Incidental Mutation 'R8095:Ttc39b'
ID |
630138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc39b
|
Ensembl Gene |
ENSMUSG00000038172 |
Gene Name |
tetratricopeptide repeat domain 39B |
Synonyms |
1810054D07Rik, 9130422G05Rik |
MMRRC Submission |
067527-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R8095 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
83138537-83242488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 83164557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 252
(A252T)
|
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: A252T
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000040590 Gene: ENSMUSG00000038172 AA Change: A252T
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
75 |
478 |
2.2e-147 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102823
AA Change: A252T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000099887 Gene: ENSMUSG00000038172 AA Change: A252T
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.6%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,536,196 (GRCm39) |
I490M |
possibly damaging |
Het |
Abcc9 |
T |
C |
6: 142,590,048 (GRCm39) |
I817V |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,888,565 (GRCm39) |
L945P |
probably damaging |
Het |
Coa8 |
C |
A |
12: 111,689,218 (GRCm39) |
A100D |
probably damaging |
Het |
Crem |
T |
C |
18: 3,295,106 (GRCm39) |
T108A |
probably benign |
Het |
Cttnbp2 |
T |
A |
6: 18,435,432 (GRCm39) |
K142M |
probably damaging |
Het |
Cyp51 |
C |
T |
5: 4,136,490 (GRCm39) |
E435K |
probably benign |
Het |
Dnah14 |
G |
T |
1: 181,633,597 (GRCm39) |
E11* |
probably null |
Het |
Dpy19l1 |
T |
C |
9: 24,396,160 (GRCm39) |
|
probably null |
Het |
Dym |
A |
G |
18: 75,247,872 (GRCm39) |
T259A |
possibly damaging |
Het |
E030018B13Rik |
T |
G |
7: 63,569,049 (GRCm39) |
H32Q |
unknown |
Het |
Ehmt2 |
T |
G |
17: 35,126,745 (GRCm39) |
H809Q |
probably damaging |
Het |
Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
Fam98a |
C |
A |
17: 75,845,766 (GRCm39) |
D327Y |
probably damaging |
Het |
Foxf1 |
C |
T |
8: 121,813,551 (GRCm39) |
T357I |
probably benign |
Het |
Foxh1 |
T |
A |
15: 76,553,208 (GRCm39) |
R169* |
probably null |
Het |
Hydin |
T |
C |
8: 111,295,991 (GRCm39) |
F3568S |
probably damaging |
Het |
Il22 |
T |
C |
10: 118,041,028 (GRCm39) |
S45P |
possibly damaging |
Het |
Isyna1 |
C |
A |
8: 71,049,035 (GRCm39) |
Y371* |
probably null |
Het |
Lingo3 |
T |
C |
10: 80,671,255 (GRCm39) |
H225R |
probably benign |
Het |
Lmo7 |
T |
A |
14: 102,124,855 (GRCm39) |
V560E |
possibly damaging |
Het |
Mab21l2 |
A |
G |
3: 86,454,769 (GRCm39) |
V77A |
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,848,131 (GRCm39) |
K595R |
probably benign |
Het |
Mfsd2a |
A |
T |
4: 122,845,064 (GRCm39) |
C216S |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,496,126 (GRCm39) |
Y6688* |
probably null |
Het |
Or12j5 |
T |
C |
7: 140,084,192 (GRCm39) |
Y60C |
probably damaging |
Het |
Otud6b |
T |
C |
4: 14,825,614 (GRCm39) |
D72G |
probably damaging |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,924 (GRCm39) |
I211V |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,498,388 (GRCm39) |
|
probably null |
Het |
Sardh |
T |
C |
2: 27,132,730 (GRCm39) |
Y166C |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,132,809 (GRCm39) |
K171N |
possibly damaging |
Het |
Scyl2 |
G |
T |
10: 89,476,965 (GRCm39) |
T720K |
probably damaging |
Het |
Slc9a8 |
T |
A |
2: 167,310,891 (GRCm39) |
V384D |
probably damaging |
Het |
Slco1a8 |
T |
A |
6: 141,933,415 (GRCm39) |
I457F |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,772,285 (GRCm39) |
Y1490C |
unknown |
Het |
Snx16 |
A |
T |
3: 10,503,244 (GRCm39) |
M1K |
probably null |
Het |
Sqle |
A |
G |
15: 59,193,276 (GRCm39) |
S218G |
probably benign |
Het |
Strip1 |
A |
G |
3: 107,525,455 (GRCm39) |
I527T |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tnfsf13 |
A |
G |
11: 69,575,983 (GRCm39) |
C35R |
probably damaging |
Het |
Trf |
T |
C |
9: 103,087,735 (GRCm39) |
Y673C |
probably damaging |
Het |
Tubgcp6 |
A |
T |
15: 89,006,977 (GRCm39) |
L15H |
probably benign |
Het |
Uspl1 |
C |
T |
5: 149,150,992 (GRCm39) |
Q731* |
probably null |
Het |
Vmn1r193 |
T |
C |
13: 22,403,231 (GRCm39) |
R254G |
possibly damaging |
Het |
Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp644 |
A |
C |
5: 106,766,280 (GRCm39) |
V1234G |
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 |
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 |
|
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'- AGGAACACTTGCGCCTCATTTG -3'
(R):5'- AGACTTGATTTGGCTTCCAGG -3'
Sequencing Primer
(F):5'- GCGCCTCATTTGGGGAAG -3'
(R):5'- GCTTCCAGGGCTTTTGAACAG -3'
|
Posted On |
2020-06-30 |