Incidental Mutation 'IGL02888:Nutm1'
| ID |
363066 |
| 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 # |
IGL02888
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
112078293-112089636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112080980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 438
(L438Q)
|
| 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 damaging
Transcript: ENSMUST00000043970
AA Change: L438Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358
AA Change: L438Q
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,104,610 (GRCm39) |
H345R |
probably damaging |
Het |
| Afap1l1 |
T |
A |
18: 61,881,879 (GRCm39) |
Y272F |
probably damaging |
Het |
| AI661453 |
C |
A |
17: 47,778,329 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
T |
G |
4: 153,516,718 (GRCm39) |
I208L |
probably benign |
Het |
| Aldh3b2 |
G |
A |
19: 4,030,083 (GRCm39) |
V356M |
probably benign |
Het |
| Angptl7 |
T |
A |
4: 148,580,788 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,867,954 (GRCm39) |
|
probably benign |
Het |
| Birc2 |
T |
C |
9: 7,819,559 (GRCm39) |
D451G |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,047,365 (GRCm39) |
R1043H |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,457,862 (GRCm39) |
L132P |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,543,067 (GRCm39) |
D735G |
probably benign |
Het |
| Cldn8 |
A |
T |
16: 88,359,271 (GRCm39) |
I218K |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,648,123 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,718,068 (GRCm39) |
H619R |
unknown |
Het |
| Crxos |
G |
A |
7: 15,636,855 (GRCm39) |
E143K |
possibly damaging |
Het |
| Dcp1b |
A |
G |
6: 119,197,048 (GRCm39) |
|
probably benign |
Het |
| Ddc |
A |
G |
11: 11,772,297 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,057,261 (GRCm39) |
|
probably benign |
Het |
| Dnajc27 |
C |
T |
12: 4,139,186 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Fgd3 |
C |
T |
13: 49,435,292 (GRCm39) |
|
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,130,650 (GRCm39) |
D1414G |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,331,169 (GRCm39) |
P169L |
probably damaging |
Het |
| Ighv1-76 |
T |
A |
12: 115,811,566 (GRCm39) |
S96C |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,754,053 (GRCm39) |
I206K |
possibly damaging |
Het |
| Lypd5 |
A |
G |
7: 24,052,044 (GRCm39) |
S120G |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,123,159 (GRCm39) |
Y249N |
probably damaging |
Het |
| Msh4 |
A |
T |
3: 153,602,550 (GRCm39) |
L32* |
probably null |
Het |
| Muc4 |
A |
G |
16: 32,575,656 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,177,013 (GRCm39) |
|
probably benign |
Het |
| Nenf |
T |
C |
1: 191,042,118 (GRCm39) |
T113A |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,469,626 (GRCm39) |
D75G |
possibly damaging |
Het |
| Oas1h |
A |
T |
5: 120,999,610 (GRCm39) |
I32F |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,075,241 (GRCm39) |
V434M |
probably damaging |
Het |
| Or2a5 |
A |
G |
6: 42,874,263 (GRCm39) |
N293D |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,925 (GRCm39) |
L291P |
probably damaging |
Het |
| Pde2a |
C |
A |
7: 101,154,276 (GRCm39) |
H549Q |
probably damaging |
Het |
| Phkb |
G |
T |
8: 86,662,101 (GRCm39) |
|
probably null |
Het |
| Pigm |
T |
C |
1: 172,205,214 (GRCm39) |
C317R |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,918,271 (GRCm39) |
S470R |
possibly damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,669 (GRCm39) |
R91W |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,245,775 (GRCm39) |
D623E |
probably benign |
Het |
| Stx11 |
A |
G |
10: 12,817,359 (GRCm39) |
S122P |
possibly damaging |
Het |
| Sytl3 |
A |
G |
17: 7,000,483 (GRCm39) |
T218A |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,447,297 (GRCm39) |
D565G |
probably damaging |
Het |
| Tex14 |
T |
C |
11: 87,418,738 (GRCm39) |
|
probably null |
Het |
| Tinag |
T |
C |
9: 76,938,995 (GRCm39) |
D161G |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,795,011 (GRCm39) |
D1120G |
probably damaging |
Het |
| Zfp446 |
G |
A |
7: 12,713,255 (GRCm39) |
A98T |
probably damaging |
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 |
|
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 |
2015-12-18 |
Incidental Mutation