Incidental Mutation 'R5856:Gm19965'
| ID |
454892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm19965
|
| Ensembl Gene |
ENSMUSG00000094429 |
| Gene Name |
predicted gene, 19965 |
| Synonyms |
|
| MMRRC Submission |
043230-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5856 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
116730713-116751140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116749579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 420
(D420G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179777]
|
| AlphaFold |
J3QNY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179777
AA Change: D420G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137019
Gene: ENSMUSG00000094429
AA Change: D420G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
1.5e-36 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Adgrf5 |
A |
G |
17: 43,757,011 (GRCm39) |
T497A |
probably benign |
Het |
| Ano5 |
T |
C |
7: 51,235,074 (GRCm39) |
I669T |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,664,116 (GRCm39) |
N722K |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,407,255 (GRCm39) |
I1161K |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,252,805 (GRCm39) |
T714A |
possibly damaging |
Het |
| BC051665 |
T |
A |
13: 60,932,314 (GRCm39) |
M92L |
probably benign |
Het |
| Car3 |
G |
A |
3: 14,936,701 (GRCm39) |
V255M |
probably damaging |
Het |
| Cnot11 |
C |
A |
1: 39,576,534 (GRCm39) |
F179L |
probably benign |
Het |
| Dctn1 |
A |
G |
6: 83,174,847 (GRCm39) |
Y1013C |
probably damaging |
Het |
| Gm5444 |
A |
G |
13: 4,821,683 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
A |
T |
8: 111,268,474 (GRCm39) |
D2946V |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,292,641 (GRCm39) |
R119C |
probably damaging |
Het |
| Ighm |
A |
T |
12: 113,385,222 (GRCm39) |
L246Q |
unknown |
Het |
| Itpr3 |
A |
G |
17: 27,325,379 (GRCm39) |
E1324G |
probably damaging |
Het |
| Loxl4 |
G |
T |
19: 42,583,805 (GRCm39) |
Q749K |
possibly damaging |
Het |
| Muc2 |
C |
A |
7: 141,299,381 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,023,840 (GRCm39) |
T1505A |
probably benign |
Het |
| Nsmce2 |
A |
G |
15: 59,250,792 (GRCm39) |
E21G |
probably damaging |
Het |
| Or13c3 |
T |
A |
4: 52,856,516 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,928,254 (GRCm39) |
I6F |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,471,724 (GRCm39) |
I375T |
probably benign |
Het |
| Pou2f1 |
C |
T |
1: 165,742,699 (GRCm39) |
A65T |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,570,620 (GRCm39) |
N271Y |
possibly damaging |
Het |
| Sema5b |
T |
G |
16: 35,466,756 (GRCm39) |
Y219* |
probably null |
Het |
| Slc35f3 |
G |
T |
8: 127,047,819 (GRCm39) |
R53L |
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,964,029 (GRCm39) |
V465A |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,083,797 (GRCm39) |
I446V |
possibly damaging |
Het |
| Slf1 |
A |
T |
13: 77,254,206 (GRCm39) |
D204E |
possibly damaging |
Het |
| Sox5 |
T |
A |
6: 144,155,088 (GRCm39) |
T3S |
probably damaging |
Het |
| Srr |
G |
A |
11: 74,803,838 (GRCm39) |
R40C |
possibly damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,501 (GRCm39) |
H150L |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,192,401 (GRCm39) |
S678P |
probably benign |
Het |
| Tmem11 |
T |
C |
11: 60,755,684 (GRCm39) |
K183E |
probably damaging |
Het |
| Upf1 |
T |
C |
8: 70,787,412 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,748,674 (GRCm39) |
|
probably benign |
Het |
| Zfp638 |
C |
T |
6: 83,954,047 (GRCm39) |
S1384L |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Gm19965 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0993:Gm19965
|
UTSW |
1 |
116,749,555 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1016:Gm19965
|
UTSW |
1 |
116,749,031 (GRCm39) |
nonsense |
probably null |
|
|
R1173:Gm19965
|
UTSW |
1 |
116,748,550 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Gm19965
|
UTSW |
1 |
116,748,550 (GRCm39) |
splice site |
probably benign |
|
|
R1335:Gm19965
|
UTSW |
1 |
116,732,349 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1773:Gm19965
|
UTSW |
1 |
116,748,989 (GRCm39) |
nonsense |
probably null |
|
|
R1802:Gm19965
|
UTSW |
1 |
116,748,633 (GRCm39) |
nonsense |
probably null |
|
|
R2884:Gm19965
|
UTSW |
1 |
116,749,313 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3435:Gm19965
|
UTSW |
1 |
116,749,353 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4072:Gm19965
|
UTSW |
1 |
116,748,801 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4585:Gm19965
|
UTSW |
1 |
116,749,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4801:Gm19965
|
UTSW |
1 |
116,749,626 (GRCm39) |
missense |
probably benign |
|
|
R4802:Gm19965
|
UTSW |
1 |
116,749,626 (GRCm39) |
missense |
probably benign |
|
|
R5328:Gm19965
|
UTSW |
1 |
116,749,148 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5960:Gm19965
|
UTSW |
1 |
116,749,201 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6185:Gm19965
|
UTSW |
1 |
116,749,003 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6297:Gm19965
|
UTSW |
1 |
116,750,410 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6374:Gm19965
|
UTSW |
1 |
116,750,021 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6811:Gm19965
|
UTSW |
1 |
116,731,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Gm19965
|
UTSW |
1 |
116,748,609 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7076:Gm19965
|
UTSW |
1 |
116,749,005 (GRCm39) |
missense |
|
|
|
R7162:Gm19965
|
UTSW |
1 |
116,750,095 (GRCm39) |
missense |
unknown |
|
|
R7290:Gm19965
|
UTSW |
1 |
116,748,921 (GRCm39) |
missense |
|
|
|
R7473:Gm19965
|
UTSW |
1 |
116,749,602 (GRCm39) |
missense |
unknown |
|
|
R7643:Gm19965
|
UTSW |
1 |
116,749,959 (GRCm39) |
missense |
unknown |
|
|
R7919:Gm19965
|
UTSW |
1 |
116,749,850 (GRCm39) |
nonsense |
probably null |
|
|
R8187:Gm19965
|
UTSW |
1 |
116,749,532 (GRCm39) |
nonsense |
probably null |
|
|
R8306:Gm19965
|
UTSW |
1 |
116,749,515 (GRCm39) |
missense |
|
|
|
R8477:Gm19965
|
UTSW |
1 |
116,730,854 (GRCm39) |
start gained |
probably benign |
|
|
R8751:Gm19965
|
UTSW |
1 |
116,749,867 (GRCm39) |
missense |
unknown |
|
|
R8876:Gm19965
|
UTSW |
1 |
116,749,776 (GRCm39) |
missense |
unknown |
|
|
R9151:Gm19965
|
UTSW |
1 |
116,748,942 (GRCm39) |
missense |
|
|
|
R9389:Gm19965
|
UTSW |
1 |
116,749,566 (GRCm39) |
missense |
|
|
|
R9444:Gm19965
|
UTSW |
1 |
116,732,393 (GRCm39) |
missense |
|
|
|
R9696:Gm19965
|
UTSW |
1 |
116,749,210 (GRCm39) |
missense |
|
|
|
R9696:Gm19965
|
UTSW |
1 |
116,730,838 (GRCm39) |
start gained |
probably benign |
|
|
Z1088:Gm19965
|
UTSW |
1 |
116,732,330 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTCTTCTTTGCAACAGC -3'
(R):5'- GTGGACTGTGTAAAAGATTTTCCAC -3'
Sequencing Primer
(F):5'- TTGCAACAGCAAACCATAGAG -3'
(R):5'- GGCAAACTTTAAGACTTGAGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation