Incidental Mutation 'R5711:Gm4846'
| ID |
452198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4846
|
| Ensembl Gene |
ENSMUSG00000086056 |
| Gene Name |
predicted gene 4846 |
| Synonyms |
|
| MMRRC Submission |
043185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
166311182-166325157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 166311594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 422
(S422G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143922]
|
| AlphaFold |
B2RWH8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143922
AA Change: S422G
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123476
Gene: ENSMUSG00000086056
AA Change: S422G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
3 |
534 |
9.2e-239 |
PFAM |
|
Pfam:Pyr_redox_2
|
4 |
227 |
1.1e-10 |
PFAM |
|
Pfam:Pyr_redox_3
|
7 |
221 |
1.9e-12 |
PFAM |
|
Pfam:NAD_binding_8
|
8 |
92 |
4.2e-7 |
PFAM |
|
Pfam:K_oxygenase
|
77 |
333 |
3.4e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak6 |
A |
T |
13: 100,790,722 (GRCm39) |
T18S |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,773,227 (GRCm39) |
V275A |
possibly damaging |
Het |
| Cebpz |
T |
A |
17: 79,242,040 (GRCm39) |
Q538L |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,634,618 (GRCm39) |
I187F |
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,190,167 (GRCm39) |
L70F |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,809,938 (GRCm39) |
D1230V |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,003,703 (GRCm39) |
C2617Y |
probably damaging |
Het |
| D7Ertd443e |
T |
A |
7: 133,951,110 (GRCm39) |
N188Y |
probably benign |
Het |
| Ddx51 |
A |
G |
5: 110,802,790 (GRCm39) |
I214M |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,716 (GRCm39) |
V1328A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,326,216 (GRCm39) |
C3639Y |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,081,326 (GRCm39) |
T511I |
probably benign |
Het |
| Fam220a |
A |
T |
5: 143,549,212 (GRCm39) |
E208V |
probably damaging |
Het |
| Grin2c |
C |
T |
11: 115,141,115 (GRCm39) |
R1001Q |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,498,301 (GRCm39) |
E248G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,008,518 (GRCm39) |
V92A |
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,974 (GRCm39) |
D278G |
probably damaging |
Het |
| Mok |
G |
T |
12: 110,774,503 (GRCm39) |
T228K |
probably damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,008 (GRCm39) |
I214T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pabpc1 |
T |
C |
15: 36,606,074 (GRCm39) |
I101V |
probably benign |
Het |
| Ppargc1a |
G |
T |
5: 51,631,562 (GRCm39) |
Q356K |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,652,524 (GRCm39) |
D608V |
probably damaging |
Het |
| Rxfp1 |
C |
T |
3: 79,586,054 (GRCm39) |
C96Y |
probably damaging |
Het |
| Scn11a |
A |
C |
9: 119,618,990 (GRCm39) |
V784G |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,723 (GRCm39) |
S366P |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,410,679 (GRCm39) |
Y226C |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,846,914 (GRCm39) |
V49A |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,451 (GRCm39) |
S140P |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Spty2d1 |
G |
T |
7: 46,647,845 (GRCm39) |
N361K |
possibly damaging |
Het |
| Stk4 |
G |
A |
2: 163,941,674 (GRCm39) |
A297T |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,688,139 (GRCm39) |
N683K |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,299,829 (GRCm39) |
E141G |
probably benign |
Het |
| Tmem125 |
A |
T |
4: 118,399,216 (GRCm39) |
C72S |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,572,437 (GRCm39) |
T26152K |
probably damaging |
Het |
| Uhrf1 |
G |
A |
17: 56,627,259 (GRCm39) |
G643D |
possibly damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,774,299 (GRCm39) |
M532I |
possibly damaging |
Het |
|
| Other mutations in Gm4846 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02682:Gm4846
|
APN |
1 |
166,322,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02975:Gm4846
|
APN |
1 |
166,311,449 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0504:Gm4846
|
UTSW |
1 |
166,319,114 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0989:Gm4846
|
UTSW |
1 |
166,314,689 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1836:Gm4846
|
UTSW |
1 |
166,311,492 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1965:Gm4846
|
UTSW |
1 |
166,314,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3120:Gm4846
|
UTSW |
1 |
166,319,117 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4013:Gm4846
|
UTSW |
1 |
166,322,249 (GRCm39) |
splice site |
probably null |
|
|
R4617:Gm4846
|
UTSW |
1 |
166,323,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4641:Gm4846
|
UTSW |
1 |
166,311,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4825:Gm4846
|
UTSW |
1 |
166,319,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Gm4846
|
UTSW |
1 |
166,311,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5135:Gm4846
|
UTSW |
1 |
166,311,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Gm4846
|
UTSW |
1 |
166,317,748 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5335:Gm4846
|
UTSW |
1 |
166,325,022 (GRCm39) |
nonsense |
probably null |
|
|
R5957:Gm4846
|
UTSW |
1 |
166,314,522 (GRCm39) |
missense |
probably benign |
|
|
R6024:Gm4846
|
UTSW |
1 |
166,317,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6460:Gm4846
|
UTSW |
1 |
166,325,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6764:Gm4846
|
UTSW |
1 |
166,319,121 (GRCm39) |
missense |
probably benign |
|
|
R6833:Gm4846
|
UTSW |
1 |
166,322,147 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6834:Gm4846
|
UTSW |
1 |
166,322,147 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7161:Gm4846
|
UTSW |
1 |
166,314,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Gm4846
|
UTSW |
1 |
166,314,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7622:Gm4846
|
UTSW |
1 |
166,323,441 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7890:Gm4846
|
UTSW |
1 |
166,322,228 (GRCm39) |
missense |
probably benign |
|
|
R8072:Gm4846
|
UTSW |
1 |
166,322,241 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8558:Gm4846
|
UTSW |
1 |
166,314,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9213:Gm4846
|
UTSW |
1 |
166,322,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Gm4846
|
UTSW |
1 |
166,324,959 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9251:Gm4846
|
UTSW |
1 |
166,311,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCTTGTAGACGATACTG -3'
(R):5'- CTGCAGAAAGGATACATGTATCTCC -3'
Sequencing Primer
(F):5'- CCCTTGTAGACGATACTGGTATG -3'
(R):5'- ATCTTGTCACTTGGTCAACAATTTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation