Incidental Mutation 'R5089:Gm1110'
| ID |
387641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm1110
|
| Ensembl Gene |
ENSMUSG00000079644 |
| Gene Name |
predicted gene 1110 |
| Synonyms |
LOC382064 |
| MMRRC Submission |
042678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
26790863-26834407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26793683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 515
(D515V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115261]
|
| AlphaFold |
F6Y113 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115261
AA Change: D515V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110916
Gene: ENSMUSG00000079644
AA Change: D515V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
55 |
368 |
2e-93 |
PFAM |
|
Pfam:Glyco_hydro_42
|
70 |
229 |
1e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217197
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
C |
8: 117,698,672 (GRCm39) |
N145S |
possibly damaging |
Het |
| Acp2 |
T |
C |
2: 91,042,267 (GRCm39) |
|
probably benign |
Het |
| Adgrf2 |
G |
A |
17: 43,020,988 (GRCm39) |
A612V |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,651 (GRCm39) |
D2676E |
probably benign |
Het |
| Cct3 |
T |
G |
3: 88,208,150 (GRCm39) |
M46R |
probably damaging |
Het |
| Cdc123 |
T |
C |
2: 5,809,811 (GRCm39) |
D200G |
probably benign |
Het |
| Cdh9 |
T |
A |
15: 16,778,362 (GRCm39) |
F59Y |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,551,198 (GRCm39) |
E349G |
probably damaging |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,758,679 (GRCm39) |
H381R |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,681,519 (GRCm39) |
D991G |
probably damaging |
Het |
| Dhx16 |
A |
T |
17: 36,194,981 (GRCm39) |
M503L |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 63,007,248 (GRCm39) |
T650A |
probably benign |
Het |
| Etfa |
T |
A |
9: 55,396,150 (GRCm39) |
K139* |
probably null |
Het |
| Flnc |
T |
C |
6: 29,447,812 (GRCm39) |
I1205T |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 38,870,875 (GRCm39) |
C32S |
probably damaging |
Het |
| Gm7676 |
T |
C |
8: 13,946,401 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr157 |
T |
C |
4: 150,186,750 (GRCm39) |
S293P |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,914,902 (GRCm39) |
D810G |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,876,942 (GRCm39) |
H1184R |
probably benign |
Het |
| Hoxc5 |
A |
T |
15: 102,922,487 (GRCm39) |
|
probably benign |
Het |
| Iah1 |
C |
T |
12: 21,373,309 (GRCm39) |
S196L |
possibly damaging |
Het |
| Il5 |
C |
T |
11: 53,612,655 (GRCm39) |
T55I |
possibly damaging |
Het |
| Kras |
T |
C |
6: 145,170,869 (GRCm39) |
K169E |
probably benign |
Het |
| Larp1 |
C |
A |
11: 57,938,693 (GRCm39) |
T492K |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,328 (GRCm39) |
D203G |
probably damaging |
Het |
| Lpcat2 |
G |
A |
8: 93,606,071 (GRCm39) |
V241M |
probably damaging |
Het |
| Mpeg1 |
G |
A |
19: 12,440,361 (GRCm39) |
M606I |
probably benign |
Het |
| Ms4a1 |
G |
A |
19: 11,236,176 (GRCm39) |
P4S |
probably benign |
Het |
| Nat10 |
A |
T |
2: 103,587,488 (GRCm39) |
|
probably benign |
Het |
| Ncaph2 |
T |
A |
15: 89,240,148 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
A |
8: 108,078,070 (GRCm39) |
V403D |
probably damaging |
Het |
| Or2y10 |
T |
A |
11: 49,455,240 (GRCm39) |
M164K |
possibly damaging |
Het |
| Or4c109 |
A |
G |
2: 88,818,516 (GRCm39) |
F10S |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,557,576 (GRCm39) |
H65R |
probably damaging |
Het |
| Phf20 |
C |
A |
2: 156,144,782 (GRCm39) |
H797N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,455,283 (GRCm39) |
S4015T |
probably benign |
Het |
| Prdm5 |
C |
T |
6: 65,833,074 (GRCm39) |
H148Y |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,400,054 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,129,625 (GRCm39) |
|
probably null |
Het |
| Serpinb6b |
G |
A |
13: 33,162,133 (GRCm39) |
E192K |
probably benign |
Het |
| Shfl |
A |
T |
9: 20,780,212 (GRCm39) |
M1L |
probably benign |
Het |
| Skor1 |
A |
G |
9: 63,053,205 (GRCm39) |
S216P |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,296,364 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
T |
C |
10: 75,751,013 (GRCm39) |
T74A |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,945,198 (GRCm39) |
Y107* |
probably null |
Het |
| Spmip5 |
A |
T |
19: 58,774,678 (GRCm39) |
L176H |
probably damaging |
Het |
| Stk25 |
T |
A |
1: 93,552,330 (GRCm39) |
K350M |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,355,444 (GRCm39) |
W379* |
probably null |
Het |
| Taco1 |
A |
T |
11: 105,960,437 (GRCm39) |
E126V |
probably benign |
Het |
| Tbc1d12 |
T |
A |
19: 38,905,232 (GRCm39) |
L649* |
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,744,120 (GRCm39) |
G238R |
probably damaging |
Het |
| Yy1 |
C |
A |
12: 108,759,663 (GRCm39) |
Q109K |
probably damaging |
Het |
|
| Other mutations in Gm1110 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00591:Gm1110
|
APN |
9 |
26,792,170 (GRCm39) |
nonsense |
probably null |
|
|
IGL01089:Gm1110
|
APN |
9 |
26,793,156 (GRCm39) |
missense |
probably benign |
|
|
IGL01631:Gm1110
|
APN |
9 |
26,809,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02008:Gm1110
|
APN |
9 |
26,794,526 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02331:Gm1110
|
APN |
9 |
26,824,583 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02335:Gm1110
|
APN |
9 |
26,793,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02550:Gm1110
|
APN |
9 |
26,793,130 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02614:Gm1110
|
APN |
9 |
26,832,010 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03409:Gm1110
|
APN |
9 |
26,807,916 (GRCm39) |
missense |
probably benign |
0.21 |
|
PIT4458001:Gm1110
|
UTSW |
9 |
26,792,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0189:Gm1110
|
UTSW |
9 |
26,794,514 (GRCm39) |
missense |
probably null |
0.99 |
|
R0271:Gm1110
|
UTSW |
9 |
26,831,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1034:Gm1110
|
UTSW |
9 |
26,832,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1229:Gm1110
|
UTSW |
9 |
26,793,102 (GRCm39) |
missense |
probably benign |
|
|
R1355:Gm1110
|
UTSW |
9 |
26,795,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1566:Gm1110
|
UTSW |
9 |
26,792,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Gm1110
|
UTSW |
9 |
26,792,422 (GRCm39) |
splice site |
probably benign |
|
|
R1916:Gm1110
|
UTSW |
9 |
26,800,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Gm1110
|
UTSW |
9 |
26,805,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2214:Gm1110
|
UTSW |
9 |
26,813,786 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2567:Gm1110
|
UTSW |
9 |
26,831,992 (GRCm39) |
missense |
probably benign |
|
|
R2967:Gm1110
|
UTSW |
9 |
26,792,339 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4271:Gm1110
|
UTSW |
9 |
26,806,944 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4683:Gm1110
|
UTSW |
9 |
26,831,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4945:Gm1110
|
UTSW |
9 |
26,831,891 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5015:Gm1110
|
UTSW |
9 |
26,793,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5225:Gm1110
|
UTSW |
9 |
26,813,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Gm1110
|
UTSW |
9 |
26,804,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5395:Gm1110
|
UTSW |
9 |
26,800,928 (GRCm39) |
missense |
probably benign |
|
|
R5783:Gm1110
|
UTSW |
9 |
26,793,632 (GRCm39) |
missense |
probably benign |
|
|
R6045:Gm1110
|
UTSW |
9 |
26,794,505 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6245:Gm1110
|
UTSW |
9 |
26,832,043 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6357:Gm1110
|
UTSW |
9 |
26,825,424 (GRCm39) |
splice site |
probably null |
|
|
R6863:Gm1110
|
UTSW |
9 |
26,792,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Gm1110
|
UTSW |
9 |
26,825,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7454:Gm1110
|
UTSW |
9 |
26,831,945 (GRCm39) |
missense |
probably benign |
|
|
R7555:Gm1110
|
UTSW |
9 |
26,804,924 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7579:Gm1110
|
UTSW |
9 |
26,795,122 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7990:Gm1110
|
UTSW |
9 |
26,792,137 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8062:Gm1110
|
UTSW |
9 |
26,793,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8108:Gm1110
|
UTSW |
9 |
26,831,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Gm1110
|
UTSW |
9 |
26,813,719 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8354:Gm1110
|
UTSW |
9 |
26,794,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8354:Gm1110
|
UTSW |
9 |
26,794,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8454:Gm1110
|
UTSW |
9 |
26,794,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8454:Gm1110
|
UTSW |
9 |
26,794,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8494:Gm1110
|
UTSW |
9 |
26,792,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8978:Gm1110
|
UTSW |
9 |
26,807,095 (GRCm39) |
splice site |
probably benign |
|
|
R9321:Gm1110
|
UTSW |
9 |
26,831,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9513:Gm1110
|
UTSW |
9 |
26,795,083 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9545:Gm1110
|
UTSW |
9 |
26,800,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Gm1110
|
UTSW |
9 |
26,800,894 (GRCm39) |
nonsense |
probably null |
|
|
RF002:Gm1110
|
UTSW |
9 |
26,831,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Gm1110
|
UTSW |
9 |
26,805,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Gm1110
|
UTSW |
9 |
26,824,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTTCCAGCTCTGCATG -3'
(R):5'- TCAGCACCAATGAGGGCAAG -3'
Sequencing Primer
(F):5'- GCATGTTCACCTCTTTGTGTTATG -3'
(R):5'- CCAATGAGGGCAAGGGAGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation