Incidental Mutation 'IGL03409:Gm1110'
ID |
421701 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm1110
|
Ensembl Gene |
ENSMUSG00000079644 |
Gene Name |
predicted gene 1110 |
Synonyms |
LOC382064 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL03409
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
26790863-26834407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 26807916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 290
(H290P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115261]
|
AlphaFold |
F6Y113 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115261
AA Change: H290P
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110916 Gene: ENSMUSG00000079644 AA Change: H290P
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
A |
T |
8: 124,691,762 (GRCm39) |
M401K |
possibly damaging |
Het |
Ablim3 |
T |
A |
18: 61,978,922 (GRCm39) |
H203L |
probably damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Aox1 |
T |
G |
1: 58,393,588 (GRCm39) |
D1249E |
possibly damaging |
Het |
Astn2 |
T |
C |
4: 65,353,423 (GRCm39) |
I1116V |
possibly damaging |
Het |
Atad3a |
T |
C |
4: 155,831,807 (GRCm39) |
D489G |
probably damaging |
Het |
Caln1 |
G |
T |
5: 130,646,719 (GRCm39) |
G52C |
probably damaging |
Het |
Clcn7 |
A |
G |
17: 25,374,359 (GRCm39) |
T467A |
probably damaging |
Het |
Col17a1 |
A |
T |
19: 47,654,979 (GRCm39) |
I599N |
possibly damaging |
Het |
Cul2 |
T |
A |
18: 3,429,593 (GRCm39) |
H547Q |
probably damaging |
Het |
Cxcl14 |
T |
C |
13: 56,440,320 (GRCm39) |
T80A |
probably damaging |
Het |
Dscaml1 |
T |
A |
9: 45,581,401 (GRCm39) |
Y407N |
probably damaging |
Het |
Edc4 |
T |
A |
8: 106,611,748 (GRCm39) |
I108N |
probably damaging |
Het |
Exoc2 |
T |
C |
13: 31,124,720 (GRCm39) |
|
probably benign |
Het |
Gm16223 |
T |
A |
5: 42,225,336 (GRCm39) |
W12R |
unknown |
Het |
Herc2 |
C |
A |
7: 55,878,317 (GRCm39) |
H4623Q |
probably damaging |
Het |
Igkv18-36 |
A |
T |
6: 69,969,589 (GRCm39) |
H68Q |
possibly damaging |
Het |
Kif7 |
T |
C |
7: 79,357,301 (GRCm39) |
E635G |
probably benign |
Het |
Or2t47 |
T |
C |
11: 58,442,388 (GRCm39) |
K226E |
probably benign |
Het |
Or4c109 |
A |
T |
2: 88,817,931 (GRCm39) |
I205N |
possibly damaging |
Het |
Or52z13 |
T |
A |
7: 103,246,574 (GRCm39) |
M17K |
possibly damaging |
Het |
Or9m1b |
A |
T |
2: 87,836,239 (GRCm39) |
N285K |
probably damaging |
Het |
Pam |
C |
A |
1: 97,792,054 (GRCm39) |
A456S |
probably benign |
Het |
Pgap3 |
T |
C |
11: 98,289,764 (GRCm39) |
T76A |
possibly damaging |
Het |
Pkd2 |
C |
A |
5: 104,637,215 (GRCm39) |
Y609* |
probably null |
Het |
Plcg2 |
A |
G |
8: 118,310,234 (GRCm39) |
D362G |
probably damaging |
Het |
Polr3h |
C |
A |
15: 81,801,595 (GRCm39) |
A94S |
probably benign |
Het |
Rhod |
T |
C |
19: 4,482,186 (GRCm39) |
D76G |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,320,129 (GRCm39) |
V670A |
probably damaging |
Het |
Rpap3 |
G |
A |
15: 97,579,620 (GRCm39) |
T464M |
possibly damaging |
Het |
Rufy1 |
T |
A |
11: 50,297,310 (GRCm39) |
I381L |
probably benign |
Het |
Slc1a4 |
T |
C |
11: 20,256,506 (GRCm39) |
T442A |
probably damaging |
Het |
Slc9b1 |
T |
C |
3: 135,100,670 (GRCm39) |
S472P |
probably damaging |
Het |
Tmtc3 |
T |
C |
10: 100,287,294 (GRCm39) |
T501A |
possibly damaging |
Het |
Tnpo3 |
C |
A |
6: 29,555,181 (GRCm39) |
D801Y |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,179,193 (GRCm39) |
Y111C |
probably damaging |
Het |
Ubr4 |
A |
T |
4: 139,127,240 (GRCm39) |
R543* |
probably null |
Het |
Vmn1r74 |
T |
G |
7: 11,581,240 (GRCm39) |
L180R |
probably damaging |
Het |
Vps45 |
T |
G |
3: 95,960,401 (GRCm39) |
E80A |
probably benign |
Het |
Zfp677 |
T |
C |
17: 21,617,107 (GRCm39) |
Y55H |
probably damaging |
Het |
Zng1 |
A |
G |
19: 24,900,130 (GRCm39) |
V289A |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |