Incidental Mutation 'R9532:Nutm2'
| ID |
719539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nutm2
|
| Ensembl Gene |
ENSMUSG00000071909 |
| Gene Name |
NUT family member 2 |
| Synonyms |
LOC328250, Gm806 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
50621343-50629391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50628475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 513
(V513A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096633]
|
| AlphaFold |
Q3V0C3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096633
AA Change: V513A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000094390
Gene: ENSMUSG00000071909
AA Change: V513A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUT
|
27 |
733 |
9e-277 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,350,397 (GRCm39) |
N165S |
unknown |
Het |
| 9530002B09Rik |
C |
A |
4: 122,596,133 (GRCm39) |
N121K |
unknown |
Het |
| Abca1 |
A |
T |
4: 53,109,284 (GRCm39) |
N141K |
probably benign |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,457,371 (GRCm39) |
N57S |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,338,246 (GRCm39) |
W1709R |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,687,042 (GRCm39) |
E117G |
probably damaging |
Het |
| D17H6S53E |
T |
A |
17: 35,346,145 (GRCm39) |
S19T |
possibly damaging |
Het |
| Dab2 |
G |
T |
15: 6,451,762 (GRCm39) |
R126L |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 86,893,916 (GRCm39) |
D31G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,228,260 (GRCm39) |
L1678* |
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,212 (GRCm39) |
V628A |
probably damaging |
Het |
| Fgf8 |
A |
T |
19: 45,725,679 (GRCm39) |
V186E |
probably damaging |
Het |
| Fmnl2 |
A |
T |
2: 53,006,941 (GRCm39) |
Y751F |
unknown |
Het |
| Frmpd1 |
A |
T |
4: 45,278,886 (GRCm39) |
E537V |
|
Het |
| Garin3 |
A |
G |
11: 46,297,673 (GRCm39) |
T326A |
|
Het |
| Grin1 |
C |
T |
2: 25,187,909 (GRCm39) |
G529D |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,429,306 (GRCm39) |
T872I |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,502,616 (GRCm39) |
I4240T |
probably benign |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,473,398 (GRCm39) |
Q6L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,897,229 (GRCm39) |
D1112E |
possibly damaging |
Het |
| Ighv1-82 |
T |
G |
12: 115,916,158 (GRCm39) |
R117S |
probably damaging |
Het |
| Iqch |
G |
A |
9: 63,389,935 (GRCm39) |
A748V |
|
Het |
| Kcnd2 |
G |
T |
6: 21,727,180 (GRCm39) |
A578S |
probably benign |
Het |
| Klc2 |
A |
G |
19: 5,161,565 (GRCm39) |
V315A |
possibly damaging |
Het |
| Klhl20 |
A |
T |
1: 160,937,329 (GRCm39) |
D15E |
probably benign |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,586,024 (GRCm39) |
I96F |
probably damaging |
Het |
| Lyzl6 |
T |
C |
11: 103,522,168 (GRCm39) |
T143A |
probably benign |
Het |
| Nup93 |
G |
A |
8: 95,041,249 (GRCm39) |
A796T |
probably damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,746 (GRCm39) |
V100A |
probably benign |
Het |
| Or52e4 |
A |
T |
7: 104,706,275 (GRCm39) |
H274L |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,008,206 (GRCm39) |
V119A |
possibly damaging |
Het |
| Pkmyt1 |
T |
C |
17: 23,954,691 (GRCm39) |
I427T |
probably benign |
Het |
| Polr1g |
A |
T |
7: 19,091,817 (GRCm39) |
S97T |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,629,866 (GRCm39) |
D222G |
probably null |
Het |
| Prickle2 |
A |
T |
6: 92,683,096 (GRCm39) |
S11T |
probably benign |
Het |
| Prpf8 |
G |
A |
11: 75,385,608 (GRCm39) |
A930T |
probably benign |
Het |
| Prss40 |
G |
T |
1: 34,597,106 (GRCm39) |
H147Q |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,099,794 (GRCm39) |
D1766V |
probably benign |
Het |
| Qrich1 |
C |
T |
9: 108,411,519 (GRCm39) |
T348M |
probably benign |
Het |
| Slc20a1 |
T |
C |
2: 129,041,933 (GRCm39) |
Y99H |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,240,333 (GRCm39) |
V352A |
probably damaging |
Het |
| Ttll3 |
A |
G |
6: 113,385,970 (GRCm39) |
Q601R |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,507,078 (GRCm39) |
|
probably null |
Het |
| Washc4 |
A |
G |
10: 83,417,258 (GRCm39) |
|
probably benign |
Het |
| Zdhhc18 |
A |
T |
4: 133,342,541 (GRCm39) |
M191K |
possibly damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,894 (GRCm39) |
N624S |
probably benign |
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 |
|
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 |
|
|
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'- TTGGCTAACTCCACCCAAATG -3'
(R):5'- TTATATGTTCCTCTGCCACGGG -3'
Sequencing Primer
(F):5'- GGCTAACTCCACCCAAATGCATTG -3'
(R):5'- GGAATACCAGTGTATCTGACGTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation