Incidental Mutation 'R2877:Muc19'
ID |
260639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc19
|
Ensembl Gene |
ENSMUSG00000044021 |
Gene Name |
mucin 19 |
Synonyms |
sld, apomucin |
MMRRC Submission |
040465-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.182)
|
Stock # |
R2877 (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 91777200 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 |
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
96% (66/69) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
C |
5: 109,886,811 (GRCm39) |
|
probably benign |
Het |
Abca13 |
C |
T |
11: 9,241,889 (GRCm39) |
L1251F |
possibly damaging |
Het |
Accsl |
A |
T |
2: 93,689,755 (GRCm39) |
M384K |
probably damaging |
Het |
Adss1 |
A |
C |
12: 112,600,623 (GRCm39) |
K197N |
probably damaging |
Het |
Alg11 |
A |
G |
8: 22,555,374 (GRCm39) |
N170D |
possibly damaging |
Het |
Ambn |
T |
C |
5: 88,608,559 (GRCm39) |
|
probably benign |
Het |
Anapc7 |
T |
C |
5: 122,566,219 (GRCm39) |
Y43H |
probably benign |
Het |
Anxa10 |
T |
A |
8: 62,513,373 (GRCm39) |
I255F |
probably damaging |
Het |
Atg2b |
A |
T |
12: 105,630,268 (GRCm39) |
Y374* |
probably null |
Het |
Axl |
T |
A |
7: 25,465,949 (GRCm39) |
M563L |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,422,055 (GRCm39) |
E1108G |
probably damaging |
Het |
Casp1 |
T |
C |
9: 5,303,110 (GRCm39) |
M188T |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,251,998 (GRCm39) |
C87* |
probably null |
Het |
Col6a3 |
G |
A |
1: 90,703,321 (GRCm39) |
T2475I |
unknown |
Het |
Creb3l4 |
A |
T |
3: 90,149,615 (GRCm39) |
S83R |
probably damaging |
Het |
Cyp2a4 |
G |
A |
7: 26,011,612 (GRCm39) |
E278K |
possibly damaging |
Het |
Dync1li2 |
A |
C |
8: 105,156,047 (GRCm39) |
Y265D |
probably damaging |
Het |
Eif3f |
G |
A |
7: 108,534,019 (GRCm39) |
|
probably null |
Het |
Eipr1 |
C |
T |
12: 28,810,091 (GRCm39) |
T22I |
possibly damaging |
Het |
Fbxo48 |
A |
G |
11: 16,903,382 (GRCm39) |
K3E |
possibly damaging |
Het |
Fbxw13 |
A |
G |
9: 109,010,534 (GRCm39) |
F368S |
probably damaging |
Het |
Fbxw19 |
A |
T |
9: 109,315,038 (GRCm39) |
W175R |
probably damaging |
Het |
Fibcd1 |
G |
A |
2: 31,728,678 (GRCm39) |
P60S |
probably benign |
Het |
Foxa3 |
A |
T |
7: 18,748,805 (GRCm39) |
M107K |
probably benign |
Het |
Foxj2 |
G |
A |
6: 122,819,791 (GRCm39) |
D560N |
probably damaging |
Het |
Gfm2 |
A |
G |
13: 97,289,757 (GRCm39) |
R181G |
possibly damaging |
Het |
Gpr25 |
C |
T |
1: 136,188,553 (GRCm39) |
G20D |
possibly damaging |
Het |
Grin1 |
A |
G |
2: 25,187,641 (GRCm39) |
V594A |
probably damaging |
Het |
Itpripl1 |
A |
G |
2: 126,983,534 (GRCm39) |
V196A |
probably benign |
Het |
Kcns1 |
A |
G |
2: 164,006,682 (GRCm39) |
I427T |
probably damaging |
Het |
Kiz |
T |
C |
2: 146,731,476 (GRCm39) |
V322A |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Naa16 |
A |
G |
14: 79,580,738 (GRCm39) |
M592T |
probably benign |
Het |
Naa80 |
A |
T |
9: 107,460,367 (GRCm39) |
E87D |
possibly damaging |
Het |
Ncapd3 |
T |
A |
9: 26,955,783 (GRCm39) |
|
probably null |
Het |
Nebl |
C |
A |
2: 17,439,740 (GRCm39) |
D178Y |
probably damaging |
Het |
Nedd1 |
T |
A |
10: 92,549,988 (GRCm39) |
N99I |
possibly damaging |
Het |
Nuak1 |
T |
C |
10: 84,211,209 (GRCm39) |
D293G |
possibly damaging |
Het |
Or5b123 |
A |
T |
19: 13,596,996 (GRCm39) |
I157F |
probably damaging |
Het |
Or5m9b |
T |
C |
2: 85,905,675 (GRCm39) |
M197T |
possibly damaging |
Het |
Palb2 |
A |
G |
7: 121,713,652 (GRCm39) |
V877A |
probably damaging |
Het |
Rassf6 |
C |
T |
5: 90,754,664 (GRCm39) |
V205I |
probably damaging |
Het |
Rbak |
A |
G |
5: 143,159,860 (GRCm39) |
Y398H |
probably damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,448,041 (GRCm39) |
|
probably benign |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Smpdl3a |
C |
A |
10: 57,685,181 (GRCm39) |
T317K |
probably damaging |
Het |
Speer4e1 |
C |
T |
5: 14,987,130 (GRCm39) |
V92M |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,047,605 (GRCm39) |
I4009V |
probably benign |
Het |
Tarbp1 |
G |
A |
8: 127,154,571 (GRCm39) |
L1474F |
probably damaging |
Het |
Tchh |
A |
G |
3: 93,351,535 (GRCm39) |
E325G |
unknown |
Het |
Trpc4 |
T |
C |
3: 54,198,761 (GRCm39) |
S562P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,567,409 (GRCm39) |
D27828G |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,089,105 (GRCm39) |
D258G |
probably benign |
Het |
Vmn1r215 |
A |
G |
13: 23,260,731 (GRCm39) |
H257R |
probably benign |
Het |
Vmn2r56 |
A |
C |
7: 12,444,954 (GRCm39) |
M433R |
probably benign |
Het |
Vmn2r76 |
C |
A |
7: 85,875,201 (GRCm39) |
C592F |
probably benign |
Het |
Zcchc8 |
C |
T |
5: 123,838,766 (GRCm39) |
V591I |
probably benign |
Het |
Znhit6 |
G |
C |
3: 145,282,409 (GRCm39) |
G96A |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCAACCTAAGTTAGCAAAAGG -3'
(R):5'- CTGGAGCCAGCATCACATTG -3'
Sequencing Primer
(F):5'- CCTAAGTTAGCAAAAGGTCTTACG -3'
(R):5'- CCCCTGTACTAATGAGCATAT -3'
|
Posted On |
2015-01-23 |