Incidental Mutation 'IGL03398:Ttc5'
| ID |
421326 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc5
|
| Ensembl Gene |
ENSMUSG00000006288 |
| Gene Name |
tetratricopeptide repeat domain 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
IGL03398
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51002872-51022976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51018964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 51
(E51G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006451]
[ENSMUST00000226768]
[ENSMUST00000228440]
|
| AlphaFold |
Q99LG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006451
AA Change: E51G
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000006451
Gene: ENSMUSG00000006288
AA Change: E51G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_2
|
103 |
136 |
1.6e-5 |
PFAM |
|
Blast:TPR
|
224 |
257 |
2e-8 |
BLAST |
|
low complexity region
|
261 |
280 |
N/A |
INTRINSIC |
|
Pfam:TTC5_OB
|
318 |
432 |
3.3e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226768
AA Change: E51G
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227934
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228440
AA Change: E51G
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,039,566 (GRCm39) |
I248L |
probably benign |
Het |
| Ackr2 |
C |
T |
9: 121,737,654 (GRCm39) |
L10F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,789,890 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,564,094 (GRCm39) |
E355G |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,889,522 (GRCm39) |
V1031A |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,914,527 (GRCm39) |
V1719E |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,461,539 (GRCm39) |
N1284D |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,164 (GRCm39) |
D549G |
probably benign |
Het |
| Dhx32 |
A |
G |
7: 133,361,254 (GRCm39) |
Y60H |
probably damaging |
Het |
| Elapor1 |
A |
T |
3: 108,368,537 (GRCm39) |
V818D |
possibly damaging |
Het |
| Fcamr |
A |
G |
1: 130,730,985 (GRCm39) |
I79M |
probably damaging |
Het |
| Filip1 |
A |
G |
9: 79,726,225 (GRCm39) |
V798A |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,510,817 (GRCm39) |
N324T |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nsl1 |
T |
C |
1: 190,814,361 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,548,336 (GRCm39) |
I483T |
probably damaging |
Het |
| Ppp2r5e |
A |
C |
12: 75,509,179 (GRCm39) |
W367G |
possibly damaging |
Het |
| Pramel31 |
A |
G |
4: 144,090,061 (GRCm39) |
D367G |
probably damaging |
Het |
| Serpini2 |
G |
A |
3: 75,166,852 (GRCm39) |
T135I |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,403,182 (GRCm39) |
N955I |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,370 (GRCm39) |
Y2055H |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,459,098 (GRCm39) |
N111D |
probably damaging |
Het |
| Usp47 |
A |
T |
7: 111,673,710 (GRCm39) |
E334V |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,769,247 (GRCm39) |
K2227E |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,286,798 (GRCm39) |
E464G |
probably damaging |
Het |
|
| Other mutations in Ttc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0665:Ttc5
|
UTSW |
14 |
51,003,415 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0667:Ttc5
|
UTSW |
14 |
51,003,415 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1125:Ttc5
|
UTSW |
14 |
51,015,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1186:Ttc5
|
UTSW |
14 |
51,004,683 (GRCm39) |
nonsense |
probably null |
|
|
R2011:Ttc5
|
UTSW |
14 |
51,019,007 (GRCm39) |
nonsense |
probably null |
|
|
R2119:Ttc5
|
UTSW |
14 |
51,012,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Ttc5
|
UTSW |
14 |
51,018,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6050:Ttc5
|
UTSW |
14 |
51,010,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Ttc5
|
UTSW |
14 |
51,015,303 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6329:Ttc5
|
UTSW |
14 |
51,003,385 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6451:Ttc5
|
UTSW |
14 |
51,004,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6612:Ttc5
|
UTSW |
14 |
51,022,926 (GRCm39) |
splice site |
probably null |
|
|
R7311:Ttc5
|
UTSW |
14 |
51,003,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7669:Ttc5
|
UTSW |
14 |
51,014,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7712:Ttc5
|
UTSW |
14 |
51,010,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation