Incidental Mutation 'R7110:Muc21'
| ID |
551479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc21
|
| Ensembl Gene |
ENSMUSG00000090588 |
| Gene Name |
mucin 21 |
| Synonyms |
epiglycanin, Gm9573 |
| MMRRC Submission |
045202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R7110 (G1)
|
| Quality Score |
104.467 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35928815-35937529 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT to CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT
at 35933510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164502]
[ENSMUST00000174521]
|
| AlphaFold |
F7C950 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164502
|
| SMART Domains |
Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
A |
G |
11: 58,316,571 (GRCm39) |
T184A |
possibly damaging |
Het |
| Abca4 |
T |
A |
3: 121,926,292 (GRCm39) |
Y1243N |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,076,017 (GRCm39) |
T1250A |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,591 (GRCm39) |
V118A |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,263,332 (GRCm39) |
V364A |
possibly damaging |
Het |
| Cacna2d1 |
C |
A |
5: 16,562,782 (GRCm39) |
L853I |
probably damaging |
Het |
| Ccdc25 |
A |
G |
14: 66,094,165 (GRCm39) |
K124R |
probably benign |
Het |
| Ccdc73 |
A |
G |
2: 104,803,569 (GRCm39) |
M236V |
probably benign |
Het |
| Cdh1 |
G |
A |
8: 107,395,176 (GRCm39) |
D862N |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,867,400 (GRCm39) |
D559G |
probably damaging |
Het |
| Celsr2 |
C |
A |
3: 108,305,181 (GRCm39) |
G2133C |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,469,896 (GRCm39) |
N1823S |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,534,999 (GRCm39) |
N562S |
probably damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,179,537 (GRCm39) |
S534R |
probably benign |
Het |
| Donson |
G |
A |
16: 91,479,009 (GRCm39) |
R436* |
probably null |
Het |
| Fam53c |
T |
A |
18: 34,895,523 (GRCm39) |
|
probably null |
Het |
| Foxi3 |
A |
G |
6: 70,937,730 (GRCm39) |
T321A |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,273,192 (GRCm39) |
Y733* |
probably null |
Het |
| Fscn2 |
A |
T |
11: 120,257,580 (GRCm39) |
T314S |
probably benign |
Het |
| Gfral |
A |
G |
9: 76,072,112 (GRCm39) |
I386T |
possibly damaging |
Het |
| Gm21698 |
T |
C |
5: 26,190,175 (GRCm39) |
E174G |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gprin1 |
T |
C |
13: 54,887,056 (GRCm39) |
D406G |
probably benign |
Het |
| Habp2 |
A |
T |
19: 56,299,596 (GRCm39) |
R128* |
probably null |
Het |
| Hoxc10 |
A |
T |
15: 102,879,356 (GRCm39) |
Y292F |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,081,583 (GRCm39) |
|
probably null |
Het |
| Igkv12-89 |
T |
C |
6: 68,812,115 (GRCm39) |
D18G |
probably damaging |
Het |
| Jhy |
T |
C |
9: 40,828,556 (GRCm39) |
N450S |
probably damaging |
Het |
| Klhl18 |
T |
A |
9: 110,279,833 (GRCm39) |
Q119L |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lsmem1 |
A |
T |
12: 40,235,272 (GRCm39) |
|
probably null |
Het |
| Ly75 |
A |
G |
2: 60,206,528 (GRCm39) |
I47T |
probably benign |
Het |
| Med12l |
C |
A |
3: 59,169,645 (GRCm39) |
T1603K |
possibly damaging |
Het |
| Mgat5 |
A |
G |
1: 127,310,716 (GRCm39) |
D210G |
possibly damaging |
Het |
| Mgmt |
G |
T |
7: 136,687,715 (GRCm39) |
G55W |
probably damaging |
Het |
| Mrpl57 |
G |
A |
14: 58,063,754 (GRCm39) |
|
probably benign |
Het |
| Mtg1 |
G |
A |
7: 139,726,779 (GRCm39) |
R209Q |
probably benign |
Het |
| Muc5ac |
T |
G |
7: 141,353,559 (GRCm39) |
C826W |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,474,453 (GRCm39) |
D146G |
probably damaging |
Het |
| Nlrp4f |
T |
A |
13: 65,347,160 (GRCm39) |
I11F |
probably damaging |
Het |
| Nsun5 |
T |
A |
5: 135,400,104 (GRCm39) |
Y76N |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,284 (GRCm39) |
M82L |
possibly damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,435,975 (GRCm39) |
N647S |
possibly damaging |
Het |
| Pdgfra |
T |
A |
5: 75,349,895 (GRCm39) |
Y926* |
probably null |
Het |
| Pdzd2 |
A |
T |
15: 12,368,099 (GRCm39) |
L2630H |
probably damaging |
Het |
| Phox2b |
G |
A |
5: 67,253,505 (GRCm39) |
S297L |
unknown |
Het |
| Polr3e |
T |
A |
7: 120,539,510 (GRCm39) |
|
probably null |
Het |
| Ppp4r2 |
T |
A |
6: 100,842,823 (GRCm39) |
V238E |
probably damaging |
Het |
| Proc |
A |
T |
18: 32,266,441 (GRCm39) |
F129I |
probably benign |
Het |
| Sgca |
T |
A |
11: 94,854,227 (GRCm39) |
|
probably null |
Het |
| Slc7a10 |
A |
G |
7: 34,899,009 (GRCm39) |
H360R |
probably benign |
Het |
| Slurp2 |
G |
A |
15: 74,614,964 (GRCm39) |
T59I |
probably benign |
Het |
| Son |
A |
G |
16: 91,453,406 (GRCm39) |
T718A |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spink7 |
T |
C |
18: 62,727,338 (GRCm39) |
N62S |
probably damaging |
Het |
| Stxbp3 |
C |
A |
3: 108,723,649 (GRCm39) |
R195S |
probably damaging |
Het |
| Sulf1 |
G |
A |
1: 12,908,825 (GRCm39) |
V613M |
probably damaging |
Het |
| Tbc1d9b |
A |
T |
11: 50,054,657 (GRCm39) |
I934F |
probably benign |
Het |
| Tecpr2 |
T |
G |
12: 110,885,406 (GRCm39) |
L195R |
probably damaging |
Het |
| Tns2 |
G |
C |
15: 102,013,801 (GRCm39) |
C71S |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Usp40 |
G |
T |
1: 87,913,884 (GRCm39) |
T403K |
probably benign |
Het |
| Vat1 |
G |
T |
11: 101,356,539 (GRCm39) |
R141S |
possibly damaging |
Het |
| Vmn2r28 |
T |
G |
7: 5,493,733 (GRCm39) |
N71T |
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 |
|
|
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 |
|
|
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'- ATCCTGAGGCAGTGCTAGATG -3'
(R):5'- AAGATCTGTGCCCACCACTG -3'
Sequencing Primer
(F):5'- GCTAGATGCAGTGGTGGTC -3'
(R):5'- ACTGGCTCAGGCTCTACAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation