Incidental Mutation 'R4984:Ttc39b'
| ID |
385782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc39b
|
| Ensembl Gene |
ENSMUSG00000038172 |
| Gene Name |
tetratricopeptide repeat domain 39B |
| Synonyms |
1810054D07Rik, 9130422G05Rik |
| MMRRC Submission |
042578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R4984 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
83138537-83242488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83160446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 377
(I377K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048274]
[ENSMUST00000102823]
|
| AlphaFold |
Q8BYY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048274
AA Change: I377K
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: I377K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
75 |
478 |
2.2e-147 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102823
AA Change: I377K
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: I377K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra2a |
T |
C |
19: 54,035,070 (GRCm39) |
I142T |
probably damaging |
Het |
| Cd109 |
T |
C |
9: 78,541,959 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
T |
A |
19: 6,366,253 (GRCm39) |
I812N |
possibly damaging |
Het |
| Cftr |
A |
G |
6: 18,235,198 (GRCm39) |
E479G |
possibly damaging |
Het |
| Cimap3 |
T |
A |
3: 105,908,810 (GRCm39) |
|
probably benign |
Het |
| Cpb1 |
GTTT |
GTT |
3: 20,324,516 (GRCm39) |
|
probably null |
Het |
| Crocc |
T |
C |
4: 140,761,763 (GRCm39) |
E873G |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,528,002 (GRCm39) |
V3827I |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| E230001N04Rik |
T |
C |
17: 28,742,780 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr89 |
T |
A |
3: 96,812,512 (GRCm39) |
M10L |
probably benign |
Het |
| Kbtbd7 |
T |
C |
14: 79,664,602 (GRCm39) |
Y145H |
probably damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,184,995 (GRCm39) |
Y426N |
probably damaging |
Het |
| Mipep |
A |
G |
14: 61,025,631 (GRCm39) |
D129G |
possibly damaging |
Het |
| Muc15 |
C |
T |
2: 110,561,918 (GRCm39) |
P118L |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,815,576 (GRCm39) |
|
probably benign |
Het |
| Nubp1 |
T |
A |
16: 10,239,108 (GRCm39) |
D208E |
probably damaging |
Het |
| Or4a47 |
A |
T |
2: 89,666,157 (GRCm39) |
V44D |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,251,192 (GRCm39) |
Y35N |
probably damaging |
Het |
| Or4p4 |
A |
G |
2: 88,242,921 (GRCm39) |
L27P |
probably damaging |
Het |
| Or52h9 |
T |
G |
7: 104,202,228 (GRCm39) |
I34S |
probably benign |
Het |
| Or8g2 |
A |
G |
9: 39,821,906 (GRCm39) |
D269G |
probably benign |
Het |
| Pdcd5 |
A |
C |
7: 35,342,110 (GRCm39) |
V166G |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 109,876,998 (GRCm39) |
L173P |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,645,996 (GRCm39) |
Y195C |
probably damaging |
Het |
| Pou4f1 |
T |
C |
14: 104,703,619 (GRCm39) |
E271G |
unknown |
Het |
| Ppl |
T |
C |
16: 4,905,505 (GRCm39) |
I1597V |
probably benign |
Het |
| Pramel17 |
G |
C |
4: 101,692,796 (GRCm39) |
N401K |
possibly damaging |
Het |
| Sorl1 |
C |
A |
9: 41,902,638 (GRCm39) |
D1640Y |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,968,873 (GRCm39) |
L670P |
probably damaging |
Het |
| Tox3 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
8: 90,975,270 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,389,901 (GRCm39) |
D762G |
probably benign |
Het |
| Ubp1 |
T |
A |
9: 113,788,460 (GRCm39) |
I279K |
probably damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,389 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,784,783 (GRCm39) |
L588Q |
possibly 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 |
|
R0536:Ttc39b
|
UTSW |
4 |
83,145,435 (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 |
|
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'- TCCTAGCAACATCCTGCCTG -3'
(R):5'- GTATTGTCACACGTTAAGGAAGAG -3'
Sequencing Primer
(F):5'- TCCTCCAGCTTTAAACTGAGG -3'
(R):5'- GAACGTAATGGTATATTGAGTGGC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation