Incidental Mutation 'R5692:Nnmt'
| ID |
443737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nnmt
|
| Ensembl Gene |
ENSMUSG00000032271 |
| Gene Name |
nicotinamide N-methyltransferase |
| Synonyms |
|
| MMRRC Submission |
043179-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5692 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
48503177-48516453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 48514780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 79
(T79K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034808]
[ENSMUST00000119426]
|
| AlphaFold |
O55239 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034808
AA Change: T79K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034808
Gene: ENSMUSG00000032271
AA Change: T79K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NNMT_PNMT_TEMT
|
1 |
259 |
7.4e-103 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119426
AA Change: T79K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112381
Gene: ENSMUSG00000032271
AA Change: T79K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NNMT_PNMT_TEMT
|
1 |
140 |
2.9e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128076
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
G |
A |
9: 8,221,991 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy10 |
A |
G |
1: 165,342,875 (GRCm39) |
N247S |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,248,862 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
A |
G |
7: 44,797,223 (GRCm39) |
V168A |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap26 |
T |
A |
18: 39,254,945 (GRCm39) |
V274E |
probably damaging |
Het |
| Clec4d |
T |
C |
6: 123,245,104 (GRCm39) |
|
probably null |
Het |
| Dennd4b |
T |
C |
3: 90,185,090 (GRCm39) |
Y1166H |
probably damaging |
Het |
| Egln3 |
T |
C |
12: 54,227,447 (GRCm39) |
|
probably null |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,690,768 (GRCm39) |
M434L |
probably benign |
Het |
| Gfm1 |
T |
G |
3: 67,342,955 (GRCm39) |
M163R |
probably damaging |
Het |
| Isg15 |
A |
T |
4: 156,284,279 (GRCm39) |
L83Q |
probably damaging |
Het |
| Ly9 |
GCCTTTGGGGGACAATTCC |
GCC |
1: 171,432,755 (GRCm39) |
|
probably null |
Het |
| Med1 |
G |
T |
11: 98,047,206 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
T |
A |
11: 105,227,468 (GRCm39) |
V567D |
probably damaging |
Het |
| Opn1sw |
G |
A |
6: 29,379,840 (GRCm39) |
|
probably benign |
Het |
| Optc |
G |
T |
1: 133,828,714 (GRCm39) |
|
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,685,980 (GRCm39) |
P816S |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,502 (GRCm39) |
S245P |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,445,288 (GRCm39) |
F2445L |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,778,652 (GRCm39) |
N721S |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
| Sulf2 |
C |
A |
2: 165,923,426 (GRCm39) |
A598S |
probably benign |
Het |
| Tph2 |
A |
T |
10: 115,020,732 (GRCm39) |
D21E |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,103,324 (GRCm39) |
Y110C |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,628,202 (GRCm39) |
E14653K |
possibly damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,485,724 (GRCm39) |
I590T |
possibly damaging |
Het |
| Zfp607b |
G |
T |
7: 27,402,889 (GRCm39) |
K448N |
probably benign |
Het |
| Zfp689 |
T |
C |
7: 127,048,071 (GRCm39) |
|
probably benign |
Het |
| Zfp709 |
C |
T |
8: 72,643,999 (GRCm39) |
P476L |
probably damaging |
Het |
|
| Other mutations in Nnmt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Nnmt
|
APN |
9 |
48,503,224 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02010:Nnmt
|
APN |
9 |
48,503,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02399:Nnmt
|
APN |
9 |
48,514,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02593:Nnmt
|
APN |
9 |
48,516,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03155:Nnmt
|
APN |
9 |
48,503,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Nnmt
|
UTSW |
9 |
48,503,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0580:Nnmt
|
UTSW |
9 |
48,503,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Nnmt
|
UTSW |
9 |
48,516,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5572:Nnmt
|
UTSW |
9 |
48,503,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6599:Nnmt
|
UTSW |
9 |
48,514,669 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7475:Nnmt
|
UTSW |
9 |
48,503,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7785:Nnmt
|
UTSW |
9 |
48,503,309 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8870:Nnmt
|
UTSW |
9 |
48,514,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9025:Nnmt
|
UTSW |
9 |
48,503,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9060:Nnmt
|
UTSW |
9 |
48,503,367 (GRCm39) |
missense |
probably benign |
|
|
R9623:Nnmt
|
UTSW |
9 |
48,503,660 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGCAGGTCCCTTCAGAAAG -3'
(R):5'- CACTCCAGGCCTTAAAATCAGTTG -3'
Sequencing Primer
(F):5'- GTTGAAGAGCAGATACTCATTCCTC -3'
(R):5'- CCAGGCCTTAAAATCAGTTGTTACAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation