Incidental Mutation 'IGL02088:Muc19'
ID |
279303 |
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 # |
IGL02088
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91722531-91832440 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 91775362 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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
T |
C |
9: 103,976,080 (GRCm39) |
E289G |
probably damaging |
Het |
Aldh1l1 |
A |
T |
6: 90,557,572 (GRCm39) |
|
probably benign |
Het |
Ampd3 |
T |
A |
7: 110,392,893 (GRCm39) |
D220E |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,835,203 (GRCm39) |
V136A |
probably damaging |
Het |
Atg14 |
T |
C |
14: 47,780,316 (GRCm39) |
K486R |
probably benign |
Het |
Axin1 |
A |
G |
17: 26,407,669 (GRCm39) |
I637V |
probably benign |
Het |
Axin2 |
T |
A |
11: 108,814,442 (GRCm39) |
F110Y |
probably damaging |
Het |
Cdh12 |
A |
T |
15: 21,480,425 (GRCm39) |
K214* |
probably null |
Het |
Cfap44 |
A |
C |
16: 44,271,991 (GRCm39) |
E1248A |
possibly damaging |
Het |
Cryba4 |
A |
G |
5: 112,398,875 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
A |
G |
19: 39,691,965 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,459,264 (GRCm39) |
|
probably null |
Het |
Dok3 |
A |
T |
13: 55,672,183 (GRCm39) |
V165E |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,811,359 (GRCm39) |
R1147S |
probably damaging |
Het |
Fbxl6 |
G |
T |
15: 76,420,106 (GRCm39) |
C502* |
probably null |
Het |
Gp2 |
A |
T |
7: 119,053,692 (GRCm39) |
Y90N |
probably damaging |
Het |
H1f7 |
G |
T |
15: 98,155,059 (GRCm39) |
T30K |
probably damaging |
Het |
Inka1 |
A |
G |
9: 107,861,656 (GRCm39) |
F220S |
probably damaging |
Het |
Itfg2 |
A |
G |
6: 128,388,569 (GRCm39) |
V306A |
probably benign |
Het |
Lrig2 |
T |
C |
3: 104,374,424 (GRCm39) |
Y219C |
probably damaging |
Het |
Mccc1 |
A |
T |
3: 36,028,351 (GRCm39) |
I485N |
probably damaging |
Het |
Mettl25 |
A |
G |
10: 105,659,111 (GRCm39) |
F391L |
probably damaging |
Het |
Muc2 |
T |
C |
7: 141,305,241 (GRCm39) |
C182R |
probably damaging |
Het |
Nlrp4g |
T |
C |
9: 124,350,453 (GRCm38) |
|
noncoding transcript |
Het |
Nms |
A |
G |
1: 38,978,358 (GRCm39) |
|
probably benign |
Het |
Nr3c1 |
T |
C |
18: 39,557,444 (GRCm39) |
N503S |
probably damaging |
Het |
Or10q12 |
T |
C |
19: 13,746,030 (GRCm39) |
F108S |
probably damaging |
Het |
Or5h18 |
A |
G |
16: 58,847,415 (GRCm39) |
L285P |
probably damaging |
Het |
Or7g16 |
C |
T |
9: 18,727,219 (GRCm39) |
V124I |
probably benign |
Het |
Pcdhb5 |
G |
A |
18: 37,455,012 (GRCm39) |
S464N |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,039,243 (GRCm39) |
T6A |
unknown |
Het |
Rdx |
A |
G |
9: 51,972,183 (GRCm39) |
|
probably benign |
Het |
Shmt1 |
T |
C |
11: 60,680,479 (GRCm39) |
T403A |
probably damaging |
Het |
Slc35d1 |
A |
G |
4: 103,068,522 (GRCm39) |
F148L |
probably benign |
Het |
Tk1 |
A |
G |
11: 117,715,491 (GRCm39) |
|
probably benign |
Het |
Tnks |
T |
A |
8: 35,307,148 (GRCm39) |
I1134F |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,557,035 (GRCm39) |
V29990A |
probably damaging |
Het |
Tut4 |
A |
G |
4: 108,369,415 (GRCm39) |
|
probably benign |
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 |
|
IGL01589:Muc19
|
APN |
15 |
91,754,699 (GRCm39) |
exon |
noncoding transcript |
|
IGL02023:Muc19
|
APN |
15 |
91,772,453 (GRCm39) |
exon |
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 |