Incidental Mutation 'R6238:Ttc7b'
| ID |
505073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc7b
|
| Ensembl Gene |
ENSMUSG00000033530 |
| Gene Name |
tetratricopeptide repeat domain 7B |
| Synonyms |
Ttc7l1 |
| MMRRC Submission |
044401-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.332)
|
| Stock # |
R6238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100267029-100487085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100461681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 99
(S99P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062957]
[ENSMUST00000223020]
|
| AlphaFold |
E9Q6P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062957
AA Change: S99P
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: S99P
| 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 benign
Transcript: ENSMUST00000223020
AA Change: S99P
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223444
|
| Meta Mutation Damage Score |
0.0811 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
C |
10: 76,285,096 (GRCm39) |
T2P |
possibly damaging |
Het |
| 2610042L04Rik |
A |
G |
14: 4,348,962 (GRCm38) |
N41S |
probably damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,747,863 (GRCm39) |
D43G |
probably benign |
Het |
| Adcy10 |
C |
A |
1: 165,403,297 (GRCm39) |
Y1598* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,614,402 (GRCm39) |
T3997M |
probably benign |
Het |
| Amfr |
A |
C |
8: 94,726,992 (GRCm39) |
F74V |
probably damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,924,787 (GRCm39) |
Y91H |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,464,732 (GRCm39) |
S767P |
probably benign |
Het |
| Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
| Casp9 |
G |
T |
4: 141,534,448 (GRCm39) |
G286V |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,828,577 (GRCm39) |
D18E |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,419,270 (GRCm39) |
N221D |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,244,339 (GRCm39) |
S41P |
possibly damaging |
Het |
| Cenpo |
T |
A |
12: 4,281,968 (GRCm39) |
S10C |
possibly damaging |
Het |
| Chid1 |
A |
G |
7: 141,076,049 (GRCm39) |
V368A |
probably benign |
Het |
| Clca3a1 |
C |
A |
3: 144,714,716 (GRCm39) |
V634L |
probably benign |
Het |
| Cmtr1 |
A |
G |
17: 29,901,122 (GRCm39) |
D683G |
probably damaging |
Het |
| Cpsf3 |
G |
T |
12: 21,350,163 (GRCm39) |
R294L |
probably damaging |
Het |
| Ddrgk1 |
G |
A |
2: 130,496,599 (GRCm39) |
T255M |
possibly damaging |
Het |
| Dennd6a |
T |
A |
14: 26,337,813 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,820,743 (GRCm39) |
R526G |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,790,147 (GRCm39) |
T1484I |
probably benign |
Het |
| Efcab10 |
T |
C |
12: 33,448,433 (GRCm39) |
Y89H |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,806,379 (GRCm39) |
D1200E |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,166,865 (GRCm39) |
D2017V |
probably damaging |
Het |
| Ftmt |
G |
A |
18: 52,465,307 (GRCm39) |
V208M |
probably damaging |
Het |
| Fzd10 |
T |
C |
5: 128,679,995 (GRCm39) |
Y572H |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,742 (GRCm39) |
K39E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,118,743 (GRCm39) |
|
probably null |
Het |
| Lif |
A |
G |
11: 4,218,940 (GRCm39) |
E73G |
possibly damaging |
Het |
| Lrtm1 |
C |
A |
14: 28,749,628 (GRCm39) |
Q357K |
probably benign |
Het |
| Mef2d |
T |
A |
3: 88,066,852 (GRCm39) |
L205Q |
probably damaging |
Het |
| Naalad2 |
T |
A |
9: 18,296,361 (GRCm39) |
E96D |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,532,596 (GRCm39) |
I1768T |
probably benign |
Het |
| Nodal |
T |
C |
10: 61,259,258 (GRCm39) |
S232P |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,115 (GRCm39) |
I141F |
possibly damaging |
Het |
| Or8b12c |
A |
G |
9: 37,715,317 (GRCm39) |
T37A |
probably benign |
Het |
| Parl |
G |
A |
16: 20,120,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Pcdha9 |
G |
A |
18: 37,132,028 (GRCm39) |
V366I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,288,994 (GRCm39) |
V802A |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,472,504 (GRCm39) |
S1083T |
probably benign |
Het |
| Polr2a |
G |
T |
11: 69,638,047 (GRCm39) |
L141I |
possibly damaging |
Het |
| Ptpre |
C |
A |
7: 135,272,909 (GRCm39) |
R468S |
probably damaging |
Het |
| Raet1e |
T |
A |
10: 22,056,770 (GRCm39) |
N115K |
probably benign |
Het |
| Rfx8 |
C |
A |
1: 39,709,554 (GRCm39) |
S491I |
probably damaging |
Het |
| Rpe |
T |
A |
1: 66,740,807 (GRCm39) |
L48* |
probably null |
Het |
| Skint5 |
A |
T |
4: 113,800,064 (GRCm39) |
|
probably null |
Het |
| Spata24 |
C |
A |
18: 35,793,389 (GRCm39) |
S111I |
possibly damaging |
Het |
| Suz12 |
G |
C |
11: 79,893,006 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
T |
A |
2: 179,573,832 (GRCm39) |
I679F |
probably damaging |
Het |
| Tlr1 |
G |
T |
5: 65,084,472 (GRCm39) |
P35Q |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,520,418 (GRCm39) |
|
probably null |
Het |
| Tsen54 |
G |
A |
11: 115,711,513 (GRCm39) |
R310H |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uhmk1 |
T |
A |
1: 170,027,563 (GRCm39) |
N378I |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,849 (GRCm39) |
T55A |
probably benign |
Het |
| Vmn2r74 |
C |
T |
7: 85,601,280 (GRCm39) |
C786Y |
probably damaging |
Het |
| Wdr20rt |
C |
T |
12: 65,272,964 (GRCm39) |
|
probably benign |
Het |
| Zfand2a |
T |
A |
5: 139,467,746 (GRCm39) |
H42L |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,483 (GRCm39) |
C494S |
probably damaging |
Het |
| Zkscan4 |
A |
T |
13: 21,668,757 (GRCm39) |
R403W |
possibly damaging |
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 |
|
R4582: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 |
|
|
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'- TAGGCACAAGGGTTAACCAG -3'
(R):5'- TTTCTCACTGAGCCAGCTG -3'
Sequencing Primer
(F):5'- ACAAGGGTTAACCAGGCCCTG -3'
(R):5'- GTAAATTCAGCACTTCTGGGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation