Incidental Mutation 'R9155:Muc21'
ID |
695340 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc21
|
Ensembl Gene |
ENSMUSG00000090588 |
Gene Name |
mucin 21 |
Synonyms |
epiglycanin, Gm9573 |
MMRRC Submission |
068941-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R9155 (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 35932131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 685
(P685L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164502]
[ENSMUST00000174521]
|
AlphaFold |
F7C950 |
Predicted Effect |
unknown
Transcript: ENSMUST00000164502
AA Change: P685L
|
SMART Domains |
Protein: ENSMUSP00000130987 Gene: ENSMUSG00000090588 AA Change: P685L
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
G |
5: 107,691,811 (GRCm39) |
E34G |
probably damaging |
Het |
Aldh1a3 |
A |
T |
7: 66,058,867 (GRCm39) |
L157* |
probably null |
Het |
Asic2 |
T |
A |
11: 80,784,872 (GRCm39) |
T356S |
probably benign |
Het |
Ate1 |
T |
C |
7: 129,996,463 (GRCm39) |
D459G |
probably damaging |
Het |
Cacna1g |
T |
A |
11: 94,350,423 (GRCm39) |
Q474L |
|
Het |
Calhm6 |
T |
C |
10: 34,002,363 (GRCm39) |
E240G |
probably damaging |
Het |
Carf |
C |
A |
1: 60,189,842 (GRCm39) |
T689K |
possibly damaging |
Het |
Carmil2 |
A |
G |
8: 106,412,922 (GRCm39) |
D6G |
probably benign |
Het |
Ccnd2 |
A |
C |
6: 127,127,663 (GRCm39) |
V25G |
probably damaging |
Het |
Ccnk |
T |
A |
12: 108,159,978 (GRCm39) |
F153L |
probably damaging |
Het |
Cdh23 |
C |
T |
10: 60,249,485 (GRCm39) |
G808E |
probably damaging |
Het |
Clec11a |
C |
T |
7: 43,954,317 (GRCm39) |
R212Q |
probably damaging |
Het |
Cog4 |
T |
C |
8: 111,608,384 (GRCm39) |
W749R |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,738,301 (GRCm39) |
T1073S |
probably benign |
Het |
Col6a4 |
T |
A |
9: 105,952,209 (GRCm39) |
D563V |
probably benign |
Het |
Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
Crebbp |
A |
C |
16: 3,914,346 (GRCm39) |
H1292Q |
probably damaging |
Het |
Csmd3 |
C |
A |
15: 47,449,051 (GRCm39) |
G2737W |
|
Het |
Ddrgk1 |
T |
C |
2: 130,500,227 (GRCm39) |
Y223C |
probably damaging |
Het |
Dennd1c |
T |
C |
17: 57,373,796 (GRCm39) |
Q589R |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,907,475 (GRCm39) |
D4336G |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
E330034G19Rik |
A |
T |
14: 24,346,938 (GRCm39) |
Q140L |
possibly damaging |
Het |
Ergic3 |
A |
G |
2: 155,850,780 (GRCm39) |
Y83C |
probably damaging |
Het |
Fam171a2 |
A |
T |
11: 102,329,497 (GRCm39) |
S421T |
probably benign |
Het |
Fndc3a |
T |
A |
14: 72,921,162 (GRCm39) |
H4L |
possibly damaging |
Het |
Gid8 |
T |
A |
2: 180,359,756 (GRCm39) |
Y213* |
probably null |
Het |
Hephl1 |
G |
T |
9: 15,000,375 (GRCm39) |
H292Q |
probably damaging |
Het |
Hexb |
T |
C |
13: 97,314,414 (GRCm39) |
Y443C |
probably damaging |
Het |
Htr1f |
C |
T |
16: 64,746,788 (GRCm39) |
R168H |
probably benign |
Het |
Hus1 |
A |
G |
11: 8,956,056 (GRCm39) |
I159T |
probably damaging |
Het |
Inha |
A |
G |
1: 75,486,133 (GRCm39) |
T143A |
probably benign |
Het |
Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
Itgae |
G |
T |
11: 73,016,089 (GRCm39) |
C766F |
possibly damaging |
Het |
Kank4 |
T |
C |
4: 98,666,563 (GRCm39) |
E628G |
probably benign |
Het |
Kctd19 |
T |
C |
8: 106,120,571 (GRCm39) |
H221R |
probably benign |
Het |
Llgl1 |
A |
G |
11: 60,597,934 (GRCm39) |
E351G |
probably benign |
Het |
Lrba |
A |
G |
3: 86,202,508 (GRCm39) |
Y253C |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,291,713 (GRCm39) |
R3489* |
probably null |
Het |
Lrriq1 |
T |
C |
10: 103,050,640 (GRCm39) |
N704S |
probably benign |
Het |
Mbtps1 |
T |
C |
8: 120,235,693 (GRCm39) |
N995S |
probably benign |
Het |
Mga |
T |
C |
2: 119,757,013 (GRCm39) |
C1077R |
probably damaging |
Het |
Ndufv1 |
A |
T |
19: 4,059,912 (GRCm39) |
C142S |
probably damaging |
Het |
Nkx3-1 |
T |
C |
14: 69,429,660 (GRCm39) |
L226P |
probably damaging |
Het |
Nsd1 |
C |
T |
13: 55,361,253 (GRCm39) |
R74W |
probably damaging |
Het |
Or12k8 |
A |
C |
2: 36,975,016 (GRCm39) |
M248R |
probably benign |
Het |
Or1d2 |
A |
G |
11: 74,255,791 (GRCm39) |
T99A |
probably benign |
Het |
Or2n1d |
A |
T |
17: 38,646,224 (GRCm39) |
M59L |
probably damaging |
Het |
Or5b99 |
G |
A |
19: 12,976,428 (GRCm39) |
C26Y |
probably benign |
Het |
Or7g35 |
A |
T |
9: 19,496,379 (GRCm39) |
D182V |
probably benign |
Het |
Phc3 |
A |
G |
3: 30,968,691 (GRCm39) |
V812A |
probably benign |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Ppp4c |
A |
T |
7: 126,386,419 (GRCm39) |
C193S |
possibly damaging |
Het |
Rbbp5 |
C |
A |
1: 132,422,023 (GRCm39) |
P308T |
probably damaging |
Het |
Rhot1 |
A |
G |
11: 80,148,380 (GRCm39) |
T607A |
probably null |
Het |
Secisbp2l |
G |
A |
2: 125,617,623 (GRCm39) |
P18L |
probably damaging |
Het |
Slc27a4 |
G |
A |
2: 29,701,294 (GRCm39) |
G362S |
probably damaging |
Het |
Slc4a8 |
T |
C |
15: 100,672,571 (GRCm39) |
Y36H |
probably damaging |
Het |
Sox17 |
T |
C |
1: 4,562,447 (GRCm39) |
Y251C |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,946,296 (GRCm39) |
V373A |
probably benign |
Het |
Tecpr2 |
T |
A |
12: 110,881,184 (GRCm39) |
V107E |
probably damaging |
Het |
Them7 |
A |
G |
2: 105,209,124 (GRCm39) |
Y148C |
probably damaging |
Het |
Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,625,937 (GRCm39) |
V15041I |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,754,615 (GRCm39) |
V751A |
possibly damaging |
Het |
Vmn1r213 |
A |
T |
13: 23,196,343 (GRCm39) |
R309* |
probably null |
Het |
Vmn2r10 |
A |
T |
5: 109,144,212 (GRCm39) |
D579E |
probably benign |
Het |
Vmn2r118 |
T |
C |
17: 55,917,207 (GRCm39) |
Q435R |
probably null |
Het |
Vmn2r50 |
A |
T |
7: 9,781,571 (GRCm39) |
H391Q |
probably damaging |
Het |
Zbtb44 |
A |
T |
9: 30,965,309 (GRCm39) |
I240F |
probably benign |
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 |
|
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 |
|
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'- AGGCAGTGCTGGATTCAGTG -3'
(R):5'- TCTGACCACCACTGCATCTAG -3'
Sequencing Primer
(F):5'- TAGAGCCTGAGCCACTGC -3'
(R):5'- GCAGTGGCTCAGGCTCTAC -3'
|
Posted On |
2022-01-20 |