Incidental Mutation 'R5156:Muc19'
| ID |
396750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc19
|
| Ensembl Gene |
ENSMUSG00000044021 |
| Gene Name |
mucin 19 |
| Synonyms |
sld, apomucin |
| MMRRC Submission |
042738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R5156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91722531-91832440 bp(+) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
T to A
at 91784614 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: 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 |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
G |
T |
17: 79,935,638 (GRCm39) |
|
probably benign |
Het |
| Apeh |
C |
T |
9: 107,971,486 (GRCm39) |
A29T |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,826,524 (GRCm39) |
Y1013* |
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,762,355 (GRCm39) |
E537G |
unknown |
Het |
| Asf1b |
T |
C |
8: 84,682,540 (GRCm39) |
F28S |
probably damaging |
Het |
| Cd46 |
T |
A |
1: 194,767,693 (GRCm39) |
I123L |
possibly damaging |
Het |
| Cdca7 |
A |
T |
2: 72,309,370 (GRCm39) |
T48S |
probably damaging |
Het |
| Cfap53 |
T |
A |
18: 74,492,838 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,511,599 (GRCm39) |
T599S |
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,656,252 (GRCm39) |
T148S |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,699,400 (GRCm39) |
|
probably null |
Het |
| Dmpk |
A |
G |
7: 18,818,050 (GRCm39) |
D44G |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,728,782 (GRCm39) |
N223K |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,595,264 (GRCm39) |
M1392K |
probably benign |
Het |
| Edrf1 |
C |
T |
7: 133,261,908 (GRCm39) |
A867V |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,527,706 (GRCm39) |
C94S |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,666,037 (GRCm39) |
S373N |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,434,588 (GRCm39) |
D284G |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,678,366 (GRCm39) |
R29S |
possibly damaging |
Het |
| Gm13991 |
T |
C |
2: 116,358,665 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
A |
T |
7: 38,101,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
T |
A |
8: 111,336,333 (GRCm39) |
C5037S |
probably benign |
Het |
| Ikzf1 |
T |
A |
11: 11,719,448 (GRCm39) |
M492K |
probably damaging |
Het |
| Krt20 |
G |
T |
11: 99,320,879 (GRCm39) |
S394R |
possibly damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,653,094 (GRCm39) |
R107S |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,219,323 (GRCm39) |
T436A |
possibly damaging |
Het |
| Neu4 |
T |
C |
1: 93,952,177 (GRCm39) |
V182A |
probably damaging |
Het |
| Notch2 |
T |
G |
3: 98,031,626 (GRCm39) |
F1167V |
possibly damaging |
Het |
| Nrap |
A |
G |
19: 56,360,277 (GRCm39) |
M189T |
possibly damaging |
Het |
| Nt5m |
A |
T |
11: 59,765,487 (GRCm39) |
I172F |
probably damaging |
Het |
| Or5b118 |
G |
T |
19: 13,449,037 (GRCm39) |
K234N |
probably damaging |
Het |
| Or5w15 |
G |
A |
2: 87,568,119 (GRCm39) |
P183L |
possibly damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,362 (GRCm39) |
C241* |
probably null |
Het |
| Plekha5 |
C |
T |
6: 140,372,254 (GRCm39) |
T68M |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,392,461 (GRCm39) |
|
probably null |
Het |
| Ppp1r37 |
T |
C |
7: 19,295,900 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
T |
C |
10: 84,704,218 (GRCm39) |
Y238H |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,543,424 (GRCm39) |
|
probably null |
Het |
| Sec13 |
G |
A |
6: 113,707,837 (GRCm39) |
A161V |
probably benign |
Het |
| Serhl |
G |
A |
15: 82,986,895 (GRCm39) |
|
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,114,572 (GRCm39) |
V588A |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,592 (GRCm39) |
T727A |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,601,404 (GRCm39) |
D241E |
probably damaging |
Het |
| Spata2 |
G |
T |
2: 167,325,494 (GRCm39) |
H442N |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,404,731 (GRCm39) |
V2588A |
probably damaging |
Het |
| Tnfsf12 |
A |
G |
11: 69,578,155 (GRCm39) |
S141P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,219,762 (GRCm39) |
I2166M |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,187,948 (GRCm39) |
V388E |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,143,466 (GRCm39) |
V828A |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,436 (GRCm39) |
L455F |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,221,666 (GRCm39) |
S541T |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGTCTTGCTACACTCCAC -3'
(R):5'- CATCATCGAAAGCCTGCAAG -3'
Sequencing Primer
(F):5'- CCTCAGCTAACAGAATTATTGCAG -3'
(R):5'- AGTAGCACAGAGCATACC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation