Incidental Mutation 'R4683:Gm1110'
ID |
350118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm1110
|
Ensembl Gene |
ENSMUSG00000079644 |
Gene Name |
predicted gene 1110 |
Synonyms |
LOC382064 |
MMRRC Submission |
041935-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R4683 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
26790863-26834407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26831890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 87
(M87T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115261]
|
AlphaFold |
F6Y113 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115261
AA Change: M87T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110916 Gene: ENSMUSG00000079644 AA Change: M87T
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr3 |
T |
C |
1: 90,141,709 (GRCm39) |
V56A |
probably damaging |
Het |
Acyp1 |
A |
G |
12: 85,325,717 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,459,963 (GRCm39) |
K532I |
probably damaging |
Het |
Ahrr |
T |
A |
13: 74,372,885 (GRCm39) |
|
silent |
Het |
Asz1 |
T |
C |
6: 18,055,541 (GRCm39) |
|
probably benign |
Het |
AW554918 |
T |
C |
18: 25,472,852 (GRCm39) |
Y219H |
probably benign |
Het |
Ccno |
C |
A |
13: 113,125,543 (GRCm39) |
|
probably null |
Het |
Cdh17 |
A |
T |
4: 11,817,036 (GRCm39) |
N816Y |
possibly damaging |
Het |
Clca4a |
C |
T |
3: 144,660,701 (GRCm39) |
V708I |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,701,179 (GRCm39) |
Y2579F |
unknown |
Het |
Col6a4 |
A |
G |
9: 105,957,329 (GRCm39) |
V165A |
probably benign |
Het |
Csf1r |
T |
A |
18: 61,257,983 (GRCm39) |
C651S |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,126,985 (GRCm39) |
D315G |
probably null |
Het |
Def6 |
A |
G |
17: 28,436,609 (GRCm39) |
D91G |
probably damaging |
Het |
Dmxl1 |
T |
G |
18: 50,011,088 (GRCm39) |
S1082A |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,349,768 (GRCm39) |
Y2392N |
probably damaging |
Het |
Dsg4 |
T |
C |
18: 20,594,466 (GRCm39) |
S532P |
probably benign |
Het |
Efr3a |
C |
A |
15: 65,691,650 (GRCm39) |
S126R |
probably damaging |
Het |
Gab1 |
A |
C |
8: 81,515,261 (GRCm39) |
H352Q |
probably benign |
Het |
Greb1 |
C |
T |
12: 16,761,774 (GRCm39) |
M535I |
possibly damaging |
Het |
Greb1l |
T |
A |
18: 10,529,563 (GRCm39) |
|
probably null |
Het |
Gucy2d |
T |
C |
7: 98,102,650 (GRCm39) |
C487R |
probably benign |
Het |
H1f7 |
A |
T |
15: 98,154,921 (GRCm39) |
I76N |
probably damaging |
Het |
Lrrc2 |
A |
T |
9: 110,791,614 (GRCm39) |
H122L |
possibly damaging |
Het |
Mrps22 |
A |
T |
9: 98,480,359 (GRCm39) |
|
probably null |
Het |
Mxd3 |
T |
C |
13: 55,473,613 (GRCm39) |
T202A |
probably benign |
Het |
Neb |
T |
C |
2: 52,134,074 (GRCm39) |
H3303R |
possibly damaging |
Het |
Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
Or13a19 |
T |
C |
7: 139,902,681 (GRCm39) |
L23P |
probably benign |
Het |
Or14j6 |
A |
G |
17: 38,215,039 (GRCm39) |
T201A |
probably benign |
Het |
Pard3b |
T |
C |
1: 62,255,675 (GRCm39) |
Y629H |
probably benign |
Het |
Pcnx1 |
A |
G |
12: 82,033,446 (GRCm39) |
D1781G |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
Pcsk9 |
A |
T |
4: 106,316,092 (GRCm39) |
I117N |
possibly damaging |
Het |
Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
Pfkfb2 |
T |
A |
1: 130,634,221 (GRCm39) |
|
probably null |
Het |
Pi4ka |
T |
C |
16: 17,114,901 (GRCm39) |
E1456G |
possibly damaging |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Sh2b2 |
C |
T |
5: 136,260,574 (GRCm39) |
C214Y |
probably damaging |
Het |
Slc52a2 |
C |
A |
15: 76,424,433 (GRCm39) |
P224T |
probably damaging |
Het |
Slf2 |
C |
G |
19: 44,923,920 (GRCm39) |
R245G |
probably benign |
Het |
Sox5 |
T |
C |
6: 143,779,193 (GRCm39) |
S648G |
probably damaging |
Het |
Stk36 |
T |
A |
1: 74,673,344 (GRCm39) |
I1079N |
probably benign |
Het |
Stxbp3 |
T |
C |
3: 108,708,188 (GRCm39) |
D371G |
probably damaging |
Het |
Trnau1ap |
A |
T |
4: 132,049,063 (GRCm39) |
Y47N |
probably damaging |
Het |
Ubr5 |
C |
T |
15: 38,038,211 (GRCm39) |
R316H |
probably damaging |
Het |
Vmn1r230 |
C |
T |
17: 21,067,515 (GRCm39) |
R235C |
probably benign |
Het |
Wnt10a |
C |
T |
1: 74,842,296 (GRCm39) |
H93Y |
unknown |
Het |
Zfp1005 |
T |
A |
2: 150,108,390 (GRCm39) |
H50Q |
possibly damaging |
Het |
Zfp52 |
A |
G |
17: 21,781,769 (GRCm39) |
D539G |
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 |
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 |
|
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 |
PCR Primer
(F):5'- TGCTCCTTTAGGTAATCCTGAC -3'
(R):5'- TGCTGAACACTCATTCATCCTG -3'
Sequencing Primer
(F):5'- GGTAATCCTGACTAATAAGTTGGC -3'
(R):5'- CCTGTGCTATAGAAATCATATGCCC -3'
|
Posted On |
2015-10-08 |