Incidental Mutation 'IGL00985:Muc19'
| ID |
306668 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Muc19
|
| Ensembl Gene |
ENSMUSG00000044021 |
| Gene Name |
mucin 19 |
| Synonyms |
sld, apomucin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL00985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
91722531-91832440 bp(+) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
G to T
at 91770943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160242
|
| SMART Domains |
Protein: ENSMUSP00000125205
Gene: ENSMUSG00000044021
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
VWD
|
47 |
198 |
1.31e-13 |
SMART |
|
Pfam:C8
|
221 |
293 |
1.1e-8 |
PFAM |
|
Pfam:TIL
|
298 |
353 |
1.6e-11 |
PFAM |
|
VWD
|
383 |
545 |
1.58e-25 |
SMART |
|
C8
|
577 |
651 |
8.71e-20 |
SMART |
|
Pfam:TIL
|
654 |
711 |
2.1e-7 |
PFAM |
|
Pfam:TIL
|
753 |
813 |
5.2e-8 |
PFAM |
|
VWD
|
842 |
1005 |
2.36e-47 |
SMART |
|
C8
|
1041 |
1115 |
1.84e-27 |
SMART |
|
low complexity region
|
1220 |
1254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178108
|
| SMART Domains |
Protein: ENSMUSP00000136475
Gene: ENSMUSG00000044021
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
VWD
|
30 |
181 |
1.31e-13 |
SMART |
|
Pfam:C8
|
200 |
277 |
2.5e-8 |
PFAM |
|
Pfam:TIL
|
281 |
336 |
7.5e-12 |
PFAM |
|
Pfam:VWD
|
377 |
477 |
4.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180042
|
| SMART Domains |
Protein: ENSMUSP00000136207
Gene: ENSMUSG00000044021
| Domain | Start | End | E-Value | Type |
|---|
|
C8
|
17 |
91 |
8.71e-20 |
SMART |
|
Pfam:TIL
|
94 |
151 |
1.2e-7 |
PFAM |
|
Pfam:TIL
|
193 |
253 |
6.6e-8 |
PFAM |
|
VWD
|
282 |
445 |
2.36e-47 |
SMART |
|
C8
|
481 |
555 |
1.84e-27 |
SMART |
|
low complexity region
|
660 |
701 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for this spontaneous mutation show a partially arrested mucous cell differentiation of the sublingual glands. Severe inflammatory lesions resembling Sjogren's syndrome develop spontaneously in salivary and lacrimal glands of neonatally thymectomized mutants without any immunization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630091E08Rik |
G |
T |
7: 98,193,125 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
G |
A |
7: 119,996,241 (GRCm39) |
G1389E |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,184,600 (GRCm39) |
V92A |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,481 (GRCm39) |
S540G |
probably benign |
Het |
| Aplnr |
A |
T |
2: 84,968,007 (GRCm39) |
Y344F |
probably benign |
Het |
| Atm |
A |
T |
9: 53,371,116 (GRCm39) |
V2241E |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,403,023 (GRCm39) |
|
probably benign |
Het |
| Cnpy1 |
A |
T |
5: 28,414,152 (GRCm39) |
Y91* |
probably null |
Het |
| Cobl |
C |
A |
11: 12,204,843 (GRCm39) |
G613W |
probably damaging |
Het |
| Csn1s2a |
T |
C |
5: 87,932,439 (GRCm39) |
S121P |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,585 (GRCm39) |
Y871F |
unknown |
Het |
| Gapvd1 |
T |
A |
2: 34,585,575 (GRCm39) |
D1008V |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,807,401 (GRCm39) |
L515P |
probably damaging |
Het |
| Igfl3 |
T |
C |
7: 17,914,000 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
A |
T |
7: 30,279,352 (GRCm39) |
V1470E |
probably damaging |
Het |
| Mcc |
A |
T |
18: 44,624,306 (GRCm39) |
L413Q |
probably damaging |
Het |
| Mia2 |
G |
A |
12: 59,235,146 (GRCm39) |
G610D |
probably damaging |
Het |
| Mlst8 |
A |
T |
17: 24,696,287 (GRCm39) |
D147E |
probably damaging |
Het |
| Mybpc3 |
A |
G |
2: 90,965,704 (GRCm39) |
E1172G |
probably benign |
Het |
| Niban3 |
T |
C |
8: 72,057,507 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,802,133 (GRCm39) |
L557Q |
probably damaging |
Het |
| P3h3 |
T |
C |
6: 124,822,552 (GRCm39) |
T540A |
probably benign |
Het |
| Phc3 |
T |
A |
3: 30,968,346 (GRCm39) |
I897F |
probably benign |
Het |
| Plekhh2 |
G |
A |
17: 84,871,356 (GRCm39) |
V205I |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,547,254 (GRCm39) |
K506E |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,471,100 (GRCm39) |
T450K |
probably damaging |
Het |
| Retnlg |
G |
A |
16: 48,694,688 (GRCm39) |
R112H |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,151,075 (GRCm39) |
V101A |
probably damaging |
Het |
| Serinc5 |
A |
G |
13: 92,842,779 (GRCm39) |
T410A |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,356,796 (GRCm39) |
V553A |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,912 (GRCm39) |
W317R |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,703,790 (GRCm39) |
T268A |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,399,148 (GRCm39) |
K1044E |
possibly damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,185,900 (GRCm39) |
L431I |
probably damaging |
Het |
| Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
| Tm7sf3 |
C |
T |
6: 146,507,692 (GRCm39) |
V457I |
possibly damaging |
Het |
| Tmem132c |
A |
T |
5: 127,581,930 (GRCm39) |
S382C |
probably damaging |
Het |
| Tmprss7 |
C |
A |
16: 45,482,685 (GRCm39) |
C582F |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,816,105 (GRCm39) |
E1694G |
probably damaging |
Het |
| Txndc2 |
G |
T |
17: 65,945,544 (GRCm39) |
S211Y |
possibly damaging |
Het |
| Ubr3 |
A |
C |
2: 69,833,775 (GRCm39) |
T205P |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,489 (GRCm39) |
G741D |
probably damaging |
Het |
| Vps8 |
G |
A |
16: 21,296,334 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
G |
A |
5: 65,409,642 (GRCm39) |
D1127N |
probably benign |
Het |
| Zim1 |
T |
A |
7: 6,685,759 (GRCm39) |
Y83F |
possibly damaging |
Het |
|
| Other mutations in Muc19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Muc19
|
APN |
15 |
91,764,901 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01140:Muc19
|
APN |
15 |
91,783,593 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01292:Muc19
|
APN |
15 |
91,778,470 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01397:Muc19
|
APN |
15 |
91,778,498 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01525:Muc19
|
APN |
15 |
91,770,877 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01589:Muc19
|
APN |
15 |
91,754,699 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02023:Muc19
|
APN |
15 |
91,772,453 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02088:Muc19
|
APN |
15 |
91,775,362 (GRCm39) |
splice site |
noncoding transcript |
|
|
IGL02168:Muc19
|
APN |
15 |
91,778,292 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02343:Muc19
|
APN |
15 |
91,778,428 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02402:Muc19
|
APN |
15 |
91,778,192 (GRCm39) |
splice site |
noncoding transcript |
|
|
IGL02433:Muc19
|
APN |
15 |
91,756,694 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02533:Muc19
|
APN |
15 |
91,782,241 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02558:Muc19
|
APN |
15 |
91,781,816 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02652:Muc19
|
APN |
15 |
91,762,009 (GRCm39) |
critical splice donor site |
noncoding transcript |
|
|
IGL03032:Muc19
|
APN |
15 |
91,808,424 (GRCm39) |
unclassified |
noncoding transcript |
|
|
IGL02837:Muc19
|
UTSW |
15 |
91,766,850 (GRCm39) |
exon |
noncoding transcript |
|
|
R0098:Muc19
|
UTSW |
15 |
91,777,101 (GRCm39) |
exon |
noncoding transcript |
|
|
R0098:Muc19
|
UTSW |
15 |
91,777,101 (GRCm39) |
exon |
noncoding transcript |
|
|
R0208:Muc19
|
UTSW |
15 |
91,777,218 (GRCm39) |
splice site |
noncoding transcript |
|
|
R0597:Muc19
|
UTSW |
15 |
91,784,696 (GRCm39) |
splice site |
noncoding transcript |
|
|
R1185:Muc19
|
UTSW |
15 |
91,762,743 (GRCm39) |
exon |
noncoding transcript |
|
|
R1185:Muc19
|
UTSW |
15 |
91,762,743 (GRCm39) |
exon |
noncoding transcript |
|
|
R1469:Muc19
|
UTSW |
15 |
91,758,498 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R1942:Muc19
|
UTSW |
15 |
91,776,666 (GRCm39) |
exon |
noncoding transcript |
|
|
R2035:Muc19
|
UTSW |
15 |
91,776,599 (GRCm39) |
splice site |
noncoding transcript |
|
|
R2208:Muc19
|
UTSW |
15 |
91,755,747 (GRCm39) |
exon |
noncoding transcript |
|
|
R2877:Muc19
|
UTSW |
15 |
91,777,200 (GRCm39) |
exon |
noncoding transcript |
|
|
R2897:Muc19
|
UTSW |
15 |
91,822,550 (GRCm39) |
critical splice donor site |
noncoding transcript |
|
|
R4110:Muc19
|
UTSW |
15 |
91,781,816 (GRCm39) |
exon |
noncoding transcript |
|
|
R4403:Muc19
|
UTSW |
15 |
91,755,768 (GRCm39) |
exon |
noncoding transcript |
|
|
R4606:Muc19
|
UTSW |
15 |
91,832,268 (GRCm39) |
exon |
noncoding transcript |
|
|
R4677:Muc19
|
UTSW |
15 |
91,772,411 (GRCm39) |
exon |
noncoding transcript |
|
|
R4753:Muc19
|
UTSW |
15 |
91,761,955 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R4781:Muc19
|
UTSW |
15 |
91,787,360 (GRCm39) |
critical splice donor site |
noncoding transcript |
|
|
R4869:Muc19
|
UTSW |
15 |
91,781,910 (GRCm39) |
exon |
noncoding transcript |
|
|
R5000:Muc19
|
UTSW |
15 |
91,757,429 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R5044:Muc19
|
UTSW |
15 |
91,772,332 (GRCm39) |
exon |
noncoding transcript |
|
|
R5156:Muc19
|
UTSW |
15 |
91,784,614 (GRCm39) |
exon |
noncoding transcript |
|
|
R5176:Muc19
|
UTSW |
15 |
91,776,374 (GRCm39) |
exon |
noncoding transcript |
|
|
R5224:Muc19
|
UTSW |
15 |
91,825,910 (GRCm39) |
exon |
noncoding transcript |
|
|
R5524:Muc19
|
UTSW |
15 |
91,778,587 (GRCm39) |
exon |
noncoding transcript |
|
|
R5568:Muc19
|
UTSW |
15 |
91,768,468 (GRCm39) |
splice site |
noncoding transcript |
|
|
R5592:Muc19
|
UTSW |
15 |
91,828,199 (GRCm39) |
exon |
noncoding transcript |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation