Incidental Mutation 'R0030:Ttc39a'
ID |
15369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc39a
|
Ensembl Gene |
ENSMUSG00000028555 |
Gene Name |
tetratricopeptide repeat domain 39A |
Synonyms |
4922503N01Rik |
MMRRC Submission |
038324-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0030 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
109263820-109301942 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 109280170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 151
(H151N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064129]
[ENSMUST00000106618]
[ENSMUST00000106619]
[ENSMUST00000124209]
[ENSMUST00000139237]
[ENSMUST00000153315]
|
AlphaFold |
A2ACP1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064129
|
SMART Domains |
Protein: ENSMUSP00000066334 Gene: ENSMUSG00000028555
Domain | Start | End | E-Value | Type |
TPR
|
278 |
311 |
7.69e1 |
SMART |
TPR
|
468 |
501 |
6.57e1 |
SMART |
TPR
|
509 |
542 |
1.42e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106618
|
SMART Domains |
Protein: ENSMUSP00000102229 Gene: ENSMUSG00000028555
Domain | Start | End | E-Value | Type |
TPR
|
280 |
313 |
7.69e1 |
SMART |
TPR
|
470 |
503 |
6.57e1 |
SMART |
TPR
|
511 |
544 |
1.42e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106619
AA Change: H151N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102230 Gene: ENSMUSG00000028555 AA Change: H151N
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
27 |
143 |
1e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124209
|
SMART Domains |
Protein: ENSMUSP00000118672 Gene: ENSMUSG00000028555
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
1 |
137 |
6.6e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126797
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139237
|
SMART Domains |
Protein: ENSMUSP00000121779 Gene: ENSMUSG00000028555
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
1 |
109 |
7.2e-40 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150909
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153315
|
SMART Domains |
Protein: ENSMUSP00000117621 Gene: ENSMUSG00000028555
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
1 |
160 |
2.6e-53 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 78.5%
- 3x: 68.6%
- 10x: 42.5%
- 20x: 22.6%
|
Validation Efficiency |
97% (72/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp2 |
A |
C |
6: 140,583,473 (GRCm39) |
S316R |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,822,456 (GRCm39) |
S1250P |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
Cass4 |
G |
T |
2: 172,269,762 (GRCm39) |
E617* |
probably null |
Het |
Cct4 |
T |
C |
11: 22,951,357 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
C |
T |
1: 110,065,798 (GRCm39) |
Q691* |
probably null |
Het |
Crip1 |
G |
A |
12: 113,116,996 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
T |
15: 28,451,663 (GRCm39) |
D4367V |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,789,512 (GRCm39) |
V1514A |
possibly damaging |
Het |
Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
Faap24 |
A |
T |
7: 35,092,285 (GRCm39) |
F211I |
probably damaging |
Het |
Flrt3 |
A |
T |
2: 140,502,237 (GRCm39) |
Y464N |
probably damaging |
Het |
Foxi2 |
A |
G |
7: 135,013,345 (GRCm39) |
T192A |
probably damaging |
Het |
Gm7298 |
T |
A |
6: 121,751,009 (GRCm39) |
F695L |
probably benign |
Het |
Ifnk |
T |
G |
4: 35,152,489 (GRCm39) |
V139G |
probably benign |
Het |
Kif18a |
A |
T |
2: 109,163,663 (GRCm39) |
I671L |
probably benign |
Het |
Lcn10 |
T |
C |
2: 25,575,093 (GRCm39) |
F154L |
probably damaging |
Het |
Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
Mmp23 |
G |
A |
4: 155,735,768 (GRCm39) |
R268* |
probably null |
Het |
Mrps30 |
T |
C |
13: 118,519,531 (GRCm39) |
D298G |
possibly damaging |
Het |
Myh7 |
T |
A |
14: 55,229,427 (GRCm39) |
T124S |
probably benign |
Het |
Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
Ptchd4 |
T |
A |
17: 42,627,999 (GRCm39) |
C153* |
probably null |
Het |
Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
Slc16a10 |
A |
G |
10: 39,952,819 (GRCm39) |
V225A |
probably benign |
Het |
Slc66a1 |
A |
G |
4: 139,033,764 (GRCm39) |
S52P |
probably damaging |
Het |
Tbk1 |
A |
G |
10: 121,397,529 (GRCm39) |
V381A |
probably benign |
Het |
Tdrd6 |
T |
C |
17: 43,937,482 (GRCm39) |
K1189E |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,554,854 (GRCm39) |
T3544M |
possibly damaging |
Het |
Vnn1 |
A |
G |
10: 23,776,744 (GRCm39) |
H365R |
probably benign |
Het |
|
Other mutations in Ttc39a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00870:Ttc39a
|
APN |
4 |
109,299,542 (GRCm39) |
splice site |
probably benign |
|
IGL01143:Ttc39a
|
APN |
4 |
109,300,010 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01802:Ttc39a
|
APN |
4 |
109,290,281 (GRCm39) |
nonsense |
probably null |
|
IGL01906:Ttc39a
|
APN |
4 |
109,278,591 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02115:Ttc39a
|
APN |
4 |
109,283,491 (GRCm39) |
splice site |
probably benign |
|
IGL02415:Ttc39a
|
APN |
4 |
109,288,726 (GRCm39) |
unclassified |
probably benign |
|
IGL02658:Ttc39a
|
APN |
4 |
109,280,090 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02728:Ttc39a
|
APN |
4 |
109,299,920 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03281:Ttc39a
|
APN |
4 |
109,290,219 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0103:Ttc39a
|
UTSW |
4 |
109,278,650 (GRCm39) |
splice site |
probably null |
|
R0194:Ttc39a
|
UTSW |
4 |
109,301,376 (GRCm39) |
missense |
probably benign |
|
R0561:Ttc39a
|
UTSW |
4 |
109,297,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R0603:Ttc39a
|
UTSW |
4 |
109,283,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Ttc39a
|
UTSW |
4 |
109,299,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R2203:Ttc39a
|
UTSW |
4 |
109,288,785 (GRCm39) |
missense |
probably benign |
0.19 |
R2473:Ttc39a
|
UTSW |
4 |
109,299,436 (GRCm39) |
missense |
probably damaging |
0.97 |
R4449:Ttc39a
|
UTSW |
4 |
109,299,500 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4809:Ttc39a
|
UTSW |
4 |
109,273,218 (GRCm39) |
nonsense |
probably null |
|
R5266:Ttc39a
|
UTSW |
4 |
109,279,701 (GRCm39) |
missense |
probably benign |
0.04 |
R5590:Ttc39a
|
UTSW |
4 |
109,290,184 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5911:Ttc39a
|
UTSW |
4 |
109,280,168 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5930:Ttc39a
|
UTSW |
4 |
109,288,075 (GRCm39) |
missense |
probably benign |
|
R7058:Ttc39a
|
UTSW |
4 |
109,288,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R7771:Ttc39a
|
UTSW |
4 |
109,288,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R7791:Ttc39a
|
UTSW |
4 |
109,283,544 (GRCm39) |
missense |
probably benign |
0.00 |
R7849:Ttc39a
|
UTSW |
4 |
109,279,687 (GRCm39) |
missense |
probably benign |
0.00 |
R8687:Ttc39a
|
UTSW |
4 |
109,288,776 (GRCm39) |
missense |
probably damaging |
0.97 |
R8723:Ttc39a
|
UTSW |
4 |
109,300,700 (GRCm39) |
splice site |
probably benign |
|
R9037:Ttc39a
|
UTSW |
4 |
109,299,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R9626:Ttc39a
|
UTSW |
4 |
109,278,570 (GRCm39) |
missense |
possibly damaging |
0.83 |
X0013:Ttc39a
|
UTSW |
4 |
109,290,334 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Ttc39a
|
UTSW |
4 |
109,288,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-17 |