Incidental Mutation 'R4449:Ttc39a'
ID |
328872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc39a
|
Ensembl Gene |
ENSMUSG00000028555 |
Gene Name |
tetratricopeptide repeat domain 39A |
Synonyms |
4922503N01Rik |
MMRRC Submission |
041710-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4449 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
109263820-109301942 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109299500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 449
(I449T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102229
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064129]
[ENSMUST00000106618]
|
AlphaFold |
A2ACP1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064129
AA Change: I447T
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000066334 Gene: ENSMUSG00000028555 AA Change: I447T
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 |
possibly damaging
Transcript: ENSMUST00000106618
AA Change: I449T
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102229 Gene: ENSMUSG00000028555 AA Change: I449T
Domain | Start | End | E-Value | Type |
TPR
|
280 |
313 |
7.69e1 |
SMART |
TPR
|
470 |
503 |
6.57e1 |
SMART |
TPR
|
511 |
544 |
1.42e0 |
SMART |
|
Meta Mutation Damage Score |
0.2109 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgap3 |
A |
T |
15: 83,218,759 (GRCm39) |
Y105N |
probably damaging |
Het |
Arid3b |
T |
A |
9: 57,705,404 (GRCm39) |
K266* |
probably null |
Het |
Bend3 |
A |
G |
10: 43,388,079 (GRCm39) |
E824G |
possibly damaging |
Het |
Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
Cadm1 |
T |
A |
9: 47,725,286 (GRCm39) |
|
probably benign |
Het |
Cadm1 |
C |
T |
9: 47,441,735 (GRCm39) |
A22V |
possibly damaging |
Het |
Cntrob |
C |
A |
11: 69,196,375 (GRCm39) |
D687Y |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,857,185 (GRCm39) |
|
probably benign |
Het |
Ddc |
T |
C |
11: 11,785,802 (GRCm39) |
D295G |
probably damaging |
Het |
Fut10 |
T |
A |
8: 31,726,285 (GRCm39) |
Y347N |
probably damaging |
Het |
Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Helz |
T |
C |
11: 107,494,989 (GRCm39) |
V321A |
probably benign |
Het |
Hnrnpul1 |
T |
C |
7: 25,421,709 (GRCm39) |
|
probably benign |
Het |
Hsdl2 |
T |
A |
4: 59,617,692 (GRCm39) |
I353K |
possibly damaging |
Het |
Igkv3-2 |
G |
A |
6: 70,675,825 (GRCm39) |
A45T |
probably benign |
Het |
Kcnh6 |
A |
G |
11: 105,909,762 (GRCm39) |
Y429C |
probably damaging |
Het |
Luzp1 |
T |
A |
4: 136,268,174 (GRCm39) |
N132K |
probably damaging |
Het |
Mlycd |
T |
A |
8: 120,137,144 (GRCm39) |
Y455N |
probably damaging |
Het |
Myl7 |
C |
T |
11: 5,847,354 (GRCm39) |
D115N |
probably damaging |
Het |
Or52s1 |
A |
T |
7: 102,861,687 (GRCm39) |
I196F |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,877,827 (GRCm39) |
T461A |
probably damaging |
Het |
Pi4kb |
C |
T |
3: 94,892,046 (GRCm39) |
S254L |
probably benign |
Het |
Pitpnc1 |
A |
G |
11: 107,107,535 (GRCm39) |
V257A |
probably benign |
Het |
Prpf40b |
A |
G |
15: 99,212,544 (GRCm39) |
D596G |
probably damaging |
Het |
Rngtt |
T |
C |
4: 33,330,865 (GRCm39) |
F156S |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,781,844 (GRCm39) |
|
probably benign |
Het |
Shisa6 |
T |
C |
11: 66,416,244 (GRCm39) |
T183A |
probably benign |
Het |
Skint3 |
T |
A |
4: 112,127,206 (GRCm39) |
V287E |
possibly damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Slc17a3 |
A |
T |
13: 24,040,715 (GRCm39) |
S392C |
probably damaging |
Het |
Snx14 |
T |
C |
9: 88,305,052 (GRCm39) |
I81V |
probably benign |
Het |
Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,797,234 (GRCm39) |
D99E |
probably benign |
Het |
Trim34b |
T |
C |
7: 103,984,935 (GRCm39) |
C318R |
probably benign |
Het |
Twsg1 |
A |
C |
17: 66,233,305 (GRCm39) |
V215G |
possibly damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Ubr1 |
A |
G |
2: 120,776,862 (GRCm39) |
V293A |
possibly damaging |
Het |
Unk |
G |
A |
11: 115,944,460 (GRCm39) |
G404S |
probably damaging |
Het |
Virma |
T |
C |
4: 11,498,828 (GRCm39) |
|
probably null |
Het |
Vps13b |
T |
C |
15: 35,876,939 (GRCm39) |
V2864A |
possibly damaging |
Het |
Wdfy4 |
T |
A |
14: 32,818,040 (GRCm39) |
R1492W |
probably damaging |
Het |
Zcchc3 |
G |
C |
2: 152,256,642 (GRCm39) |
P19R |
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 |
R0030:Ttc39a
|
UTSW |
4 |
109,280,170 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTCAGGACCTTTTGAACTG -3'
(R):5'- TGCAAGTTACTCAGGGAGC -3'
Sequencing Primer
(F):5'- CAGGACCTTTTGAACTGAGCTGC -3'
(R):5'- GATTCACCTCAGGGGACTCAC -3'
|
Posted On |
2015-07-21 |