Incidental Mutation 'R4344:Ttc39c'
ID |
324277 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc39c
|
Ensembl Gene |
ENSMUSG00000024424 |
Gene Name |
tetratricopeptide repeat domain 39C |
Synonyms |
1700008N02Rik, 2810439F02Rik |
MMRRC Submission |
041101-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4344 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
12732953-12871920 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 12861667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025294]
[ENSMUST00000169401]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000025294
|
SMART Domains |
Protein: ENSMUSP00000025294 Gene: ENSMUSG00000024424
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
31 |
495 |
7.3e-140 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000169401
|
SMART Domains |
Protein: ENSMUSP00000133127 Gene: ENSMUSG00000024424
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
1 |
437 |
1.6e-134 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
G |
T |
1: 25,865,829 (GRCm39) |
R5S |
possibly damaging |
Het |
Ccdc168 |
G |
A |
1: 44,100,151 (GRCm39) |
L316F |
possibly damaging |
Het |
Ccdc187 |
T |
A |
2: 26,170,681 (GRCm39) |
K599I |
probably damaging |
Het |
Ccn5 |
G |
A |
2: 163,670,906 (GRCm39) |
V138M |
probably damaging |
Het |
Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
Ces2a |
T |
G |
8: 105,463,766 (GRCm39) |
D159E |
probably damaging |
Het |
Dcc |
G |
A |
18: 71,507,561 (GRCm39) |
A917V |
probably damaging |
Het |
Dennd6b |
G |
A |
15: 89,072,866 (GRCm39) |
A196V |
probably benign |
Het |
Dlgap3 |
T |
C |
4: 127,108,141 (GRCm39) |
S475P |
possibly damaging |
Het |
Doc2a |
C |
T |
7: 126,450,321 (GRCm39) |
P156S |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,445,722 (GRCm39) |
|
probably null |
Het |
Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Klk1b8 |
C |
A |
7: 43,595,186 (GRCm39) |
|
probably benign |
Het |
Lmcd1 |
T |
A |
6: 112,264,968 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,873,051 (GRCm39) |
I2750K |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,590,666 (GRCm39) |
N2958S |
possibly damaging |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Ppp1r16b |
G |
A |
2: 158,591,106 (GRCm39) |
V163I |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,585,886 (GRCm39) |
W2475R |
probably damaging |
Het |
Rad54l |
C |
T |
4: 115,954,551 (GRCm39) |
C684Y |
probably damaging |
Het |
Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
Rasef |
T |
A |
4: 73,663,326 (GRCm39) |
H167L |
probably damaging |
Het |
Sh3bp2 |
T |
C |
5: 34,712,886 (GRCm39) |
F165L |
possibly damaging |
Het |
Slc38a9 |
T |
C |
13: 112,865,749 (GRCm39) |
I482T |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
Vmn2r22 |
C |
T |
6: 123,614,756 (GRCm39) |
G278D |
probably damaging |
Het |
Yme1l1 |
G |
A |
2: 23,063,073 (GRCm39) |
A215T |
probably benign |
Het |
Zmynd15 |
C |
T |
11: 70,351,894 (GRCm39) |
R38* |
probably null |
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 |
|
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 |
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'- AGGTGTGGTTCTCATCAGC -3'
(R):5'- AAATCAACCCTGCTGTAGCC -3'
Sequencing Primer
(F):5'- TTAAACTAAGGGGCTCGCCTACG -3'
(R):5'- TTGAACAGCTTCTGGACT -3'
|
Posted On |
2015-06-24 |