Incidental Mutation 'R5225:Gm1110'
| ID |
402564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm1110
|
| Ensembl Gene |
ENSMUSG00000079644 |
| Gene Name |
predicted gene 1110 |
| Synonyms |
LOC382064 |
| MMRRC Submission |
042798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
26790863-26834407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26813774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 202
(N202D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115261]
|
| AlphaFold |
F6Y113 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115261
AA Change: N202D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110916
Gene: ENSMUSG00000079644
AA Change: N202D
| 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 |
0.9536 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
C |
T |
17: 9,226,839 (GRCm39) |
R465* |
probably null |
Het |
| Abcg3 |
A |
T |
5: 105,114,649 (GRCm39) |
D289E |
probably damaging |
Het |
| Ablim2 |
G |
T |
5: 36,024,115 (GRCm39) |
|
probably null |
Het |
| Acp1 |
A |
T |
12: 30,955,078 (GRCm39) |
V36D |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,449,348 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
G |
A |
12: 52,933,329 (GRCm39) |
V274I |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,609,715 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
G |
A |
14: 70,717,605 (GRCm39) |
R789W |
probably damaging |
Het |
| Catspere2 |
A |
T |
1: 177,976,474 (GRCm39) |
|
probably benign |
Het |
| Cfhr2 |
T |
A |
1: 139,749,520 (GRCm39) |
Y154F |
possibly damaging |
Het |
| Cilp2 |
T |
C |
8: 70,336,015 (GRCm39) |
Y358C |
probably damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,584,516 (GRCm39) |
K513* |
probably null |
Het |
| Dennd4a |
G |
T |
9: 64,796,210 (GRCm39) |
K745N |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,655,085 (GRCm39) |
S542T |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,696,465 (GRCm39) |
I893F |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,353,130 (GRCm39) |
E2761V |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,708,341 (GRCm39) |
T40A |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,520,936 (GRCm39) |
D296G |
possibly damaging |
Het |
| Fance |
C |
T |
17: 28,534,589 (GRCm39) |
|
probably benign |
Het |
| Gaa |
A |
G |
11: 119,167,669 (GRCm39) |
D149G |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,522 (GRCm39) |
M47T |
possibly damaging |
Het |
| Gm7535 |
T |
C |
17: 18,131,809 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
T |
A |
1: 59,601,859 (GRCm39) |
M491K |
probably benign |
Het |
| Gmnc |
A |
G |
16: 26,782,695 (GRCm39) |
V27A |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,440,915 (GRCm39) |
T1167A |
possibly damaging |
Het |
| Klrg1 |
T |
A |
6: 122,248,331 (GRCm39) |
*189C |
probably null |
Het |
| Lime1 |
T |
A |
2: 181,024,640 (GRCm39) |
M98K |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,391,965 (GRCm39) |
A2867S |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,908,735 (GRCm39) |
S669N |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,976,456 (GRCm39) |
N520S |
probably damaging |
Het |
| Mrpl48 |
A |
C |
7: 100,198,535 (GRCm39) |
L206V |
probably damaging |
Het |
| Nagpa |
C |
T |
16: 5,021,596 (GRCm39) |
A52T |
probably benign |
Het |
| Or1o3 |
A |
G |
17: 37,573,919 (GRCm39) |
V212A |
probably benign |
Het |
| Or4c3 |
T |
G |
2: 89,851,528 (GRCm39) |
D294A |
probably benign |
Het |
| Orai2 |
A |
G |
5: 136,190,355 (GRCm39) |
S71P |
probably damaging |
Het |
| Pcbp1 |
A |
T |
6: 86,502,209 (GRCm39) |
I230N |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,138,986 (GRCm39) |
L349P |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,613,011 (GRCm39) |
V657A |
probably benign |
Het |
| Prdm15 |
G |
T |
16: 97,609,875 (GRCm39) |
H590N |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,079,874 (GRCm39) |
I442M |
probably damaging |
Het |
| Pygm |
C |
A |
19: 6,439,494 (GRCm39) |
D279E |
probably benign |
Het |
| Rrn3 |
T |
A |
16: 13,610,798 (GRCm39) |
|
probably null |
Het |
| Sass6 |
T |
C |
3: 116,407,702 (GRCm39) |
S273P |
possibly damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,270 (GRCm39) |
M116V |
probably benign |
Het |
| Sdc3 |
G |
A |
4: 130,546,087 (GRCm39) |
V55I |
unknown |
Het |
| Serpinb8 |
T |
A |
1: 107,525,201 (GRCm39) |
M1K |
probably null |
Het |
| Slc24a5 |
T |
C |
2: 124,927,739 (GRCm39) |
I346T |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,117,846 (GRCm39) |
I335N |
probably damaging |
Het |
| Snapc2 |
T |
A |
8: 4,305,299 (GRCm39) |
V147E |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,322,784 (GRCm39) |
S56P |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
T |
17: 35,040,400 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,911,702 (GRCm39) |
E692G |
probably benign |
Het |
| Tet1 |
C |
T |
10: 62,674,450 (GRCm39) |
V1209I |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,539,406 (GRCm39) |
T1639A |
probably benign |
Het |
| Tmem135 |
G |
T |
7: 88,845,335 (GRCm39) |
Y165* |
probably null |
Het |
| Tmprss6 |
T |
C |
15: 78,336,707 (GRCm39) |
T398A |
probably damaging |
Het |
| Ube4a |
C |
T |
9: 44,851,258 (GRCm39) |
|
probably null |
Het |
| Vmn1r227 |
T |
C |
17: 20,955,499 (GRCm39) |
|
noncoding transcript |
Het |
| Wdhd1 |
T |
C |
14: 47,488,273 (GRCm39) |
S745G |
probably benign |
Het |
| Xylt1 |
A |
G |
7: 117,191,263 (GRCm39) |
H353R |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,980 (GRCm39) |
T539A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,091 (GRCm39) |
F510I |
possibly 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 |
|
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'- TTCTAGGCCACTATCTAGAACATAACC -3'
(R):5'- ACAGATATTTGTGAGCTGCTATGTG -3'
Sequencing Primer
(F):5'- ATCCATGATAAAAGAGGACCCTC -3'
(R):5'- CTATGTGGGTGCTGGGAATTGAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation