Incidental Mutation 'R9621:Muc21'
| ID |
724832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc21
|
| Ensembl Gene |
ENSMUSG00000090588 |
| Gene Name |
mucin 21 |
| Synonyms |
epiglycanin, Gm9573 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R9621 (G1)
|
| Quality Score |
86.0076 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35928815-35937529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35932720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 489
(T489S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164502]
[ENSMUST00000174521]
|
| AlphaFold |
F7C950 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000164502
AA Change: T489S
|
| SMART Domains |
Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: T489S
| 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: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,092,918 (GRCm39) |
T289A |
probably benign |
Het |
| Adnp |
A |
T |
2: 168,024,663 (GRCm39) |
S877R |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,386,090 (GRCm39) |
H555Q |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,615,131 (GRCm39) |
Y38* |
probably null |
Het |
| Amtn |
C |
A |
5: 88,528,205 (GRCm39) |
Q93K |
probably benign |
Het |
| Ap2b1 |
T |
C |
11: 83,293,424 (GRCm39) |
V937A |
probably damaging |
Het |
| Arih1 |
ATCGTCCGGCTCGTCCTCGTCGTCGTCC |
ATCGTCC |
9: 59,393,520 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,917,512 (GRCm39) |
N711D |
possibly damaging |
Het |
| Bhmt |
A |
G |
13: 93,758,079 (GRCm39) |
S211P |
possibly damaging |
Het |
| Bltp3a |
T |
A |
17: 28,105,753 (GRCm39) |
S760T |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,715,306 (GRCm39) |
Y943C |
probably benign |
Het |
| Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
| Cbfb |
A |
C |
8: 105,905,243 (GRCm39) |
T62P |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,386,355 (GRCm39) |
F249L |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,111,983 (GRCm39) |
F514L |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,866,350 (GRCm39) |
E352G |
|
Het |
| Cep295nl |
G |
A |
11: 118,224,766 (GRCm39) |
P26L |
possibly damaging |
Het |
| Cfdp1 |
A |
G |
8: 112,571,807 (GRCm39) |
V34A |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 46,965,726 (GRCm39) |
I846F |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,050,278 (GRCm39) |
K1464E |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,326,613 (GRCm39) |
D1039G |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,713,116 (GRCm39) |
S778R |
|
Het |
| Daam2 |
C |
T |
17: 49,780,332 (GRCm39) |
C729Y |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,132 (GRCm39) |
H305R |
probably damaging |
Het |
| Dio1 |
C |
T |
4: 107,149,558 (GRCm39) |
C248Y |
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,016,772 (GRCm39) |
A1582S |
probably damaging |
Het |
| Eef1a1 |
A |
T |
9: 78,386,632 (GRCm39) |
D319E |
probably benign |
Het |
| Fam171b |
G |
A |
2: 83,643,109 (GRCm39) |
R6H |
probably damaging |
Het |
| Flnb |
G |
A |
14: 7,926,421 (GRCm38) |
G1822R |
probably damaging |
Het |
| Gabrb1 |
G |
A |
5: 72,279,363 (GRCm39) |
V303I |
possibly damaging |
Het |
| Gli3 |
T |
G |
13: 15,901,253 (GRCm39) |
S1547A |
probably benign |
Het |
| Gm4884 |
A |
T |
7: 40,693,111 (GRCm39) |
N360I |
possibly damaging |
Het |
| Ift70b |
T |
C |
2: 75,768,144 (GRCm39) |
Y203C |
probably damaging |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
C |
G |
2: 119,280,496 (GRCm39) |
K289N |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,393,870 (GRCm39) |
E1638K |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,274,812 (GRCm39) |
I45F |
unknown |
Het |
| Kif1a |
G |
A |
1: 92,983,445 (GRCm39) |
P684L |
probably benign |
Het |
| Kpnb1 |
A |
T |
11: 97,058,460 (GRCm39) |
S610T |
probably benign |
Het |
| Man1a2 |
A |
G |
3: 100,591,961 (GRCm39) |
V73A |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,235,621 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Nup210 |
G |
C |
6: 90,994,375 (GRCm39) |
N1774K |
probably benign |
Het |
| Or10p21 |
G |
T |
10: 128,847,759 (GRCm39) |
V202F |
probably benign |
Het |
| Pik3c2b |
T |
C |
1: 132,999,345 (GRCm39) |
S398P |
probably damaging |
Het |
| Pmpca |
A |
G |
2: 26,279,988 (GRCm39) |
T37A |
probably benign |
Het |
| Ppfia1 |
A |
G |
7: 144,052,516 (GRCm39) |
S840P |
probably damaging |
Het |
| Prkcq |
A |
T |
2: 11,261,014 (GRCm39) |
K355N |
probably benign |
Het |
| Prorp |
C |
A |
12: 55,429,042 (GRCm39) |
H538N |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,237,809 (GRCm38) |
K1422R |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,378,523 (GRCm39) |
E2006G |
probably damaging |
Het |
| Qsox1 |
TG |
T |
1: 155,671,135 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
A |
T |
19: 7,251,591 (GRCm39) |
T412S |
probably benign |
Het |
| Rnf224 |
A |
T |
2: 25,126,200 (GRCm39) |
M51K |
probably benign |
Het |
| Robo4 |
A |
G |
9: 37,317,509 (GRCm39) |
D521G |
probably damaging |
Het |
| Sf3b4 |
T |
A |
3: 96,084,115 (GRCm39) |
S360T |
unknown |
Het |
| Sgo2b |
T |
C |
8: 64,380,651 (GRCm39) |
D727G |
probably damaging |
Het |
| Smpd2 |
C |
A |
10: 41,364,283 (GRCm39) |
V172L |
probably benign |
Het |
| Spring1 |
C |
T |
5: 118,393,880 (GRCm39) |
T86I |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,273,887 (GRCm39) |
A1966T |
probably benign |
Het |
| Syt13 |
G |
A |
2: 92,745,575 (GRCm39) |
G15D |
possibly damaging |
Het |
| Taf3 |
A |
T |
2: 9,923,070 (GRCm39) |
L18Q |
unknown |
Het |
| Tcam1 |
T |
A |
11: 106,176,259 (GRCm39) |
N328K |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,193,767 (GRCm39) |
Y222* |
probably null |
Het |
| Timm29 |
A |
T |
9: 21,504,218 (GRCm39) |
|
probably benign |
Het |
| Tmc6 |
T |
C |
11: 117,669,995 (GRCm39) |
D17G |
probably benign |
Het |
| Tmem30a |
T |
A |
9: 79,687,926 (GRCm39) |
D81V |
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,511,501 (GRCm39) |
I195V |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,938,896 (GRCm39) |
V398E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,748,441 (GRCm39) |
T4203A |
possibly damaging |
Het |
| Ubc |
A |
G |
5: 125,464,511 (GRCm39) |
I272T |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 79,983,785 (GRCm39) |
L337P |
probably damaging |
Het |
| Vmn1r229 |
T |
C |
17: 21,035,315 (GRCm39) |
F187L |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,814,301 (GRCm39) |
M381K |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,342,635 (GRCm39) |
N338S |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,805,892 (GRCm39) |
E9G |
possibly damaging |
Het |
| Zrsr2-ps1 |
G |
A |
11: 22,923,418 (GRCm39) |
R64Q |
possibly damaging |
Het |
| Zswim8 |
T |
A |
14: 20,772,231 (GRCm39) |
S1614T |
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 |
|
|
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 |
|
|
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'- AGCTCTGCCTCAGGATCTATGC -3'
Sequencing Primer
(F):5'- TGTAGAGCCTGAGCCAGTG -3'
(R):5'- ATCCAGCACTGCCTCAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation