Incidental Mutation 'R7718:Muc21'
| ID |
595072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc21
|
| Ensembl Gene |
ENSMUSG00000090588 |
| Gene Name |
mucin 21 |
| Synonyms |
epiglycanin, Gm9573 |
| MMRRC Submission |
045775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7718 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35928815-35937529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35933728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 153
(T153A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164502]
[ENSMUST00000174521]
|
| AlphaFold |
F7C950 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000164502
AA Change: T153A
|
| SMART Domains |
Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: T153A
| 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 |
0.1307 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
T |
5: 138,646,122 (GRCm39) |
H669L |
possibly damaging |
Het |
| Abcb1a |
A |
T |
5: 8,765,788 (GRCm39) |
N700I |
probably damaging |
Het |
| Abcc6 |
T |
C |
7: 45,626,816 (GRCm39) |
K1414E |
possibly damaging |
Het |
| Adcy5 |
T |
C |
16: 35,100,785 (GRCm39) |
V779A |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,915,734 (GRCm39) |
S82G |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,305 (GRCm39) |
N864S |
probably damaging |
Het |
| Ang2 |
A |
T |
14: 51,433,217 (GRCm39) |
V55E |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,758,662 (GRCm39) |
M179T |
possibly damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,728,615 (GRCm39) |
C1090* |
probably null |
Het |
| Atxn1l |
A |
G |
8: 110,459,866 (GRCm39) |
L132P |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,972,282 (GRCm39) |
V862A |
possibly damaging |
Het |
| Capn11 |
C |
A |
17: 45,954,707 (GRCm39) |
K143N |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,129,269 (GRCm39) |
V709A |
possibly damaging |
Het |
| Cavin4 |
C |
T |
4: 48,671,984 (GRCm39) |
A143V |
probably benign |
Het |
| Cntn5 |
A |
G |
9: 9,984,133 (GRCm39) |
I160T |
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,782 (GRCm39) |
N511Y |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,174,835 (GRCm39) |
I480N |
probably damaging |
Het |
| Elf2 |
G |
T |
3: 51,173,385 (GRCm39) |
|
probably benign |
Het |
| Enoph1 |
T |
C |
5: 100,210,019 (GRCm39) |
V133A |
possibly damaging |
Het |
| Ezh2 |
A |
T |
6: 47,531,125 (GRCm39) |
D186E |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,626 (GRCm39) |
F1106S |
probably damaging |
Het |
| Gfra1 |
T |
C |
19: 58,441,889 (GRCm39) |
D14G |
possibly damaging |
Het |
| Gmip |
C |
T |
8: 70,270,383 (GRCm39) |
R698W |
probably damaging |
Het |
| Grk4 |
A |
G |
5: 34,852,160 (GRCm39) |
N135D |
probably benign |
Het |
| Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
| Htatip2 |
T |
G |
7: 49,420,632 (GRCm39) |
H159Q |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,896,774 (GRCm39) |
E1264G |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,352,539 (GRCm39) |
S194P |
probably benign |
Het |
| Katnb1 |
T |
A |
8: 95,821,836 (GRCm39) |
V223E |
possibly damaging |
Het |
| Klra6 |
AGG |
AG |
6: 129,990,315 (GRCm39) |
|
probably null |
Het |
| Masp2 |
C |
T |
4: 148,687,204 (GRCm39) |
R29C |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,887,498 (GRCm39) |
C123* |
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,718,420 (GRCm39) |
V2225A |
probably damaging |
Het |
| Me1 |
A |
G |
9: 86,561,953 (GRCm39) |
L44S |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,583,577 (GRCm39) |
N380S |
probably benign |
Het |
| Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
| Myocd |
A |
T |
11: 65,109,452 (GRCm39) |
D106E |
probably damaging |
Het |
| Oat |
T |
C |
7: 132,159,988 (GRCm39) |
I411V |
probably benign |
Het |
| Or2d2 |
A |
T |
7: 106,727,925 (GRCm39) |
V225D |
probably damaging |
Het |
| Or5p59 |
T |
C |
7: 107,702,855 (GRCm39) |
V113A |
probably benign |
Het |
| Or8k38 |
A |
G |
2: 86,488,373 (GRCm39) |
V143A |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,519,476 (GRCm39) |
H246Q |
possibly damaging |
Het |
| Pank4 |
A |
G |
4: 155,059,100 (GRCm39) |
E411G |
probably damaging |
Het |
| Patl2 |
A |
T |
2: 121,957,255 (GRCm39) |
|
probably null |
Het |
| Pcdhb15 |
A |
G |
18: 37,608,216 (GRCm39) |
N483D |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,704 (GRCm39) |
D410G |
probably damaging |
Het |
| Pdcl2 |
A |
G |
5: 76,465,846 (GRCm39) |
C125R |
probably damaging |
Het |
| Peli3 |
C |
G |
19: 4,984,584 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,805,474 (GRCm39) |
D3313G |
probably benign |
Het |
| Plec |
A |
C |
15: 76,061,639 (GRCm39) |
M2766R |
probably damaging |
Het |
| Ppargc1a |
C |
T |
5: 51,655,504 (GRCm39) |
V99M |
probably damaging |
Het |
| Prr35 |
T |
A |
17: 26,165,998 (GRCm39) |
R430* |
probably null |
Het |
| Psg19 |
G |
A |
7: 18,526,368 (GRCm39) |
A374V |
probably benign |
Het |
| Psmd7 |
A |
T |
8: 108,313,261 (GRCm39) |
F54L |
possibly damaging |
Het |
| Ptbp2 |
C |
T |
3: 119,514,637 (GRCm39) |
G397R |
probably null |
Het |
| Ranbp3 |
A |
G |
17: 57,003,718 (GRCm39) |
D39G |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,786,021 (GRCm39) |
T406A |
probably benign |
Het |
| Rhbdl2 |
T |
A |
4: 123,718,712 (GRCm39) |
I222K |
probably damaging |
Het |
| Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
| Rpia |
A |
T |
6: 70,743,602 (GRCm39) |
M283K |
probably damaging |
Het |
| Rps6kc1 |
T |
C |
1: 190,604,022 (GRCm39) |
D200G |
probably benign |
Het |
| Sipa1l1 |
A |
T |
12: 82,389,271 (GRCm39) |
K499M |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,906,407 (GRCm39) |
L404P |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Spmip4 |
G |
A |
6: 50,566,078 (GRCm39) |
|
probably null |
Het |
| St7 |
A |
C |
6: 17,854,998 (GRCm39) |
T312P |
probably damaging |
Het |
| Strbp |
T |
C |
2: 37,515,294 (GRCm39) |
E244G |
probably damaging |
Het |
| Tbc1d8 |
T |
G |
1: 39,416,061 (GRCm39) |
T871P |
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,141,049 (GRCm39) |
I286N |
probably damaging |
Het |
| Tead3 |
C |
A |
17: 28,552,491 (GRCm39) |
V327F |
probably damaging |
Het |
| Tmem132c |
A |
T |
5: 127,640,504 (GRCm39) |
T892S |
probably benign |
Het |
| Trmt2a |
T |
C |
16: 18,068,487 (GRCm39) |
S65P |
probably benign |
Het |
| Ubp1 |
A |
G |
9: 113,802,597 (GRCm39) |
N479S |
possibly damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,527 (GRCm39) |
L18F |
possibly damaging |
Het |
| Uevld |
T |
G |
7: 46,587,804 (GRCm39) |
M299L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,173,854 (GRCm39) |
Y1561N |
unknown |
Het |
| Ylpm1 |
A |
G |
12: 85,075,896 (GRCm39) |
K874E |
probably damaging |
Het |
| Zbtb37 |
G |
A |
1: 160,859,802 (GRCm39) |
R168W |
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 |
|
|
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 |
|
|
R7529:Muc21
|
UTSW |
17 |
35,930,123 (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'- TGTAGATCCTGAGGCAGTGCTG -3'
(R):5'- TGCCTCAGGATCTATGTCCACC -3'
Sequencing Primer
(F):5'- ATCCTGAGGCAGTGCTGGATAC -3'
(R):5'- GGATCTATGTCCACCCCGAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation