Incidental Mutation 'IGL02837:Muc19'
| ID |
391936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc19
|
| Ensembl Gene |
ENSMUSG00000044021 |
| Gene Name |
mucin 19 |
| Synonyms |
sld, apomucin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL02837 (G1)
|
| Quality Score |
184 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91722531-91832440 bp(+) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
T to A
at 91766850 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: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (56/57) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,268,473 (GRCm39) |
V786I |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,881,432 (GRCm39) |
N803S |
probably benign |
Het |
| Ago4 |
C |
G |
4: 126,391,093 (GRCm39) |
G730R |
possibly damaging |
Het |
| Amn |
T |
A |
12: 111,238,333 (GRCm39) |
M55K |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,055,102 (GRCm39) |
Y1334F |
probably damaging |
Het |
| Arl14ep |
A |
C |
2: 106,799,574 (GRCm39) |
L89R |
probably damaging |
Het |
| Bcam |
T |
G |
7: 19,498,111 (GRCm39) |
E304A |
probably damaging |
Het |
| Car10 |
A |
T |
11: 93,488,077 (GRCm39) |
Y258F |
probably damaging |
Het |
| Cerk |
T |
A |
15: 86,028,896 (GRCm39) |
K82* |
probably null |
Het |
| Chac2 |
T |
C |
11: 30,927,496 (GRCm39) |
N141S |
probably damaging |
Het |
| Clpx |
T |
G |
9: 65,231,541 (GRCm39) |
L556R |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,101,364 (GRCm39) |
I55V |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,500,139 (GRCm39) |
V650A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,269,546 (GRCm39) |
E895D |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
| Dpys |
A |
G |
15: 39,720,701 (GRCm39) |
S20P |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,470,471 (GRCm39) |
V1490I |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,109,044 (GRCm39) |
C357W |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,591,980 (GRCm39) |
D494V |
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,513 (GRCm39) |
D173E |
probably benign |
Het |
| Gm2666 |
G |
T |
1: 85,412,824 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3867 |
C |
A |
9: 36,169,096 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5436 |
A |
T |
12: 84,305,374 (GRCm39) |
|
noncoding transcript |
Het |
| Kit |
G |
A |
5: 75,799,668 (GRCm39) |
V467I |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,741,863 (GRCm39) |
V179A |
unknown |
Het |
| Lrp8 |
C |
A |
4: 107,718,478 (GRCm39) |
H693Q |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,517,605 (GRCm39) |
S75P |
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,013,806 (GRCm39) |
V1068L |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,028,008 (GRCm39) |
P304L |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 53,993,980 (GRCm39) |
V175A |
possibly damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,352,342 (GRCm39) |
H8Q |
probably benign |
Het |
| Ntsr2 |
G |
A |
12: 16,703,876 (GRCm39) |
V126M |
probably damaging |
Het |
| Odf2 |
A |
T |
2: 29,816,725 (GRCm39) |
T725S |
probably damaging |
Het |
| Or52e19b |
C |
T |
7: 103,032,822 (GRCm39) |
C129Y |
probably damaging |
Het |
| Or5h17 |
C |
T |
16: 58,820,909 (GRCm39) |
P287L |
probably damaging |
Het |
| Or9s13 |
T |
C |
1: 92,548,404 (GRCm39) |
Y259H |
possibly damaging |
Het |
| Pgr |
T |
C |
9: 8,946,639 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,603,562 (GRCm39) |
C249* |
probably null |
Het |
| Plcd3 |
C |
T |
11: 102,961,929 (GRCm39) |
V726M |
possibly damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,617 (GRCm39) |
L140P |
probably damaging |
Het |
| Prpf6 |
C |
A |
2: 181,264,056 (GRCm39) |
D239E |
probably damaging |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Rimbp2 |
G |
T |
5: 128,874,809 (GRCm39) |
Q268K |
probably damaging |
Het |
| Rps19-ps13 |
A |
T |
18: 40,859,447 (GRCm39) |
|
noncoding transcript |
Het |
| Sema4c |
C |
A |
1: 36,591,965 (GRCm39) |
G266V |
probably damaging |
Het |
| Sema4g |
T |
C |
19: 44,985,150 (GRCm39) |
F156S |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Speer4f1 |
G |
T |
5: 17,685,381 (GRCm39) |
L225F |
unknown |
Het |
| Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 144,995,568 (GRCm39) |
E497G |
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,261,863 (GRCm39) |
N631S |
probably damaging |
Het |
| Trim45 |
C |
T |
3: 100,838,943 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,949,731 (GRCm39) |
D445G |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAGTGCTTGTCTGCTCCTG -3'
(R):5'- TATAAGCTGGCCATCACCCC -3'
Sequencing Primer
(F):5'- GTGGGTACACTGGATGAAGCTTC -3'
(R):5'- AGCTTATCCCAGTGAGACAGGTTC -3'
|
| Posted On |
2016-06-08 |
Incidental Mutation