Incidental Mutation 'IGL02860:Ttc39b'
| ID |
362111 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc39b
|
| Ensembl Gene |
ENSMUSG00000038172 |
| Gene Name |
tetratricopeptide repeat domain 39B |
| Synonyms |
1810054D07Rik, 9130422G05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
IGL02860
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
83138537-83242488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83181983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 49
(N49D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030205]
[ENSMUST00000048274]
[ENSMUST00000102823]
[ENSMUST00000148811]
[ENSMUST00000150522]
|
| AlphaFold |
Q8BYY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030205
AA Change: N79D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000030205
Gene: ENSMUSG00000038172
AA Change: N79D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
75 |
173 |
1.9e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048274
AA Change: N79D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: N79D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
75 |
478 |
2.2e-147 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102823
AA Change: N79D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: N79D
| 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: ENSMUST00000146519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148811
AA Change: N49D
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124490
Gene: ENSMUSG00000038172
AA Change: N49D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
45 |
143 |
9.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150522
AA Change: N49D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124955
Gene: ENSMUSG00000038172
AA Change: N49D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
45 |
179 |
1.6e-50 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
T |
9: 90,073,915 (GRCm39) |
M832L |
probably benign |
Het |
| Cars1 |
A |
T |
7: 143,140,158 (GRCm39) |
D99E |
probably damaging |
Het |
| Ccdc112 |
A |
G |
18: 46,420,509 (GRCm39) |
F414L |
probably benign |
Het |
| Chst15 |
C |
T |
7: 131,870,831 (GRCm39) |
V235I |
probably benign |
Het |
| Dysf |
G |
T |
6: 84,167,880 (GRCm39) |
|
probably null |
Het |
| Elavl2 |
T |
C |
4: 91,149,190 (GRCm39) |
D174G |
probably damaging |
Het |
| Gapdhs |
T |
A |
7: 30,429,308 (GRCm39) |
|
probably null |
Het |
| Gnb1l |
G |
A |
16: 18,371,285 (GRCm39) |
G259R |
probably damaging |
Het |
| Ighv9-2 |
T |
G |
12: 114,072,857 (GRCm39) |
I39L |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,907,936 (GRCm39) |
N474K |
possibly damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,727,481 (GRCm39) |
|
probably benign |
Het |
| Lyn |
C |
T |
4: 3,745,594 (GRCm39) |
A131V |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,563,826 (GRCm39) |
E168G |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,611,821 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,984 (GRCm39) |
Q513R |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 50,498,233 (GRCm39) |
I597F |
probably damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,430 (GRCm39) |
R72S |
probably benign |
Het |
| Pan2 |
C |
T |
10: 128,146,604 (GRCm39) |
R414* |
probably null |
Het |
| Rb1 |
T |
C |
14: 73,443,452 (GRCm39) |
R768G |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,550,255 (GRCm39) |
E440G |
possibly damaging |
Het |
| Serpinb3a |
C |
T |
1: 106,977,183 (GRCm39) |
|
probably benign |
Het |
| Stx8 |
C |
A |
11: 67,875,391 (GRCm39) |
T72K |
probably damaging |
Het |
| Tecrl |
A |
G |
5: 83,502,844 (GRCm39) |
F2L |
probably benign |
Het |
| Tmem263 |
C |
T |
10: 84,950,416 (GRCm39) |
T69I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,547,359 (GRCm39) |
L32229P |
probably damaging |
Het |
| Zfp358 |
T |
C |
8: 3,546,074 (GRCm39) |
F219L |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation