Incidental Mutation 'R4484:Ttc39c'
| ID |
331559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc39c
|
| Ensembl Gene |
ENSMUSG00000024424 |
| Gene Name |
tetratricopeptide repeat domain 39C |
| Synonyms |
1700008N02Rik, 2810439F02Rik |
| MMRRC Submission |
041740-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4484 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12732953-12871920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12863126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 397
(K397E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025294]
[ENSMUST00000169401]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025294
AA Change: K455E
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025294
Gene: ENSMUSG00000024424
AA Change: K455E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
31 |
495 |
7.3e-140 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143388
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169401
AA Change: K397E
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133127
Gene: ENSMUSG00000024424
AA Change: K397E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
1 |
437 |
1.6e-134 |
PFAM |
|
| Meta Mutation Damage Score |
0.7282 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
C |
1: 58,301,730 (GRCm39) |
C1101R |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,357,016 (GRCm39) |
I588T |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd164l2 |
T |
A |
4: 132,950,986 (GRCm39) |
V147E |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,723,262 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,836,482 (GRCm39) |
T894A |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,239,696 (GRCm39) |
D552G |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,455,733 (GRCm39) |
N593I |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,083 (GRCm39) |
E142G |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
| Gm44501 |
T |
A |
17: 40,887,507 (GRCm39) |
F8L |
unknown |
Het |
| Gpr179 |
T |
C |
11: 97,226,537 (GRCm39) |
S1873G |
probably benign |
Het |
| Gprin2 |
C |
A |
14: 33,916,754 (GRCm39) |
A339S |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,649,038 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,208 (GRCm39) |
R91* |
probably null |
Het |
| Igtp |
G |
A |
11: 58,097,824 (GRCm39) |
V332I |
possibly damaging |
Het |
| Itfg1 |
G |
A |
8: 86,452,878 (GRCm39) |
P497S |
probably damaging |
Het |
| Junb |
T |
C |
8: 85,704,517 (GRCm39) |
N181S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,614,145 (GRCm39) |
Y1305H |
probably benign |
Het |
| Lrrcc1 |
A |
T |
3: 14,616,503 (GRCm39) |
N44I |
probably damaging |
Het |
| Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
| Mkks |
T |
C |
2: 136,722,494 (GRCm39) |
E221G |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,970,379 (GRCm39) |
V374A |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,422,187 (GRCm39) |
C4441F |
possibly damaging |
Het |
| Nim1k |
G |
A |
13: 120,173,710 (GRCm39) |
Q395* |
probably null |
Het |
| Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
| Ntng1 |
C |
A |
3: 110,051,124 (GRCm39) |
|
probably benign |
Het |
| Padi1 |
G |
T |
4: 140,544,581 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
T |
C |
1: 167,452,596 (GRCm39) |
S133P |
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,339,192 (GRCm39) |
I110T |
probably benign |
Het |
| Strap |
T |
C |
6: 137,726,334 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,631,831 (GRCm39) |
D890G |
probably benign |
Het |
| Tgtp2 |
A |
T |
11: 48,950,179 (GRCm39) |
M131K |
probably damaging |
Het |
| Tppp2 |
T |
C |
14: 52,156,868 (GRCm39) |
F82L |
probably damaging |
Het |
| Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
| Usp36 |
T |
A |
11: 118,176,621 (GRCm39) |
R66W |
probably damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,980,174 (GRCm39) |
I279V |
probably benign |
Het |
| Vmn2r61 |
G |
A |
7: 41,950,120 (GRCm39) |
D847N |
probably benign |
Het |
| Zfp622 |
G |
A |
15: 25,987,137 (GRCm39) |
|
probably null |
Het |
| Zfp963 |
T |
C |
8: 70,197,135 (GRCm39) |
I36V |
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,107,351 (GRCm39) |
Y428H |
possibly damaging |
Het |
|
| Other mutations in Ttc39c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00976:Ttc39c
|
APN |
18 |
12,817,952 (GRCm39) |
splice site |
probably benign |
|
|
IGL02323:Ttc39c
|
APN |
18 |
12,869,800 (GRCm39) |
missense |
probably null |
0.79 |
|
R1628:Ttc39c
|
UTSW |
18 |
12,867,936 (GRCm39) |
splice site |
probably benign |
|
|
R1771:Ttc39c
|
UTSW |
18 |
12,817,881 (GRCm39) |
splice site |
probably null |
|
|
R2002:Ttc39c
|
UTSW |
18 |
12,830,935 (GRCm39) |
splice site |
probably null |
|
|
R4162:Ttc39c
|
UTSW |
18 |
12,857,994 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4344:Ttc39c
|
UTSW |
18 |
12,861,667 (GRCm39) |
splice site |
probably null |
|
|
R4752:Ttc39c
|
UTSW |
18 |
12,861,782 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4872:Ttc39c
|
UTSW |
18 |
12,820,173 (GRCm39) |
intron |
probably benign |
|
|
R4912:Ttc39c
|
UTSW |
18 |
12,867,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4946:Ttc39c
|
UTSW |
18 |
12,857,999 (GRCm39) |
nonsense |
probably null |
|
|
R5036:Ttc39c
|
UTSW |
18 |
12,820,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5439:Ttc39c
|
UTSW |
18 |
12,828,428 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5726:Ttc39c
|
UTSW |
18 |
12,830,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7213:Ttc39c
|
UTSW |
18 |
12,820,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7400:Ttc39c
|
UTSW |
18 |
12,776,856 (GRCm39) |
intron |
probably benign |
|
|
R7413:Ttc39c
|
UTSW |
18 |
12,861,746 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7567:Ttc39c
|
UTSW |
18 |
12,822,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7979:Ttc39c
|
UTSW |
18 |
12,866,022 (GRCm39) |
missense |
probably benign |
|
|
R8769:Ttc39c
|
UTSW |
18 |
12,828,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Ttc39c
|
UTSW |
18 |
12,820,003 (GRCm39) |
splice site |
probably benign |
|
|
R8827:Ttc39c
|
UTSW |
18 |
12,828,436 (GRCm39) |
missense |
probably benign |
|
|
R8855:Ttc39c
|
UTSW |
18 |
12,831,003 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8866:Ttc39c
|
UTSW |
18 |
12,831,003 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8996:Ttc39c
|
UTSW |
18 |
12,820,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9349:Ttc39c
|
UTSW |
18 |
12,822,932 (GRCm39) |
nonsense |
probably null |
|
|
R9356:Ttc39c
|
UTSW |
18 |
12,853,102 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9797:Ttc39c
|
UTSW |
18 |
12,828,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ttc39c
|
UTSW |
18 |
12,820,020 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACCTTGCACTGTGACTTG -3'
(R):5'- AAATGGTGCCAGGTCTAGCAAG -3'
Sequencing Primer
(F):5'- TGACTTGTCCCCAAAGTGCAG -3'
(R):5'- GTCTCGAAGCCTATGCCAATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation