Incidental Mutation 'R0271:Gm1110'
ID |
35304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm1110
|
Ensembl Gene |
ENSMUSG00000079644 |
Gene Name |
predicted gene 1110 |
Synonyms |
LOC382064 |
MMRRC Submission |
038497-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R0271 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
26790863-26834407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26831962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 63
(F63S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115261]
|
AlphaFold |
F6Y113 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115261
AA Change: F63S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000110916 Gene: ENSMUSG00000079644 AA Change: F63S
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: ENSMUST00000214461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217197
|
Meta Mutation Damage Score |
0.9445 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.6%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
A |
G |
11: 70,507,474 (GRCm39) |
Q173R |
possibly damaging |
Het |
Ampd2 |
C |
T |
3: 107,994,032 (GRCm39) |
|
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,402,658 (GRCm39) |
S1467G |
possibly damaging |
Het |
Arhgap31 |
T |
G |
16: 38,422,872 (GRCm39) |
S1065R |
possibly damaging |
Het |
Arhgef19 |
G |
T |
4: 140,977,918 (GRCm39) |
M542I |
probably benign |
Het |
C7 |
T |
C |
15: 5,044,862 (GRCm39) |
D392G |
possibly damaging |
Het |
Ccdc138 |
G |
A |
10: 58,411,645 (GRCm39) |
C671Y |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,838,347 (GRCm39) |
S498P |
possibly damaging |
Het |
Cpb2 |
T |
A |
14: 75,495,149 (GRCm39) |
|
probably null |
Het |
Cwc22 |
A |
C |
2: 77,751,202 (GRCm39) |
N389K |
probably benign |
Het |
Dgkb |
T |
A |
12: 38,278,025 (GRCm39) |
L550Q |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,665,811 (GRCm39) |
R950G |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,798,949 (GRCm39) |
V437A |
possibly damaging |
Het |
Fanca |
T |
C |
8: 123,999,180 (GRCm39) |
|
probably benign |
Het |
Fgd2 |
C |
G |
17: 29,585,982 (GRCm39) |
L189V |
possibly damaging |
Het |
Foxred2 |
A |
C |
15: 77,827,590 (GRCm39) |
S590A |
possibly damaging |
Het |
Gm14496 |
A |
T |
2: 181,637,747 (GRCm39) |
M274L |
probably benign |
Het |
Gm7008 |
T |
A |
12: 40,273,559 (GRCm39) |
|
probably benign |
Het |
Gm9922 |
T |
A |
14: 101,966,989 (GRCm39) |
|
probably benign |
Het |
Gtf3c3 |
A |
T |
1: 54,467,971 (GRCm39) |
M222K |
possibly damaging |
Het |
Hspa1b |
A |
G |
17: 35,177,808 (GRCm39) |
V59A |
probably benign |
Het |
Impg1 |
T |
C |
9: 80,294,161 (GRCm39) |
|
probably benign |
Het |
Khdc4 |
T |
C |
3: 88,593,636 (GRCm39) |
|
probably benign |
Het |
Lpcat4 |
T |
A |
2: 112,073,590 (GRCm39) |
|
probably null |
Het |
Mipol1 |
T |
C |
12: 57,507,740 (GRCm39) |
|
probably benign |
Het |
Mrpl37 |
C |
A |
4: 106,923,658 (GRCm39) |
R112L |
possibly damaging |
Het |
Myo18b |
T |
C |
5: 112,957,551 (GRCm39) |
N1471D |
possibly damaging |
Het |
Nes |
G |
A |
3: 87,885,949 (GRCm39) |
E1359K |
possibly damaging |
Het |
Nipbl |
A |
T |
15: 8,391,221 (GRCm39) |
V251E |
possibly damaging |
Het |
Nlrp1b |
T |
C |
11: 71,052,591 (GRCm39) |
I946V |
possibly damaging |
Het |
Obscn |
T |
G |
11: 58,947,568 (GRCm39) |
|
probably benign |
Het |
Or10q1b |
A |
T |
19: 13,682,499 (GRCm39) |
T103S |
probably benign |
Het |
Or4a2 |
T |
A |
2: 89,248,502 (GRCm39) |
Y85F |
probably benign |
Het |
Or51q1 |
T |
A |
7: 103,628,837 (GRCm39) |
I146K |
possibly damaging |
Het |
Or5m12 |
A |
T |
2: 85,734,633 (GRCm39) |
M255K |
possibly damaging |
Het |
Pck2 |
T |
C |
14: 55,782,041 (GRCm39) |
|
probably null |
Het |
Pcsk9 |
A |
G |
4: 106,306,246 (GRCm39) |
|
probably benign |
Het |
Phyhd1 |
A |
T |
2: 30,159,834 (GRCm39) |
Q56L |
probably benign |
Het |
Plxnc1 |
C |
T |
10: 94,673,780 (GRCm39) |
G1001S |
probably null |
Het |
Prss52 |
T |
C |
14: 64,351,127 (GRCm39) |
V304A |
probably benign |
Het |
Prss55 |
C |
T |
14: 64,313,056 (GRCm39) |
G276D |
probably benign |
Het |
Pzp |
A |
T |
6: 128,496,477 (GRCm39) |
Y252N |
probably damaging |
Het |
Rad1 |
T |
C |
15: 10,490,543 (GRCm39) |
|
probably null |
Het |
Ripply3 |
A |
T |
16: 94,136,616 (GRCm39) |
E92D |
possibly damaging |
Het |
Rpp30 |
T |
A |
19: 36,081,803 (GRCm39) |
D255E |
probably benign |
Het |
Rsad1 |
T |
C |
11: 94,439,290 (GRCm39) |
|
probably benign |
Het |
Serpini2 |
A |
G |
3: 75,153,885 (GRCm39) |
M358T |
probably damaging |
Het |
Slc35a1 |
T |
A |
4: 34,664,125 (GRCm39) |
E331V |
probably benign |
Het |
Slc38a7 |
A |
G |
8: 96,572,506 (GRCm39) |
F179L |
probably damaging |
Het |
Stmn4 |
C |
T |
14: 66,593,732 (GRCm39) |
Q42* |
probably null |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tab2 |
G |
A |
10: 7,794,922 (GRCm39) |
A520V |
probably benign |
Het |
Tcp10a |
A |
G |
17: 7,598,555 (GRCm39) |
I162M |
probably benign |
Het |
Tmprss13 |
A |
G |
9: 45,244,986 (GRCm39) |
|
probably benign |
Het |
Tnfrsf14 |
A |
G |
4: 155,011,054 (GRCm39) |
|
probably null |
Het |
Tpx2 |
A |
G |
2: 152,709,287 (GRCm39) |
|
probably benign |
Het |
Vmn2r105 |
T |
A |
17: 20,454,965 (GRCm39) |
N57I |
probably damaging |
Het |
Wars1 |
C |
T |
12: 108,841,119 (GRCm39) |
V220I |
probably benign |
Het |
Washc1 |
T |
A |
17: 66,423,714 (GRCm39) |
D212E |
possibly damaging |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Wdr43 |
A |
G |
17: 71,933,820 (GRCm39) |
D139G |
probably benign |
Het |
Zfp235 |
A |
T |
7: 23,836,556 (GRCm39) |
H34L |
possibly damaging |
Het |
Zkscan16 |
G |
A |
4: 58,952,391 (GRCm39) |
V230I |
probably benign |
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 |
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 |
R5089:Gm1110
|
UTSW |
9 |
26,793,683 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
|
Posted On |
2013-05-09 |