Incidental Mutation 'R9359:Gm10549'
ID |
708604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm10549
|
Ensembl Gene |
ENSMUSG00000073610 |
Gene Name |
predicted gene 10549 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R9359 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
33597216-33607763 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 33597375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 54
(P54S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095236
(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: P54S
|
SMART Domains |
Protein: ENSMUSP00000095236 Gene: ENSMUSG00000073610 AA Change: P54S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt4 |
C |
T |
2: 151,780,892 (GRCm39) |
T380M |
probably damaging |
Het |
Ankrd50 |
A |
T |
3: 38,537,172 (GRCm39) |
N60K |
probably damaging |
Het |
Atp6v0a4 |
G |
A |
6: 38,059,048 (GRCm39) |
T245I |
probably benign |
Het |
Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
Cyp2j13 |
T |
C |
4: 95,950,170 (GRCm39) |
D277G |
probably damaging |
Het |
Def8 |
A |
T |
8: 124,185,105 (GRCm39) |
I310F |
probably benign |
Het |
Dmtf1 |
A |
G |
5: 9,171,927 (GRCm39) |
L503S |
possibly damaging |
Het |
Dock1 |
T |
C |
7: 134,770,125 (GRCm39) |
V1795A |
probably benign |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Gabbr1 |
A |
G |
17: 37,381,605 (GRCm39) |
T790A |
probably damaging |
Het |
Glg1 |
C |
T |
8: 111,914,425 (GRCm39) |
R453Q |
probably benign |
Het |
Gpld1 |
G |
A |
13: 25,163,712 (GRCm39) |
V502I |
probably benign |
Het |
Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
Inhba |
A |
G |
13: 16,191,966 (GRCm39) |
H29R |
probably benign |
Het |
Insr |
G |
C |
8: 3,208,717 (GRCm39) |
P1248R |
probably damaging |
Het |
Ipcef1 |
C |
T |
10: 6,840,663 (GRCm39) |
D349N |
probably damaging |
Het |
Itga4 |
T |
A |
2: 79,156,004 (GRCm39) |
I990N |
possibly damaging |
Het |
Malrd1 |
T |
C |
2: 15,618,988 (GRCm39) |
V284A |
|
Het |
Maml2 |
C |
T |
9: 13,532,969 (GRCm39) |
Q728* |
probably null |
Het |
Mex3d |
A |
T |
10: 80,217,581 (GRCm39) |
N545K |
|
Het |
Mios |
T |
A |
6: 8,214,894 (GRCm39) |
V30E |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,449,060 (GRCm39) |
|
probably null |
Het |
Naxd |
A |
G |
8: 11,562,968 (GRCm39) |
K303E |
possibly damaging |
Het |
Or2w1 |
T |
C |
13: 21,317,865 (GRCm39) |
F307L |
probably benign |
Het |
Or4l1 |
T |
C |
14: 50,166,906 (GRCm39) |
T32A |
probably benign |
Het |
Or5a21 |
T |
A |
19: 12,310,803 (GRCm39) |
H139L |
possibly damaging |
Het |
Or9q2 |
C |
T |
19: 13,772,200 (GRCm39) |
M258I |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Pknox1 |
C |
T |
17: 31,822,229 (GRCm39) |
T332M |
possibly damaging |
Het |
Ptgdr |
A |
G |
14: 45,090,715 (GRCm39) |
S348P |
|
Het |
Ptpdc1 |
T |
A |
13: 48,740,030 (GRCm39) |
E467V |
probably benign |
Het |
Qsox1 |
A |
G |
1: 155,658,343 (GRCm39) |
S409P |
probably damaging |
Het |
Rfx4 |
A |
G |
10: 84,740,921 (GRCm39) |
T680A |
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,949,970 (GRCm39) |
T371A |
probably damaging |
Het |
Slc5a7 |
A |
T |
17: 54,583,669 (GRCm39) |
N540K |
probably benign |
Het |
Slco6c1 |
A |
T |
1: 96,990,248 (GRCm39) |
S664R |
possibly damaging |
Het |
Tbxa2r |
A |
G |
10: 81,168,958 (GRCm39) |
S216G |
probably damaging |
Het |
Tgm4 |
C |
A |
9: 122,881,837 (GRCm39) |
S344R |
probably damaging |
Het |
Thoc6 |
A |
G |
17: 23,887,823 (GRCm39) |
V328A |
possibly damaging |
Het |
Trim61 |
T |
A |
8: 65,467,228 (GRCm39) |
Q11L |
probably damaging |
Het |
Txndc2 |
G |
A |
17: 65,944,992 (GRCm39) |
T395I |
probably damaging |
Het |
Txndc9 |
T |
C |
1: 38,034,859 (GRCm39) |
E15G |
probably benign |
Het |
Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
Uspl1 |
G |
A |
5: 149,146,481 (GRCm39) |
V411M |
probably damaging |
Het |
Vcpip1 |
A |
G |
1: 9,816,049 (GRCm39) |
I778T |
possibly damaging |
Het |
Vps54 |
A |
G |
11: 21,242,108 (GRCm39) |
T408A |
probably benign |
Het |
Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
possibly 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 |
|
R6405: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 |
|
R9584:Gm10549
|
UTSW |
18 |
33,597,375 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAATAATAAACCTGCGGCCGG -3'
(R):5'- GGGCTGAGAACTTTGAAAGC -3'
Sequencing Primer
(F):5'- CGGGGCATCTGAGGGAAC -3'
(R):5'- TCTAGGCTCTAGCGTCTCCGG -3'
|
Posted On |
2022-04-18 |