Incidental Mutation 'R7294:Nutm1'
| ID |
566602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nutm1
|
| Ensembl Gene |
ENSMUSG00000041358 |
| Gene Name |
NUT midline carcinoma, family member 1 |
| Synonyms |
Nut, BC125332 |
| MMRRC Submission |
045399-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7294 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
112078293-112089636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112080401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 505
(R505C)
|
| 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: R505C
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048263
Gene: ENSMUSG00000041358
AA Change: R505C
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (49/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,650,541 (GRCm39) |
Y1216* |
probably null |
Het |
| Abca17 |
G |
A |
17: 24,539,983 (GRCm39) |
T415M |
not run |
Het |
| Adam1a |
G |
T |
5: 121,658,068 (GRCm39) |
C408* |
probably null |
Het |
| Adamts9 |
G |
A |
6: 92,871,270 (GRCm39) |
T603M |
probably damaging |
Het |
| Amdhd1 |
T |
C |
10: 93,370,301 (GRCm39) |
E179G |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,902,831 (GRCm39) |
T316A |
possibly damaging |
Het |
| Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
| C5ar1 |
T |
C |
7: 15,982,950 (GRCm39) |
I23M |
probably benign |
Het |
| Cd109 |
A |
T |
9: 78,619,917 (GRCm39) |
E1386D |
probably damaging |
Het |
| Cdcp1 |
C |
T |
9: 123,006,986 (GRCm39) |
C587Y |
probably benign |
Het |
| Cdh22 |
A |
C |
2: 164,984,013 (GRCm39) |
V413G |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,225,256 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
A |
G |
15: 97,885,168 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,756,005 (GRCm39) |
Y95N |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,783,782 (GRCm39) |
S178P |
possibly damaging |
Het |
| Fhod3 |
A |
G |
18: 25,266,037 (GRCm39) |
E1575G |
probably damaging |
Het |
| Gfpt2 |
C |
T |
11: 49,709,435 (GRCm39) |
R209* |
probably null |
Het |
| Heg1 |
T |
C |
16: 33,546,859 (GRCm39) |
S573P |
probably damaging |
Het |
| Hinfp |
A |
G |
9: 44,210,567 (GRCm39) |
C152R |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,211 (GRCm39) |
T38I |
probably benign |
Het |
| Jakmip1 |
T |
C |
5: 37,274,804 (GRCm39) |
F441L |
possibly damaging |
Het |
| Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
| Kpna4 |
A |
C |
3: 68,999,956 (GRCm39) |
|
probably null |
Het |
| Krt15 |
T |
A |
11: 100,022,848 (GRCm39) |
I456F |
possibly damaging |
Het |
| Leprotl1 |
A |
T |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,576,835 (GRCm39) |
T42S |
possibly damaging |
Het |
| Naa80 |
T |
G |
9: 107,460,182 (GRCm39) |
F26V |
possibly damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,852,578 (GRCm39) |
T419A |
probably benign |
Het |
| Or4c12 |
A |
C |
2: 89,774,068 (GRCm39) |
Y130* |
probably null |
Het |
| Or52b3 |
T |
A |
7: 102,204,160 (GRCm39) |
I223N |
probably damaging |
Het |
| Pax6 |
T |
A |
2: 105,515,246 (GRCm39) |
C66* |
probably null |
Het |
| Pde10a |
A |
T |
17: 8,975,853 (GRCm39) |
N53Y |
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,342,312 (GRCm39) |
N711S |
probably benign |
Het |
| Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
| Slc26a1 |
G |
T |
5: 108,821,698 (GRCm39) |
R80S |
possibly damaging |
Het |
| Slc2a4 |
T |
C |
11: 69,836,225 (GRCm39) |
D262G |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,163 (GRCm39) |
S226R |
probably benign |
Het |
| Srsf4 |
A |
G |
4: 131,627,772 (GRCm39) |
S289G |
unknown |
Het |
| Stil |
T |
C |
4: 114,864,480 (GRCm39) |
V127A |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,047,483 (GRCm39) |
|
probably null |
Het |
| Tbc1d22a |
T |
A |
15: 86,196,036 (GRCm39) |
Y336N |
possibly damaging |
Het |
| Tbc1d8 |
C |
T |
1: 39,445,843 (GRCm39) |
G116E |
probably damaging |
Het |
| Thrb |
A |
G |
14: 17,826,963 (GRCm38) |
|
probably benign |
Het |
| Timd5 |
T |
A |
11: 46,426,439 (GRCm39) |
I182K |
probably benign |
Het |
| Tln1 |
G |
T |
4: 43,534,399 (GRCm39) |
H2253Q |
probably benign |
Het |
| Tmem131 |
A |
C |
1: 36,893,928 (GRCm39) |
N158K |
possibly damaging |
Het |
| Toporsl |
A |
C |
4: 52,611,903 (GRCm39) |
T599P |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
| Triobp |
C |
T |
15: 78,858,176 (GRCm39) |
A1259V |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,395,411 (GRCm39) |
I392T |
possibly 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 |
|
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 |
|
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'- CTGTACATCCCAGCTGCTAG -3'
(R):5'- AAGGCTCACAGCTCTAACGC -3'
Sequencing Primer
(F):5'- AGGGGATGGCAGATTATTTCCATCC -3'
(R):5'- CGCAGAGAGAGCTACAGTATCTATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation