Incidental Mutation 'R7798:Muc21'
| ID |
600397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc21
|
| Ensembl Gene |
ENSMUSG00000090588 |
| Gene Name |
mucin 21 |
| Synonyms |
epiglycanin, Gm9573 |
| MMRRC Submission |
045648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7798 (G1)
|
| Quality Score |
100.008 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35928815-35937529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 35932146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Alanine
at position 680
(G680A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164502]
[ENSMUST00000174521]
|
| AlphaFold |
F7C950 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000164502
AA Change: G680A
|
| SMART Domains |
Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: G680A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
A |
15: 79,019,932 (GRCm39) |
N128I |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,664 (GRCm39) |
T1176A |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,029,005 (GRCm39) |
V851A |
probably benign |
Het |
| Abcc6 |
C |
A |
7: 45,626,277 (GRCm39) |
E1494* |
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,106,952 (GRCm39) |
V56E |
probably damaging |
Het |
| Adamts15 |
G |
A |
9: 30,815,939 (GRCm39) |
T639M |
probably damaging |
Het |
| Albfm1 |
T |
C |
5: 90,745,370 (GRCm39) |
S608P |
possibly damaging |
Het |
| Arhgap11a |
A |
C |
2: 113,673,680 (GRCm39) |
V70G |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,249 (GRCm39) |
D113E |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,969,035 (GRCm39) |
Y227C |
probably damaging |
Het |
| Camk2b |
A |
G |
11: 5,928,399 (GRCm39) |
S447P |
probably benign |
Het |
| Ccdc88a |
C |
A |
11: 29,427,348 (GRCm39) |
Q1018K |
probably benign |
Het |
| Cdhr17 |
T |
C |
5: 17,061,656 (GRCm39) |
F801L |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,507,079 (GRCm39) |
V180D |
|
Het |
| Clca3a1 |
T |
A |
3: 144,463,723 (GRCm39) |
T185S |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,533,891 (GRCm39) |
S495G |
probably damaging |
Het |
| Cyb5r2 |
A |
T |
7: 107,353,155 (GRCm39) |
Y96N |
possibly damaging |
Het |
| Cyp21a1 |
T |
C |
17: 35,023,295 (GRCm39) |
K27E |
probably benign |
Het |
| Cyp2ab1 |
T |
C |
16: 20,131,166 (GRCm39) |
E321G |
probably benign |
Het |
| Des |
T |
C |
1: 75,339,003 (GRCm39) |
I228T |
probably damaging |
Het |
| Dis3l |
G |
T |
9: 64,248,299 (GRCm39) |
P39T |
probably benign |
Het |
| Disp2 |
A |
C |
2: 118,622,360 (GRCm39) |
I1031L |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,786,757 (GRCm39) |
|
probably null |
Het |
| Fgf23 |
A |
T |
6: 127,050,177 (GRCm39) |
D62V |
probably damaging |
Het |
| Galnt15 |
C |
T |
14: 31,751,862 (GRCm39) |
T138I |
possibly damaging |
Het |
| Ggt6 |
A |
T |
11: 72,326,367 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
A |
14: 118,391,098 (GRCm39) |
V209D |
probably damaging |
Het |
| Gzma |
A |
T |
13: 113,232,858 (GRCm39) |
F78Y |
probably benign |
Het |
| Igkv8-30 |
A |
T |
6: 70,094,355 (GRCm39) |
C19S |
probably benign |
Het |
| Il1r1 |
G |
A |
1: 40,349,526 (GRCm39) |
V361I |
probably benign |
Het |
| Intu |
T |
C |
3: 40,646,359 (GRCm39) |
V598A |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,287,513 (GRCm39) |
F471L |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,924,357 (GRCm39) |
V1081E |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,957,180 (GRCm39) |
V2163E |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,271,893 (GRCm39) |
K6552E |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,956,315 (GRCm39) |
H842R |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,116,497 (GRCm39) |
T10A |
possibly damaging |
Het |
| Muc5ac |
T |
C |
7: 141,347,778 (GRCm39) |
|
probably null |
Het |
| Nrk |
CGCAGCAGCAGCAGCAGCAGC |
CGCAGCAGCAGCAGCAGC |
X: 137,883,426 (GRCm39) |
|
probably benign |
Het |
| Nsun4 |
T |
G |
4: 115,908,371 (GRCm39) |
S730R |
possibly damaging |
Het |
| Or12e1 |
A |
T |
2: 87,022,636 (GRCm39) |
I202L |
probably benign |
Het |
| Or12k7 |
A |
T |
2: 36,959,186 (GRCm39) |
S290C |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,750,348 (GRCm39) |
E4G |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,617 (GRCm39) |
F305L |
probably benign |
Het |
| Or4k15 |
A |
T |
14: 50,364,895 (GRCm39) |
Y287F |
probably damaging |
Het |
| Padi3 |
C |
T |
4: 140,513,750 (GRCm39) |
E653K |
probably benign |
Het |
| Pde4a |
A |
G |
9: 21,109,959 (GRCm39) |
E280G |
possibly damaging |
Het |
| Phactr3 |
G |
A |
2: 177,925,703 (GRCm39) |
R326H |
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,786,397 (GRCm39) |
P619L |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,167,224 (GRCm39) |
R368W |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,116,293 (GRCm39) |
T240A |
probably benign |
Het |
| Rpa1 |
A |
T |
11: 75,203,635 (GRCm39) |
Y356N |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,252,579 (GRCm39) |
D165E |
probably damaging |
Het |
| Sco1 |
A |
G |
11: 66,944,628 (GRCm39) |
T84A |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,804,531 (GRCm39) |
I380V |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,759 (GRCm39) |
W793R |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,968,344 (GRCm39) |
S459P |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,771,162 (GRCm39) |
S1503R |
possibly damaging |
Het |
| Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
| Spty2d1 |
G |
A |
7: 46,645,804 (GRCm39) |
S613F |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,793,776 (GRCm39) |
Y440N |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 85,916,117 (GRCm39) |
Y290H |
probably damaging |
Het |
| Tex15 |
C |
T |
8: 34,071,875 (GRCm39) |
S2474F |
possibly damaging |
Het |
| Tgtp1 |
A |
G |
11: 48,878,159 (GRCm39) |
F182S |
probably benign |
Het |
| Tmcc1 |
A |
T |
6: 116,020,539 (GRCm39) |
S304R |
|
Het |
| Tmem130 |
T |
G |
5: 144,680,580 (GRCm39) |
K275Q |
probably damaging |
Het |
| Tmem9 |
C |
A |
1: 135,961,927 (GRCm39) |
T174K |
probably damaging |
Het |
| Ttyh3 |
C |
T |
5: 140,620,538 (GRCm39) |
R233Q |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,963,389 (GRCm39) |
M323K |
possibly damaging |
Het |
| Twnk |
T |
C |
19: 44,996,107 (GRCm39) |
M180T |
probably benign |
Het |
| Ube4a |
A |
G |
9: 44,844,629 (GRCm39) |
V874A |
probably damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,475,582 (GRCm39) |
N350S |
probably damaging |
Het |
| Vegfa |
C |
T |
17: 46,342,761 (GRCm39) |
G19D |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,041,518 (GRCm39) |
C399F |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,530 (GRCm39) |
P385T |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,192 (GRCm39) |
F164S |
probably 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 |
|
|
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 |
|
|
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'- TGAGGCAGTGCTGGATTCAG -3'
(R):5'- ATCAGGCTCTACACCCACTCTG -3'
Sequencing Primer
(F):5'- TGTAGAGCCTGAGCCAGTG -3'
(R):5'- TCTGACCACCACTGCATCTAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation