Incidental Mutation 'R8494:Gm1110'
| ID |
658187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm1110
|
| Ensembl Gene |
ENSMUSG00000079644 |
| Gene Name |
predicted gene 1110 |
| Synonyms |
LOC382064 |
| MMRRC Submission |
067936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R8494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
26790863-26834407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26792154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 622
(D622V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115261]
|
| AlphaFold |
F6Y113 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115261
AA Change: D622V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110916
Gene: ENSMUSG00000079644
AA Change: D622V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,327,821 (GRCm39) |
M1420L |
probably benign |
Het |
| Adamts14 |
T |
A |
10: 61,038,708 (GRCm39) |
H934L |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,240,221 (GRCm39) |
C661R |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,376,455 (GRCm39) |
D629G |
probably benign |
Het |
| Anapc16 |
A |
T |
10: 59,832,340 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
C |
1: 72,697,953 (GRCm39) |
I758V |
probably benign |
Het |
| Apc2 |
G |
T |
10: 80,150,313 (GRCm39) |
R1760L |
probably damaging |
Het |
| C1qb |
T |
C |
4: 136,608,115 (GRCm39) |
T83A |
probably benign |
Het |
| Canx |
T |
A |
11: 50,202,609 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
A |
16: 52,025,003 (GRCm39) |
I966K |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,144,788 (GRCm39) |
Q1444L |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,759,312 (GRCm39) |
P1781S |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,345,977 (GRCm39) |
N2439T |
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,673,271 (GRCm39) |
Y981N |
probably benign |
Het |
| Esrp2 |
C |
T |
8: 106,861,350 (GRCm39) |
V150M |
probably damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,982,252 (GRCm39) |
F235V |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,519,164 (GRCm39) |
Y125* |
probably null |
Het |
| Gpcpd1 |
A |
G |
2: 132,386,355 (GRCm39) |
V341A |
probably damaging |
Het |
| Gpx3 |
G |
A |
11: 54,793,846 (GRCm39) |
V19I |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,347,810 (GRCm39) |
I160M |
probably damaging |
Het |
| Igkv3-4 |
G |
T |
6: 70,649,147 (GRCm39) |
V49F |
probably damaging |
Het |
| Kcng1 |
A |
G |
2: 168,105,018 (GRCm39) |
V276A |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,360,145 (GRCm39) |
V364D |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,902,341 (GRCm39) |
I182V |
probably benign |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,501,856 (GRCm39) |
T243M |
possibly damaging |
Het |
| Micall1 |
T |
C |
15: 79,005,080 (GRCm39) |
L184P |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,133,593 (GRCm39) |
C217S |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,377,546 (GRCm39) |
D469G |
probably damaging |
Het |
| Mst1r |
T |
G |
9: 107,791,718 (GRCm39) |
W799G |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,362,291 (GRCm39) |
V950I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,871 (GRCm39) |
D1296G |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,095,880 (GRCm39) |
M298K |
probably null |
Het |
| Parg |
T |
A |
14: 31,930,978 (GRCm39) |
H199Q |
probably benign |
Het |
| Pcnx3 |
C |
A |
19: 5,725,404 (GRCm39) |
D1170Y |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,250,144 (GRCm39) |
V487E |
probably damaging |
Het |
| Selp |
T |
G |
1: 163,957,835 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
T |
C |
8: 106,981,982 (GRCm39) |
E626G |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,190,265 (GRCm39) |
L188P |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,241 (GRCm39) |
I543V |
possibly damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,779 (GRCm39) |
*245W |
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,383,506 (GRCm39) |
R1336G |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,422,594 (GRCm39) |
W185R |
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 |
|
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 |
|
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'- AAACACAGTGGGACCATCAG -3'
(R):5'- GAAACTGTCTTTGTCCCTGGC -3'
Sequencing Primer
(F):5'- CAAGCAGATTTCTGAGTTCAAGGCC -3'
(R):5'- GGCTCCTGGCTTCAACCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation