Incidental Mutation 'R0526:Tcaf3'
| ID |
48915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
038719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0526 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42584866-42597692 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42589804 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 784
(I784F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
[ENSMUST00000134707]
|
| AlphaFold |
Q6QR59 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069023
AA Change: I784F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: I784F
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
26 |
194 |
9.98e-16 |
PROSPERO |
|
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
234 |
402 |
9.98e-16 |
PROSPERO |
|
low complexity region
|
509 |
518 |
N/A |
INTRINSIC |
|
M60-like
|
533 |
832 |
3.49e-130 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134707
|
| SMART Domains |
Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151898
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,455,224 (GRCm38) |
N230I |
possibly damaging |
Het |
| 4933427D14Rik |
G |
T |
11: 72,169,783 (GRCm38) |
Q687K |
probably damaging |
Het |
| Actrt2 |
A |
G |
4: 154,667,412 (GRCm38) |
L89P |
probably damaging |
Het |
| Adamts1 |
A |
C |
16: 85,802,372 (GRCm38) |
S113R |
probably benign |
Het |
| Agxt2 |
G |
T |
15: 10,373,862 (GRCm38) |
C118F |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,317,292 (GRCm38) |
T49I |
probably benign |
Het |
| Alk |
A |
T |
17: 71,869,753 (GRCm38) |
W1519R |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,559,805 (GRCm38) |
F12Y |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,348,740 (GRCm38) |
C131R |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,427,363 (GRCm38) |
L168P |
probably damaging |
Het |
| Blm |
G |
T |
7: 80,505,893 (GRCm38) |
S346* |
probably null |
Het |
| Ccnt2 |
T |
G |
1: 127,799,445 (GRCm38) |
C199G |
probably damaging |
Het |
| Cd151 |
A |
T |
7: 141,470,591 (GRCm38) |
H219L |
probably damaging |
Het |
| Cd200r2 |
A |
T |
16: 44,915,047 (GRCm38) |
R248S |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 106,555,446 (GRCm38) |
D822G |
possibly damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,069,770 (GRCm38) |
|
probably null |
Het |
| Cluh |
C |
A |
11: 74,665,986 (GRCm38) |
L951I |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,963,271 (GRCm38) |
|
probably null |
Het |
| Col25a1 |
C |
A |
3: 130,476,394 (GRCm38) |
P197Q |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 103,056,426 (GRCm38) |
S636R |
possibly damaging |
Het |
| Ect2l |
C |
A |
10: 18,199,940 (GRCm38) |
C66F |
possibly damaging |
Het |
| Elac2 |
T |
C |
11: 64,999,436 (GRCm38) |
M671T |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,821,748 (GRCm38) |
N143S |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,806,085 (GRCm38) |
V228A |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,505,980 (GRCm38) |
Y1084H |
probably damaging |
Het |
| Fcgr4 |
T |
A |
1: 171,029,191 (GRCm38) |
L209Q |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,296,524 (GRCm38) |
S83N |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,421,493 (GRCm38) |
M664K |
probably benign |
Het |
| Gm38394 |
T |
C |
1: 133,658,734 (GRCm38) |
I288M |
probably damaging |
Het |
| Il27ra |
A |
T |
8: 84,039,499 (GRCm38) |
S219T |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,997,797 (GRCm38) |
V800A |
probably damaging |
Het |
| Lmo7 |
T |
A |
14: 101,900,560 (GRCm38) |
D666E |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,628,295 (GRCm38) |
D520G |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 155,188,297 (GRCm38) |
M545K |
probably benign |
Het |
| Lsm5 |
T |
A |
6: 56,703,325 (GRCm38) |
D44V |
probably damaging |
Het |
| Man1c1 |
G |
T |
4: 134,569,068 (GRCm38) |
Y430* |
probably null |
Het |
| Map4 |
T |
A |
9: 110,037,278 (GRCm38) |
|
probably null |
Het |
| Megf6 |
A |
G |
4: 154,258,941 (GRCm38) |
K561R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,322,398 (GRCm38) |
Y173H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,283,541 (GRCm38) |
S791R |
possibly damaging |
Het |
| Nol11 |
C |
A |
11: 107,184,771 (GRCm38) |
E144* |
probably null |
Het |
| Ntng2 |
C |
T |
2: 29,197,062 (GRCm38) |
R416Q |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,866,517 (GRCm38) |
I43F |
possibly damaging |
Het |
| Olfr1093 |
A |
T |
2: 86,786,347 (GRCm38) |
T206S |
possibly damaging |
Het |
| Olfr1284 |
T |
A |
2: 111,379,492 (GRCm38) |
V164E |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,082,260 (GRCm38) |
I64V |
probably damaging |
Het |
| Prf1 |
G |
A |
10: 61,300,254 (GRCm38) |
R103H |
probably benign |
Het |
| Rest |
A |
G |
5: 77,281,027 (GRCm38) |
D431G |
probably damaging |
Het |
| Serpina10 |
A |
T |
12: 103,616,868 (GRCm38) |
L439Q |
probably damaging |
Het |
| Sgk3 |
T |
G |
1: 9,881,579 (GRCm38) |
V176G |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,022,733 (GRCm38) |
S188P |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,349,948 (GRCm38) |
I336T |
probably damaging |
Het |
| Ssfa2 |
A |
G |
2: 79,657,346 (GRCm38) |
D591G |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,620,039 (GRCm38) |
|
probably null |
Het |
| Syt4 |
T |
C |
18: 31,443,746 (GRCm38) |
E185G |
possibly damaging |
Het |
| Tgfbr3l |
G |
T |
8: 4,249,439 (GRCm38) |
R74L |
possibly damaging |
Het |
| Thoc7 |
A |
G |
14: 13,949,282 (GRCm38) |
M194T |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,951,392 (GRCm38) |
Y989H |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,075,818 (GRCm38) |
V134I |
probably benign |
Het |
| Tnks |
A |
T |
8: 34,853,303 (GRCm38) |
V738E |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,792,876 (GRCm38) |
I342F |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,411,503 (GRCm38) |
V291D |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 111,480,540 (GRCm38) |
|
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,951,992 (GRCm38) |
T1292A |
probably damaging |
Het |
| Yes1 |
T |
A |
5: 32,655,240 (GRCm38) |
C285S |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,213,919 (GRCm38) |
N206S |
probably benign |
Het |
|
| Other mutations in Tcaf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Tcaf3
|
APN |
6 |
42,593,385 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL00931:Tcaf3
|
APN |
6 |
42,597,228 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01391:Tcaf3
|
APN |
6 |
42,593,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01804:Tcaf3
|
APN |
6 |
42,597,129 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02272:Tcaf3
|
APN |
6 |
42,596,660 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02934:Tcaf3
|
APN |
6 |
42,593,898 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03258:Tcaf3
|
APN |
6 |
42,589,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
defused
|
UTSW |
6 |
42,596,933 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0116:Tcaf3
|
UTSW |
6 |
42,591,350 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0135:Tcaf3
|
UTSW |
6 |
42,589,758 (GRCm38) |
missense |
probably benign |
|
|
R0357:Tcaf3
|
UTSW |
6 |
42,589,827 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0592:Tcaf3
|
UTSW |
6 |
42,596,843 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,591,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,591,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,591,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1902:Tcaf3
|
UTSW |
6 |
42,593,552 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1912:Tcaf3
|
UTSW |
6 |
42,596,688 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2020:Tcaf3
|
UTSW |
6 |
42,593,724 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R2238:Tcaf3
|
UTSW |
6 |
42,593,328 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2259:Tcaf3
|
UTSW |
6 |
42,591,430 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R2436:Tcaf3
|
UTSW |
6 |
42,593,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3005:Tcaf3
|
UTSW |
6 |
42,594,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3402:Tcaf3
|
UTSW |
6 |
42,593,853 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3753:Tcaf3
|
UTSW |
6 |
42,589,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3799:Tcaf3
|
UTSW |
6 |
42,597,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4515:Tcaf3
|
UTSW |
6 |
42,589,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4640:Tcaf3
|
UTSW |
6 |
42,587,579 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4688:Tcaf3
|
UTSW |
6 |
42,593,366 (GRCm38) |
splice site |
probably null |
|
|
R4904:Tcaf3
|
UTSW |
6 |
42,593,997 (GRCm38) |
nonsense |
probably null |
|
|
R5030:Tcaf3
|
UTSW |
6 |
42,596,933 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5031:Tcaf3
|
UTSW |
6 |
42,596,933 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5045:Tcaf3
|
UTSW |
6 |
42,593,684 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5105:Tcaf3
|
UTSW |
6 |
42,591,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5139:Tcaf3
|
UTSW |
6 |
42,596,933 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5187:Tcaf3
|
UTSW |
6 |
42,597,020 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R5196:Tcaf3
|
UTSW |
6 |
42,593,715 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5213:Tcaf3
|
UTSW |
6 |
42,591,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5296:Tcaf3
|
UTSW |
6 |
42,587,510 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5402:Tcaf3
|
UTSW |
6 |
42,591,926 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5425:Tcaf3
|
UTSW |
6 |
42,596,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5431:Tcaf3
|
UTSW |
6 |
42,597,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5601:Tcaf3
|
UTSW |
6 |
42,587,528 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5839:Tcaf3
|
UTSW |
6 |
42,593,849 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5865:Tcaf3
|
UTSW |
6 |
42,596,697 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6005:Tcaf3
|
UTSW |
6 |
42,589,971 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6270:Tcaf3
|
UTSW |
6 |
42,593,791 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6341:Tcaf3
|
UTSW |
6 |
42,597,259 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6344:Tcaf3
|
UTSW |
6 |
42,597,171 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6521:Tcaf3
|
UTSW |
6 |
42,593,238 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6589:Tcaf3
|
UTSW |
6 |
42,594,061 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6981:Tcaf3
|
UTSW |
6 |
42,597,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7155:Tcaf3
|
UTSW |
6 |
42,593,891 (GRCm38) |
missense |
probably benign |
|
|
R7185:Tcaf3
|
UTSW |
6 |
42,593,930 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7262:Tcaf3
|
UTSW |
6 |
42,593,801 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7340:Tcaf3
|
UTSW |
6 |
42,589,914 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7421:Tcaf3
|
UTSW |
6 |
42,596,842 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7690:Tcaf3
|
UTSW |
6 |
42,597,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7850:Tcaf3
|
UTSW |
6 |
42,594,206 (GRCm38) |
splice site |
probably null |
|
|
R7909:Tcaf3
|
UTSW |
6 |
42,591,964 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9419:Tcaf3
|
UTSW |
6 |
42,596,782 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9440:Tcaf3
|
UTSW |
6 |
42,596,972 (GRCm38) |
nonsense |
probably null |
|
|
R9469:Tcaf3
|
UTSW |
6 |
42,596,894 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9668:Tcaf3
|
UTSW |
6 |
42,589,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9787:Tcaf3
|
UTSW |
6 |
42,597,090 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGTCTGCTGGTTCCAGTCTC -3'
(R):5'- TCACAGTGAAACGCAGATAGGCATC -3'
Sequencing Primer
(F):5'- CAGTCTCCCTGAATATATACACGG -3'
(R):5'- GTAGAGCCCATGTGAACTTACTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation