Incidental Mutation 'R4582:Ttc7b'
| ID |
343749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc7b
|
| Ensembl Gene |
ENSMUSG00000033530 |
| Gene Name |
tetratricopeptide repeat domain 7B |
| Synonyms |
Ttc7l1 |
| MMRRC Submission |
041803-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.332)
|
| Stock # |
R4582 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
100267029-100487085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100466376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 79
(R79C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062957]
[ENSMUST00000223020]
|
| AlphaFold |
E9Q6P5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062957
AA Change: R79C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: R79C
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
397 |
430 |
8.76e-1 |
SMART |
|
Blast:TPR
|
471 |
514 |
5e-9 |
BLAST |
|
TPR
|
515 |
548 |
2.77e1 |
SMART |
|
TPR
|
549 |
582 |
2.01e0 |
SMART |
|
TPR
|
696 |
729 |
9.7e0 |
SMART |
|
TPR
|
730 |
763 |
7.98e-4 |
SMART |
|
TPR
|
764 |
797 |
6.1e0 |
SMART |
|
TPR
|
798 |
831 |
2.74e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222036
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223020
AA Change: R79C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223444
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
A |
T |
15: 41,732,681 (GRCm39) |
D128E |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,749,369 (GRCm39) |
V1006E |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
| Brd9 |
T |
C |
13: 74,095,852 (GRCm39) |
F366L |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,095,508 (GRCm39) |
F118L |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,343,465 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,722,922 (GRCm39) |
F189L |
probably damaging |
Het |
| Cfap45 |
A |
G |
1: 172,357,479 (GRCm39) |
T36A |
probably benign |
Het |
| Clec4a1 |
G |
T |
6: 122,909,150 (GRCm39) |
V173L |
possibly damaging |
Het |
| Col6a5 |
G |
A |
9: 105,739,963 (GRCm39) |
T2552I |
probably benign |
Het |
| Dcaf15 |
A |
G |
8: 84,824,598 (GRCm39) |
V533A |
probably damaging |
Het |
| Dhrs9 |
A |
T |
2: 69,227,997 (GRCm39) |
I204F |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
| Eef1akmt1 |
T |
C |
14: 57,787,905 (GRCm39) |
D151G |
probably damaging |
Het |
| Eif4g3 |
G |
A |
4: 137,898,556 (GRCm39) |
R1109H |
probably damaging |
Het |
| Gtpbp10 |
T |
C |
5: 5,592,395 (GRCm39) |
T191A |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,424,482 (GRCm39) |
N714S |
possibly damaging |
Het |
| Lima1 |
T |
C |
15: 99,678,873 (GRCm39) |
T523A |
possibly damaging |
Het |
| Lipe |
A |
G |
7: 25,097,127 (GRCm39) |
L272P |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,741,532 (GRCm39) |
E554G |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,580 (GRCm39) |
S488G |
possibly damaging |
Het |
| Man2a1 |
C |
T |
17: 65,059,494 (GRCm39) |
A1127V |
probably benign |
Het |
| Naglu |
A |
T |
11: 100,962,755 (GRCm39) |
I187F |
probably damaging |
Het |
| Nt5c1b |
T |
A |
12: 10,440,054 (GRCm39) |
M548K |
probably damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,090 (GRCm39) |
I217N |
probably damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,027 (GRCm39) |
V272E |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,080,485 (GRCm39) |
V409A |
probably benign |
Het |
| Pde6b |
A |
T |
5: 108,573,097 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
A |
T |
5: 104,650,210 (GRCm39) |
K857* |
probably null |
Het |
| Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
| Sacs |
G |
A |
14: 61,429,147 (GRCm39) |
G402D |
probably damaging |
Het |
| Slc22a5 |
C |
T |
11: 53,782,035 (GRCm39) |
E111K |
probably damaging |
Het |
| Sptbn1 |
G |
A |
11: 30,169,597 (GRCm39) |
R44C |
probably damaging |
Het |
| Taf1 |
T |
C |
X: 100,637,601 (GRCm39) |
V1696A |
possibly damaging |
Het |
| Tm9sf3 |
C |
A |
19: 41,244,605 (GRCm39) |
G91C |
probably damaging |
Het |
| Tmie |
T |
G |
9: 110,702,865 (GRCm39) |
E32A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsga13 |
A |
T |
6: 30,879,298 (GRCm39) |
N138K |
probably benign |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,463 (GRCm39) |
D87V |
possibly damaging |
Het |
| Vdac3-ps1 |
A |
T |
13: 18,206,177 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r29 |
A |
C |
6: 58,285,017 (GRCm39) |
I246L |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,743,382 (GRCm39) |
V310A |
probably benign |
Het |
|
| Other mutations in Ttc7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Ttc7b
|
APN |
12 |
100,342,472 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01377:Ttc7b
|
APN |
12 |
100,321,371 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01617:Ttc7b
|
APN |
12 |
100,352,215 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02928:Ttc7b
|
APN |
12 |
100,369,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03183:Ttc7b
|
APN |
12 |
100,339,968 (GRCm39) |
splice site |
probably null |
|
|
IGL03341:Ttc7b
|
APN |
12 |
100,291,994 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0302:Ttc7b
|
UTSW |
12 |
100,353,438 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0620:Ttc7b
|
UTSW |
12 |
100,466,332 (GRCm39) |
splice site |
probably null |
|
|
R0625:Ttc7b
|
UTSW |
12 |
100,321,305 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1016:Ttc7b
|
UTSW |
12 |
100,369,617 (GRCm39) |
missense |
probably null |
1.00 |
|
R1131:Ttc7b
|
UTSW |
12 |
100,348,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1241:Ttc7b
|
UTSW |
12 |
100,369,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1710:Ttc7b
|
UTSW |
12 |
100,369,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1803:Ttc7b
|
UTSW |
12 |
100,373,261 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1887:Ttc7b
|
UTSW |
12 |
100,381,389 (GRCm39) |
splice site |
probably null |
|
|
R1920:Ttc7b
|
UTSW |
12 |
100,381,389 (GRCm39) |
splice site |
probably null |
|
|
R1921:Ttc7b
|
UTSW |
12 |
100,381,389 (GRCm39) |
splice site |
probably null |
|
|
R1922:Ttc7b
|
UTSW |
12 |
100,381,389 (GRCm39) |
splice site |
probably null |
|
|
R2062:Ttc7b
|
UTSW |
12 |
100,291,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Ttc7b
|
UTSW |
12 |
100,321,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2380:Ttc7b
|
UTSW |
12 |
100,321,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4581:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4598:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4599:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4600:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4601:Ttc7b
|
UTSW |
12 |
100,466,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4779:Ttc7b
|
UTSW |
12 |
100,369,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Ttc7b
|
UTSW |
12 |
100,268,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5244:Ttc7b
|
UTSW |
12 |
100,314,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5387:Ttc7b
|
UTSW |
12 |
100,413,222 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5739:Ttc7b
|
UTSW |
12 |
100,350,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Ttc7b
|
UTSW |
12 |
100,339,819 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6223:Ttc7b
|
UTSW |
12 |
100,353,368 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6238:Ttc7b
|
UTSW |
12 |
100,461,681 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6318:Ttc7b
|
UTSW |
12 |
100,291,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6494:Ttc7b
|
UTSW |
12 |
100,461,666 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7153:Ttc7b
|
UTSW |
12 |
100,321,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Ttc7b
|
UTSW |
12 |
100,350,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Ttc7b
|
UTSW |
12 |
100,413,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8364:Ttc7b
|
UTSW |
12 |
100,291,817 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8536:Ttc7b
|
UTSW |
12 |
100,339,803 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8719:Ttc7b
|
UTSW |
12 |
100,267,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8932:Ttc7b
|
UTSW |
12 |
100,268,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8992:Ttc7b
|
UTSW |
12 |
100,466,433 (GRCm39) |
missense |
probably benign |
|
|
R9674:Ttc7b
|
UTSW |
12 |
100,432,553 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9731:Ttc7b
|
UTSW |
12 |
100,461,683 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATACACTGATCAGGCAGG -3'
(R):5'- CGGAAGCTTAGTGCATGTGG -3'
Sequencing Primer
(F):5'- ACTGATCAGGCAGGGCGTG -3'
(R):5'- GAGGTGCTCAGGGCTTTCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation