Incidental Mutation 'R2901:Gm3336'
| ID |
261469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm3336
|
| Ensembl Gene |
ENSMUSG00000095026 |
| Gene Name |
predicted gene 3336 |
| Synonyms |
2410018E23Rik |
| MMRRC Submission |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71171192-71175283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71173275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 96
(S96P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034307]
[ENSMUST00000110095]
[ENSMUST00000123739]
[ENSMUST00000179347]
[ENSMUST00000212436]
[ENSMUST00000213065]
|
| AlphaFold |
J3QMQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034307
|
| SMART Domains |
Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
HDc
|
386 |
512 |
1.48e0 |
SMART |
|
Pfam:PDEase_I
|
526 |
598 |
5.3e-21 |
PFAM |
|
low complexity region
|
625 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110095
|
| SMART Domains |
Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
HDc
|
386 |
561 |
5.11e-6 |
SMART |
|
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123739
|
| SMART Domains |
Protein: ENSMUSP00000119312
Gene: ENSMUSG00000031842
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179347
AA Change: S96P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136399
Gene: ENSMUSG00000095026
AA Change: S96P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212436
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213065
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
| Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
probably benign |
Het |
|
| Other mutations in Gm3336 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0375:Gm3336
|
UTSW |
8 |
71,171,294 (GRCm39) |
splice site |
probably benign |
|
|
R1824:Gm3336
|
UTSW |
8 |
71,173,066 (GRCm39) |
splice site |
probably null |
|
|
R2156:Gm3336
|
UTSW |
8 |
71,174,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4200:Gm3336
|
UTSW |
8 |
71,173,261 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4328:Gm3336
|
UTSW |
8 |
71,173,234 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5171:Gm3336
|
UTSW |
8 |
71,174,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5180:Gm3336
|
UTSW |
8 |
71,173,110 (GRCm39) |
intron |
probably benign |
|
|
R7128:Gm3336
|
UTSW |
8 |
71,171,203 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7985:Gm3336
|
UTSW |
8 |
71,173,176 (GRCm39) |
missense |
unknown |
|
|
R7996:Gm3336
|
UTSW |
8 |
71,173,146 (GRCm39) |
missense |
unknown |
|
|
R8955:Gm3336
|
UTSW |
8 |
71,174,545 (GRCm39) |
nonsense |
probably null |
|
|
R9036:Gm3336
|
UTSW |
8 |
71,173,069 (GRCm39) |
missense |
unknown |
|
|
R9456:Gm3336
|
UTSW |
8 |
71,174,740 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCCCATTCGCAAGCTTC -3'
(R):5'- CAGAACTGCTGTCAGATTTCAG -3'
Sequencing Primer
(F):5'- TTCGCAAGCTTCATAGACACATATC -3'
(R):5'- ACAGGGTTTCTCTGTAGAGCCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation