Incidental Mutation 'R2473:Mucl2'
ID |
253241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mucl2
|
Ensembl Gene |
ENSMUSG00000036925 |
Gene Name |
mucin-like 2 |
Synonyms |
Spt1, Spt-1 |
MMRRC Submission |
040404-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.314)
|
Stock # |
R2473 (G1)
|
Quality Score |
203 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
103926121-103929578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 103927628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glutamine
at position 110
(E110Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037685]
[ENSMUST00000226584]
|
AlphaFold |
P02815 |
Predicted Effect |
unknown
Transcript: ENSMUST00000037685
AA Change: E110Q
|
SMART Domains |
Protein: ENSMUSP00000044814 Gene: ENSMUSG00000036925 AA Change: E110Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226584
AA Change: E110Q
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp8b4 |
T |
G |
2: 126,200,814 (GRCm39) |
K785Q |
possibly damaging |
Het |
Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,392,404 (GRCm39) |
I184F |
possibly damaging |
Het |
Ephb4 |
T |
A |
5: 137,363,962 (GRCm39) |
D611E |
probably benign |
Het |
Habp2 |
G |
A |
19: 56,276,464 (GRCm39) |
V13M |
possibly damaging |
Het |
Mamdc4 |
C |
A |
2: 25,456,344 (GRCm39) |
G713V |
probably damaging |
Het |
Marveld2 |
C |
T |
13: 100,733,829 (GRCm39) |
V269M |
probably damaging |
Het |
Mbd5 |
T |
A |
2: 49,169,353 (GRCm39) |
M1508K |
probably benign |
Het |
Mgp |
T |
C |
6: 136,850,162 (GRCm39) |
|
probably null |
Het |
Mxra8 |
T |
C |
4: 155,926,500 (GRCm39) |
F286S |
probably damaging |
Het |
Or2t46 |
A |
G |
11: 58,472,401 (GRCm39) |
T244A |
probably damaging |
Het |
Or4g16 |
T |
C |
2: 111,137,236 (GRCm39) |
S229P |
probably damaging |
Het |
Or52h9 |
T |
C |
7: 104,202,146 (GRCm39) |
Y7H |
possibly damaging |
Het |
Or5p70 |
C |
T |
7: 107,994,711 (GRCm39) |
A128V |
probably damaging |
Het |
Pax3 |
C |
T |
1: 78,099,227 (GRCm39) |
|
probably null |
Het |
Polm |
T |
C |
11: 5,779,881 (GRCm39) |
E339G |
possibly damaging |
Het |
Sec14l4 |
T |
A |
11: 3,993,359 (GRCm39) |
V218E |
probably benign |
Het |
Sf3b1 |
C |
T |
1: 55,038,785 (GRCm39) |
|
probably null |
Het |
Six4 |
A |
G |
12: 73,150,949 (GRCm39) |
V532A |
probably benign |
Het |
Slc35c1 |
T |
A |
2: 92,285,098 (GRCm39) |
D172V |
probably benign |
Het |
Ttc39a |
A |
T |
4: 109,299,436 (GRCm39) |
I428F |
probably damaging |
Het |
Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mucl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0164:Mucl2
|
UTSW |
15 |
103,929,445 (GRCm39) |
splice site |
probably null |
|
R1468:Mucl2
|
UTSW |
15 |
103,927,673 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1468:Mucl2
|
UTSW |
15 |
103,927,673 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1760:Mucl2
|
UTSW |
15 |
103,927,838 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2188:Mucl2
|
UTSW |
15 |
103,927,840 (GRCm39) |
missense |
probably damaging |
0.97 |
R3792:Mucl2
|
UTSW |
15 |
103,928,692 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5250:Mucl2
|
UTSW |
15 |
103,927,733 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5934:Mucl2
|
UTSW |
15 |
103,927,832 (GRCm39) |
missense |
probably benign |
0.27 |
R7313:Mucl2
|
UTSW |
15 |
103,929,445 (GRCm39) |
splice site |
probably null |
|
R7532:Mucl2
|
UTSW |
15 |
103,926,318 (GRCm39) |
missense |
unknown |
|
R7555:Mucl2
|
UTSW |
15 |
103,927,711 (GRCm39) |
missense |
probably benign |
0.03 |
R8952:Mucl2
|
UTSW |
15 |
103,929,445 (GRCm39) |
splice site |
probably null |
|
R8972:Mucl2
|
UTSW |
15 |
103,927,860 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9035:Mucl2
|
UTSW |
15 |
103,926,279 (GRCm39) |
missense |
unknown |
|
RF015:Mucl2
|
UTSW |
15 |
103,927,696 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGCCATGCTACCTGGAG -3'
(R):5'- TGGCTCTGAAACTCAGGCAG -3'
Sequencing Primer
(F):5'- ATGCTACCTGGAGACACTTTAC -3'
(R):5'- CTCTGAAACTCAGGCAGATAGTACTG -3'
|
Posted On |
2014-12-04 |