Incidental Mutation 'R8713:Nutm1'
ID |
669694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nutm1
|
Ensembl Gene |
ENSMUSG00000041358 |
Gene Name |
NUT midline carcinoma, family member 1 |
Synonyms |
Nut, BC125332 |
MMRRC Submission |
068567-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8713 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
112078293-112089636 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112081667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 332
(V332A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028554]
[ENSMUST00000043970]
|
AlphaFold |
Q8BHP2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028554
|
SMART Domains |
Protein: ENSMUSP00000028554 Gene: ENSMUSG00000027134
Domain | Start | End | E-Value | Type |
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
low complexity region
|
92 |
113 |
N/A |
INTRINSIC |
PlsC
|
123 |
234 |
5.73e-24 |
SMART |
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043970
AA Change: V332A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048263 Gene: ENSMUSG00000041358 AA Change: V332A
Domain | Start | End | E-Value | Type |
Pfam:NUT
|
14 |
541 |
1.4e-210 |
PFAM |
low complexity region
|
840 |
854 |
N/A |
INTRINSIC |
Pfam:NUT
|
900 |
1123 |
6.7e-40 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
Adam18 |
T |
A |
8: 25,142,189 (GRCm39) |
M196L |
probably benign |
Het |
Ankrd10 |
A |
G |
8: 11,678,491 (GRCm39) |
S134P |
probably damaging |
Het |
Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
Arl6ip4 |
T |
C |
5: 124,254,825 (GRCm39) |
V4A |
unknown |
Het |
Cabp4 |
C |
T |
19: 4,186,159 (GRCm39) |
M247I |
probably benign |
Het |
Ccdc30 |
A |
T |
4: 119,261,404 (GRCm39) |
L11Q |
probably damaging |
Het |
Cdkl4 |
A |
G |
17: 80,841,292 (GRCm39) |
S288P |
possibly damaging |
Het |
Celsr3 |
A |
G |
9: 108,707,062 (GRCm39) |
I1182V |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,979,028 (GRCm39) |
D1788G |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,352,701 (GRCm39) |
D193G |
probably damaging |
Het |
Dym |
T |
G |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
Dync2h1 |
G |
A |
9: 7,141,008 (GRCm39) |
Q1340* |
probably null |
Het |
Elmo1 |
T |
C |
13: 20,458,791 (GRCm39) |
|
probably benign |
Het |
Fbxw15 |
A |
C |
9: 109,384,667 (GRCm39) |
F378V |
possibly damaging |
Het |
Fsip2 |
G |
A |
2: 82,811,453 (GRCm39) |
G2591R |
probably damaging |
Het |
Gps2 |
C |
A |
11: 69,806,180 (GRCm39) |
D148E |
probably benign |
Het |
Iars2 |
T |
C |
1: 185,023,615 (GRCm39) |
D772G |
possibly damaging |
Het |
Ifit1 |
T |
A |
19: 34,625,038 (GRCm39) |
L58Q |
probably benign |
Het |
Kctd4 |
A |
T |
14: 76,200,366 (GRCm39) |
Q112H |
probably benign |
Het |
Letm1 |
A |
G |
5: 33,919,849 (GRCm39) |
L230P |
probably damaging |
Het |
Lrch4 |
G |
T |
5: 137,638,125 (GRCm39) |
E136* |
probably null |
Het |
Macc1 |
T |
C |
12: 119,407,261 (GRCm39) |
|
probably benign |
Het |
Macrod1 |
T |
C |
19: 7,034,494 (GRCm39) |
L79P |
probably benign |
Het |
Map2 |
T |
A |
1: 66,453,781 (GRCm39) |
N890K |
probably damaging |
Het |
Mctp1 |
G |
A |
13: 76,789,922 (GRCm39) |
S270N |
probably benign |
Het |
Mrpl44 |
C |
T |
1: 79,755,708 (GRCm39) |
R105C |
probably damaging |
Het |
Mtg1 |
T |
A |
7: 139,717,688 (GRCm39) |
|
probably null |
Het |
Mtg1 |
T |
C |
7: 139,720,136 (GRCm39) |
F68L |
probably benign |
Het |
Nfil3 |
A |
G |
13: 53,122,047 (GRCm39) |
S286P |
possibly damaging |
Het |
Obscn |
T |
A |
11: 59,026,792 (GRCm39) |
Q137L |
probably benign |
Het |
Pcnx2 |
T |
G |
8: 126,545,525 (GRCm39) |
E1162A |
probably damaging |
Het |
Pgr |
A |
G |
9: 8,900,818 (GRCm39) |
D117G |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,513,345 (GRCm39) |
C215R |
probably benign |
Het |
Rrm1 |
T |
G |
7: 102,109,558 (GRCm39) |
Y461D |
probably damaging |
Het |
Sbk3 |
C |
T |
7: 4,972,991 (GRCm39) |
V60I |
possibly damaging |
Het |
Scube1 |
G |
T |
15: 83,494,471 (GRCm39) |
A852E |
possibly damaging |
Het |
Sec24d |
T |
A |
3: 123,137,541 (GRCm39) |
I561N |
probably damaging |
Het |
Slc16a4 |
T |
C |
3: 107,218,901 (GRCm39) |
*501Q |
probably null |
Het |
Slc6a19 |
C |
A |
13: 73,848,740 (GRCm39) |
V5L |
probably benign |
Het |
Spryd3 |
A |
G |
15: 102,041,920 (GRCm39) |
I34T |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,266,040 (GRCm39) |
L2191P |
probably damaging |
Het |
Tbrg1 |
A |
G |
9: 37,563,955 (GRCm39) |
C227R |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,935,910 (GRCm39) |
S1713P |
probably benign |
Het |
Thap12 |
C |
T |
7: 98,356,283 (GRCm39) |
L57F |
probably benign |
Het |
Top1 |
G |
A |
2: 160,559,360 (GRCm39) |
V628I |
probably damaging |
Het |
Trim67 |
A |
G |
8: 125,547,074 (GRCm39) |
M495V |
probably null |
Het |
Trio |
A |
C |
15: 27,744,037 (GRCm39) |
|
probably benign |
Het |
Vmn2r23 |
A |
T |
6: 123,679,991 (GRCm39) |
Y71F |
|
Het |
Ywhah |
A |
G |
5: 33,184,535 (GRCm39) |
N246S |
probably benign |
Het |
Zcwpw1 |
T |
C |
5: 137,797,794 (GRCm39) |
I125T |
probably benign |
Het |
|
Other mutations in Nutm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01557:Nutm1
|
APN |
2 |
112,082,163 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02190:Nutm1
|
APN |
2 |
112,079,751 (GRCm39) |
nonsense |
probably null |
|
IGL02546:Nutm1
|
APN |
2 |
112,078,669 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02888:Nutm1
|
APN |
2 |
112,080,980 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03062:Nutm1
|
APN |
2 |
112,079,278 (GRCm39) |
missense |
probably benign |
0.16 |
R1024:Nutm1
|
UTSW |
2 |
112,080,274 (GRCm39) |
missense |
probably benign |
0.35 |
R1314:Nutm1
|
UTSW |
2 |
112,080,154 (GRCm39) |
missense |
probably benign |
0.10 |
R2061:Nutm1
|
UTSW |
2 |
112,086,097 (GRCm39) |
nonsense |
probably null |
|
R4092:Nutm1
|
UTSW |
2 |
112,079,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R4402:Nutm1
|
UTSW |
2 |
112,080,154 (GRCm39) |
missense |
probably damaging |
0.99 |
R4783:Nutm1
|
UTSW |
2 |
112,079,281 (GRCm39) |
missense |
probably benign |
0.00 |
R4784:Nutm1
|
UTSW |
2 |
112,079,281 (GRCm39) |
missense |
probably benign |
0.00 |
R4785:Nutm1
|
UTSW |
2 |
112,079,281 (GRCm39) |
missense |
probably benign |
0.00 |
R5184:Nutm1
|
UTSW |
2 |
112,079,345 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5662:Nutm1
|
UTSW |
2 |
112,079,645 (GRCm39) |
missense |
probably benign |
0.01 |
R5922:Nutm1
|
UTSW |
2 |
112,079,659 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6053:Nutm1
|
UTSW |
2 |
112,079,435 (GRCm39) |
missense |
probably benign |
0.01 |
R6344:Nutm1
|
UTSW |
2 |
112,079,247 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6410:Nutm1
|
UTSW |
2 |
112,079,074 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6515:Nutm1
|
UTSW |
2 |
112,086,665 (GRCm39) |
missense |
probably benign |
0.01 |
R6516:Nutm1
|
UTSW |
2 |
112,081,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6573:Nutm1
|
UTSW |
2 |
112,081,388 (GRCm39) |
critical splice donor site |
probably null |
|
R6950:Nutm1
|
UTSW |
2 |
112,078,904 (GRCm39) |
missense |
probably benign |
0.00 |
R6975:Nutm1
|
UTSW |
2 |
112,086,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Nutm1
|
UTSW |
2 |
112,086,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R7070:Nutm1
|
UTSW |
2 |
112,079,806 (GRCm39) |
missense |
probably benign |
|
R7072:Nutm1
|
UTSW |
2 |
112,082,192 (GRCm39) |
missense |
probably benign |
0.34 |
R7140:Nutm1
|
UTSW |
2 |
112,080,401 (GRCm39) |
missense |
probably damaging |
0.98 |
R7143:Nutm1
|
UTSW |
2 |
112,080,401 (GRCm39) |
missense |
probably damaging |
0.98 |
R7294:Nutm1
|
UTSW |
2 |
112,080,401 (GRCm39) |
missense |
probably damaging |
0.98 |
R7296:Nutm1
|
UTSW |
2 |
112,080,401 (GRCm39) |
missense |
probably damaging |
0.98 |
R7297:Nutm1
|
UTSW |
2 |
112,080,401 (GRCm39) |
missense |
probably damaging |
0.98 |
R7613:Nutm1
|
UTSW |
2 |
112,079,584 (GRCm39) |
missense |
probably benign |
0.00 |
R8162:Nutm1
|
UTSW |
2 |
112,078,817 (GRCm39) |
missense |
probably benign |
0.02 |
R8252:Nutm1
|
UTSW |
2 |
112,082,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R8857:Nutm1
|
UTSW |
2 |
112,081,523 (GRCm39) |
missense |
probably benign |
0.41 |
R9326:Nutm1
|
UTSW |
2 |
112,078,692 (GRCm39) |
missense |
possibly damaging |
0.86 |
X0065:Nutm1
|
UTSW |
2 |
112,078,972 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Nutm1
|
UTSW |
2 |
112,078,702 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Nutm1
|
UTSW |
2 |
112,086,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCCCAGTGTCCACGTAG -3'
(R):5'- ATCTGGATTGTGCATGAGTCCTATC -3'
Sequencing Primer
(F):5'- GTCCACGTAGCTTCCCATCAG -3'
(R):5'- ATCCTTTATCGGACATGGCG -3'
|
Posted On |
2021-04-30 |