Incidental Mutation 'R2293:Muc5ac'
ID |
245078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc5ac
|
Ensembl Gene |
ENSMUSG00000037974 |
Gene Name |
mucin 5, subtypes A and C, tracheobronchial/gastric |
Synonyms |
MGM, 2210005L13Rik |
MMRRC Submission |
040292-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2293 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
141788972-141819231 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141807199 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1416
(T1416A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122353
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041924]
[ENSMUST00000155534]
[ENSMUST00000163321]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041924
AA Change: T1415A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000039699 Gene: ENSMUSG00000037974 AA Change: T1415A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
VWD
|
69 |
226 |
4.19e-30 |
SMART |
C8
|
258 |
334 |
1.34e-11 |
SMART |
Pfam:TIL
|
337 |
393 |
1.6e-14 |
PFAM |
VWC
|
395 |
462 |
8.6e-18 |
SMART |
VWD
|
421 |
585 |
1.55e-33 |
SMART |
C8
|
622 |
696 |
8.42e-36 |
SMART |
Pfam:TIL
|
702 |
759 |
6.1e-9 |
PFAM |
VWC
|
761 |
825 |
6.75e-1 |
SMART |
VWC
|
863 |
905 |
4.06e-1 |
SMART |
VWD
|
890 |
1050 |
1.51e-45 |
SMART |
C8
|
1086 |
1160 |
2.78e-36 |
SMART |
low complexity region
|
1315 |
1330 |
N/A |
INTRINSIC |
low complexity region
|
1333 |
1366 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1387 |
N/A |
INTRINSIC |
Pfam:Mucin2_WxxW
|
1394 |
1482 |
2.3e-25 |
PFAM |
low complexity region
|
1521 |
1532 |
N/A |
INTRINSIC |
low complexity region
|
1536 |
1563 |
N/A |
INTRINSIC |
low complexity region
|
1578 |
1595 |
N/A |
INTRINSIC |
Pfam:Mucin2_WxxW
|
1604 |
1692 |
2.2e-27 |
PFAM |
Pfam:Mucin2_WxxW
|
1765 |
1857 |
8.6e-27 |
PFAM |
low complexity region
|
1875 |
1895 |
N/A |
INTRINSIC |
low complexity region
|
1949 |
1968 |
N/A |
INTRINSIC |
VWD
|
2030 |
2199 |
4.17e-48 |
SMART |
C8
|
2242 |
2311 |
3.95e-9 |
SMART |
VWC
|
2376 |
2439 |
1.04e-11 |
SMART |
VWC
|
2479 |
2543 |
9.31e-5 |
SMART |
CT
|
2625 |
2711 |
3.43e-32 |
SMART |
low complexity region
|
2720 |
2733 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155534
AA Change: T1416A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122353 Gene: ENSMUSG00000037974 AA Change: T1416A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
VWD
|
69 |
226 |
4.19e-30 |
SMART |
C8
|
258 |
334 |
1.34e-11 |
SMART |
Pfam:TIL
|
337 |
393 |
9.6e-15 |
PFAM |
VWC
|
395 |
437 |
3.54e-1 |
SMART |
VWD
|
422 |
586 |
2.35e-33 |
SMART |
C8
|
623 |
697 |
8.42e-36 |
SMART |
Pfam:TIL
|
703 |
760 |
3.6e-9 |
PFAM |
VWC
|
762 |
826 |
6.75e-1 |
SMART |
VWC
|
864 |
906 |
4.06e-1 |
SMART |
VWD
|
891 |
1051 |
1.51e-45 |
SMART |
C8
|
1087 |
1161 |
2.78e-36 |
SMART |
low complexity region
|
1316 |
1331 |
N/A |
INTRINSIC |
low complexity region
|
1334 |
1367 |
N/A |
INTRINSIC |
low complexity region
|
1372 |
1388 |
N/A |
INTRINSIC |
Pfam:Mucin2_WxxW
|
1395 |
1483 |
1.3e-25 |
PFAM |
low complexity region
|
1522 |
1533 |
N/A |
INTRINSIC |
low complexity region
|
1537 |
1564 |
N/A |
INTRINSIC |
low complexity region
|
1579 |
1596 |
N/A |
INTRINSIC |
Pfam:Mucin2_WxxW
|
1605 |
1693 |
1.3e-27 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163321
AA Change: T1415A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000131681 Gene: ENSMUSG00000037974 AA Change: T1415A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
VWD
|
69 |
226 |
4.19e-30 |
SMART |
C8
|
258 |
334 |
1.34e-11 |
SMART |
Pfam:TIL
|
337 |
393 |
7.9e-15 |
PFAM |
VWC
|
395 |
462 |
8.6e-18 |
SMART |
VWD
|
421 |
585 |
1.55e-33 |
SMART |
C8
|
622 |
696 |
8.42e-36 |
SMART |
Pfam:TIL
|
702 |
759 |
1.9e-9 |
PFAM |
VWC
|
761 |
825 |
6.75e-1 |
SMART |
VWC
|
863 |
905 |
4.06e-1 |
SMART |
VWD
|
890 |
1050 |
1.51e-45 |
SMART |
C8
|
1086 |
1160 |
2.78e-36 |
SMART |
low complexity region
|
1315 |
1330 |
N/A |
INTRINSIC |
low complexity region
|
1333 |
1366 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1387 |
N/A |
INTRINSIC |
Pfam:Mucin2_WxxW
|
1394 |
1481 |
1.1e-23 |
PFAM |
low complexity region
|
1521 |
1532 |
N/A |
INTRINSIC |
low complexity region
|
1536 |
1563 |
N/A |
INTRINSIC |
low complexity region
|
1578 |
1595 |
N/A |
INTRINSIC |
Pfam:Mucin2_WxxW
|
1604 |
1691 |
1.1e-25 |
PFAM |
Pfam:Mucin2_WxxW
|
1765 |
1856 |
6.3e-24 |
PFAM |
low complexity region
|
1875 |
1895 |
N/A |
INTRINSIC |
low complexity region
|
1949 |
1968 |
N/A |
INTRINSIC |
VWD
|
2030 |
2199 |
4.17e-48 |
SMART |
C8
|
2242 |
2311 |
3.95e-9 |
SMART |
VWC
|
2376 |
2439 |
1.04e-11 |
SMART |
VWC
|
2479 |
2543 |
9.31e-5 |
SMART |
CT
|
2625 |
2711 |
3.43e-32 |
SMART |
low complexity region
|
2720 |
2733 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to T. muris infection with persistent worm burden, goblet cell hyperplasia, and increased serum IFN-gamma despite a normal TH2-type immune response. A portion of mice show corneal opacity and poor tear quality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano9 |
T |
C |
7: 141,102,515 |
N640S |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,221,937 |
I143N |
probably damaging |
Het |
Arhgef11 |
C |
T |
3: 87,727,990 |
R869C |
probably damaging |
Het |
Bcl6 |
T |
C |
16: 23,977,609 |
N23D |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,560,534 |
F2939L |
possibly damaging |
Het |
Bsn |
C |
T |
9: 108,113,067 |
A1829T |
possibly damaging |
Het |
Cyp2j6 |
T |
A |
4: 96,529,433 |
T318S |
possibly damaging |
Het |
Dlg5 |
A |
C |
14: 24,158,112 |
S1009A |
probably benign |
Het |
Dlx6 |
A |
G |
6: 6,867,246 |
Y283C |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,819,221 |
Y3550H |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,966,369 |
S1553G |
probably damaging |
Het |
Ice1 |
C |
A |
13: 70,614,957 |
D193Y |
probably damaging |
Het |
Mdga2 |
A |
T |
12: 66,568,985 |
L547* |
probably null |
Het |
Mgat4a |
C |
A |
1: 37,452,592 |
R215L |
probably damaging |
Het |
Msantd2 |
A |
G |
9: 37,489,804 |
T69A |
probably damaging |
Het |
Nup214 |
T |
C |
2: 32,026,875 |
S1181P |
probably benign |
Het |
Pip5k1c |
A |
G |
10: 81,314,084 |
E42G |
possibly damaging |
Het |
Slc12a5 |
A |
G |
2: 164,992,330 |
E757G |
probably benign |
Het |
Slc16a14 |
A |
T |
1: 84,912,843 |
M247K |
probably benign |
Het |
Slc35b2 |
T |
A |
17: 45,567,141 |
V398E |
probably damaging |
Het |
Slc44a5 |
C |
A |
3: 154,240,297 |
L156I |
probably benign |
Het |
Trmt11 |
G |
C |
10: 30,547,748 |
P387R |
probably damaging |
Het |
|
Other mutations in Muc5ac |
|
Predicted Primers |
PCR Primer
(F):5'- CGACAACCAGCAGCATATTG -3'
(R):5'- TATCACATGGGTCGTCTGGG -3'
Sequencing Primer
(F):5'- CAGCATATTGTCTGTGAAGAGCCC -3'
(R):5'- TAGTTGTCACAGAGCCCTGACAG -3'
|
Posted On |
2014-10-30 |