Incidental Mutation 'R6405:Gm10549'
ID |
516277 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm10549
|
Ensembl Gene |
ENSMUSG00000073610 |
Gene Name |
predicted gene 10549 |
Synonyms |
|
MMRRC Submission |
044550-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R6405 (G1)
|
Quality Score |
98.0078 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
33597216-33607763 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 33597358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051087]
[ENSMUST00000097634]
[ENSMUST00000168890]
[ENSMUST00000171533]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051087
|
SMART Domains |
Protein: ENSMUSP00000058132 Gene: ENSMUSG00000042834
Domain | Start | End | E-Value | Type |
Pfam:Alveol-reg_P311
|
1 |
68 |
2.6e-41 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000097634
AA Change: A48D
|
SMART Domains |
Protein: ENSMUSP00000095236 Gene: ENSMUSG00000073610 AA Change: A48D
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
79 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168890
|
SMART Domains |
Protein: ENSMUSP00000130297 Gene: ENSMUSG00000042834
Domain | Start | End | E-Value | Type |
Pfam:Alveol-reg_P311
|
1 |
68 |
2.6e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171533
|
SMART Domains |
Protein: ENSMUSP00000127787 Gene: ENSMUSG00000042834
Domain | Start | End | E-Value | Type |
Pfam:Alveol-reg_P311
|
1 |
68 |
2.6e-41 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,669,742 (GRCm39) |
V769A |
probably damaging |
Het |
Abca4 |
A |
G |
3: 121,967,311 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
A |
T |
12: 112,739,771 (GRCm39) |
S628T |
probably damaging |
Het |
Ano8 |
T |
C |
8: 71,935,674 (GRCm39) |
T315A |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,159,784 (GRCm39) |
V267E |
probably benign |
Het |
Asnsd1 |
A |
T |
1: 53,387,154 (GRCm39) |
S158T |
probably damaging |
Het |
Asxl2 |
T |
A |
12: 3,543,758 (GRCm39) |
V309E |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Ccdc110 |
T |
A |
8: 46,394,734 (GRCm39) |
Y208* |
probably null |
Het |
Cfap157 |
G |
T |
2: 32,671,408 (GRCm39) |
Q133K |
probably damaging |
Het |
Cfap53 |
A |
G |
18: 74,492,677 (GRCm39) |
E467G |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,683,767 (GRCm39) |
I1688M |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,799,230 (GRCm39) |
L319Q |
probably damaging |
Het |
Dchs2 |
A |
G |
3: 83,261,570 (GRCm39) |
I2613V |
probably benign |
Het |
Dhx35 |
T |
A |
2: 158,636,839 (GRCm39) |
W11R |
probably damaging |
Het |
Dscam |
C |
T |
16: 96,479,625 (GRCm39) |
G1174D |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Greb1l |
T |
A |
18: 10,501,076 (GRCm39) |
I402K |
probably benign |
Het |
Hectd3 |
A |
T |
4: 116,857,821 (GRCm39) |
M585L |
probably benign |
Het |
Inpp5k |
T |
C |
11: 75,524,004 (GRCm39) |
|
probably null |
Het |
Lalba |
T |
G |
15: 98,378,632 (GRCm39) |
|
probably null |
Het |
Lgals9 |
C |
A |
11: 78,862,211 (GRCm39) |
V125L |
probably benign |
Het |
Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
Or2g25 |
A |
G |
17: 37,971,014 (GRCm39) |
I70T |
possibly damaging |
Het |
Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Rab4b |
T |
A |
7: 26,872,379 (GRCm39) |
D94V |
probably damaging |
Het |
Rhpn2 |
A |
G |
7: 35,071,864 (GRCm39) |
E243G |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,415,994 (GRCm39) |
D1706G |
probably damaging |
Het |
Slc29a3 |
A |
T |
10: 60,551,805 (GRCm39) |
I413N |
probably damaging |
Het |
Slc7a9 |
T |
C |
7: 35,154,064 (GRCm39) |
L229P |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 36,755,686 (GRCm39) |
H104R |
probably benign |
Het |
Tmem87a |
A |
G |
2: 120,210,231 (GRCm39) |
Y241H |
probably damaging |
Het |
Trpv5 |
G |
T |
6: 41,651,602 (GRCm39) |
T192K |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,134,595 (GRCm39) |
V2189A |
probably damaging |
Het |
Vmn2r106 |
A |
C |
17: 20,499,361 (GRCm39) |
S183R |
probably benign |
Het |
Vmn2r112 |
G |
T |
17: 22,837,216 (GRCm39) |
C559F |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,481,324 (GRCm39) |
D1031G |
possibly damaging |
Het |
Wnt5b |
T |
C |
6: 119,410,457 (GRCm39) |
S328G |
probably benign |
Het |
Zcchc7 |
T |
C |
4: 44,926,032 (GRCm39) |
Y344H |
probably damaging |
Het |
|
Other mutations in Gm10549 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02648:Gm10549
|
APN |
18 |
33,597,303 (GRCm39) |
unclassified |
probably benign |
|
R0374:Gm10549
|
UTSW |
18 |
33,597,235 (GRCm39) |
unclassified |
probably benign |
|
R0668:Gm10549
|
UTSW |
18 |
33,603,903 (GRCm39) |
missense |
unknown |
|
R1806:Gm10549
|
UTSW |
18 |
33,603,841 (GRCm39) |
missense |
unknown |
|
R4214:Gm10549
|
UTSW |
18 |
33,597,530 (GRCm39) |
splice site |
probably null |
|
R4826:Gm10549
|
UTSW |
18 |
33,603,838 (GRCm39) |
missense |
unknown |
|
R5747:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R5748:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R5766:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R5796:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6101:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6129:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6130:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6218:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6219:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6220:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6283:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6298:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6299:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6309:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6321:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6322:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6327:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6337:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6420:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6492:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6494:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R6505:Gm10549
|
UTSW |
18 |
33,597,358 (GRCm39) |
unclassified |
probably benign |
|
R7173:Gm10549
|
UTSW |
18 |
33,597,462 (GRCm39) |
missense |
unknown |
|
R7724:Gm10549
|
UTSW |
18 |
33,603,912 (GRCm39) |
nonsense |
probably null |
|
R7829:Gm10549
|
UTSW |
18 |
33,597,463 (GRCm39) |
unclassified |
probably benign |
|
R9356:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
R9358:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
R9359:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
R9584:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTAATAATAAACCTGCGGCCG -3'
(R):5'- GGGCTGAGAACTTTGAAAGC -3'
Sequencing Primer
(F):5'- CGGGGCATCTGAGGGAAC -3'
(R):5'- TAGCGTCTCCGGTTGCAC -3'
|
Posted On |
2018-05-04 |