Incidental Mutation 'R2884:Gm19965'
ID |
260946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm19965
|
Ensembl Gene |
ENSMUSG00000094429 |
Gene Name |
predicted gene, 19965 |
Synonyms |
|
MMRRC Submission |
040472-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R2884 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
116730713-116751140 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116749313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 331
(N331K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137019
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179777]
|
AlphaFold |
J3QNY8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000179777
AA Change: N331K
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137019 Gene: ENSMUSG00000094429 AA Change: N331K
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.5e-36 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
G |
T |
8: 120,872,250 (GRCm39) |
E59D |
possibly damaging |
Het |
Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
BC061237 |
A |
G |
14: 44,738,627 (GRCm39) |
R9G |
possibly damaging |
Het |
Brsk1 |
A |
G |
7: 4,694,122 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
G |
T |
13: 113,505,725 (GRCm39) |
A2285S |
probably benign |
Het |
Cspg4b |
A |
T |
13: 113,457,216 (GRCm39) |
Q1087H |
probably damaging |
Het |
Dnajb5 |
A |
T |
4: 42,957,355 (GRCm39) |
D284V |
probably damaging |
Het |
Dnmt3a |
A |
G |
12: 3,946,132 (GRCm39) |
D329G |
probably damaging |
Het |
Ecd |
C |
T |
14: 20,370,841 (GRCm39) |
G626D |
probably damaging |
Het |
Exoc3l4 |
A |
G |
12: 111,394,956 (GRCm39) |
D551G |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,942,846 (GRCm39) |
I317N |
probably benign |
Het |
Fam3c |
G |
A |
6: 22,329,581 (GRCm39) |
R49C |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,848,127 (GRCm39) |
N1779S |
probably benign |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
H2ac8 |
A |
G |
13: 23,755,047 (GRCm39) |
I79T |
probably damaging |
Het |
H2-DMa |
A |
G |
17: 34,356,121 (GRCm39) |
N41S |
probably damaging |
Het |
Habp4 |
A |
T |
13: 64,330,080 (GRCm39) |
R328S |
probably benign |
Het |
Hexb |
C |
T |
13: 97,320,208 (GRCm39) |
G272D |
probably damaging |
Het |
Lilrb4a |
A |
T |
10: 51,367,709 (GRCm39) |
N84Y |
probably benign |
Het |
Mtnr1a |
A |
G |
8: 45,540,305 (GRCm39) |
T89A |
probably benign |
Het |
Myh13 |
T |
A |
11: 67,228,469 (GRCm39) |
N336K |
probably benign |
Het |
Naca |
T |
C |
10: 127,877,547 (GRCm39) |
|
probably benign |
Het |
Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
Nprl3 |
A |
G |
11: 32,198,163 (GRCm39) |
L179P |
probably damaging |
Het |
Nup93 |
A |
G |
8: 95,030,266 (GRCm39) |
Y375C |
probably damaging |
Het |
Or52b4 |
A |
G |
7: 102,184,439 (GRCm39) |
I162V |
probably benign |
Het |
Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
Plekhs1 |
G |
A |
19: 56,459,258 (GRCm39) |
G39R |
probably benign |
Het |
Ppp4r3a |
T |
C |
12: 101,034,936 (GRCm39) |
E53G |
probably damaging |
Het |
Prss48 |
A |
T |
3: 85,904,562 (GRCm39) |
M212K |
probably benign |
Het |
Pth |
A |
T |
7: 112,985,235 (GRCm39) |
L46Q |
probably damaging |
Het |
Rin2 |
A |
T |
2: 145,702,911 (GRCm39) |
T536S |
probably benign |
Het |
Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
Stau2 |
A |
T |
1: 16,301,290 (GRCm39) |
F519Y |
possibly damaging |
Het |
Syne2 |
T |
G |
12: 76,010,533 (GRCm39) |
V2481G |
probably benign |
Het |
Tpte |
C |
T |
8: 22,825,439 (GRCm39) |
Q331* |
probably null |
Het |
Ttn |
G |
T |
2: 76,730,596 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
Vmn2r82 |
A |
G |
10: 79,232,082 (GRCm39) |
I694V |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,651,391 (GRCm39) |
C235Y |
probably damaging |
Het |
Xrn2 |
T |
A |
2: 146,889,576 (GRCm39) |
V653E |
probably damaging |
Het |
Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
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 |
|
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'- GCAGTTCCCTCAAAATCTACTCAGAG -3'
(R):5'- GAGGCATCCCTGTATATATCACAC -3'
Sequencing Primer
(F):5'- TGAGTTTATGGAAGCAATGAAACATG -3'
(R):5'- ACACATGTTCTAGTATACCAGCTATG -3'
|
Posted On |
2015-01-23 |