Incidental Mutation 'R2885:Ttc39d'
| ID |
261033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc39d
|
| Ensembl Gene |
ENSMUSG00000046196 |
| Gene Name |
tetratricopeptide repeat domain 39D |
| Synonyms |
4930560E09Rik |
| MMRRC Submission |
040473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R2885 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
80523343-80525365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80524144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 268
(S268G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053168]
[ENSMUST00000134652]
|
| AlphaFold |
Q0VF76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053168
AA Change: S268G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: S268G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
69 |
522 |
9.6e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134652
AA Change: S268G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: S268G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
69 |
522 |
7.2e-150 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,749,940 (GRCm39) |
S1453G |
probably damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,027,084 (GRCm39) |
F142S |
probably damaging |
Het |
| Cmip |
A |
G |
8: 118,111,704 (GRCm39) |
N145S |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,492,849 (GRCm39) |
D287N |
probably damaging |
Het |
| Dlx2 |
G |
A |
2: 71,375,808 (GRCm39) |
R172* |
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,951,162 (GRCm39) |
Q1145* |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,580,593 (GRCm39) |
I659N |
probably damaging |
Het |
| Dync2h1 |
G |
C |
9: 7,102,329 (GRCm39) |
F2690L |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,584,114 (GRCm39) |
V289A |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,925,806 (GRCm39) |
R219C |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,309 (GRCm39) |
N269S |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,469 (GRCm39) |
Y148N |
probably damaging |
Het |
| Mzt2 |
G |
T |
16: 15,680,780 (GRCm39) |
A3E |
unknown |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,977,574 (GRCm39) |
V1959E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Phf12 |
T |
C |
11: 77,914,595 (GRCm39) |
I130T |
possibly damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,611,735 (GRCm39) |
V338A |
probably benign |
Het |
| Prl3b1 |
A |
T |
13: 27,433,505 (GRCm39) |
N220I |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,415,456 (GRCm39) |
Q254R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,774,223 (GRCm39) |
R2404S |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,247,506 (GRCm39) |
I463T |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,914,667 (GRCm39) |
F1483S |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,816,506 (GRCm39) |
P1515S |
probably benign |
Het |
| Sit1 |
C |
T |
4: 43,483,314 (GRCm39) |
R50H |
possibly damaging |
Het |
| Smc6 |
T |
C |
12: 11,326,294 (GRCm39) |
V97A |
probably damaging |
Het |
| Ube2frt |
A |
G |
12: 36,140,574 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r60 |
T |
A |
7: 41,790,403 (GRCm39) |
D463E |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,628 (GRCm39) |
Y82F |
probably benign |
Het |
| Zfp709 |
A |
T |
8: 72,643,549 (GRCm39) |
D325V |
probably benign |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
probably damaging |
Het |
|
| Other mutations in Ttc39d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Ttc39d
|
APN |
17 |
80,523,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01065:Ttc39d
|
APN |
17 |
80,523,703 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01834:Ttc39d
|
APN |
17 |
80,523,475 (GRCm39) |
missense |
probably benign |
|
|
IGL02541:Ttc39d
|
APN |
17 |
80,523,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4687001:Ttc39d
|
UTSW |
17 |
80,524,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Ttc39d
|
UTSW |
17 |
80,523,379 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0042:Ttc39d
|
UTSW |
17 |
80,523,379 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0124:Ttc39d
|
UTSW |
17 |
80,524,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Ttc39d
|
UTSW |
17 |
80,523,886 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0801:Ttc39d
|
UTSW |
17 |
80,523,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Ttc39d
|
UTSW |
17 |
80,523,913 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2071:Ttc39d
|
UTSW |
17 |
80,524,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Ttc39d
|
UTSW |
17 |
80,524,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Ttc39d
|
UTSW |
17 |
80,524,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Ttc39d
|
UTSW |
17 |
80,523,799 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2939:Ttc39d
|
UTSW |
17 |
80,524,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2940:Ttc39d
|
UTSW |
17 |
80,524,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Ttc39d
|
UTSW |
17 |
80,524,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Ttc39d
|
UTSW |
17 |
80,525,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4872:Ttc39d
|
UTSW |
17 |
80,524,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4951:Ttc39d
|
UTSW |
17 |
80,523,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6260:Ttc39d
|
UTSW |
17 |
80,524,076 (GRCm39) |
nonsense |
probably null |
|
|
R7018:Ttc39d
|
UTSW |
17 |
80,523,610 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7042:Ttc39d
|
UTSW |
17 |
80,523,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7468:Ttc39d
|
UTSW |
17 |
80,523,579 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7761:Ttc39d
|
UTSW |
17 |
80,524,741 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7825:Ttc39d
|
UTSW |
17 |
80,523,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7955:Ttc39d
|
UTSW |
17 |
80,523,352 (GRCm39) |
missense |
probably benign |
|
|
R8192:Ttc39d
|
UTSW |
17 |
80,524,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8400:Ttc39d
|
UTSW |
17 |
80,523,434 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8682:Ttc39d
|
UTSW |
17 |
80,524,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9019:Ttc39d
|
UTSW |
17 |
80,523,349 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9453:Ttc39d
|
UTSW |
17 |
80,524,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Ttc39d
|
UTSW |
17 |
80,524,139 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAACAGGTCTTAGAACTTATGC -3'
(R):5'- GCGCTTTCAAAATTACCGTTTAGC -3'
Sequencing Primer
(F):5'- GGTCTTAGAACTTATGCCTGAGAACC -3'
(R):5'- ACCGTTTAGCATGTTAAAACGTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation