Incidental Mutation 'R5296:Tcaf3'
| ID |
405406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf3
|
| Ensembl Gene |
ENSMUSG00000018656 |
| Gene Name |
TRPM8 channel-associated factor 3 |
| Synonyms |
Eapa2, Fam115e |
| MMRRC Submission |
042879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R5296 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42564147-42574306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42564444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 906
(T906K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069023]
|
| AlphaFold |
Q6QR59 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069023
AA Change: T906K
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: T906K
| 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 |
noncoding transcript
Transcript: ENSMUST00000151898
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobr |
A |
C |
7: 126,187,196 (GRCm39) |
D89A |
probably damaging |
Het |
| Bhlhe41 |
C |
T |
6: 145,808,694 (GRCm39) |
|
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,023,523 (GRCm39) |
V674M |
probably benign |
Het |
| Cavin2 |
T |
C |
1: 51,329,029 (GRCm39) |
|
probably null |
Het |
| Cd300lb |
T |
C |
11: 114,815,763 (GRCm39) |
S106G |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,121 (GRCm39) |
V132A |
probably benign |
Het |
| Ddi2 |
G |
T |
4: 141,412,076 (GRCm39) |
Q279K |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,847,151 (GRCm39) |
V4304A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Epsti1 |
T |
A |
14: 78,142,090 (GRCm39) |
H55Q |
probably benign |
Het |
| Flad1 |
T |
C |
3: 89,318,503 (GRCm39) |
T17A |
probably damaging |
Het |
| Fzd2 |
C |
T |
11: 102,496,981 (GRCm39) |
T475M |
probably damaging |
Het |
| Gemin5 |
C |
A |
11: 58,020,887 (GRCm39) |
W1099L |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,964 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
A |
G |
2: 180,897,779 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
| Gvin-ps3 |
A |
T |
7: 105,681,055 (GRCm39) |
|
noncoding transcript |
Het |
| Hltf |
T |
C |
3: 20,162,276 (GRCm39) |
S825P |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,820 (GRCm39) |
Q902L |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,537,353 (GRCm39) |
P1037L |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lama5 |
A |
C |
2: 179,835,594 (GRCm39) |
L1253R |
probably damaging |
Het |
| Lancl2 |
T |
G |
6: 57,701,567 (GRCm39) |
S230A |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,292,549 (GRCm39) |
M134V |
probably damaging |
Het |
| Lrrc23 |
C |
A |
6: 124,751,445 (GRCm39) |
A205S |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,590,961 (GRCm39) |
I234N |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,124,061 (GRCm39) |
S386P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,082,060 (GRCm39) |
F313V |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,786,032 (GRCm39) |
Q643L |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,555,745 (GRCm39) |
S2G |
unknown |
Het |
| Olfr908 |
T |
C |
9: 38,427,412 (GRCm39) |
F28S |
probably damaging |
Het |
| Or10z1 |
G |
T |
1: 174,078,322 (GRCm39) |
T57K |
possibly damaging |
Het |
| Or2n1d |
C |
T |
17: 38,646,347 (GRCm39) |
Q100* |
probably null |
Het |
| Or4x6 |
A |
T |
2: 89,949,043 (GRCm39) |
W300R |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,048 (GRCm39) |
V2245A |
probably damaging |
Het |
| Pkdrej |
G |
A |
15: 85,701,319 (GRCm39) |
T1539I |
possibly damaging |
Het |
| Plch2 |
G |
T |
4: 155,074,456 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,434,609 (GRCm39) |
R34H |
probably damaging |
Het |
| Rgs12 |
T |
C |
5: 35,178,448 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,890 (GRCm39) |
I338T |
probably damaging |
Het |
| Sapcd1 |
T |
A |
17: 35,245,707 (GRCm39) |
Q104L |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,836,066 (GRCm39) |
E575G |
probably damaging |
Het |
| Sema6b |
T |
A |
17: 56,434,091 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
T |
C |
11: 70,537,011 (GRCm39) |
N15D |
probably damaging |
Het |
| Slc26a6 |
C |
T |
9: 108,737,845 (GRCm39) |
T526M |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
| Traf2 |
A |
G |
2: 25,410,452 (GRCm39) |
L399P |
probably damaging |
Het |
| Troap |
T |
A |
15: 98,976,698 (GRCm39) |
V274D |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,277,099 (GRCm39) |
T3406M |
probably damaging |
Het |
| Uts2 |
G |
T |
4: 151,083,508 (GRCm39) |
A40S |
possibly damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,603 (GRCm39) |
I251F |
possibly damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,786,230 (GRCm39) |
S592P |
probably damaging |
Het |
| Vps13b |
T |
G |
15: 35,876,559 (GRCm39) |
W2797G |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,981 (GRCm39) |
M51K |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,437,955 (GRCm39) |
|
probably benign |
Het |
| Zfp882 |
T |
A |
8: 72,668,204 (GRCm39) |
F344I |
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 |
|
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 |
|
R9668:Tcaf3
|
UTSW |
6 |
42,566,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9787:Tcaf3
|
UTSW |
6 |
42,574,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAAATTTGAAAGCTGCTGTG -3'
(R):5'- TCATCCAGGTCTTTGCTGAC -3'
Sequencing Primer
(F):5'- AGCTGCTGTGTAATTTAATCTCTACC -3'
(R):5'- AGGTCTTTGCTGACTACCGAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation