Incidental Mutation 'R1289:Gm14401'
ID |
150724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm14401
|
Ensembl Gene |
ENSMUSG00000078872 |
Gene Name |
predicted gene 14401 |
Synonyms |
|
MMRRC Submission |
039355-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.196)
|
Stock # |
R1289 (G1)
|
Quality Score |
123 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
176778122-176779598 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 176778789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 292
(Y292H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119549
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108968]
[ENSMUST00000108970]
[ENSMUST00000134614]
|
AlphaFold |
A2ARV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108968
|
SMART Domains |
Protein: ENSMUSP00000104596 Gene: ENSMUSG00000078872
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
1.21e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108969
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108970
AA Change: Y292H
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104598 Gene: ENSMUSG00000078872 AA Change: Y292H
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
9.34e-15 |
SMART |
Pfam:zf-C2H2_4
|
69 |
98 |
4.5e-2 |
PFAM |
ZnF_C2H2
|
103 |
125 |
2.09e-3 |
SMART |
ZnF_C2H2
|
131 |
153 |
6.88e-4 |
SMART |
ZnF_C2H2
|
159 |
181 |
5.9e-3 |
SMART |
ZnF_C2H2
|
187 |
209 |
4.01e-5 |
SMART |
ZnF_C2H2
|
215 |
237 |
2.91e-2 |
SMART |
ZnF_C2H2
|
243 |
265 |
1.21e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121260
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134614
AA Change: Y292H
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000119549 Gene: ENSMUSG00000078872 AA Change: Y292H
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
9.34e-15 |
SMART |
ZnF_C2H2
|
103 |
125 |
2.09e-3 |
SMART |
ZnF_C2H2
|
131 |
153 |
6.88e-4 |
SMART |
ZnF_C2H2
|
159 |
181 |
5.9e-3 |
SMART |
ZnF_C2H2
|
187 |
209 |
4.01e-5 |
SMART |
ZnF_C2H2
|
215 |
237 |
2.91e-2 |
SMART |
ZnF_C2H2
|
243 |
265 |
1.21e2 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,884,756 (GRCm39) |
Y367* |
probably null |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,115,026 (GRCm39) |
R997G |
possibly damaging |
Het |
Brd10 |
T |
C |
19: 29,700,852 (GRCm39) |
I745M |
probably benign |
Het |
Col22a1 |
T |
G |
15: 71,709,226 (GRCm39) |
K655T |
unknown |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Glcci1 |
G |
A |
6: 8,593,088 (GRCm39) |
V298I |
possibly damaging |
Het |
Gm9956 |
T |
A |
10: 56,621,676 (GRCm39) |
S113T |
probably damaging |
Het |
Gpr75 |
T |
C |
11: 30,842,706 (GRCm39) |
I537T |
probably benign |
Het |
Hars2 |
T |
G |
18: 36,916,465 (GRCm39) |
|
probably null |
Het |
Helq |
A |
G |
5: 100,944,330 (GRCm39) |
V260A |
probably damaging |
Het |
Ift172 |
A |
C |
5: 31,438,320 (GRCm39) |
F46V |
probably damaging |
Het |
Klk1b9 |
A |
T |
7: 43,627,848 (GRCm39) |
I49L |
probably benign |
Het |
Lrrk2 |
T |
G |
15: 91,696,563 (GRCm39) |
N2450K |
probably benign |
Het |
Mtor |
T |
C |
4: 148,554,764 (GRCm39) |
V867A |
probably benign |
Het |
Nlgn1 |
G |
T |
3: 25,488,400 (GRCm39) |
T645K |
possibly damaging |
Het |
Nphs1 |
T |
C |
7: 30,170,603 (GRCm39) |
L931P |
probably damaging |
Het |
Phf19 |
T |
C |
2: 34,786,042 (GRCm39) |
T476A |
probably benign |
Het |
Rnf169 |
T |
C |
7: 99,574,943 (GRCm39) |
I551V |
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,475,630 (GRCm39) |
E4472V |
probably damaging |
Het |
Tek |
T |
G |
4: 94,693,067 (GRCm39) |
F209V |
probably damaging |
Het |
Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Gm14401 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01017:Gm14401
|
APN |
2 |
176,778,625 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4548:Gm14401
|
UTSW |
2 |
176,778,661 (GRCm39) |
missense |
probably benign |
|
R3967:Gm14401
|
UTSW |
2 |
176,778,789 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3968:Gm14401
|
UTSW |
2 |
176,778,789 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3970:Gm14401
|
UTSW |
2 |
176,778,789 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4476:Gm14401
|
UTSW |
2 |
176,778,570 (GRCm39) |
nonsense |
probably null |
|
R4627:Gm14401
|
UTSW |
2 |
176,778,109 (GRCm39) |
missense |
probably benign |
|
R4897:Gm14401
|
UTSW |
2 |
176,778,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R5245:Gm14401
|
UTSW |
2 |
176,778,471 (GRCm39) |
missense |
probably damaging |
0.99 |
R5660:Gm14401
|
UTSW |
2 |
176,778,224 (GRCm39) |
missense |
probably damaging |
0.96 |
R5834:Gm14401
|
UTSW |
2 |
176,778,696 (GRCm39) |
missense |
probably benign |
0.25 |
R8025:Gm14401
|
UTSW |
2 |
176,778,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R9499:Gm14401
|
UTSW |
2 |
176,778,337 (GRCm39) |
missense |
probably benign |
0.14 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCATCAAATTAAAcatactggagagaaacac -3'
(R):5'- CCTTTATATATTTGGAGGCCACTGCTTCAT -3'
Sequencing Primer
(F):5'- catctccgaatacataagcgaac -3'
(R):5'- GGTGTAAAGGCACCATTGC -3'
|
Posted On |
2014-01-29 |