Incidental Mutation 'R1125:Ttc5'
| ID |
96083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc5
|
| Ensembl Gene |
ENSMUSG00000006288 |
| Gene Name |
tetratricopeptide repeat domain 5 |
| Synonyms |
|
| MMRRC Submission |
039198-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R1125 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51002872-51022976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51015335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 92
(L92P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006451]
[ENSMUST00000226768]
[ENSMUST00000228440]
|
| AlphaFold |
Q99LG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006451
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006451
Gene: ENSMUSG00000006288
AA Change: L92P
| 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 |
probably damaging
Transcript: ENSMUST00000226768
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227934
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228440
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,898,378 (GRCm39) |
I254T |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,875,282 (GRCm39) |
D630G |
possibly damaging |
Het |
| Anks4b |
T |
G |
7: 119,781,580 (GRCm39) |
F204V |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,112,423 (GRCm39) |
V1204A |
probably damaging |
Het |
| C87436 |
T |
C |
6: 86,424,344 (GRCm39) |
V282A |
probably benign |
Het |
| Cav3 |
T |
A |
6: 112,449,257 (GRCm39) |
F92I |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,851,805 (GRCm39) |
V66E |
probably benign |
Het |
| Cd226 |
A |
G |
18: 89,286,046 (GRCm39) |
I172V |
probably benign |
Het |
| Cimip2b |
A |
G |
4: 43,427,550 (GRCm39) |
I258T |
probably damaging |
Het |
| Ctns |
C |
A |
11: 73,078,663 (GRCm39) |
|
probably null |
Het |
| Gid4 |
A |
G |
11: 60,315,607 (GRCm39) |
D66G |
possibly damaging |
Het |
| Glra3 |
A |
G |
8: 56,492,789 (GRCm39) |
D163G |
possibly damaging |
Het |
| Lrrc23 |
A |
G |
6: 124,753,145 (GRCm39) |
V167A |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,764,427 (GRCm39) |
L1979* |
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Necab1 |
T |
A |
4: 15,111,257 (GRCm39) |
D57V |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,277,214 (GRCm39) |
T160S |
possibly damaging |
Het |
| Plekhd1 |
C |
A |
12: 80,753,998 (GRCm39) |
Q155K |
possibly damaging |
Het |
| Ppara |
A |
G |
15: 85,673,256 (GRCm39) |
N149S |
possibly damaging |
Het |
| Slc30a5 |
C |
T |
13: 100,939,921 (GRCm39) |
V665M |
probably damaging |
Het |
| Sntb1 |
T |
G |
15: 55,612,676 (GRCm39) |
T301P |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,801,457 (GRCm39) |
T240S |
probably benign |
Het |
| Ttll10 |
A |
G |
4: 156,119,495 (GRCm39) |
S664P |
possibly damaging |
Het |
| Vmn2r45 |
G |
A |
7: 8,488,542 (GRCm39) |
R163C |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,717 (GRCm39) |
I231M |
probably damaging |
Het |
|
| Other mutations in Ttc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03398:Ttc5
|
APN |
14 |
51,018,964 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTGCCGCTCGAAGATCTACAC -3'
(R):5'- TTAGATGGCGTTTCCAGCCACTC -3'
Sequencing Primer
(F):5'- AGTTCTGATGCTTGCACCAG -3'
(R):5'- GGGAAAAATCCCCTGGTCTT -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation