Incidental Mutation 'R5821:Nutm2'
| ID |
449949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nutm2
|
| Ensembl Gene |
ENSMUSG00000071909 |
| Gene Name |
NUT family member 2 |
| Synonyms |
LOC328250, Gm806 |
| MMRRC Submission |
043401-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5821 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
50621343-50629391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50623891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 196
(Y196C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096633]
|
| AlphaFold |
Q3V0C3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096633
AA Change: Y196C
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000094390
Gene: ENSMUSG00000071909
AA Change: Y196C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUT
|
27 |
733 |
9e-277 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185962
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,686,458 (GRCm39) |
V278D |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,322,167 (GRCm39) |
D227G |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,096,064 (GRCm39) |
E2313G |
probably benign |
Het |
| Cchcr1 |
A |
T |
17: 35,839,745 (GRCm39) |
E564D |
probably damaging |
Het |
| Cers2 |
G |
A |
3: 95,229,008 (GRCm39) |
|
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,425,188 (GRCm39) |
I301T |
probably benign |
Het |
| Ciita |
A |
T |
16: 10,329,669 (GRCm39) |
E648V |
possibly damaging |
Het |
| Cir1 |
C |
T |
2: 73,142,804 (GRCm39) |
C10Y |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,518,214 (GRCm39) |
F1087I |
probably damaging |
Het |
| Cped1 |
C |
A |
6: 22,138,681 (GRCm39) |
F415L |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,181,292 (GRCm39) |
T1060A |
possibly damaging |
Het |
| Epha5 |
G |
T |
5: 84,232,587 (GRCm39) |
P809H |
probably damaging |
Het |
| Fuca1 |
T |
A |
4: 135,650,273 (GRCm39) |
|
probably null |
Het |
| Galnt2l |
A |
T |
8: 123,627,372 (GRCm39) |
*98R |
probably null |
Het |
| Gm26796 |
G |
A |
12: 80,805,564 (GRCm39) |
R237C |
unknown |
Het |
| Idua |
A |
G |
5: 108,827,600 (GRCm39) |
Y138C |
probably benign |
Het |
| Ighd |
A |
T |
12: 113,373,253 (GRCm39) |
L240H |
probably benign |
Het |
| Ing2 |
C |
G |
8: 48,121,861 (GRCm39) |
C229S |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kctd8 |
A |
T |
5: 69,267,828 (GRCm39) |
N427K |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,544,586 (GRCm39) |
E1147G |
probably damaging |
Het |
| Kif18a |
G |
A |
2: 109,120,190 (GRCm39) |
|
probably benign |
Het |
| Krt82 |
T |
A |
15: 101,456,820 (GRCm39) |
R187* |
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,593,593 (GRCm39) |
|
probably null |
Het |
| M1ap |
T |
C |
6: 82,945,083 (GRCm39) |
Y126H |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,970,044 (GRCm39) |
N226D |
possibly damaging |
Het |
| Mtmr11 |
A |
G |
3: 96,075,185 (GRCm39) |
D353G |
possibly damaging |
Het |
| Nfkbia |
A |
T |
12: 55,538,005 (GRCm39) |
H149Q |
probably damaging |
Het |
| Nr5a1 |
A |
T |
2: 38,598,511 (GRCm39) |
F95L |
probably damaging |
Het |
| Oxtr |
A |
G |
6: 112,466,457 (GRCm39) |
I101T |
probably damaging |
Het |
| Pcsk2 |
T |
A |
2: 143,591,035 (GRCm39) |
|
probably null |
Het |
| Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,788 (GRCm39) |
W585R |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,012,933 (GRCm39) |
S407G |
probably benign |
Het |
| Ppfia3 |
G |
A |
7: 45,003,040 (GRCm39) |
T372I |
probably damaging |
Het |
| Prrc2b |
A |
T |
2: 32,102,144 (GRCm39) |
E739V |
probably damaging |
Het |
| Ro60 |
A |
G |
1: 143,642,503 (GRCm39) |
V209A |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,574,047 (GRCm39) |
E192G |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,183,435 (GRCm39) |
D316G |
probably damaging |
Het |
| Smim8 |
GGTTTAATGAAGAG |
GG |
4: 34,771,259 (GRCm39) |
|
probably benign |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tgm2 |
T |
A |
2: 157,984,974 (GRCm39) |
Y44F |
possibly damaging |
Het |
| Tmc8 |
C |
A |
11: 117,683,455 (GRCm39) |
S670* |
probably null |
Het |
| Tmem145 |
A |
G |
7: 25,014,946 (GRCm39) |
D523G |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,566,937 (GRCm39) |
G483E |
probably damaging |
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 |
|
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 |
|
R8217:Nutm2
|
UTSW |
13 |
50,623,759 (GRCm39) |
missense |
probably benign |
0.16 |
|
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'- ATTGTTCTCACTCAGGTGCC -3'
(R):5'- TGGCACTCACATGAGGAAGC -3'
Sequencing Primer
(F):5'- TTGTAATATCCCTGGGACCCAAGG -3'
(R):5'- CAGGAGAAAGCTGCCACATCG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation