Incidental Mutation 'R9668:Tcaf3'
| ID |
727919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R9668 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42566636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 818
(W818R)
|
| 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: W818R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: W818R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
G |
T |
11: 116,089,137 (GRCm39) |
Y60* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,314,562 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
G |
A |
7: 66,797,438 (GRCm39) |
V1052I |
possibly damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,368,594 (GRCm39) |
E42V |
possibly damaging |
Het |
| Ano1 |
C |
A |
7: 144,164,579 (GRCm39) |
|
probably null |
Het |
| Atp5pb |
C |
T |
3: 105,863,356 (GRCm39) |
V27I |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,671,418 (GRCm39) |
S494P |
probably damaging |
Het |
| Cd320 |
G |
A |
17: 34,065,113 (GRCm39) |
C82Y |
probably damaging |
Het |
| Cdc16 |
T |
A |
8: 13,817,552 (GRCm39) |
S288T |
possibly damaging |
Het |
| Chrne |
A |
G |
11: 70,507,779 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
G |
A |
9: 79,546,960 (GRCm39) |
Q2291* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,213,649 (GRCm39) |
S794G |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,261,772 (GRCm39) |
D908E |
probably benign |
Het |
| Dpf1 |
C |
T |
7: 29,009,084 (GRCm39) |
Q70* |
probably null |
Het |
| Fam227a |
A |
T |
15: 79,526,444 (GRCm39) |
N129K |
probably benign |
Het |
| Fcho2 |
T |
A |
13: 98,913,965 (GRCm39) |
I211F |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,247,574 (GRCm39) |
D167G |
probably benign |
Het |
| Flt3 |
G |
A |
5: 147,293,694 (GRCm39) |
P461S |
probably benign |
Het |
| Fry |
G |
T |
5: 150,282,318 (GRCm39) |
A314S |
probably damaging |
Het |
| Gm6309 |
A |
G |
5: 146,105,026 (GRCm39) |
S296P |
probably benign |
Het |
| Gmppb |
T |
G |
9: 107,928,362 (GRCm39) |
V291G |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,619,492 (GRCm39) |
S1207R |
probably benign |
Het |
| Iars1 |
C |
T |
13: 49,840,885 (GRCm39) |
P6L |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 943,075 (GRCm39) |
S1519R |
possibly damaging |
Het |
| Kpna2 |
G |
A |
11: 106,881,541 (GRCm39) |
T363I |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,075,982 (GRCm39) |
H1886Q |
|
Het |
| Meak7 |
T |
C |
8: 120,488,514 (GRCm39) |
E436G |
probably damaging |
Het |
| Mettl5 |
C |
T |
2: 69,711,723 (GRCm39) |
D48N |
probably benign |
Het |
| Mfsd4a |
C |
T |
1: 131,969,628 (GRCm39) |
G442S |
probably damaging |
Het |
| Mief2 |
A |
G |
11: 60,622,074 (GRCm39) |
T215A |
probably damaging |
Het |
| Myt1 |
C |
T |
2: 181,452,135 (GRCm39) |
T824I |
probably damaging |
Het |
| Naprt |
C |
A |
15: 75,765,281 (GRCm39) |
V148L |
possibly damaging |
Het |
| Nckap1l |
C |
T |
15: 103,382,277 (GRCm39) |
R491C |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,071,573 (GRCm39) |
M321T |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,610,383 (GRCm39) |
I355N |
possibly damaging |
Het |
| Or10j2 |
G |
A |
1: 173,098,183 (GRCm39) |
G147D |
possibly damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,898 (GRCm39) |
N88Y |
probably benign |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,658 (GRCm39) |
I64T |
probably benign |
Het |
| Or1l4b |
T |
G |
2: 37,036,518 (GRCm39) |
M98R |
probably damaging |
Het |
| Or4a80 |
T |
G |
2: 89,582,636 (GRCm39) |
I179L |
probably benign |
Het |
| Or4k35 |
T |
G |
2: 111,100,287 (GRCm39) |
I142L |
probably benign |
Het |
| Pccb |
T |
C |
9: 100,876,634 (GRCm39) |
D320G |
possibly damaging |
Het |
| Pcdhgb6 |
A |
T |
18: 37,875,561 (GRCm39) |
I90L |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,221,459 (GRCm39) |
S682P |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plagl1 |
A |
G |
10: 13,004,466 (GRCm39) |
Q578R |
unknown |
Het |
| Ppp1r42 |
A |
G |
1: 10,073,563 (GRCm39) |
I9T |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,871,275 (GRCm39) |
I315K |
possibly damaging |
Het |
| Rnf217 |
A |
G |
10: 31,484,402 (GRCm39) |
L260P |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,968,975 (GRCm39) |
H525L |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,244,347 (GRCm39) |
M303K |
probably benign |
Het |
| Shprh |
A |
T |
10: 11,082,076 (GRCm39) |
I1549F |
probably damaging |
Het |
| Slc38a7 |
G |
T |
8: 96,570,772 (GRCm39) |
A244D |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,740 (GRCm39) |
T63K |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,898,468 (GRCm39) |
S962P |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,711,135 (GRCm39) |
I133V |
probably damaging |
Het |
| Tars1 |
T |
A |
15: 11,394,446 (GRCm39) |
K64* |
probably null |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
| Trim72 |
C |
A |
7: 127,609,092 (GRCm39) |
A298E |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,218,062 (GRCm39) |
|
probably null |
Het |
| Zfp707 |
C |
A |
15: 75,847,085 (GRCm39) |
F378L |
possibly damaging |
Het |
| Zfp839 |
G |
A |
12: 110,822,280 (GRCm39) |
A365T |
probably damaging |
Het |
|
| Other mutations in Tcaf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Tcaf3
|
APN |
6 |
42,570,319 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL00931:Tcaf3
|
APN |
6 |
42,574,162 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01391:Tcaf3
|
APN |
6 |
42,570,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01804:Tcaf3
|
APN |
6 |
42,574,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Tcaf3
|
APN |
6 |
42,573,594 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02934:Tcaf3
|
APN |
6 |
42,570,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03258:Tcaf3
|
APN |
6 |
42,566,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
defused
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0116:Tcaf3
|
UTSW |
6 |
42,568,284 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0135:Tcaf3
|
UTSW |
6 |
42,566,692 (GRCm39) |
missense |
probably benign |
|
|
R0357:Tcaf3
|
UTSW |
6 |
42,566,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0526:Tcaf3
|
UTSW |
6 |
42,566,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0592:Tcaf3
|
UTSW |
6 |
42,573,777 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,568,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,568,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Tcaf3
|
UTSW |
6 |
42,568,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Tcaf3
|
UTSW |
6 |
42,570,486 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1912:Tcaf3
|
UTSW |
6 |
42,573,622 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2020:Tcaf3
|
UTSW |
6 |
42,570,658 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2238:Tcaf3
|
UTSW |
6 |
42,570,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2259:Tcaf3
|
UTSW |
6 |
42,568,364 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2436:Tcaf3
|
UTSW |
6 |
42,570,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3005:Tcaf3
|
UTSW |
6 |
42,570,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Tcaf3
|
UTSW |
6 |
42,570,787 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3753:Tcaf3
|
UTSW |
6 |
42,566,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3799:Tcaf3
|
UTSW |
6 |
42,574,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Tcaf3
|
UTSW |
6 |
42,566,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4640:Tcaf3
|
UTSW |
6 |
42,564,513 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4688:Tcaf3
|
UTSW |
6 |
42,570,300 (GRCm39) |
splice site |
probably null |
|
|
R4904:Tcaf3
|
UTSW |
6 |
42,570,931 (GRCm39) |
nonsense |
probably null |
|
|
R5030:Tcaf3
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5031:Tcaf3
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5045:Tcaf3
|
UTSW |
6 |
42,570,618 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5105:Tcaf3
|
UTSW |
6 |
42,568,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5139:Tcaf3
|
UTSW |
6 |
42,573,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5187:Tcaf3
|
UTSW |
6 |
42,573,954 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5196:Tcaf3
|
UTSW |
6 |
42,570,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5213:Tcaf3
|
UTSW |
6 |
42,568,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Tcaf3
|
UTSW |
6 |
42,564,444 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5402:Tcaf3
|
UTSW |
6 |
42,568,860 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5425:Tcaf3
|
UTSW |
6 |
42,573,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Tcaf3
|
UTSW |
6 |
42,574,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Tcaf3
|
UTSW |
6 |
42,564,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5839:Tcaf3
|
UTSW |
6 |
42,570,783 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5865:Tcaf3
|
UTSW |
6 |
42,573,631 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6005:Tcaf3
|
UTSW |
6 |
42,566,905 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6270:Tcaf3
|
UTSW |
6 |
42,570,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6341:Tcaf3
|
UTSW |
6 |
42,574,193 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6344:Tcaf3
|
UTSW |
6 |
42,574,105 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6521:Tcaf3
|
UTSW |
6 |
42,570,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6589:Tcaf3
|
UTSW |
6 |
42,570,995 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6981:Tcaf3
|
UTSW |
6 |
42,574,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Tcaf3
|
UTSW |
6 |
42,570,825 (GRCm39) |
missense |
probably benign |
|
|
R7185:Tcaf3
|
UTSW |
6 |
42,570,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7262:Tcaf3
|
UTSW |
6 |
42,570,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7340:Tcaf3
|
UTSW |
6 |
42,566,848 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7421:Tcaf3
|
UTSW |
6 |
42,573,776 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7690:Tcaf3
|
UTSW |
6 |
42,574,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Tcaf3
|
UTSW |
6 |
42,571,140 (GRCm39) |
splice site |
probably null |
|
|
R7909:Tcaf3
|
UTSW |
6 |
42,568,898 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9419:Tcaf3
|
UTSW |
6 |
42,573,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9440:Tcaf3
|
UTSW |
6 |
42,573,906 (GRCm39) |
nonsense |
probably null |
|
|
R9469:Tcaf3
|
UTSW |
6 |
42,573,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9787:Tcaf3
|
UTSW |
6 |
42,574,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGAGTGTCTGGGCACAGC -3'
(R):5'- AACCATCAGAAGTCTGGATGGAC -3'
Sequencing Primer
(F):5'- GGCACAGCTATGTAATTCTGC -3'
(R):5'- GGACTTTTCCACCTCACACCAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation