Incidental Mutation 'R4110:Muc19'
ID |
317274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc19
|
Ensembl Gene |
ENSMUSG00000044021 |
Gene Name |
mucin 19 |
Synonyms |
sld, apomucin |
MMRRC Submission |
040988-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.182)
|
Stock # |
R4110 (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 91781816 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
100% (61/61) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Acot10 |
A |
T |
15: 20,666,612 (GRCm39) |
L43Q |
probably damaging |
Het |
Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
Als2cl |
T |
C |
9: 110,713,115 (GRCm39) |
S2P |
probably benign |
Het |
AW209491 |
T |
C |
13: 14,812,158 (GRCm39) |
V337A |
probably damaging |
Het |
Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
BC023105 |
A |
G |
18: 60,575,356 (GRCm39) |
|
noncoding transcript |
Het |
Blvra |
T |
C |
2: 126,937,075 (GRCm39) |
V176A |
probably damaging |
Het |
Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Col6a2 |
T |
A |
10: 76,442,003 (GRCm39) |
|
probably null |
Het |
Cse1l |
T |
C |
2: 166,783,970 (GRCm39) |
Y488H |
probably benign |
Het |
Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,643,366 (GRCm39) |
A1262T |
probably benign |
Het |
Dtwd2 |
A |
C |
18: 49,831,373 (GRCm39) |
|
probably benign |
Het |
Fadd |
C |
A |
7: 144,134,488 (GRCm39) |
K132N |
possibly damaging |
Het |
Fndc3c1 |
T |
C |
X: 105,487,897 (GRCm39) |
N462S |
probably benign |
Het |
Fzd3 |
A |
G |
14: 65,472,616 (GRCm39) |
V384A |
probably benign |
Het |
Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
Gsdmc |
T |
A |
15: 63,651,876 (GRCm39) |
H245L |
probably benign |
Het |
H13 |
T |
C |
2: 152,523,029 (GRCm39) |
I114T |
probably damaging |
Het |
Hhipl2 |
A |
G |
1: 183,204,920 (GRCm39) |
R78G |
probably benign |
Het |
Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
Ldc1 |
A |
T |
4: 130,112,967 (GRCm39) |
L143Q |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,044,055 (GRCm39) |
N330S |
probably damaging |
Het |
Myh14 |
T |
G |
7: 44,277,974 (GRCm39) |
M1092L |
probably benign |
Het |
Neb |
A |
G |
2: 52,038,778 (GRCm39) |
I2899T |
probably benign |
Het |
Neb |
T |
A |
2: 52,134,137 (GRCm39) |
Q3282L |
probably damaging |
Het |
Nqo2 |
A |
T |
13: 34,163,620 (GRCm39) |
Q93L |
probably benign |
Het |
Or13a18 |
T |
A |
7: 140,190,178 (GRCm39) |
L33Q |
possibly damaging |
Het |
Or13a18 |
C |
A |
7: 140,190,177 (GRCm39) |
L33M |
probably benign |
Het |
Or4a2 |
C |
A |
2: 89,248,444 (GRCm39) |
L104F |
probably benign |
Het |
Or51i2 |
T |
C |
7: 103,689,609 (GRCm39) |
V202A |
probably damaging |
Het |
Pcsk1 |
A |
G |
13: 75,244,488 (GRCm39) |
N122S |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,668,745 (GRCm39) |
I966V |
probably benign |
Het |
Phldb1 |
G |
A |
9: 44,627,128 (GRCm39) |
T439I |
possibly damaging |
Het |
Pign |
A |
G |
1: 105,481,540 (GRCm39) |
|
probably benign |
Het |
Pkn1 |
A |
T |
8: 84,417,828 (GRCm39) |
D120E |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,546,348 (GRCm39) |
Y301H |
probably damaging |
Het |
Raly |
C |
T |
2: 154,699,378 (GRCm39) |
Q61* |
probably null |
Het |
Rpl24 |
T |
C |
16: 55,791,723 (GRCm39) |
V148A |
probably benign |
Het |
S100a16 |
A |
G |
3: 90,449,379 (GRCm39) |
N18S |
probably damaging |
Het |
Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
Slc22a12 |
C |
A |
19: 6,590,658 (GRCm39) |
R203L |
probably damaging |
Het |
Ssbp3 |
C |
A |
4: 106,904,393 (GRCm39) |
|
probably benign |
Het |
Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
Tbr1 |
C |
T |
2: 61,642,076 (GRCm39) |
P184L |
probably benign |
Het |
Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
Tnc |
A |
G |
4: 63,933,188 (GRCm39) |
V692A |
probably damaging |
Het |
Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
Topbp1 |
G |
T |
9: 103,187,158 (GRCm39) |
R121L |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
Wdfy3 |
C |
T |
5: 102,047,924 (GRCm39) |
|
probably null |
Het |
Zbtb3 |
G |
C |
19: 8,780,384 (GRCm39) |
|
probably benign |
Het |
Zfp715 |
T |
A |
7: 42,947,304 (GRCm39) |
K885N |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGAACGTGTGAGTTATCC -3'
(R):5'- TGCTATGGCAGTCCCTGAAG -3'
Sequencing Primer
(F):5'- TTATCCTGGTGTCAATAATTTGGTC -3'
(R):5'- AGTCCCTGAAGGTGTCATCC -3'
|
Posted On |
2015-05-15 |