Incidental Mutation 'R6247:Ttc41'
| ID |
505707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
044366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6247 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86612527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1267
(V1267L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
[ENSMUST00000099396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075632
AA Change: V1267L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: V1267L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
|
Pfam:NACHT
|
337 |
515 |
5.4e-10 |
PFAM |
|
SCOP:d1qqea_
|
805 |
1028 |
2e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099396
|
| SMART Domains |
Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
25 |
N/A |
INTRINSIC |
|
Pfam:5_nucleotid
|
83 |
526 |
1.8e-159 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219476
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,049,768 (GRCm39) |
D871G |
probably benign |
Het |
| A4galt |
G |
T |
15: 83,112,020 (GRCm39) |
H254Q |
probably damaging |
Het |
| AA986860 |
C |
A |
1: 130,670,780 (GRCm39) |
T334K |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,353,874 (GRCm39) |
I3732T |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,271,956 (GRCm39) |
D353N |
probably damaging |
Het |
| Adss1 |
A |
G |
12: 112,594,790 (GRCm39) |
H83R |
probably damaging |
Het |
| Amer2 |
C |
A |
14: 60,616,321 (GRCm39) |
A172E |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,787,199 (GRCm39) |
T2300A |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,215,879 (GRCm39) |
|
probably null |
Het |
| Apob |
G |
A |
12: 8,051,801 (GRCm39) |
G1109D |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,288,381 (GRCm39) |
N484Y |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,793,023 (GRCm39) |
D376G |
probably damaging |
Het |
| Caml |
T |
C |
13: 55,772,986 (GRCm39) |
|
probably null |
Het |
| Capn12 |
T |
C |
7: 28,588,077 (GRCm39) |
L473S |
probably benign |
Het |
| Cdk6 |
G |
A |
5: 3,394,553 (GRCm39) |
|
probably null |
Het |
| Cers5 |
A |
T |
15: 99,643,805 (GRCm39) |
C153S |
probably benign |
Het |
| Cfap206 |
T |
C |
4: 34,692,530 (GRCm39) |
M499V |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,791,968 (GRCm39) |
M2463T |
probably damaging |
Het |
| Chn1 |
T |
C |
2: 73,537,350 (GRCm39) |
E58G |
possibly damaging |
Het |
| Clec4a1 |
T |
C |
6: 122,905,001 (GRCm39) |
V100A |
probably benign |
Het |
| Col7a1 |
G |
C |
9: 108,810,130 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,246,249 (GRCm39) |
V1050A |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,497,889 (GRCm39) |
C1044S |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,265,048 (GRCm39) |
T2181A |
probably benign |
Het |
| Dnai1 |
T |
C |
4: 41,605,775 (GRCm39) |
V255A |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,135,078 (GRCm39) |
C1518R |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,043,981 (GRCm39) |
V273A |
probably damaging |
Het |
| Eif1 |
C |
T |
11: 100,211,223 (GRCm39) |
|
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,908,313 (GRCm39) |
I58T |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,709,552 (GRCm39) |
I408N |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,902,747 (GRCm39) |
E351G |
probably benign |
Het |
| Focad |
G |
A |
4: 88,325,377 (GRCm39) |
A81T |
possibly damaging |
Het |
| Fpr-rs4 |
G |
A |
17: 18,242,748 (GRCm39) |
V252I |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,222,824 (GRCm39) |
L1919P |
probably damaging |
Het |
| Gm12185 |
C |
T |
11: 48,806,735 (GRCm39) |
R152H |
probably damaging |
Het |
| Gm14410 |
C |
T |
2: 176,885,517 (GRCm39) |
G249E |
probably damaging |
Het |
| Gm6685 |
A |
T |
11: 28,289,706 (GRCm39) |
S37T |
possibly damaging |
Het |
| Greb1 |
G |
A |
12: 16,766,676 (GRCm39) |
P374L |
probably damaging |
Het |
| Hdac4 |
A |
T |
1: 91,940,560 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
A |
T |
13: 14,409,010 (GRCm39) |
L1099* |
probably null |
Het |
| Hivep1 |
T |
C |
13: 42,310,966 (GRCm39) |
S1069P |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,784,959 (GRCm39) |
I288T |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,317,612 (GRCm39) |
M96V |
possibly damaging |
Het |
| Kncn |
T |
A |
4: 115,741,987 (GRCm39) |
V18E |
probably damaging |
Het |
| Lrrc74a |
G |
A |
12: 86,805,330 (GRCm39) |
G384D |
probably damaging |
Het |
| Ltb4r2 |
T |
C |
14: 56,000,108 (GRCm39) |
V243A |
probably damaging |
Het |
| Mtnr1b |
T |
A |
9: 15,774,082 (GRCm39) |
I326L |
probably benign |
Het |
| Mylip |
C |
T |
13: 45,561,957 (GRCm39) |
T253I |
probably damaging |
Het |
| Necap1 |
T |
A |
6: 122,857,611 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
C |
T |
9: 72,633,720 (GRCm39) |
P409S |
probably damaging |
Het |
| Npat |
A |
T |
9: 53,456,538 (GRCm39) |
E36D |
probably damaging |
Het |
| Ovch2 |
C |
T |
7: 107,384,648 (GRCm39) |
V490M |
probably damaging |
Het |
| Pax9 |
T |
C |
12: 56,756,480 (GRCm39) |
S273P |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,734,289 (GRCm39) |
E1563G |
probably damaging |
Het |
| Podxl2 |
C |
A |
6: 88,826,299 (GRCm39) |
G336* |
probably null |
Het |
| Prdm1 |
A |
G |
10: 44,322,782 (GRCm39) |
|
probably null |
Het |
| Psme4 |
T |
C |
11: 30,803,245 (GRCm39) |
I29T |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 75,984,528 (GRCm39) |
D780E |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,581,918 (GRCm39) |
M294T |
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,764,672 (GRCm39) |
V652D |
probably damaging |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Serpinb3d |
G |
T |
1: 107,010,490 (GRCm39) |
T66K |
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,296,461 (GRCm39) |
|
probably benign |
Het |
| Slc7a10 |
G |
T |
7: 34,886,012 (GRCm39) |
A36S |
possibly damaging |
Het |
| Sstr3 |
T |
A |
15: 78,423,788 (GRCm39) |
I320F |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,299,071 (GRCm39) |
A1005E |
probably damaging |
Het |
| Syngap1 |
C |
A |
17: 27,181,931 (GRCm39) |
S975* |
probably null |
Het |
| Tinagl1 |
C |
T |
4: 130,066,725 (GRCm39) |
C124Y |
probably null |
Het |
| Tm9sf1 |
C |
T |
14: 55,873,827 (GRCm39) |
R557H |
probably damaging |
Het |
| Tmed2 |
T |
A |
5: 124,685,055 (GRCm39) |
I68K |
possibly damaging |
Het |
| Tmem104 |
A |
G |
11: 115,134,819 (GRCm39) |
T451A |
probably benign |
Het |
| Tmem141 |
T |
C |
2: 25,511,693 (GRCm39) |
|
probably null |
Het |
| Tmem184a |
C |
A |
5: 139,798,827 (GRCm39) |
V41L |
probably benign |
Het |
| Tmem39b |
C |
T |
4: 129,580,584 (GRCm39) |
V303I |
possibly damaging |
Het |
| Tsn |
T |
C |
1: 118,232,939 (GRCm39) |
I122V |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,202,309 (GRCm39) |
L1096Q |
probably damaging |
Het |
| Usp50 |
A |
T |
2: 126,617,713 (GRCm39) |
I244N |
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,471,498 (GRCm39) |
S760G |
probably benign |
Het |
| Wasf1 |
T |
A |
10: 40,813,741 (GRCm39) |
V541E |
unknown |
Het |
| Zc3h13 |
G |
T |
14: 75,581,176 (GRCm39) |
S1721I |
probably benign |
Het |
| Zfp180 |
G |
T |
7: 23,804,530 (GRCm39) |
K316N |
probably damaging |
Het |
| Zfp582 |
T |
C |
7: 6,356,945 (GRCm39) |
C253R |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,288,524 (GRCm39) |
T692A |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,329,758 (GRCm39) |
V476A |
probably benign |
Het |
|
| Other mutations in Ttc41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Ttc41
|
APN |
10 |
86,572,797 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01373:Ttc41
|
APN |
10 |
86,611,821 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01636:Ttc41
|
APN |
10 |
86,612,542 (GRCm39) |
missense |
probably benign |
|
|
IGL01707:Ttc41
|
APN |
10 |
86,612,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01814:Ttc41
|
APN |
10 |
86,566,890 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01845:Ttc41
|
APN |
10 |
86,612,488 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01918:Ttc41
|
APN |
10 |
86,549,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Ttc41
|
APN |
10 |
86,611,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02489:Ttc41
|
APN |
10 |
86,596,778 (GRCm39) |
nonsense |
probably null |
|
|
IGL02887:Ttc41
|
APN |
10 |
86,569,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Ttc41
|
APN |
10 |
86,572,721 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03077:Ttc41
|
APN |
10 |
86,594,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Ttc41
|
APN |
10 |
86,560,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03242:Ttc41
|
APN |
10 |
86,612,683 (GRCm39) |
makesense |
probably null |
|
|
IGL03307:Ttc41
|
APN |
10 |
86,580,304 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
BB003:Ttc41
|
UTSW |
10 |
86,611,911 (GRCm39) |
missense |
probably benign |
0.10 |
|
BB013:Ttc41
|
UTSW |
10 |
86,611,911 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0071:Ttc41
|
UTSW |
10 |
86,572,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0071:Ttc41
|
UTSW |
10 |
86,572,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0379:Ttc41
|
UTSW |
10 |
86,548,841 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0384:Ttc41
|
UTSW |
10 |
86,599,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Ttc41
|
UTSW |
10 |
86,594,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1589:Ttc41
|
UTSW |
10 |
86,612,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1599:Ttc41
|
UTSW |
10 |
86,612,437 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1608:Ttc41
|
UTSW |
10 |
86,611,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Ttc41
|
UTSW |
10 |
86,612,116 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1938:Ttc41
|
UTSW |
10 |
86,612,078 (GRCm39) |
missense |
probably benign |
|
|
R2398:Ttc41
|
UTSW |
10 |
86,549,250 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2401:Ttc41
|
UTSW |
10 |
86,560,238 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3117:Ttc41
|
UTSW |
10 |
86,560,184 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3119:Ttc41
|
UTSW |
10 |
86,560,184 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4805:Ttc41
|
UTSW |
10 |
86,565,662 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4840:Ttc41
|
UTSW |
10 |
86,566,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4841:Ttc41
|
UTSW |
10 |
86,566,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4842:Ttc41
|
UTSW |
10 |
86,566,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4884:Ttc41
|
UTSW |
10 |
86,566,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4885:Ttc41
|
UTSW |
10 |
86,594,966 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4898:Ttc41
|
UTSW |
10 |
86,612,056 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5067:Ttc41
|
UTSW |
10 |
86,580,408 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5253:Ttc41
|
UTSW |
10 |
86,566,806 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5268:Ttc41
|
UTSW |
10 |
86,580,342 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5297:Ttc41
|
UTSW |
10 |
86,612,443 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5301:Ttc41
|
UTSW |
10 |
86,555,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5425:Ttc41
|
UTSW |
10 |
86,612,494 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5567:Ttc41
|
UTSW |
10 |
86,596,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5635:Ttc41
|
UTSW |
10 |
86,572,841 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5752:Ttc41
|
UTSW |
10 |
86,594,210 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5868:Ttc41
|
UTSW |
10 |
86,586,128 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5948:Ttc41
|
UTSW |
10 |
86,549,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Ttc41
|
UTSW |
10 |
86,594,952 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6260:Ttc41
|
UTSW |
10 |
86,569,571 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6260:Ttc41
|
UTSW |
10 |
86,567,023 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6276:Ttc41
|
UTSW |
10 |
86,580,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6458:Ttc41
|
UTSW |
10 |
86,594,134 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7170:Ttc41
|
UTSW |
10 |
86,549,367 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7348:Ttc41
|
UTSW |
10 |
86,586,212 (GRCm39) |
nonsense |
probably null |
|
|
R7382:Ttc41
|
UTSW |
10 |
86,612,374 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7509:Ttc41
|
UTSW |
10 |
86,549,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Ttc41
|
UTSW |
10 |
86,595,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7807:Ttc41
|
UTSW |
10 |
86,612,495 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7926:Ttc41
|
UTSW |
10 |
86,611,911 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7998:Ttc41
|
UTSW |
10 |
86,572,711 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8021:Ttc41
|
UTSW |
10 |
86,569,578 (GRCm39) |
missense |
probably benign |
|
|
R8059:Ttc41
|
UTSW |
10 |
86,548,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8170:Ttc41
|
UTSW |
10 |
86,612,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Ttc41
|
UTSW |
10 |
86,555,494 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8375:Ttc41
|
UTSW |
10 |
86,599,844 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8383:Ttc41
|
UTSW |
10 |
86,555,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8698:Ttc41
|
UTSW |
10 |
86,548,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8773:Ttc41
|
UTSW |
10 |
86,565,679 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8902:Ttc41
|
UTSW |
10 |
86,548,865 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8985:Ttc41
|
UTSW |
10 |
86,566,956 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8988:Ttc41
|
UTSW |
10 |
86,549,599 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9007:Ttc41
|
UTSW |
10 |
86,569,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9137:Ttc41
|
UTSW |
10 |
86,612,486 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9236:Ttc41
|
UTSW |
10 |
86,612,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Ttc41
|
UTSW |
10 |
86,567,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9287:Ttc41
|
UTSW |
10 |
86,599,830 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9345:Ttc41
|
UTSW |
10 |
86,595,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9386:Ttc41
|
UTSW |
10 |
86,548,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9500:Ttc41
|
UTSW |
10 |
86,565,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9570:Ttc41
|
UTSW |
10 |
86,549,598 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9593:Ttc41
|
UTSW |
10 |
86,549,049 (GRCm39) |
missense |
probably benign |
0.24 |
|
X0024:Ttc41
|
UTSW |
10 |
86,560,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ttc41
|
UTSW |
10 |
86,565,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
|
| Posted On |
2018-02-28 |
Incidental Mutation