Incidental Mutation 'IGL01589:Muc19'
| ID |
91522 |
| 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: 0.182)
|
| Stock # |
IGL01589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
91722531-91832440 bp(+) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
A to T
at 91754699 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 |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,046,003 (GRCm39) |
F307S |
probably damaging |
Het |
| Abcc6 |
A |
T |
7: 45,652,096 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,311,323 (GRCm39) |
D1193E |
probably benign |
Het |
| Akap6 |
T |
A |
12: 53,186,447 (GRCm39) |
L1287H |
probably damaging |
Het |
| Ascl3 |
A |
G |
7: 109,327,245 (GRCm39) |
S25P |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,336,016 (GRCm39) |
S66P |
probably damaging |
Het |
| Cacna1i |
C |
A |
15: 80,271,960 (GRCm39) |
|
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,715,602 (GRCm39) |
Y670C |
probably damaging |
Het |
| Clybl |
T |
A |
14: 122,608,834 (GRCm39) |
I142N |
probably damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,379 (GRCm39) |
|
probably null |
Het |
| Dck |
C |
T |
5: 88,922,095 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,651 (GRCm39) |
Y1053H |
probably damaging |
Het |
| Gm9912 |
T |
C |
3: 148,890,986 (GRCm39) |
D49G |
unknown |
Het |
| Gpr107 |
T |
C |
2: 31,057,163 (GRCm39) |
|
probably benign |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,036 (GRCm39) |
F227S |
probably damaging |
Het |
| Lrrtm2 |
T |
A |
18: 35,345,851 (GRCm39) |
N484Y |
probably damaging |
Het |
| Nodal |
G |
A |
10: 61,254,176 (GRCm39) |
R33Q |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,587 (GRCm39) |
L86P |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,809,038 (GRCm39) |
I569V |
probably benign |
Het |
| Plekhg1 |
T |
C |
10: 3,913,631 (GRCm39) |
Y1118H |
probably benign |
Het |
| Polr2a |
T |
G |
11: 69,632,020 (GRCm39) |
E1015D |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,785,495 (GRCm39) |
F667S |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,496,754 (GRCm39) |
Y749C |
probably damaging |
Het |
| Serpinb1c |
C |
A |
13: 33,070,155 (GRCm39) |
V136F |
probably damaging |
Het |
| Slain2 |
T |
C |
5: 73,098,789 (GRCm39) |
|
probably benign |
Het |
| Slc10a7 |
T |
C |
8: 79,456,369 (GRCm39) |
S296P |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,428,112 (GRCm39) |
R320W |
probably damaging |
Het |
| Usp16 |
G |
A |
16: 87,276,071 (GRCm39) |
A469T |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,899,066 (GRCm39) |
L469F |
probably benign |
Het |
| Zfp772 |
A |
G |
7: 7,208,523 (GRCm39) |
F107S |
possibly damaging |
Het |
|
| Other mutations in Muc19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Muc19
|
APN |
15 |
91,770,943 (GRCm39) |
exon |
noncoding transcript |
|
|
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation