Incidental Mutation 'R8217:Nutm2'
| ID |
636434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nutm2
|
| Ensembl Gene |
ENSMUSG00000071909 |
| Gene Name |
NUT family member 2 |
| Synonyms |
LOC328250, Gm806 |
| MMRRC Submission |
067658-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
50621343-50629391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 50623759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 152
(R152L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096633]
|
| AlphaFold |
Q3V0C3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096633
AA Change: R152L
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000094390
Gene: ENSMUSG00000071909
AA Change: R152L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUT
|
27 |
733 |
9e-277 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,037,921 (GRCm39) |
L406P |
probably damaging |
Het |
| Aph1b |
T |
C |
9: 66,686,554 (GRCm39) |
K239E |
possibly damaging |
Het |
| Atp13a4 |
C |
A |
16: 29,222,619 (GRCm39) |
V1102F |
|
Het |
| B3gat1 |
G |
A |
9: 26,668,165 (GRCm39) |
A265T |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,988,850 (GRCm39) |
E419G |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,080,197 (GRCm39) |
L380P |
probably damaging |
Het |
| Cd55b |
CTTTT |
CTTTTT |
1: 130,347,337 (GRCm39) |
|
probably null |
Het |
| Cfi |
A |
C |
3: 129,648,650 (GRCm39) |
N178T |
possibly damaging |
Het |
| Col5a1 |
T |
A |
2: 27,812,135 (GRCm39) |
D72E |
unknown |
Het |
| Cspg4 |
T |
A |
9: 56,797,637 (GRCm39) |
V1367D |
possibly damaging |
Het |
| D5Ertd579e |
A |
C |
5: 36,771,402 (GRCm39) |
S998A |
probably benign |
Het |
| Ehf |
T |
C |
2: 103,109,976 (GRCm39) |
E77G |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,820,937 (GRCm39) |
I662T |
probably benign |
Het |
| F11r |
GGTGTG |
GGTGTGTG |
1: 171,290,656 (GRCm39) |
|
probably null |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Klhl8 |
A |
G |
5: 104,015,466 (GRCm39) |
V486A |
possibly damaging |
Het |
| Lrrc72 |
A |
T |
12: 36,258,676 (GRCm39) |
D60E |
probably damaging |
Het |
| Marchf5 |
C |
T |
19: 37,185,210 (GRCm39) |
|
probably benign |
Het |
| Mtmr12 |
T |
C |
15: 12,259,726 (GRCm39) |
I365T |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nod2 |
A |
C |
8: 89,390,785 (GRCm39) |
D364A |
probably benign |
Het |
| Numa1 |
T |
A |
7: 101,641,876 (GRCm39) |
M108K |
possibly damaging |
Het |
| Or14c43 |
A |
G |
7: 86,115,390 (GRCm39) |
Y257C |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,792 (GRCm39) |
M41L |
probably benign |
Het |
| Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
| Pak1ip1 |
T |
A |
13: 41,166,126 (GRCm39) |
S350R |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 37,079,974 (GRCm39) |
F239L |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pkm |
C |
T |
9: 59,586,092 (GRCm39) |
T524I |
possibly damaging |
Het |
| Plekhg2 |
T |
A |
7: 28,067,717 (GRCm39) |
Q245L |
probably null |
Het |
| Pola2 |
T |
A |
19: 6,013,855 (GRCm39) |
K26N |
possibly damaging |
Het |
| Prune2 |
G |
T |
19: 17,097,480 (GRCm39) |
A995S |
probably benign |
Het |
| Rap2b |
C |
A |
3: 61,272,551 (GRCm39) |
T25K |
possibly damaging |
Het |
| Scrib |
A |
G |
15: 75,939,004 (GRCm39) |
S165P |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,197,713 (GRCm39) |
H2122L |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,599 (GRCm39) |
F200I |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,782,964 (GRCm39) |
V226A |
possibly damaging |
Het |
| Sik1 |
T |
A |
17: 32,070,286 (GRCm39) |
H141L |
probably damaging |
Het |
| Slc9a5 |
A |
T |
8: 106,089,956 (GRCm39) |
E638V |
probably damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,221,202 (GRCm39) |
C15R |
probably benign |
Het |
| Slit1 |
C |
T |
19: 41,612,959 (GRCm39) |
D854N |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tec |
A |
T |
5: 72,921,602 (GRCm39) |
M372K |
probably benign |
Het |
| Tlr2 |
A |
G |
3: 83,745,373 (GRCm39) |
F237L |
probably benign |
Het |
| Trio |
A |
T |
15: 27,819,055 (GRCm39) |
L1597Q |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,957,247 (GRCm39) |
M723K |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,783,694 (GRCm39) |
I592T |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,986 (GRCm39) |
E768G |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,047,295 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nutm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Nutm2
|
APN |
13 |
50,628,896 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01087:Nutm2
|
APN |
13 |
50,623,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01707:Nutm2
|
APN |
13 |
50,623,753 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02085:Nutm2
|
APN |
13 |
50,627,829 (GRCm39) |
splice site |
probably null |
|
|
IGL02238:Nutm2
|
APN |
13 |
50,625,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02369:Nutm2
|
APN |
13 |
50,623,944 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02429:Nutm2
|
APN |
13 |
50,623,516 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03083:Nutm2
|
APN |
13 |
50,621,480 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0233:Nutm2
|
UTSW |
13 |
50,621,441 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0233:Nutm2
|
UTSW |
13 |
50,621,441 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0321:Nutm2
|
UTSW |
13 |
50,626,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1481:Nutm2
|
UTSW |
13 |
50,623,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1605:Nutm2
|
UTSW |
13 |
50,623,955 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1679:Nutm2
|
UTSW |
13 |
50,623,422 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1744:Nutm2
|
UTSW |
13 |
50,623,390 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1768:Nutm2
|
UTSW |
13 |
50,627,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Nutm2
|
UTSW |
13 |
50,627,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Nutm2
|
UTSW |
13 |
50,628,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2187:Nutm2
|
UTSW |
13 |
50,621,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3912:Nutm2
|
UTSW |
13 |
50,626,976 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4025:Nutm2
|
UTSW |
13 |
50,623,389 (GRCm39) |
missense |
probably benign |
|
|
R4367:Nutm2
|
UTSW |
13 |
50,623,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4668:Nutm2
|
UTSW |
13 |
50,627,033 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4940:Nutm2
|
UTSW |
13 |
50,628,909 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4987:Nutm2
|
UTSW |
13 |
50,626,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4988:Nutm2
|
UTSW |
13 |
50,626,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5821:Nutm2
|
UTSW |
13 |
50,623,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5986:Nutm2
|
UTSW |
13 |
50,628,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Nutm2
|
UTSW |
13 |
50,623,774 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7101:Nutm2
|
UTSW |
13 |
50,626,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7192:Nutm2
|
UTSW |
13 |
50,627,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Nutm2
|
UTSW |
13 |
50,624,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7591:Nutm2
|
UTSW |
13 |
50,627,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8347:Nutm2
|
UTSW |
13 |
50,626,373 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8811:Nutm2
|
UTSW |
13 |
50,623,989 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9093:Nutm2
|
UTSW |
13 |
50,628,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Nutm2
|
UTSW |
13 |
50,626,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:Nutm2
|
UTSW |
13 |
50,621,455 (GRCm39) |
missense |
probably benign |
|
|
R9532:Nutm2
|
UTSW |
13 |
50,628,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Nutm2
|
UTSW |
13 |
50,628,901 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9650:Nutm2
|
UTSW |
13 |
50,623,755 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9683:Nutm2
|
UTSW |
13 |
50,629,017 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0028:Nutm2
|
UTSW |
13 |
50,626,990 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCTGCCTTGCCTGGGATG -3'
(R):5'- CACTGTCTGGTTTGGACAAGTAG -3'
Sequencing Primer
(F):5'- TGGAAGCACTGCCCTGAGTG -3'
(R):5'- GGACAAGTAGTTTTCTGGGGAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation