Incidental Mutation 'R1314:Nutm1'
ID |
157495 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nutm1
|
Ensembl Gene |
ENSMUSG00000041358 |
Gene Name |
NUT midline carcinoma, family member 1 |
Synonyms |
Nut, BC125332 |
MMRRC Submission |
039380-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1314 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
112078293-112089636 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112080154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 587
(I587T)
|
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 |
probably benign
Transcript: ENSMUST00000043970
AA Change: I587T
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000048263 Gene: ENSMUSG00000041358 AA Change: I587T
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: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
A |
G |
12: 21,379,072 (GRCm39) |
L659P |
probably damaging |
Het |
Cachd1 |
G |
T |
4: 100,832,114 (GRCm39) |
G759C |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,034,418 (GRCm39) |
V95E |
probably damaging |
Het |
Elp1 |
T |
A |
4: 56,786,647 (GRCm39) |
H432L |
probably benign |
Het |
Filip1 |
T |
A |
9: 79,727,848 (GRCm39) |
H257L |
probably damaging |
Het |
Gfi1 |
A |
T |
5: 107,869,740 (GRCm39) |
|
probably null |
Het |
Golim4 |
T |
C |
3: 75,793,595 (GRCm39) |
E579G |
probably damaging |
Het |
Kcnip1 |
A |
G |
11: 33,592,481 (GRCm39) |
W140R |
probably damaging |
Het |
Or4c10b |
A |
G |
2: 89,711,221 (GRCm39) |
E17G |
probably benign |
Het |
Prkag3 |
A |
G |
1: 74,786,343 (GRCm39) |
S201P |
probably damaging |
Het |
Prkdc |
C |
T |
16: 15,482,091 (GRCm39) |
A378V |
possibly damaging |
Het |
Rarb |
A |
G |
14: 16,508,932 (GRCm38) |
|
probably null |
Het |
Rfc2 |
T |
A |
5: 134,620,054 (GRCm39) |
N167K |
probably damaging |
Het |
Rnf43 |
A |
G |
11: 87,623,145 (GRCm39) |
T749A |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Tectb |
A |
G |
19: 55,172,417 (GRCm39) |
N155D |
probably damaging |
Het |
Tnpo1 |
G |
A |
13: 98,997,230 (GRCm39) |
P400S |
probably damaging |
Het |
Ugt8a |
T |
C |
3: 125,665,397 (GRCm39) |
T367A |
probably benign |
Het |
Vmn2r39 |
A |
T |
7: 9,017,981 (GRCm39) |
M785K |
probably damaging |
Het |
Zfp819 |
C |
T |
7: 43,266,480 (GRCm39) |
T321I |
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 |
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 |
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'- ACCACTGAAGGTGGTTCTCTTCCTC -3'
(R):5'- AACAAACACTAGGTGGTCCAGCG -3'
Sequencing Primer
(F):5'- CTATCTGCAATGTCAAAGCCTG -3'
(R):5'- TCCAGCGGGGATTCACAAG -3'
|
Posted On |
2014-02-18 |