Incidental Mutation 'R4841:Ttc41'
ID |
371843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc41
|
Ensembl Gene |
ENSMUSG00000044937 |
Gene Name |
tetratricopeptide repeat domain 41 |
Synonyms |
BC030307, Gnn |
MMRRC Submission |
042454-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R4841 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86566989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 552
(R552C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
[ENSMUST00000219108]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000070435
|
SMART Domains |
Protein: ENSMUSP00000136633 Gene: ENSMUSG00000056366
Domain | Start | End | E-Value | Type |
Pfam:Lipocalin_7
|
3 |
133 |
6.5e-13 |
PFAM |
Pfam:Lipocalin
|
6 |
132 |
2.9e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075632
AA Change: R552C
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000075059 Gene: ENSMUSG00000044937 AA Change: R552C
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: ENSMUST00000219108
AA Change: R552C
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
A |
T |
17: 15,164,001 (GRCm39) |
I43L |
possibly damaging |
Het |
4933427I04Rik |
T |
A |
4: 123,754,170 (GRCm39) |
M28K |
probably benign |
Het |
A2m |
A |
T |
6: 121,623,803 (GRCm39) |
I390F |
probably benign |
Het |
Abcc8 |
T |
C |
7: 45,800,252 (GRCm39) |
K510R |
probably damaging |
Het |
Adamts6 |
A |
G |
13: 104,449,295 (GRCm39) |
D39G |
probably benign |
Het |
Adgrl3 |
T |
C |
5: 81,942,118 (GRCm39) |
S1326P |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,651,120 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
G |
A |
7: 81,127,678 (GRCm39) |
A166V |
probably damaging |
Het |
Bbox1 |
T |
A |
2: 110,134,084 (GRCm39) |
|
probably null |
Het |
Bckdk |
A |
G |
7: 127,504,633 (GRCm39) |
|
probably null |
Het |
Cand1 |
C |
A |
10: 119,049,451 (GRCm39) |
|
probably null |
Het |
Capn5 |
T |
C |
7: 97,780,879 (GRCm39) |
|
probably null |
Het |
Ccdc121rt2 |
A |
T |
5: 112,598,106 (GRCm39) |
K218* |
probably null |
Het |
Cd209c |
G |
T |
8: 3,995,905 (GRCm39) |
R2S |
probably benign |
Het |
Ces1g |
C |
T |
8: 94,060,323 (GRCm39) |
E99K |
probably benign |
Het |
Cnmd |
A |
G |
14: 79,887,762 (GRCm39) |
I153T |
possibly damaging |
Het |
Cntrob |
C |
G |
11: 69,206,220 (GRCm39) |
L315F |
possibly damaging |
Het |
Cspg4b |
G |
A |
13: 113,502,724 (GRCm39) |
G143D |
probably benign |
Het |
Ctdp1 |
A |
G |
18: 80,451,941 (GRCm39) |
S145P |
unknown |
Het |
Dmrt2 |
G |
A |
19: 25,655,031 (GRCm39) |
G210D |
probably damaging |
Het |
Dnajc16 |
A |
G |
4: 141,501,936 (GRCm39) |
F298S |
probably damaging |
Het |
Dock5 |
T |
C |
14: 68,055,012 (GRCm39) |
D618G |
probably damaging |
Het |
Drc3 |
G |
A |
11: 60,261,361 (GRCm39) |
A171T |
probably benign |
Het |
Dspp |
A |
T |
5: 104,325,052 (GRCm39) |
S472C |
unknown |
Het |
Dspp |
G |
T |
5: 104,325,053 (GRCm39) |
S472I |
unknown |
Het |
Ecel1 |
A |
T |
1: 87,081,023 (GRCm39) |
N322K |
probably damaging |
Het |
Eftud2 |
A |
G |
11: 102,745,640 (GRCm39) |
F362L |
probably damaging |
Het |
Egfr |
C |
T |
11: 16,861,607 (GRCm39) |
H1129Y |
probably benign |
Het |
Erich3 |
T |
A |
3: 154,410,480 (GRCm39) |
F112I |
possibly damaging |
Het |
Fam107b |
T |
C |
2: 3,779,580 (GRCm39) |
L261S |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,539,391 (GRCm39) |
S239P |
probably damaging |
Het |
Fbp2 |
C |
A |
13: 63,002,727 (GRCm39) |
Q108H |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,850,147 (GRCm39) |
C1198S |
probably damaging |
Het |
Gask1b |
G |
A |
3: 79,843,912 (GRCm39) |
R377H |
probably damaging |
Het |
Gipr |
C |
T |
7: 18,896,601 (GRCm39) |
R165H |
probably damaging |
Het |
Gje1 |
C |
T |
10: 14,593,082 (GRCm39) |
G45R |
probably null |
Het |
Gpat2 |
C |
G |
2: 127,275,887 (GRCm39) |
T555S |
probably benign |
Het |
Grik3 |
C |
A |
4: 125,584,969 (GRCm39) |
N612K |
probably damaging |
Het |
Iqcb1 |
A |
G |
16: 36,655,952 (GRCm39) |
E113G |
probably benign |
Het |
Kat8 |
A |
G |
7: 127,524,366 (GRCm39) |
I415V |
probably benign |
Het |
Kcnk10 |
A |
T |
12: 98,401,175 (GRCm39) |
M486K |
probably benign |
Het |
Kif21b |
C |
A |
1: 136,072,958 (GRCm39) |
H119N |
probably damaging |
Het |
Leng9 |
T |
C |
7: 4,152,385 (GRCm39) |
D97G |
probably damaging |
Het |
Lrguk |
T |
C |
6: 34,069,802 (GRCm39) |
V559A |
probably damaging |
Het |
Lrp1 |
G |
T |
10: 127,419,805 (GRCm39) |
R935S |
probably damaging |
Het |
Lrrcc1 |
C |
A |
3: 14,627,571 (GRCm39) |
D503E |
probably benign |
Het |
Mybph |
A |
T |
1: 134,126,233 (GRCm39) |
E349V |
probably damaging |
Het |
Myzap |
A |
G |
9: 71,456,037 (GRCm39) |
S328P |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,292,534 (GRCm39) |
L1062P |
probably damaging |
Het |
Nepro |
G |
A |
16: 44,555,160 (GRCm39) |
S412N |
probably null |
Het |
Nudt5 |
T |
C |
2: 5,869,239 (GRCm39) |
V155A |
probably benign |
Het |
Or13a25 |
A |
T |
7: 140,247,502 (GRCm39) |
I94F |
probably damaging |
Het |
Or4k51 |
C |
G |
2: 111,584,679 (GRCm39) |
F28L |
probably benign |
Het |
Or5ae2 |
G |
T |
7: 84,506,328 (GRCm39) |
L250F |
probably damaging |
Het |
Or6ae1 |
A |
G |
7: 139,742,602 (GRCm39) |
L87P |
possibly damaging |
Het |
Osbpl3 |
T |
A |
6: 50,286,356 (GRCm39) |
N623I |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,700,844 (GRCm39) |
H220L |
probably damaging |
Het |
Pde9a |
T |
A |
17: 31,662,135 (GRCm39) |
|
probably null |
Het |
Pex16 |
T |
G |
2: 92,209,544 (GRCm39) |
|
probably null |
Het |
Pnpla7 |
A |
G |
2: 24,870,064 (GRCm39) |
T15A |
probably benign |
Het |
Polq |
G |
T |
16: 36,869,145 (GRCm39) |
|
probably null |
Het |
Ppfia2 |
C |
T |
10: 106,690,818 (GRCm39) |
T553I |
probably benign |
Het |
Rreb1 |
G |
A |
13: 38,100,502 (GRCm39) |
C211Y |
probably benign |
Het |
Rundc3b |
A |
G |
5: 8,578,742 (GRCm39) |
L222P |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,478,718 (GRCm39) |
N4405S |
probably damaging |
Het |
Sardh |
A |
G |
2: 27,081,967 (GRCm39) |
V853A |
probably benign |
Het |
Scfd1 |
T |
C |
12: 51,436,109 (GRCm39) |
V86A |
probably damaging |
Het |
Scube3 |
G |
A |
17: 28,383,097 (GRCm39) |
C425Y |
probably damaging |
Het |
Sfta2 |
T |
C |
17: 35,960,773 (GRCm39) |
|
probably benign |
Het |
Sh3d19 |
T |
C |
3: 86,031,049 (GRCm39) |
Y738H |
probably damaging |
Het |
Shc2 |
T |
C |
10: 79,458,295 (GRCm39) |
R463G |
probably damaging |
Het |
Slc4a10 |
T |
C |
2: 62,087,939 (GRCm39) |
V414A |
possibly damaging |
Het |
Slc9a3 |
G |
T |
13: 74,313,956 (GRCm39) |
D755Y |
probably damaging |
Het |
Snrpb2 |
C |
A |
2: 142,910,237 (GRCm39) |
F98L |
possibly damaging |
Het |
Socs7 |
T |
A |
11: 97,267,829 (GRCm39) |
I320N |
possibly damaging |
Het |
Speer2 |
A |
T |
16: 69,654,988 (GRCm39) |
M159K |
probably benign |
Het |
Sppl2c |
A |
C |
11: 104,078,478 (GRCm39) |
H426P |
probably benign |
Het |
Stxbp5 |
C |
A |
10: 9,638,635 (GRCm39) |
V1055L |
probably benign |
Het |
Synpo |
A |
T |
18: 60,736,684 (GRCm39) |
S421T |
probably damaging |
Het |
Taf6l |
A |
G |
19: 8,759,770 (GRCm39) |
V135A |
possibly damaging |
Het |
Tafa5 |
C |
T |
15: 87,509,637 (GRCm39) |
|
probably benign |
Het |
Trim58 |
G |
A |
11: 58,542,150 (GRCm39) |
G370E |
probably damaging |
Het |
Tshz2 |
T |
A |
2: 169,728,167 (GRCm39) |
I452N |
probably damaging |
Het |
Vit |
T |
C |
17: 78,909,308 (GRCm39) |
S252P |
probably benign |
Het |
Vmn1r173 |
A |
T |
7: 23,402,361 (GRCm39) |
I199F |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,529,336 (GRCm39) |
R255S |
probably benign |
Het |
Vmn2r17 |
A |
G |
5: 109,582,246 (GRCm39) |
N545S |
probably damaging |
Het |
Zbtb44 |
T |
G |
9: 30,964,701 (GRCm39) |
V37G |
probably damaging |
Het |
Zfp865 |
A |
G |
7: 5,034,640 (GRCm39) |
Y875C |
probably damaging |
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 |
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 |
|
R6247:Ttc41
|
UTSW |
10 |
86,612,527 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
PCR Primer
(F):5'- TCCAGTCTGTCCTGCAAGTC -3'
(R):5'- AAAGGAGGCACTTTTAGGATCAGC -3'
Sequencing Primer
(F):5'- CTGACGTGAAGATCGTGGAACTC -3'
(R):5'- GAGGCACTTTTAGGATCAGCTATCAC -3'
|
Posted On |
2016-03-01 |