Incidental Mutation 'R5922:Nutm1'
ID |
461619 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nutm1
|
Ensembl Gene |
ENSMUSG00000041358 |
Gene Name |
NUT midline carcinoma, family member 1 |
Synonyms |
Nut, BC125332 |
MMRRC Submission |
043240-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5922 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
112078293-112089636 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112079659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 752
(E752G)
|
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: E752G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000048263 Gene: ENSMUSG00000041358 AA Change: E752G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129503
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
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 |
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 |
R8713:Nutm1
|
UTSW |
2 |
112,081,667 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- GGGCTCAGCGCTTGATTTTC -3'
(R):5'- GAGGTCCTGGTATGCTTCAGAG -3'
Sequencing Primer
(F):5'- TTTGGACCTCAAACCTGGAC -3'
(R):5'- CCTGGTATGCTTCAGAGTTACAGTC -3'
|
Posted On |
2017-02-28 |