCm39) |
S160T |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,674,072 (GRCm39) |
N409K |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,282,686 (GRCm39) |
C726* |
probably null |
Het |
| Extl2 |
G |
A |
3: 115,821,055 (GRCm39) |
V301I |
possibly damaging |
Het |
| G2e3 |
A |
G |
12: 51,418,387 (GRCm39) |
Q594R |
probably damaging |
Het |
| Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 131,335,218 (GRCm39) |
V74A |
probably damaging |
Het |
| Ggta1 |
A |
G |
2: 35,304,256 (GRCm39) |
W76R |
probably damaging |
Het |
| Gm9772 |
T |
A |
17: 22,226,140 (GRCm39) |
D48V |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,020,193 (GRCm39) |
T388A |
probably damaging |
Het |
| Ighv5-9-1 |
A |
G |
12: 113,699,954 (GRCm39) |
S53P |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,467,720 (GRCm39) |
M16L |
possibly damaging |
Het |
| Ints1 |
G |
A |
5: 139,753,481 (GRCm39) |
A717V |
possibly damaging |
Het |
| Itpr2 |
A |
T |
6: 146,096,096 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Klrg2 |
A |
T |
6: 38,607,266 (GRCm39) |
V248E |
probably damaging |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,429 (GRCm39) |
C74R |
unknown |
Het |
| Luzp1 |
G |
T |
4: 136,268,243 (GRCm39) |
L155F |
probably damaging |
Het |
| Mcam |
T |
C |
9: 44,050,192 (GRCm39) |
V209A |
probably benign |
Het |
| Med1 |
G |
C |
11: 98,046,791 (GRCm39) |
T1335R |
unknown |
Het |
| Mroh2b |
A |
G |
15: 4,978,491 (GRCm39) |
I1346V |
probably damaging |
Het |
| Mrpl4 |
C |
G |
9: 20,918,975 (GRCm39) |
Q201E |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,757,624 (GRCm39) |
L326P |
probably damaging |
Het |
| Myot |
A |
T |
18: 44,479,240 (GRCm39) |
R326* |
probably null |
Het |
| Nox3 |
T |
A |
17: 3,722,050 (GRCm39) |
R288S |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,044,976 (GRCm39) |
Y572F |
unknown |
Het |
| Or2v2 |
A |
G |
11: 49,003,686 (GRCm39) |
L289P |
probably damaging |
Het |
| Or5an10 |
A |
G |
19: 12,276,086 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb15 |
G |
T |
18: 37,607,526 (GRCm39) |
E253* |
probably null |
Het |
| Plcb2 |
T |
C |
2: 118,540,715 (GRCm39) |
H1052R |
probably damaging |
Het |
| Plpp5 |
A |
T |
8: 26,214,233 (GRCm39) |
Q250L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,326,179 (GRCm39) |
Y38H |
probably benign |
Het |
| Pnpla8 |
A |
G |
12: 44,329,963 (GRCm39) |
K172E |
probably benign |
Het |
| Pramel23 |
T |
C |
4: 143,429,244 (GRCm39) |
|
|
Het |
| Prl8a9 |
T |
A |
13: 27,744,511 (GRCm39) |
D110V |
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,081,533 (GRCm39) |
|
probably null |
Het |
| Prss52 |
T |
A |
14: 64,347,037 (GRCm39) |
H70Q |
probably benign |
Het |
| Rcc1 |
T |
C |
4: 132,061,874 (GRCm39) |
T300A |
probably benign |
Het |
| Rnf114 |
T |
C |
2: 167,349,014 (GRCm39) |
V64A |
possibly damaging |
Het |
| Rnf168 |
T |
C |
16: 32,117,732 (GRCm39) |
I431T |
probably damaging |
Het |
| Rnmt |
A |
G |
18: 68,444,726 (GRCm39) |
M232V |
probably benign |
Het |
| Rrs1 |
A |
C |
1: 9,616,417 (GRCm39) |
Q223H |
probably benign |
Het |
| Scyl3 |
A |
T |
1: 163,771,438 (GRCm39) |
L261F |
probably damaging |
Het |
| Slc24a4 |
A |
T |
12: 102,230,707 (GRCm39) |
T533S |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,430 (GRCm39) |
L667P |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,278,275 (GRCm39) |
V260D |
possibly damaging |
Het |
| Snrpa |
A |
C |
7: 26,888,878 (GRCm39) |
M174R |
probably benign |
Het |
| Ss18l1 |
C |
T |
2: 179,699,950 (GRCm39) |
A270V |
possibly damaging |
Het |
| Stk19 |
G |
T |
17: 35,043,632 (GRCm39) |
Q193K |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,374,382 (GRCm39) |
I142L |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,727 (GRCm39) |
S675P |
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,652,289 (GRCm39) |
I731T |
probably damaging |
Het |
| Tg |
G |
T |
15: 66,566,617 (GRCm39) |
G1222W |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,816,922 (GRCm39) |
F1581L |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,149,728 (GRCm39) |
V520L |
probably benign |
Het |
| Wls |
A |
T |
3: 159,578,644 (GRCm39) |
N69Y |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,254,457 (GRCm39) |
F353L |
possibly damaging |
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp64 |
C |
T |
2: 168,735,992 (GRCm39) |
G562R |
probably benign |
Het |
| Zfp663 |
T |
G |
2: 165,194,728 (GRCm39) |
E497A |
probably damaging |
Het |
| Zfp995 |
A |
T |
17: 22,099,333 (GRCm39) |
C300* |
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 |
|
|
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 |
|
|
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'- GGTCATAGTGGAGGTCAAGC -3'
(R):5'- ATTGCCTCAGGTACTACCCC -3'
Sequencing Primer
(F):5'- ATGCAGAGGTCTTGCTGAGCC -3'
(R):5'- TCAGGTACTACCCCCACCCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation