Incidental Mutation 'R2473:Ttc39a'
| ID |
253211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc39a
|
| Ensembl Gene |
ENSMUSG00000028555 |
| Gene Name |
tetratricopeptide repeat domain 39A |
| Synonyms |
4922503N01Rik |
| MMRRC Submission |
040404-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2473 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
109263820-109301942 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109299436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 428
(I428F)
|
| 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: I426F
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
AA Change: I426F
| 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 damaging
Transcript: ENSMUST00000106618
AA Change: I428F
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
AA Change: I428F
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
280 |
313 |
7.69e1 |
SMART |
|
TPR
|
470 |
503 |
6.57e1 |
SMART |
|
TPR
|
511 |
544 |
1.42e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b4 |
T |
G |
2: 126,200,814 (GRCm39) |
K785Q |
possibly damaging |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,404 (GRCm39) |
I184F |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,363,962 (GRCm39) |
D611E |
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,276,464 (GRCm39) |
V13M |
possibly damaging |
Het |
| Mamdc4 |
C |
A |
2: 25,456,344 (GRCm39) |
G713V |
probably damaging |
Het |
| Marveld2 |
C |
T |
13: 100,733,829 (GRCm39) |
V269M |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,169,353 (GRCm39) |
M1508K |
probably benign |
Het |
| Mgp |
T |
C |
6: 136,850,162 (GRCm39) |
|
probably null |
Het |
| Mucl2 |
C |
G |
15: 103,927,628 (GRCm39) |
E110Q |
possibly damaging |
Het |
| Mxra8 |
T |
C |
4: 155,926,500 (GRCm39) |
F286S |
probably damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,401 (GRCm39) |
T244A |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,236 (GRCm39) |
S229P |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,146 (GRCm39) |
Y7H |
possibly damaging |
Het |
| Or5p70 |
C |
T |
7: 107,994,711 (GRCm39) |
A128V |
probably damaging |
Het |
| Pax3 |
C |
T |
1: 78,099,227 (GRCm39) |
|
probably null |
Het |
| Polm |
T |
C |
11: 5,779,881 (GRCm39) |
E339G |
possibly damaging |
Het |
| Sec14l4 |
T |
A |
11: 3,993,359 (GRCm39) |
V218E |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,038,785 (GRCm39) |
|
probably null |
Het |
| Six4 |
A |
G |
12: 73,150,949 (GRCm39) |
V532A |
probably benign |
Het |
| Slc35c1 |
T |
A |
2: 92,285,098 (GRCm39) |
D172V |
probably benign |
Het |
| Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCCCTCAATCCTACAGC -3'
(R):5'- TCTGCAAGTTACTCAGGGAGCC -3'
Sequencing Primer
(F):5'- CCTACAGCTTTATAGGCTAGAAGG -3'
(R):5'- CTGACACTGGTCTTGTAAAAGGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation