Incidental Mutation 'R0536:Ttc39b'
| ID |
49453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc39b
|
| Ensembl Gene |
ENSMUSG00000038172 |
| Gene Name |
tetratricopeptide repeat domain 39B |
| Synonyms |
1810054D07Rik, 9130422G05Rik |
| MMRRC Submission |
038728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R0536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
83138537-83242488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83145435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 597
(E597G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102823]
|
| AlphaFold |
Q8BYY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102823
AA Change: E597G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: E597G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
75 |
533 |
3.6e-167 |
PFAM |
|
Pfam:TPR_8
|
329 |
360 |
4.5e-3 |
PFAM |
|
Pfam:TPR_6
|
563 |
594 |
6.9e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143362
|
| Meta Mutation Damage Score |
0.6048 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,171,342 (GRCm39) |
|
probably benign |
Het |
| Agrn |
A |
T |
4: 156,264,010 (GRCm39) |
D84E |
probably benign |
Het |
| Akap11 |
A |
G |
14: 78,751,464 (GRCm39) |
S308P |
probably damaging |
Het |
| Atp6v1c2 |
A |
T |
12: 17,357,509 (GRCm39) |
|
probably null |
Het |
| AW209491 |
A |
G |
13: 14,811,558 (GRCm39) |
Y137C |
probably damaging |
Het |
| Chst9 |
G |
A |
18: 15,628,387 (GRCm39) |
|
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,223,826 (GRCm39) |
T122A |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Ikzf4 |
T |
A |
10: 128,477,118 (GRCm39) |
E64D |
probably benign |
Het |
| Kif21a |
C |
A |
15: 90,843,886 (GRCm39) |
|
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,658,951 (GRCm39) |
R2036C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,622,839 (GRCm39) |
V311D |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,820,757 (GRCm39) |
V1903A |
possibly damaging |
Het |
| Naa30 |
C |
T |
14: 49,410,534 (GRCm39) |
A154V |
possibly damaging |
Het |
| Or2ag1 |
T |
A |
7: 106,313,528 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or52z12 |
T |
C |
7: 103,233,468 (GRCm39) |
S80P |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,625 (GRCm39) |
Q139K |
probably benign |
Het |
| Pgm3 |
C |
T |
9: 86,449,589 (GRCm39) |
V144M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,927 (GRCm39) |
S211C |
probably damaging |
Het |
| Setx |
T |
C |
2: 29,048,260 (GRCm39) |
Y1954H |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,791,137 (GRCm39) |
Q1162* |
probably null |
Het |
| Sptbn2 |
T |
A |
19: 4,776,718 (GRCm39) |
D255E |
probably damaging |
Het |
| Vldlr |
G |
A |
19: 27,217,364 (GRCm39) |
A436T |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,064,690 (GRCm39) |
G574D |
probably damaging |
Het |
| Zzz3 |
T |
G |
3: 152,154,465 (GRCm39) |
I572S |
probably damaging |
Het |
|
| Other mutations in Ttc39b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Ttc39b
|
APN |
4 |
83,162,276 (GRCm39) |
splice site |
probably benign |
|
|
IGL02118:Ttc39b
|
APN |
4 |
83,216,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02860:Ttc39b
|
APN |
4 |
83,181,983 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03008:Ttc39b
|
APN |
4 |
83,165,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03136:Ttc39b
|
APN |
4 |
83,155,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03310:Ttc39b
|
APN |
4 |
83,165,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03409:Ttc39b
|
APN |
4 |
83,179,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0654:Ttc39b
|
UTSW |
4 |
83,159,938 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1690:Ttc39b
|
UTSW |
4 |
83,145,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Ttc39b
|
UTSW |
4 |
83,155,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Ttc39b
|
UTSW |
4 |
83,150,957 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2221:Ttc39b
|
UTSW |
4 |
83,150,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2223:Ttc39b
|
UTSW |
4 |
83,150,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4182:Ttc39b
|
UTSW |
4 |
83,155,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4746:Ttc39b
|
UTSW |
4 |
83,162,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4984:Ttc39b
|
UTSW |
4 |
83,160,446 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5328:Ttc39b
|
UTSW |
4 |
83,180,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Ttc39b
|
UTSW |
4 |
83,180,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Ttc39b
|
UTSW |
4 |
83,162,190 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5646:Ttc39b
|
UTSW |
4 |
83,162,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6353:Ttc39b
|
UTSW |
4 |
83,148,730 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6681:Ttc39b
|
UTSW |
4 |
83,158,285 (GRCm39) |
intron |
probably benign |
|
|
R6873:Ttc39b
|
UTSW |
4 |
83,164,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Ttc39b
|
UTSW |
4 |
83,180,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7414:Ttc39b
|
UTSW |
4 |
83,160,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7536:Ttc39b
|
UTSW |
4 |
83,158,215 (GRCm39) |
nonsense |
probably null |
|
|
R8095:Ttc39b
|
UTSW |
4 |
83,164,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8728:Ttc39b
|
UTSW |
4 |
83,171,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9123:Ttc39b
|
UTSW |
4 |
83,189,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9194:Ttc39b
|
UTSW |
4 |
83,181,977 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9303:Ttc39b
|
UTSW |
4 |
83,151,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9305:Ttc39b
|
UTSW |
4 |
83,151,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Ttc39b
|
UTSW |
4 |
83,189,376 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9473:Ttc39b
|
UTSW |
4 |
83,181,977 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
X0064:Ttc39b
|
UTSW |
4 |
83,179,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGATACAAGTCCCTTCTGCC -3'
(R):5'- AGAAAGACGCTGCTCTTTACTCTGC -3'
Sequencing Primer
(F):5'- AACTAGGCTTTATTGTACCTGCCAG -3'
(R):5'- TCTTTACTCTGCTCCAGTAGAAC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation