Incidental Mutation 'R4476:Gm14401'
| ID |
330552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14401
|
| Ensembl Gene |
ENSMUSG00000078872 |
| Gene Name |
predicted gene 14401 |
| Synonyms |
|
| MMRRC Submission |
041733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R4476 (G1)
|
| Quality Score |
93 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
176778122-176779598 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 176778570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 219
(R219*)
|
| 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 |
probably null
Transcript: ENSMUST00000108970
AA Change: R219*
|
| SMART Domains |
Protein: ENSMUSP00000104598
Gene: ENSMUSG00000078872
AA Change: R219*
| 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 |
probably null
Transcript: ENSMUST00000134614
AA Change: R219*
|
| SMART Domains |
Protein: ENSMUSP00000119549
Gene: ENSMUSG00000078872
AA Change: R219*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,882,787 (GRCm39) |
R275G |
probably damaging |
Het |
| Actc1 |
T |
C |
2: 113,879,707 (GRCm39) |
T251A |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Arsb |
C |
T |
13: 93,944,103 (GRCm39) |
R265C |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,749,522 (GRCm39) |
E319G |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,606,782 (GRCm39) |
N275K |
probably benign |
Het |
| Crispld1 |
G |
T |
1: 17,817,734 (GRCm39) |
W212C |
probably damaging |
Het |
| Exosc10 |
G |
A |
4: 148,649,781 (GRCm39) |
D404N |
probably damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,715,169 (GRCm39) |
V388A |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp1 |
T |
C |
12: 21,320,957 (GRCm39) |
E178G |
probably benign |
Het |
| Kidins220 |
C |
T |
12: 25,061,000 (GRCm39) |
S826L |
probably damaging |
Het |
| Krt90 |
T |
C |
15: 101,465,718 (GRCm39) |
D301G |
probably damaging |
Het |
| Me3 |
T |
A |
7: 89,389,068 (GRCm39) |
V124E |
probably damaging |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Neto1 |
A |
T |
18: 86,422,798 (GRCm39) |
D85V |
probably damaging |
Het |
| Or12k8 |
G |
A |
2: 36,975,073 (GRCm39) |
S229L |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,842 (GRCm39) |
Y259H |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,310,009 (GRCm39) |
D293E |
possibly damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,795,500 (GRCm39) |
E2331G |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,763,973 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,672,340 (GRCm39) |
|
probably null |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,307,598 (GRCm39) |
K89E |
possibly damaging |
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 |
|
|
R1289:Gm14401
|
UTSW |
2 |
176,778,789 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
|
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'- TGCATATGAGAGTTGTAGTCAAAGG -3'
(R):5'- GGTCATTCCTTCCTGCAAAGG -3'
Sequencing Primer
(F):5'- CAATGTGGTAAAGCGTTTGCAC -3'
(R):5'- CTGCAAAGGCTTTACCACATTGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation