Incidental Mutation 'R3078:Gm14085'
| ID |
265274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14085
|
| Ensembl Gene |
ENSMUSG00000079071 |
| Gene Name |
predicted gene 14085 |
| Synonyms |
|
| MMRRC Submission |
040568-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
122484941-122528040 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122514414 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 167
(L167P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110521]
|
| AlphaFold |
A2AWR5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110521
AA Change: L167P
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: L167P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
149 |
166 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
180 |
253 |
2.3e-28 |
PFAM |
|
Pfam:Gate
|
260 |
360 |
1.7e-10 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
363 |
587 |
4.6e-70 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
93% (42/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931409K22Rik |
G |
C |
5: 24,546,666 (GRCm38) |
T528S |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,267,605 (GRCm38) |
I1981V |
probably benign |
Het |
| Actr3b |
A |
G |
5: 25,822,442 (GRCm38) |
Y37C |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,129,105 (GRCm38) |
I248F |
probably benign |
Het |
| Alg10b |
T |
C |
15: 90,227,936 (GRCm38) |
S328P |
probably benign |
Het |
| C5ar2 |
G |
A |
7: 16,237,424 (GRCm38) |
R193C |
probably damaging |
Het |
| Cct8 |
A |
G |
16: 87,488,877 (GRCm38) |
V231A |
possibly damaging |
Het |
| Clca4a |
C |
T |
3: 144,968,253 (GRCm38) |
M240I |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,048,927 (GRCm38) |
I3520N |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,845,754 (GRCm38) |
|
probably benign |
Het |
| Dynlrb1 |
T |
A |
2: 155,249,945 (GRCm38) |
I99N |
probably damaging |
Het |
| Ebf4 |
G |
A |
2: 130,306,499 (GRCm38) |
D77N |
probably damaging |
Het |
| Fam196a |
A |
G |
7: 134,918,021 (GRCm38) |
I260T |
probably benign |
Het |
| Fbxw10 |
C |
T |
11: 62,867,513 (GRCm38) |
|
probably benign |
Het |
| Gm10801 |
T |
C |
2: 98,663,852 (GRCm38) |
I113T |
probably damaging |
Het |
| Gm5499 |
T |
C |
17: 87,078,886 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9913 |
A |
G |
2: 125,506,539 (GRCm38) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,137,243 (GRCm38) |
N1612S |
probably benign |
Het |
| Ifnar2 |
T |
C |
16: 91,386,001 (GRCm38) |
S53P |
possibly damaging |
Het |
| Inpp5j |
T |
A |
11: 3,503,124 (GRCm38) |
|
probably null |
Het |
| Kif14 |
T |
G |
1: 136,519,645 (GRCm38) |
I1396S |
possibly damaging |
Het |
| Med28 |
A |
G |
5: 45,522,478 (GRCm38) |
T68A |
possibly damaging |
Het |
| Meis1 |
A |
T |
11: 19,011,254 (GRCm38) |
N206K |
probably benign |
Het |
| Mfsd14a |
T |
C |
3: 116,647,917 (GRCm38) |
|
probably benign |
Het |
| Mnt |
G |
C |
11: 74,843,110 (GRCm38) |
|
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,458,028 (GRCm38) |
Y413C |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 31,967,184 (GRCm38) |
D1599G |
probably benign |
Het |
| Myoz1 |
T |
C |
14: 20,653,617 (GRCm38) |
|
probably benign |
Het |
| Nhsl2 |
C |
T |
X: 102,077,595 (GRCm38) |
R62W |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,182 (GRCm38) |
Y306N |
probably damaging |
Het |
| Nrxn3 |
T |
G |
12: 89,260,416 (GRCm38) |
C274G |
probably damaging |
Het |
| Olfr204 |
A |
T |
16: 59,314,726 (GRCm38) |
M227K |
probably benign |
Het |
| Olfr389 |
G |
A |
11: 73,776,640 (GRCm38) |
P229L |
possibly damaging |
Het |
| Phldb2 |
T |
C |
16: 45,825,010 (GRCm38) |
T403A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,569,805 (GRCm38) |
I643V |
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,955,016 (GRCm38) |
I154V |
possibly damaging |
Het |
| Ugcg |
T |
G |
4: 59,213,922 (GRCm38) |
V168G |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,134,632 (GRCm38) |
I221V |
probably benign |
Het |
| Wdr93 |
T |
C |
7: 79,752,493 (GRCm38) |
I180T |
possibly damaging |
Het |
| Whamm |
G |
C |
7: 81,571,784 (GRCm38) |
G155R |
probably damaging |
Het |
| Wnt5a |
T |
A |
14: 28,513,183 (GRCm38) |
Y41* |
probably null |
Het |
|
| Other mutations in Gm14085 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Gm14085
|
APN |
2 |
122,517,046 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01160:Gm14085
|
APN |
2 |
122,524,796 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01838:Gm14085
|
APN |
2 |
122,517,983 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL01895:Gm14085
|
APN |
2 |
122,525,091 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL02999:Gm14085
|
APN |
2 |
122,514,514 (GRCm38) |
splice site |
probably benign |
|
|
Wilted
|
UTSW |
2 |
122,523,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
K2124:Gm14085
|
UTSW |
2 |
122,525,153 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0084:Gm14085
|
UTSW |
2 |
122,522,833 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0092:Gm14085
|
UTSW |
2 |
122,517,597 (GRCm38) |
splice site |
probably benign |
|
|
R0127:Gm14085
|
UTSW |
2 |
122,517,069 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0200:Gm14085
|
UTSW |
2 |
122,527,447 (GRCm38) |
makesense |
probably null |
|
|
R0276:Gm14085
|
UTSW |
2 |
122,521,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0309:Gm14085
|
UTSW |
2 |
122,517,553 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0403:Gm14085
|
UTSW |
2 |
122,521,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0600:Gm14085
|
UTSW |
2 |
122,514,398 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0612:Gm14085
|
UTSW |
2 |
122,521,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1676:Gm14085
|
UTSW |
2 |
122,521,859 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1801:Gm14085
|
UTSW |
2 |
122,521,652 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R1986:Gm14085
|
UTSW |
2 |
122,527,429 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2050:Gm14085
|
UTSW |
2 |
122,522,868 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4075:Gm14085
|
UTSW |
2 |
122,514,411 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4096:Gm14085
|
UTSW |
2 |
122,522,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4744:Gm14085
|
UTSW |
2 |
122,522,805 (GRCm38) |
nonsense |
probably null |
|
|
R4796:Gm14085
|
UTSW |
2 |
122,514,459 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5033:Gm14085
|
UTSW |
2 |
122,522,914 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5069:Gm14085
|
UTSW |
2 |
122,494,373 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5288:Gm14085
|
UTSW |
2 |
122,522,778 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5385:Gm14085
|
UTSW |
2 |
122,522,778 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5386:Gm14085
|
UTSW |
2 |
122,522,778 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5442:Gm14085
|
UTSW |
2 |
122,486,869 (GRCm38) |
missense |
probably benign |
|
|
R5795:Gm14085
|
UTSW |
2 |
122,517,994 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6258:Gm14085
|
UTSW |
2 |
122,523,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6260:Gm14085
|
UTSW |
2 |
122,523,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6383:Gm14085
|
UTSW |
2 |
122,524,807 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7226:Gm14085
|
UTSW |
2 |
122,522,532 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7574:Gm14085
|
UTSW |
2 |
122,522,844 (GRCm38) |
missense |
not run |
|
|
R7633:Gm14085
|
UTSW |
2 |
122,486,680 (GRCm38) |
missense |
probably null |
0.05 |
|
R7705:Gm14085
|
UTSW |
2 |
122,521,629 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7726:Gm14085
|
UTSW |
2 |
122,486,733 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7998:Gm14085
|
UTSW |
2 |
122,494,358 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8269:Gm14085
|
UTSW |
2 |
122,521,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8337:Gm14085
|
UTSW |
2 |
122,525,136 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8546:Gm14085
|
UTSW |
2 |
122,522,754 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8817:Gm14085
|
UTSW |
2 |
122,518,507 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8931:Gm14085
|
UTSW |
2 |
122,518,502 (GRCm38) |
missense |
|
|
|
R9070:Gm14085
|
UTSW |
2 |
122,521,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9542:Gm14085
|
UTSW |
2 |
122,494,341 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9702:Gm14085
|
UTSW |
2 |
122,523,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9782:Gm14085
|
UTSW |
2 |
122,521,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCATTCTCAAGGTTCCTCTCTG -3'
(R):5'- GAGCTGTCAGGAGAAGATTCCG -3'
Sequencing Primer
(F):5'- GTTCCTCTCTGTGTAATGAATAAGCC -3'
(R):5'- TTATGATGAGTACCTGACATGGGCAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation