Incidental Mutation 'R1016:Gm19965'
| ID |
96253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm19965
|
| Ensembl Gene |
ENSMUSG00000094429 |
| Gene Name |
predicted gene, 19965 |
| Synonyms |
|
| MMRRC Submission |
039120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R1016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
116730713-116751140 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 116749031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 237
(C237*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179777]
|
| AlphaFold |
J3QNY8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000179777
AA Change: C237*
|
| SMART Domains |
Protein: ENSMUSP00000137019
Gene: ENSMUSG00000094429
AA Change: C237*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
1.5e-36 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam20 |
T |
A |
7: 19,710,227 (GRCm39) |
H6Q |
probably null |
Het |
| Clstn1 |
T |
C |
4: 149,731,286 (GRCm39) |
I866T |
probably benign |
Het |
| Cntnap1 |
T |
C |
11: 101,068,333 (GRCm39) |
V86A |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,844,769 (GRCm39) |
Y351* |
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2j12 |
C |
T |
4: 96,001,102 (GRCm39) |
|
probably null |
Het |
| Dmrt2 |
A |
T |
19: 25,652,938 (GRCm39) |
K183N |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,337,195 (GRCm39) |
|
probably benign |
Het |
| Fbxo40 |
G |
A |
16: 36,789,539 (GRCm39) |
Q524* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,686,691 (GRCm39) |
|
probably null |
Het |
| Hpf1 |
A |
G |
8: 61,348,678 (GRCm39) |
Y131C |
possibly damaging |
Het |
| Mdh1 |
A |
G |
11: 21,509,769 (GRCm39) |
L202P |
probably benign |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,503,063 (GRCm39) |
V784A |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,242,786 (GRCm39) |
I159T |
possibly damaging |
Het |
| Nans |
T |
C |
4: 46,500,716 (GRCm39) |
Y203H |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,295 (GRCm39) |
C709Y |
probably damaging |
Het |
| Or8b36 |
T |
C |
9: 37,937,987 (GRCm39) |
V295A |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,660 (GRCm39) |
Y192C |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,832 (GRCm39) |
N118D |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,442 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,135 (GRCm39) |
T454A |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,000,973 (GRCm39) |
L1021P |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,643,142 (GRCm39) |
I364V |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,071,582 (GRCm39) |
I396M |
probably damaging |
Het |
| Sgcb |
A |
C |
5: 73,797,183 (GRCm39) |
H192Q |
probably benign |
Het |
| Slc4a9 |
C |
A |
18: 36,664,478 (GRCm39) |
H379N |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,715,729 (GRCm39) |
D22G |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,897,167 (GRCm39) |
V77A |
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,369,617 (GRCm39) |
E384G |
probably null |
Het |
| Vmn2r16 |
G |
A |
5: 109,487,754 (GRCm39) |
G209D |
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 |
|
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 |
|
R5856:Gm19965
|
UTSW |
1 |
116,749,579 (GRCm39) |
missense |
probably benign |
|
|
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'- CCCTAACTTCCACTGAAAGAACTCAGTC -3'
(R):5'- TCTCTATGGTTTGCTGTTGCAAAGAAGA -3'
Sequencing Primer
(F):5'- TCCACTGAAAGAACTCAGTCTATGTC -3'
(R):5'- CTGGAAACAGTGATTAGAGATAGCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation