Incidental Mutation 'R8130:Gm4847'
| ID |
631943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4847
|
| Ensembl Gene |
ENSMUSG00000051081 |
| Gene Name |
predicted gene 4847 |
| Synonyms |
|
| MMRRC Submission |
067559-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R8130 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166456540-166475262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 166465917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 224
(R224Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046662]
|
| AlphaFold |
G3X946 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046662
AA Change: R224Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: R224Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FMO-like
|
3 |
533 |
1.4e-235 |
PFAM |
|
Pfam:Pyr_redox_2
|
4 |
241 |
5.2e-11 |
PFAM |
|
Pfam:Pyr_redox_3
|
7 |
221 |
6.7e-15 |
PFAM |
|
Pfam:NAD_binding_8
|
8 |
92 |
1.6e-7 |
PFAM |
|
Pfam:K_oxygenase
|
77 |
333 |
5.2e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,271 (GRCm39) |
I130M |
probably damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,092,895 (GRCm39) |
D142G |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
| Arfgef2 |
T |
A |
2: 166,678,170 (GRCm39) |
S218T |
possibly damaging |
Het |
| Armc8 |
C |
T |
9: 99,433,600 (GRCm39) |
V40I |
probably benign |
Het |
| Caps2 |
A |
T |
10: 112,018,381 (GRCm39) |
D177V |
probably benign |
Het |
| Cdh8 |
A |
T |
8: 99,757,676 (GRCm39) |
F641I |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,596,384 (GRCm39) |
S1127G |
probably benign |
Het |
| Cmtm1 |
C |
A |
8: 105,036,088 (GRCm39) |
Q180H |
unknown |
Het |
| Col15a1 |
C |
T |
4: 47,312,196 (GRCm39) |
T1337I |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 76,910,284 (GRCm39) |
M555K |
probably benign |
Het |
| Ctrb1 |
A |
G |
8: 112,415,823 (GRCm39) |
F89L |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,917,199 (GRCm39) |
T76A |
probably benign |
Het |
| Dpep1 |
T |
C |
8: 123,926,965 (GRCm39) |
V263A |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,114,358 (GRCm39) |
E1216K |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,052 (GRCm39) |
Y45C |
probably benign |
Het |
| Fam186a |
CGG |
CG |
15: 99,841,914 (GRCm39) |
|
probably null |
Het |
| Gcm1 |
T |
A |
9: 77,971,816 (GRCm39) |
D252E |
probably benign |
Het |
| Gm11559 |
A |
G |
11: 99,755,416 (GRCm39) |
T22A |
unknown |
Het |
| Hypk |
A |
G |
2: 121,286,859 (GRCm39) |
|
probably benign |
Het |
| I830077J02Rik |
C |
T |
3: 105,834,233 (GRCm39) |
C64Y |
possibly damaging |
Het |
| Igkv4-86 |
T |
C |
6: 68,887,650 (GRCm39) |
I30V |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,455,416 (GRCm39) |
I342V |
probably benign |
Het |
| Kcnip3 |
C |
T |
2: 127,352,828 (GRCm39) |
A64T |
possibly damaging |
Het |
| Kdm5d |
T |
A |
Y: 940,658 (GRCm39) |
D1056E |
possibly damaging |
Het |
| Kif19b |
C |
T |
5: 140,460,716 (GRCm39) |
R461C |
probably damaging |
Het |
| Krtap19-2 |
C |
T |
16: 88,670,903 (GRCm39) |
G81R |
unknown |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,629,965 (GRCm39) |
I69N |
|
Het |
| Matcap1 |
G |
A |
8: 106,012,145 (GRCm39) |
R101W |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,299,293 (GRCm39) |
D1914N |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,937,707 (GRCm39) |
Q235L |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,699,111 (GRCm39) |
K185* |
probably null |
Het |
| Muc6 |
T |
C |
7: 141,233,354 (GRCm39) |
T802A |
probably damaging |
Het |
| Necab1 |
A |
T |
4: 15,005,073 (GRCm39) |
F130L |
probably damaging |
Het |
| Nemf |
A |
T |
12: 69,402,826 (GRCm39) |
M70K |
possibly damaging |
Het |
| Nploc4 |
A |
G |
11: 120,280,240 (GRCm39) |
I436T |
possibly damaging |
Het |
| Obscn |
C |
A |
11: 59,015,439 (GRCm39) |
R1011M |
probably damaging |
Het |
| Or4k44 |
A |
T |
2: 111,367,825 (GRCm39) |
F270I |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,901,570 (GRCm39) |
K303E |
probably benign |
Het |
| Or8k24 |
T |
A |
2: 86,215,911 (GRCm39) |
M284L |
probably benign |
Het |
| Ormdl1 |
T |
A |
1: 53,338,139 (GRCm39) |
M1K |
probably null |
Het |
| Pramel34 |
A |
T |
5: 93,784,597 (GRCm39) |
L289Q |
probably damaging |
Het |
| Psmb3 |
A |
G |
11: 97,594,723 (GRCm39) |
D38G |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,792,026 (GRCm39) |
L1171Q |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Slc22a18 |
G |
A |
7: 143,052,911 (GRCm39) |
V379I |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,392,240 (GRCm39) |
F1632L |
probably damaging |
Het |
| Taok1 |
G |
A |
11: 77,470,659 (GRCm39) |
R49C |
possibly damaging |
Het |
| Ttll6 |
T |
C |
11: 96,047,425 (GRCm39) |
S675P |
probably benign |
Het |
| Usp8 |
A |
T |
2: 126,559,918 (GRCm39) |
|
probably benign |
Het |
| Vmn2r81 |
T |
A |
10: 79,110,538 (GRCm39) |
N550K |
possibly damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,971 (GRCm39) |
C291S |
probably damaging |
Het |
| Zfp329 |
C |
A |
7: 12,544,313 (GRCm39) |
G404C |
probably damaging |
Het |
| Zfp934 |
C |
A |
13: 62,667,985 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gm4847 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00726:Gm4847
|
APN |
1 |
166,457,961 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL00943:Gm4847
|
APN |
1 |
166,469,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00948:Gm4847
|
APN |
1 |
166,457,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01146:Gm4847
|
APN |
1 |
166,462,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01345:Gm4847
|
APN |
1 |
166,462,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01654:Gm4847
|
APN |
1 |
166,465,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01817:Gm4847
|
APN |
1 |
166,462,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02028:Gm4847
|
APN |
1 |
166,469,765 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02031:Gm4847
|
APN |
1 |
166,462,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Gm4847
|
APN |
1 |
166,469,307 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03278:Gm4847
|
APN |
1 |
166,462,605 (GRCm39) |
missense |
probably benign |
0.06 |
|
Disturbance
|
UTSW |
1 |
166,467,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ruckus
|
UTSW |
1 |
166,457,824 (GRCm39) |
missense |
probably benign |
0.07 |
|
PIT4494001:Gm4847
|
UTSW |
1 |
166,467,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Gm4847
|
UTSW |
1 |
166,458,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0009:Gm4847
|
UTSW |
1 |
166,458,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0121:Gm4847
|
UTSW |
1 |
166,469,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Gm4847
|
UTSW |
1 |
166,457,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Gm4847
|
UTSW |
1 |
166,457,824 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1136:Gm4847
|
UTSW |
1 |
166,457,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1522:Gm4847
|
UTSW |
1 |
166,469,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Gm4847
|
UTSW |
1 |
166,465,908 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1818:Gm4847
|
UTSW |
1 |
166,465,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1819:Gm4847
|
UTSW |
1 |
166,465,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Gm4847
|
UTSW |
1 |
166,462,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4628:Gm4847
|
UTSW |
1 |
166,457,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Gm4847
|
UTSW |
1 |
166,469,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5065:Gm4847
|
UTSW |
1 |
166,462,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5068:Gm4847
|
UTSW |
1 |
166,465,953 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5493:Gm4847
|
UTSW |
1 |
166,457,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5500:Gm4847
|
UTSW |
1 |
166,462,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Gm4847
|
UTSW |
1 |
166,470,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6018:Gm4847
|
UTSW |
1 |
166,471,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6178:Gm4847
|
UTSW |
1 |
166,469,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Gm4847
|
UTSW |
1 |
166,457,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6220:Gm4847
|
UTSW |
1 |
166,462,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6654:Gm4847
|
UTSW |
1 |
166,457,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Gm4847
|
UTSW |
1 |
166,460,249 (GRCm39) |
missense |
probably benign |
|
|
R7796:Gm4847
|
UTSW |
1 |
166,469,819 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7856:Gm4847
|
UTSW |
1 |
166,462,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Gm4847
|
UTSW |
1 |
166,467,575 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8361:Gm4847
|
UTSW |
1 |
166,469,839 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8496:Gm4847
|
UTSW |
1 |
166,469,761 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8935:Gm4847
|
UTSW |
1 |
166,469,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:Gm4847
|
UTSW |
1 |
166,469,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Gm4847
|
UTSW |
1 |
166,467,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Gm4847
|
UTSW |
1 |
166,460,281 (GRCm39) |
missense |
probably benign |
|
|
R9513:Gm4847
|
UTSW |
1 |
166,462,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Gm4847
|
UTSW |
1 |
166,467,582 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0018:Gm4847
|
UTSW |
1 |
166,462,519 (GRCm39) |
missense |
probably benign |
0.24 |
|
X0024:Gm4847
|
UTSW |
1 |
166,460,284 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Gm4847
|
UTSW |
1 |
166,462,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACGCACCTATAGCTTACAG -3'
(R):5'- CTAGGGGATCAAGCCAATGG -3'
Sequencing Primer
(F):5'- CCAGTCACTCAAAAGTATTGTCTGC -3'
(R):5'- TCAAGCCAATGGGGGAAGTTAATTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation