Incidental Mutation 'R6735:Naa35'
| ID |
530197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Naa35
|
| Ensembl Gene |
ENSMUSG00000021555 |
| Gene Name |
N(alpha)-acetyltransferase 35, NatC auxiliary subunit |
| Synonyms |
Mak10, A330027C19Rik, C030004C14Rik, A330021G12Rik |
| MMRRC Submission |
044853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R6735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59733147-59782612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59773378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 111
(L111P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022038]
[ENSMUST00000165253]
[ENSMUST00000172419]
|
| AlphaFold |
Q6PHQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022038
AA Change: L512P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022038
Gene: ENSMUSG00000021555
AA Change: L512P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
45 |
145 |
2.2e-29 |
PFAM |
|
Pfam:Mak10
|
141 |
194 |
3.7e-10 |
PFAM |
|
low complexity region
|
561 |
568 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165129
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165253
AA Change: L111P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224194
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172419
|
| SMART Domains |
Protein: ENSMUSP00000126079
Gene: ENSMUSG00000021555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
40 |
193 |
1.2e-55 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,026,274 (GRCm39) |
T265A |
probably benign |
Het |
| Adap1 |
A |
T |
5: 139,278,900 (GRCm39) |
Y127N |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,189 (GRCm39) |
F246S |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,518,098 (GRCm39) |
Y68H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,966 (GRCm39) |
S906P |
probably benign |
Het |
| C9 |
A |
T |
15: 6,519,387 (GRCm39) |
D408V |
probably benign |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,874,700 (GRCm39) |
Y174N |
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,683,351 (GRCm39) |
Y289H |
probably damaging |
Het |
| Erbin |
A |
T |
13: 104,020,718 (GRCm39) |
D80E |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,910,182 (GRCm39) |
E829V |
possibly damaging |
Het |
| Foxn2 |
T |
G |
17: 88,794,223 (GRCm39) |
S387A |
probably benign |
Het |
| Hapstr1 |
T |
A |
16: 8,673,764 (GRCm39) |
H230Q |
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,106,619 (GRCm39) |
L201S |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Lhx6 |
T |
G |
2: 35,981,390 (GRCm39) |
D67A |
probably damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,807,121 (GRCm39) |
M220K |
probably damaging |
Het |
| Macroh2a2 |
A |
G |
10: 61,577,046 (GRCm39) |
I274T |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,041,902 (GRCm39) |
V1307E |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,320,859 (GRCm39) |
M77L |
probably benign |
Het |
| Or5m11b |
A |
C |
2: 85,805,778 (GRCm39) |
S64R |
possibly damaging |
Het |
| Pigz |
A |
G |
16: 31,764,361 (GRCm39) |
N473S |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,628,195 (GRCm39) |
D423G |
probably damaging |
Het |
| Plac8 |
A |
G |
5: 100,710,485 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
T |
C |
18: 42,821,653 (GRCm39) |
|
probably null |
Het |
| Proc |
T |
C |
18: 32,256,701 (GRCm39) |
N322S |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,573,398 (GRCm39) |
|
probably null |
Het |
| Safb |
A |
G |
17: 56,892,169 (GRCm39) |
|
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,341,486 (GRCm39) |
D216G |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,215,048 (GRCm39) |
E345G |
possibly damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,398,983 (GRCm39) |
K197* |
probably null |
Het |
| Suv39h1 |
C |
A |
X: 7,929,138 (GRCm39) |
R397L |
probably damaging |
Homo |
| Thbs4 |
T |
A |
13: 92,891,674 (GRCm39) |
M814L |
possibly damaging |
Het |
| Tmem14a |
T |
A |
1: 21,299,805 (GRCm39) |
|
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,159 (GRCm39) |
A167S |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,629,252 (GRCm39) |
C14362F |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,004,272 (GRCm39) |
I161V |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,138 (GRCm39) |
L134P |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,713,586 (GRCm39) |
E73G |
possibly damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,358,402 (GRCm39) |
M617K |
possibly damaging |
Het |
| Zc3h3 |
G |
A |
15: 75,628,483 (GRCm39) |
T937I |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 45,000,028 (GRCm39) |
V25M |
probably null |
Het |
| Zfp108 |
T |
C |
7: 23,961,197 (GRCm39) |
F596S |
probably damaging |
Het |
| Zfyve1 |
T |
A |
12: 83,641,618 (GRCm39) |
N13Y |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,754,105 (GRCm39) |
D185G |
probably benign |
Het |
|
| Other mutations in Naa35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Naa35
|
APN |
13 |
59,777,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00743:Naa35
|
APN |
13 |
59,778,485 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01335:Naa35
|
APN |
13 |
59,764,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01385:Naa35
|
APN |
13 |
59,748,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01541:Naa35
|
APN |
13 |
59,748,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02129:Naa35
|
APN |
13 |
59,757,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02867:Naa35
|
APN |
13 |
59,756,668 (GRCm39) |
intron |
probably benign |
|
|
IGL02966:Naa35
|
APN |
13 |
59,734,085 (GRCm39) |
missense |
probably benign |
|
|
IGL03260:Naa35
|
APN |
13 |
59,775,699 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0312:Naa35
|
UTSW |
13 |
59,757,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0557:Naa35
|
UTSW |
13 |
59,775,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1553:Naa35
|
UTSW |
13 |
59,766,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1611:Naa35
|
UTSW |
13 |
59,776,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1676:Naa35
|
UTSW |
13 |
59,760,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3709:Naa35
|
UTSW |
13 |
59,765,846 (GRCm39) |
splice site |
probably benign |
|
|
R3896:Naa35
|
UTSW |
13 |
59,755,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Naa35
|
UTSW |
13 |
59,773,345 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5647:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5649:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5650:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R5656:Naa35
|
UTSW |
13 |
59,770,680 (GRCm39) |
unclassified |
probably benign |
|
|
R6734:Naa35
|
UTSW |
13 |
59,756,005 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6985:Naa35
|
UTSW |
13 |
59,775,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7165:Naa35
|
UTSW |
13 |
59,733,997 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7531:Naa35
|
UTSW |
13 |
59,765,755 (GRCm39) |
nonsense |
probably null |
|
|
R7713:Naa35
|
UTSW |
13 |
59,745,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7739:Naa35
|
UTSW |
13 |
59,747,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Naa35
|
UTSW |
13 |
59,734,036 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8818:Naa35
|
UTSW |
13 |
59,748,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Naa35
|
UTSW |
13 |
59,775,775 (GRCm39) |
missense |
probably benign |
|
|
R9006:Naa35
|
UTSW |
13 |
59,748,842 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9132:Naa35
|
UTSW |
13 |
59,772,341 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9403:Naa35
|
UTSW |
13 |
59,748,817 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGAGATTTACATCTTCTGCTC -3'
(R):5'- AGTAACCTGGGGATTGCAGTC -3'
Sequencing Primer
(F):5'- TCTCTTACTATCTGACTAATTGACCC -3'
(R):5'- ATTGCAGTCCAGCTGGCATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation