Incidental Mutation 'R6873:Ttc39b'
| ID |
536247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc39b
|
| Ensembl Gene |
ENSMUSG00000038172 |
| Gene Name |
tetratricopeptide repeat domain 39B |
| Synonyms |
1810054D07Rik, 9130422G05Rik |
| MMRRC Submission |
044970-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6873 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
83138537-83242488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 83164513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 266
(N266K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048274]
[ENSMUST00000102823]
|
| AlphaFold |
Q8BYY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048274
AA Change: N266K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: N266K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
75 |
478 |
2.2e-147 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102823
AA Change: N266K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: N266K
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss1 |
A |
G |
12: 112,599,138 (GRCm39) |
D123G |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,423,856 (GRCm39) |
D294G |
possibly damaging |
Het |
| Apob |
G |
T |
12: 8,065,995 (GRCm39) |
M4288I |
probably benign |
Het |
| Arnt |
T |
G |
3: 95,381,886 (GRCm39) |
F160V |
probably damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,863,540 (GRCm39) |
R42* |
probably null |
Het |
| Bhlha15 |
A |
G |
5: 144,128,203 (GRCm39) |
D105G |
probably benign |
Het |
| C6 |
A |
G |
15: 4,820,461 (GRCm39) |
T491A |
probably benign |
Het |
| Calhm5 |
G |
C |
10: 33,968,448 (GRCm39) |
R202G |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,723,153 (GRCm39) |
E647G |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,283,993 (GRCm39) |
D1579G |
unknown |
Het |
| Dctn2 |
T |
G |
10: 127,112,105 (GRCm39) |
|
probably null |
Het |
| Eqtn |
A |
G |
4: 94,815,258 (GRCm39) |
V80A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,802,803 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,041,787 (GRCm39) |
D814G |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,672,045 (GRCm39) |
D445G |
probably damaging |
Het |
| Gm6309 |
T |
C |
5: 146,104,998 (GRCm39) |
D305G |
probably damaging |
Het |
| Grap2 |
G |
A |
15: 80,527,874 (GRCm39) |
V107I |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,235,865 (GRCm39) |
A1439T |
probably benign |
Het |
| Krt5 |
G |
A |
15: 101,621,312 (GRCm39) |
|
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,699,642 (GRCm39) |
I152M |
possibly damaging |
Het |
| Mast3 |
A |
T |
8: 71,239,236 (GRCm39) |
C447* |
probably null |
Het |
| Mef2b |
A |
G |
8: 70,618,957 (GRCm39) |
I180V |
probably benign |
Het |
| Mon1b |
T |
C |
8: 114,368,697 (GRCm39) |
Y533H |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,788,843 (GRCm39) |
H454L |
possibly damaging |
Het |
| Nhlrc4 |
G |
A |
17: 26,162,496 (GRCm39) |
Q84* |
probably null |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,503,433 (GRCm39) |
I513T |
probably benign |
Het |
| Or1j12 |
A |
T |
2: 36,343,508 (GRCm39) |
I304F |
probably benign |
Het |
| Or2n1 |
A |
T |
17: 38,486,259 (GRCm39) |
M95L |
probably benign |
Het |
| Or4c108 |
T |
C |
2: 88,803,768 (GRCm39) |
T156A |
probably benign |
Het |
| Panx1 |
A |
T |
9: 14,921,513 (GRCm39) |
Y121N |
probably damaging |
Het |
| Pfkfb4 |
A |
C |
9: 108,839,403 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
A |
G |
18: 78,902,774 (GRCm39) |
S298P |
probably benign |
Het |
| Sh3bgr |
A |
C |
16: 96,007,691 (GRCm39) |
K19Q |
probably damaging |
Het |
| Slc35c2 |
T |
C |
2: 165,124,729 (GRCm39) |
D82G |
possibly damaging |
Het |
| Spata13 |
T |
A |
14: 60,929,406 (GRCm39) |
D321E |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,697,230 (GRCm39) |
|
probably null |
Het |
| Sulf2 |
T |
A |
2: 165,931,195 (GRCm39) |
I271F |
probably damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,359,311 (GRCm39) |
I96L |
probably benign |
Het |
| Sv2b |
A |
G |
7: 74,855,954 (GRCm39) |
F112S |
probably damaging |
Het |
| Sycp1 |
G |
A |
3: 102,748,296 (GRCm39) |
T832I |
probably benign |
Het |
| Tm9sf2 |
A |
T |
14: 122,382,525 (GRCm39) |
E179V |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,508,455 (GRCm39) |
I66T |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,335,549 (GRCm39) |
W220R |
probably damaging |
Het |
| Uri1 |
A |
T |
7: 37,664,764 (GRCm39) |
D309E |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,527,273 (GRCm39) |
R1057W |
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 |
|
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 |
|
|
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'- ACACTTGCGCCTCATTTGGG -3'
(R):5'- TAGACTTGATTTGGCTTCCAGG -3'
Sequencing Primer
(F):5'- CGCCTCATTTGGGGAAGTATG -3'
(R):5'- TTGAACAGGTTAGGGTTAGCCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation