Incidental Mutation 'R7713:Naa35'
ID |
594750 |
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 |
045771-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R7713 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
59733147-59782612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59745919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 75
(I75T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022038]
[ENSMUST00000164011]
[ENSMUST00000166923]
[ENSMUST00000168367]
[ENSMUST00000172419]
|
AlphaFold |
Q6PHQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022038
AA Change: I75T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000022038 Gene: ENSMUSG00000021555 AA Change: I75T
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 |
probably benign
Transcript: ENSMUST00000164011
|
SMART Domains |
Protein: ENSMUSP00000127270 Gene: ENSMUSG00000021555
Domain | Start | End | E-Value | Type |
Pfam:Mak10
|
1 |
119 |
1.9e-37 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000128097 Gene: ENSMUSG00000021555 AA Change: I75T
Domain | Start | End | E-Value | Type |
Pfam:Mak10
|
44 |
188 |
1.1e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168367
AA Change: I75T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000127466 Gene: ENSMUSG00000021555 AA Change: I75T
Domain | Start | End | E-Value | Type |
Pfam:Mak10
|
44 |
111 |
3.1e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172419
AA Change: I71T
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000126079 Gene: ENSMUSG00000021555 AA Change: I71T
Domain | Start | End | E-Value | Type |
Pfam:Mak10
|
40 |
193 |
1.2e-55 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,066,173 (GRCm39) |
S119P |
possibly damaging |
Het |
Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
Armh1 |
A |
T |
4: 117,071,425 (GRCm39) |
M355K |
possibly damaging |
Het |
Cep128 |
A |
T |
12: 90,986,096 (GRCm39) |
D1013E |
probably benign |
Het |
Clock |
A |
T |
5: 76,393,267 (GRCm39) |
|
probably null |
Het |
Cspg4b |
T |
G |
13: 113,483,075 (GRCm39) |
V1559G |
|
Het |
D630003M21Rik |
G |
A |
2: 158,058,698 (GRCm39) |
Q401* |
probably null |
Het |
Dnah17 |
C |
A |
11: 117,915,997 (GRCm39) |
V4302L |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,261,386 (GRCm39) |
Y179C |
probably benign |
Het |
Erbb3 |
T |
C |
10: 128,410,318 (GRCm39) |
T647A |
probably benign |
Het |
Esrp2 |
T |
C |
8: 106,860,908 (GRCm39) |
T205A |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,874,872 (GRCm39) |
|
probably null |
Het |
Fmn1 |
C |
T |
2: 113,356,159 (GRCm39) |
P965S |
unknown |
Het |
Fndc7 |
C |
T |
3: 108,777,979 (GRCm39) |
V412M |
possibly damaging |
Het |
G2e3 |
C |
A |
12: 51,415,839 (GRCm39) |
A525E |
probably damaging |
Het |
Gcfc2 |
C |
T |
6: 81,918,371 (GRCm39) |
R354C |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,421,508 (GRCm39) |
N510K |
probably damaging |
Het |
Gnas |
C |
T |
2: 174,140,820 (GRCm39) |
T389I |
unknown |
Het |
Hapln3 |
C |
T |
7: 78,767,121 (GRCm39) |
R306H |
probably benign |
Het |
Hydin |
T |
C |
8: 111,320,444 (GRCm39) |
L4496P |
possibly damaging |
Het |
Iqgap2 |
T |
A |
13: 95,867,952 (GRCm39) |
I219L |
probably benign |
Het |
Kcnj2 |
T |
C |
11: 110,963,309 (GRCm39) |
S234P |
probably benign |
Het |
Lipf |
T |
A |
19: 33,950,465 (GRCm39) |
S286T |
probably damaging |
Het |
Lrrc32 |
G |
T |
7: 98,148,545 (GRCm39) |
G442W |
probably damaging |
Het |
Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
Mtmr4 |
T |
C |
11: 87,488,550 (GRCm39) |
V68A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,055,754 (GRCm39) |
S1146P |
possibly damaging |
Het |
Nepn |
T |
A |
10: 52,277,274 (GRCm39) |
F337I |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,316,432 (GRCm39) |
M496V |
probably benign |
Het |
Nthl1 |
A |
T |
17: 24,857,631 (GRCm39) |
I277F |
possibly damaging |
Het |
Or10a3 |
A |
C |
7: 108,479,889 (GRCm39) |
I308S |
probably damaging |
Het |
Or4p8 |
T |
C |
2: 88,728,122 (GRCm39) |
|
probably benign |
Het |
Osr1 |
A |
T |
12: 9,629,253 (GRCm39) |
Y42F |
probably damaging |
Het |
Rad54l2 |
G |
A |
9: 106,594,422 (GRCm39) |
R369W |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,465,691 (GRCm39) |
T4828S |
probably benign |
Het |
Slc25a54 |
T |
A |
3: 109,010,133 (GRCm39) |
C211S |
probably damaging |
Het |
Ube4b |
C |
T |
4: 149,483,238 (GRCm39) |
R10Q |
possibly damaging |
Het |
Usp9y |
G |
A |
Y: 1,304,411 (GRCm39) |
Q2440* |
probably null |
Het |
Yars1 |
G |
T |
4: 129,104,291 (GRCm39) |
V312L |
probably benign |
Het |
Zfp26 |
G |
A |
9: 20,352,630 (GRCm39) |
T145I |
probably benign |
Het |
Zic5 |
T |
C |
14: 122,701,525 (GRCm39) |
N402S |
unknown |
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 |
R6735:Naa35
|
UTSW |
13 |
59,773,378 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- AGTTAGTGTATTTGTCCTAACTGATGA -3'
(R):5'- TGCTAATTCTTATGTCTGAGAAGATTG -3'
Sequencing Primer
(F):5'- CTGTAGTTGCTAAAAGCATCAT -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
|
Posted On |
2019-11-12 |