Incidental Mutation 'R9349:Ttc39c'
| ID |
707982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc39c
|
| Ensembl Gene |
ENSMUSG00000024424 |
| Gene Name |
tetratricopeptide repeat domain 39C |
| Synonyms |
1700008N02Rik, 2810439F02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R9349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
12732953-12871920 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 12822932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 147
(Q147*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025294]
[ENSMUST00000169401]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025294
AA Change: Q147*
|
| SMART Domains |
Protein: ENSMUSP00000025294
Gene: ENSMUSG00000024424
AA Change: Q147*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
31 |
495 |
7.3e-140 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169401
AA Change: Q89*
|
| SMART Domains |
Protein: ENSMUSP00000133127
Gene: ENSMUSG00000024424
AA Change: Q89*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
1 |
437 |
1.6e-134 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,665 (GRCm39) |
Q40R |
unknown |
Het |
| A730015C16Rik |
C |
T |
4: 108,705,053 (GRCm39) |
V89I |
unknown |
Het |
| Adam19 |
G |
T |
11: 46,022,570 (GRCm39) |
E508* |
probably null |
Het |
| Arhgef33 |
C |
T |
17: 80,644,736 (GRCm39) |
Q22* |
probably null |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Astn2 |
T |
A |
4: 66,184,492 (GRCm39) |
T202S |
unknown |
Het |
| Bpifb5 |
T |
A |
2: 154,067,005 (GRCm39) |
L86Q |
possibly damaging |
Het |
| Brpf3 |
G |
A |
17: 29,040,276 (GRCm39) |
S899N |
probably benign |
Het |
| Ccl20 |
T |
C |
1: 83,095,586 (GRCm39) |
F49S |
|
Het |
| Ctse |
A |
G |
1: 131,592,111 (GRCm39) |
T146A |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,671,444 (GRCm39) |
S292P |
possibly damaging |
Het |
| Fut7 |
C |
T |
2: 25,314,993 (GRCm39) |
P84S |
possibly damaging |
Het |
| Gm9736 |
A |
C |
10: 77,586,393 (GRCm39) |
S266A |
unknown |
Het |
| Gsdma |
T |
A |
11: 98,566,771 (GRCm39) |
L366Q |
probably benign |
Het |
| Ifna15 |
T |
A |
4: 88,476,283 (GRCm39) |
D67V |
probably benign |
Het |
| Igkv2-112 |
G |
A |
6: 68,197,678 (GRCm39) |
V117I |
probably benign |
Het |
| Kcnh2 |
C |
T |
5: 24,538,003 (GRCm39) |
G120E |
probably damaging |
Het |
| Kcnip1 |
T |
G |
11: 33,601,548 (GRCm39) |
Y29S |
probably benign |
Het |
| Lrrc37a |
T |
G |
11: 103,388,454 (GRCm39) |
M2324L |
unknown |
Het |
| Mettl5 |
T |
A |
2: 69,702,113 (GRCm39) |
D185V |
possibly damaging |
Het |
| Mmp1b |
T |
A |
9: 7,369,271 (GRCm39) |
M359L |
probably benign |
Het |
| Ndufa5 |
G |
A |
6: 24,522,749 (GRCm39) |
T31I |
probably benign |
Het |
| Ngly1 |
T |
A |
14: 16,281,801 (GRCm38) |
C352* |
probably null |
Het |
| Or14c45 |
A |
G |
7: 86,176,373 (GRCm39) |
H136R |
probably benign |
Het |
| Or51a39 |
A |
T |
7: 102,362,875 (GRCm39) |
C248* |
probably null |
Het |
| Pcdhac1 |
C |
T |
18: 37,224,021 (GRCm39) |
A278V |
possibly damaging |
Het |
| Ppp2r3c |
T |
A |
12: 55,345,268 (GRCm39) |
K73N |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,884,460 (GRCm39) |
V975A |
probably damaging |
Het |
| Rps27rt |
C |
T |
9: 114,811,673 (GRCm39) |
V35M |
probably benign |
Het |
| Slc22a8 |
A |
G |
19: 8,571,469 (GRCm39) |
N67D |
probably benign |
Het |
| Slc39a6 |
C |
A |
18: 24,718,493 (GRCm39) |
M521I |
probably benign |
Het |
| Snx31 |
C |
T |
15: 36,555,430 (GRCm39) |
S39N |
probably damaging |
Het |
| Speer1b |
C |
T |
5: 11,823,221 (GRCm39) |
T130I |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,096,795 (GRCm39) |
|
probably null |
Het |
| Thg1l |
G |
A |
11: 45,846,273 (GRCm39) |
A7V |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,407,194 (GRCm39) |
N352D |
unknown |
Het |
| Uhrf1 |
T |
C |
17: 56,617,737 (GRCm39) |
V153A |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,875,996 (GRCm39) |
S143P |
|
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 |
|
|
R4484:Ttc39c
|
UTSW |
18 |
12,863,126 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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'- AAGTCATTCCGTCCTGGCAG -3'
(R):5'- GAAATGACTCTGCTGCACAC -3'
Sequencing Primer
(F):5'- CAGAGCCGCCTGACCTG -3'
(R):5'- TGACTCTGCTGCACACACATTAAAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation