Incidental Mutation 'R2187:Nutm2'
ID |
237894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nutm2
|
Ensembl Gene |
ENSMUSG00000071909 |
Gene Name |
NUT family member 2 |
Synonyms |
LOC328250, Gm806 |
MMRRC Submission |
040189-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2187 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
50621343-50629391 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 50621453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 6
(Q6L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096633]
|
AlphaFold |
Q3V0C3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096633
AA Change: Q6L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000094390 Gene: ENSMUSG00000071909 AA Change: Q6L
Domain | Start | End | E-Value | Type |
Pfam:NUT
|
27 |
733 |
9e-277 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185962
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
A |
17: 31,324,491 (GRCm39) |
S245R |
probably damaging |
Het |
AI597479 |
T |
A |
1: 43,139,983 (GRCm39) |
W70R |
probably damaging |
Het |
Ankrd55 |
A |
G |
13: 112,520,039 (GRCm39) |
S575G |
probably benign |
Het |
Bfsp2 |
T |
A |
9: 103,303,976 (GRCm39) |
K343* |
probably null |
Het |
Cant1 |
A |
T |
11: 118,299,667 (GRCm39) |
Y227* |
probably null |
Het |
Cd2bp2 |
T |
C |
7: 126,793,963 (GRCm39) |
N109D |
probably benign |
Het |
Chmp6 |
A |
G |
11: 119,807,562 (GRCm39) |
E135G |
possibly damaging |
Het |
Dsp |
T |
G |
13: 38,360,383 (GRCm39) |
S329R |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,234,223 (GRCm39) |
F767L |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,942,648 (GRCm39) |
T566S |
possibly damaging |
Het |
Erap1 |
A |
T |
13: 74,810,524 (GRCm39) |
I288F |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,537,266 (GRCm39) |
|
probably null |
Het |
Fbxo10 |
A |
G |
4: 45,058,531 (GRCm39) |
V402A |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,960,604 (GRCm39) |
I1604F |
probably damaging |
Het |
Foxd4 |
T |
G |
19: 24,877,219 (GRCm39) |
Q327P |
probably damaging |
Het |
Fxn |
T |
A |
19: 24,257,853 (GRCm39) |
N26I |
probably benign |
Het |
Hsf5 |
G |
T |
11: 87,529,010 (GRCm39) |
G582C |
possibly damaging |
Het |
Itga8 |
A |
G |
2: 12,199,231 (GRCm39) |
V522A |
possibly damaging |
Het |
Kplce |
A |
G |
3: 92,775,922 (GRCm39) |
S254P |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,883,926 (GRCm39) |
T2938I |
possibly damaging |
Het |
Mib2 |
T |
C |
4: 155,739,390 (GRCm39) |
E863G |
possibly damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,884,797 (GRCm39) |
F290S |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,961,539 (GRCm39) |
Y599H |
possibly damaging |
Het |
Mylk4 |
T |
C |
13: 32,905,996 (GRCm39) |
I165V |
probably damaging |
Het |
Nipsnap2 |
T |
C |
5: 129,823,537 (GRCm39) |
|
probably null |
Het |
Nol8 |
T |
C |
13: 49,815,475 (GRCm39) |
Y528H |
probably benign |
Het |
Nup93 |
T |
A |
8: 95,027,478 (GRCm39) |
S295R |
probably damaging |
Het |
Or2b6 |
A |
T |
13: 21,823,555 (GRCm39) |
I46N |
probably damaging |
Het |
Or5ak20 |
T |
G |
2: 85,184,259 (GRCm39) |
S4R |
probably benign |
Het |
Or5b12b |
T |
A |
19: 12,861,619 (GRCm39) |
C125S |
probably damaging |
Het |
Or6c33 |
A |
G |
10: 129,853,557 (GRCm39) |
E109G |
probably damaging |
Het |
Pip5k1a |
A |
T |
3: 94,979,229 (GRCm39) |
L189Q |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,198,698 (GRCm39) |
R574C |
probably damaging |
Het |
Ppp2cb |
A |
G |
8: 34,100,705 (GRCm39) |
E42G |
possibly damaging |
Het |
Prkd3 |
T |
A |
17: 79,282,983 (GRCm39) |
Q244L |
probably benign |
Het |
Ptpn14 |
C |
T |
1: 189,595,425 (GRCm39) |
R1023* |
probably null |
Het |
Ptpra |
A |
G |
2: 130,346,219 (GRCm39) |
T127A |
probably benign |
Het |
Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
Rasgrf1 |
T |
C |
9: 89,876,888 (GRCm39) |
I751T |
possibly damaging |
Het |
Rbm27 |
A |
G |
18: 42,459,022 (GRCm39) |
K697R |
probably damaging |
Het |
Rhoa |
C |
T |
9: 108,212,352 (GRCm39) |
T127M |
probably benign |
Het |
Rnpepl1 |
A |
G |
1: 92,844,617 (GRCm39) |
S370G |
probably null |
Het |
Sdk1 |
C |
T |
5: 142,100,329 (GRCm39) |
T1453I |
probably damaging |
Het |
Sel1l2 |
A |
G |
2: 140,072,793 (GRCm39) |
L614S |
probably damaging |
Het |
Slc6a20b |
T |
A |
9: 123,427,653 (GRCm39) |
I419F |
probably damaging |
Het |
Slc8a1 |
C |
T |
17: 81,955,982 (GRCm39) |
S352N |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,020,532 (GRCm39) |
D547G |
probably damaging |
Het |
Tc2n |
G |
A |
12: 101,672,803 (GRCm39) |
T46I |
probably damaging |
Het |
Terb1 |
T |
A |
8: 105,199,516 (GRCm39) |
Y476F |
probably benign |
Het |
Trim12a |
T |
A |
7: 103,953,399 (GRCm39) |
E237D |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,666,398 (GRCm39) |
L309P |
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 |
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 |
|
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'- GCCAAGGTTCTTATGCACCTG -3'
(R):5'- CTTCACAGTGGGATGTCCTTG -3'
Sequencing Primer
(F):5'- GGAATGTTCCCCCAGTCCTG -3'
(R):5'- ATGTCCTTGCAGAAGTCCAG -3'
|
Posted On |
2014-10-02 |