Incidental Mutation 'IGL02190:Nutm1'
| ID |
283820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nutm1
|
| Ensembl Gene |
ENSMUSG00000041358 |
| Gene Name |
NUT midline carcinoma, family member 1 |
| Synonyms |
Nut, BC125332 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
112078293-112089636 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 112079751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 721
(W721*)
|
| 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 null
Transcript: ENSMUST00000043970
AA Change: W721*
|
| SMART Domains |
Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358
AA Change: W721*
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
C |
5: 129,217,788 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,172,620 (GRCm39) |
E521G |
probably benign |
Het |
| As3mt |
A |
T |
19: 46,708,384 (GRCm39) |
I224F |
probably benign |
Het |
| Atp5mf |
C |
A |
5: 145,120,642 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
A |
G |
17: 25,652,000 (GRCm39) |
V48A |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,208,397 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,800,190 (GRCm39) |
S1838R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,012,140 (GRCm39) |
R841G |
probably benign |
Het |
| Erbb3 |
A |
T |
10: 128,406,879 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
G |
T |
4: 62,223,059 (GRCm39) |
P947T |
possibly damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,495,469 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
G |
T |
5: 115,752,183 (GRCm39) |
V2100L |
probably damaging |
Het |
| Gemin5 |
A |
C |
11: 58,025,668 (GRCm39) |
V977G |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,068,332 (GRCm39) |
Y265N |
probably damaging |
Het |
| Gpx8 |
T |
C |
13: 113,179,843 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
| Ift172 |
C |
T |
5: 31,411,802 (GRCm39) |
V1587I |
possibly damaging |
Het |
| Lrrc45 |
A |
G |
11: 120,609,334 (GRCm39) |
T398A |
probably damaging |
Het |
| Mmrn1 |
G |
T |
6: 60,964,177 (GRCm39) |
V1059L |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,969,527 (GRCm39) |
D147G |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,488 (GRCm39) |
R847G |
possibly damaging |
Het |
| Or1j18 |
T |
C |
2: 36,624,591 (GRCm39) |
L86P |
probably benign |
Het |
| Or2j6 |
T |
C |
7: 139,980,033 (GRCm39) |
|
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,407 (GRCm39) |
M273T |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,893,004 (GRCm39) |
F227L |
probably benign |
Het |
| Ropn1l |
G |
T |
15: 31,443,487 (GRCm39) |
L182I |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scgb1a1 |
A |
T |
19: 9,065,231 (GRCm39) |
L12Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,944,325 (GRCm39) |
S237P |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,797,962 (GRCm39) |
Q207R |
possibly damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,435 (GRCm39) |
M1V |
probably null |
Het |
| Tox2 |
G |
A |
2: 163,164,926 (GRCm39) |
R522H |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,743,791 (GRCm39) |
N505K |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,870 (GRCm39) |
D444N |
unknown |
Het |
| Vmn1r174 |
A |
G |
7: 23,454,252 (GRCm39) |
E306G |
unknown |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,754 (GRCm39) |
F417L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,240 (GRCm39) |
M206K |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,672,038 (GRCm39) |
A592S |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation