Incidental Mutation 'R0625:Ttc7b'
ID |
57435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc7b
|
Ensembl Gene |
ENSMUSG00000033530 |
Gene Name |
tetratricopeptide repeat domain 7B |
Synonyms |
Ttc7l1 |
MMRRC Submission |
038814-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.353)
|
Stock # |
R0625 (G1)
|
Quality Score |
198 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
100267029-100487085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100321305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 24
(M24L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062957]
[ENSMUST00000223020]
[ENSMUST00000223110]
|
AlphaFold |
E9Q6P5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062957
AA Change: M609L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000052107 Gene: ENSMUSG00000033530 AA Change: M609L
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 |
probably benign
Transcript: ENSMUST00000223020
AA Change: M609L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223110
AA Change: M24L
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
T |
C |
9: 53,319,365 (GRCm39) |
S2P |
probably benign |
Het |
Abca16 |
A |
C |
7: 120,035,116 (GRCm39) |
T301P |
probably damaging |
Het |
Acer2 |
A |
G |
4: 86,805,399 (GRCm39) |
D121G |
possibly damaging |
Het |
Adgrd1 |
T |
C |
5: 129,248,995 (GRCm39) |
|
probably null |
Het |
Arhgap11a |
T |
C |
2: 113,672,056 (GRCm39) |
I249V |
probably benign |
Het |
Arhgap22 |
A |
G |
14: 33,088,671 (GRCm39) |
E219G |
probably benign |
Het |
C2cd4b |
T |
A |
9: 67,667,033 (GRCm39) |
S10T |
probably benign |
Het |
Cnot6 |
A |
T |
11: 49,573,998 (GRCm39) |
I224N |
probably damaging |
Het |
Ctrc |
T |
C |
4: 141,568,829 (GRCm39) |
T125A |
probably damaging |
Het |
Cxxc5 |
T |
G |
18: 35,991,642 (GRCm39) |
S14R |
unknown |
Het |
Cyp4f37 |
T |
G |
17: 32,853,652 (GRCm39) |
F445L |
probably damaging |
Het |
Dcbld1 |
T |
G |
10: 52,188,946 (GRCm39) |
I186S |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,289,986 (GRCm39) |
T2510A |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,671,110 (GRCm39) |
I591T |
possibly damaging |
Het |
Dock5 |
A |
T |
14: 68,078,612 (GRCm39) |
I204N |
probably benign |
Het |
Dysf |
G |
A |
6: 84,088,969 (GRCm39) |
|
probably null |
Het |
Erich5 |
A |
G |
15: 34,471,515 (GRCm39) |
E248G |
probably damaging |
Het |
Fhip1a |
A |
G |
3: 85,637,807 (GRCm39) |
V164A |
possibly damaging |
Het |
Foxm1 |
A |
G |
6: 128,350,834 (GRCm39) |
S712G |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,284,055 (GRCm39) |
T959A |
probably benign |
Het |
Gfra4 |
C |
T |
2: 130,882,176 (GRCm39) |
V277I |
probably null |
Het |
Hacd4 |
T |
C |
4: 88,353,247 (GRCm39) |
I82V |
probably benign |
Het |
Itih2 |
C |
T |
2: 10,128,225 (GRCm39) |
V159I |
possibly damaging |
Het |
Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
Marchf11 |
A |
G |
15: 26,311,129 (GRCm39) |
I202V |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,944,902 (GRCm39) |
|
probably null |
Het |
Med12l |
G |
A |
3: 59,154,858 (GRCm39) |
E1135K |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mlx |
T |
C |
11: 100,978,608 (GRCm39) |
L78P |
possibly damaging |
Het |
Muc5b |
T |
C |
7: 141,400,164 (GRCm39) |
C473R |
unknown |
Het |
N4bp2l1 |
T |
A |
5: 150,500,210 (GRCm39) |
R66* |
probably null |
Het |
Nes |
A |
G |
3: 87,884,479 (GRCm39) |
T913A |
possibly damaging |
Het |
Oas1a |
T |
C |
5: 121,037,322 (GRCm39) |
E235G |
probably damaging |
Het |
Or5p56 |
T |
C |
7: 107,590,396 (GRCm39) |
S275P |
probably damaging |
Het |
Or8b1c |
T |
C |
9: 38,384,504 (GRCm39) |
S154P |
possibly damaging |
Het |
Or8i2 |
T |
A |
2: 86,851,964 (GRCm39) |
H308L |
probably benign |
Het |
Parn |
C |
T |
16: 13,458,158 (GRCm39) |
V286I |
probably benign |
Het |
Paxip1 |
G |
A |
5: 27,970,940 (GRCm39) |
Q470* |
probably null |
Het |
Phc2 |
C |
G |
4: 128,617,503 (GRCm39) |
H510D |
possibly damaging |
Het |
Pla2g4f |
T |
A |
2: 120,135,522 (GRCm39) |
D384V |
probably damaging |
Het |
Plpbp |
A |
T |
8: 27,535,159 (GRCm39) |
N68I |
probably damaging |
Het |
Podxl2 |
G |
A |
6: 88,826,937 (GRCm39) |
A123V |
possibly damaging |
Het |
Pole |
A |
T |
5: 110,473,416 (GRCm39) |
T1737S |
possibly damaging |
Het |
Ppp3cc |
T |
C |
14: 70,462,476 (GRCm39) |
E396G |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,321,352 (GRCm39) |
I228F |
probably benign |
Het |
Prl7d1 |
A |
T |
13: 27,894,123 (GRCm39) |
C149S |
probably benign |
Het |
Qtrt1 |
G |
T |
9: 21,329,584 (GRCm39) |
M217I |
probably benign |
Het |
Sec24a |
T |
A |
11: 51,620,281 (GRCm39) |
D456V |
probably damaging |
Het |
Shox2 |
T |
G |
3: 66,888,877 (GRCm39) |
|
probably null |
Het |
Skint2 |
T |
A |
4: 112,481,283 (GRCm39) |
S49T |
probably damaging |
Het |
Smarca5 |
A |
G |
8: 81,447,315 (GRCm39) |
|
probably null |
Het |
Sorcs2 |
T |
A |
5: 36,181,916 (GRCm39) |
D1068V |
possibly damaging |
Het |
Tmem114 |
T |
C |
16: 8,229,966 (GRCm39) |
|
probably null |
Het |
Ttll3 |
A |
G |
6: 113,385,864 (GRCm39) |
|
probably null |
Het |
Usp7 |
C |
T |
16: 8,522,846 (GRCm39) |
D102N |
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 |
|
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 |
|
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'- GTGACCTGATAGCAACACAGATCCC -3'
(R):5'- GCCGCAGACTGAGCCTCTTATG -3'
Sequencing Primer
(F):5'- GATGCTAAGACTCGCCATTG -3'
(R):5'- AGACTGAGCCTCTTATGTAGTTTGC -3'
|
Posted On |
2013-07-11 |