Incidental Mutation 'R3433:Tcaf1'
| ID |
266285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf1
|
| Ensembl Gene |
ENSMUSG00000036667 |
| Gene Name |
TRPM8 channel-associated factor 1 |
| Synonyms |
3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a |
| MMRRC Submission |
040651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R3433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42663508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 124
(V124A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045054]
[ENSMUST00000045140]
[ENSMUST00000121083]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045054
AA Change: V124A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: V124A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
14 |
197 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
222 |
406 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
463 |
474 |
N/A |
INTRINSIC |
|
M60-like
|
542 |
841 |
1.94e-128 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045140
AA Change: V124A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: V124A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
14 |
197 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
222 |
406 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
463 |
474 |
N/A |
INTRINSIC |
|
M60-like
|
542 |
841 |
1.94e-128 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121083
AA Change: V124A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: V124A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
14 |
197 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
222 |
406 |
6.95e-30 |
PROSPERO |
|
low complexity region
|
463 |
474 |
N/A |
INTRINSIC |
|
M60-like
|
542 |
841 |
1.94e-128 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151021
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165486
|
| Meta Mutation Damage Score |
0.2670 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,893,455 (GRCm39) |
W1302R |
probably damaging |
Het |
| Abcf1 |
A |
G |
17: 36,269,109 (GRCm39) |
Y689H |
probably benign |
Het |
| Adamtsl5 |
T |
C |
10: 80,178,725 (GRCm39) |
T218A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,987,358 (GRCm39) |
V2881L |
probably benign |
Het |
| Atp6v1b1 |
C |
A |
6: 83,720,074 (GRCm39) |
T3K |
possibly damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,372,697 (GRCm39) |
R1112S |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,745,151 (GRCm39) |
D1331G |
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,400,643 (GRCm39) |
F696S |
possibly damaging |
Het |
| Cd33 |
T |
C |
7: 43,179,331 (GRCm39) |
T273A |
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,392,146 (GRCm39) |
C562Y |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 67,967,963 (GRCm39) |
R816G |
probably benign |
Het |
| Cnot11 |
G |
A |
1: 39,584,268 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
G |
10: 76,932,102 (GRCm39) |
L329P |
unknown |
Het |
| Dnah9 |
T |
C |
11: 65,965,938 (GRCm39) |
M1693V |
possibly damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,454,613 (GRCm39) |
I701T |
probably damaging |
Het |
| Figla |
G |
T |
6: 85,994,411 (GRCm39) |
R62L |
probably damaging |
Het |
| Gca |
T |
G |
2: 62,520,318 (GRCm39) |
S159R |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm10845 |
C |
T |
14: 80,100,851 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5114 |
T |
C |
7: 39,058,621 (GRCm39) |
K333E |
probably benign |
Het |
| Ift140 |
T |
C |
17: 25,255,282 (GRCm39) |
I466T |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,365 (GRCm39) |
K653E |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,426,742 (GRCm39) |
|
probably null |
Het |
| Kcnh7 |
T |
C |
2: 62,552,261 (GRCm39) |
D910G |
probably benign |
Het |
| Leng8 |
C |
A |
7: 4,145,131 (GRCm39) |
T177K |
probably benign |
Het |
| Lrrtm2 |
A |
C |
18: 35,346,950 (GRCm39) |
S117R |
probably damaging |
Het |
| Megf8 |
G |
T |
7: 25,059,549 (GRCm39) |
A2285S |
probably benign |
Het |
| Meiob |
T |
C |
17: 25,035,571 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
G |
T |
11: 77,708,870 (GRCm39) |
|
probably null |
Het |
| Nars1 |
A |
T |
18: 64,642,374 (GRCm39) |
M156K |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,137,823 (GRCm39) |
S499P |
possibly damaging |
Het |
| Or2a57 |
A |
T |
6: 43,212,607 (GRCm39) |
I22F |
probably damaging |
Het |
| Or2r11 |
G |
A |
6: 42,437,888 (GRCm39) |
H22Y |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,497,577 (GRCm39) |
I218V |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,331 (GRCm39) |
S1715A |
probably benign |
Het |
| Ptprd |
C |
A |
4: 76,004,248 (GRCm39) |
|
probably null |
Het |
| Ros1 |
A |
G |
10: 51,967,204 (GRCm39) |
Y1668H |
probably benign |
Het |
| Rrbp1 |
A |
G |
2: 143,794,200 (GRCm39) |
|
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,702,444 (GRCm39) |
Y376C |
probably damaging |
Het |
| Seh1l |
A |
C |
18: 67,926,222 (GRCm39) |
K358T |
probably benign |
Het |
| Sema3e |
A |
T |
5: 14,302,728 (GRCm39) |
Y751F |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Spred2 |
G |
T |
11: 19,948,277 (GRCm39) |
E91* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,452,885 (GRCm39) |
|
probably null |
Het |
| Tnks1bp1 |
T |
C |
2: 84,901,360 (GRCm39) |
|
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,906,052 (GRCm39) |
T493A |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,490,855 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Vgf |
T |
C |
5: 137,059,873 (GRCm39) |
F12L |
probably benign |
Het |
| Zfp13 |
G |
A |
17: 23,795,602 (GRCm39) |
T323I |
probably damaging |
Het |
|
| Other mutations in Tcaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Tcaf1
|
APN |
6 |
42,663,556 (GRCm39) |
missense |
probably benign |
|
|
IGL02415:Tcaf1
|
APN |
6 |
42,663,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02504:Tcaf1
|
APN |
6 |
42,656,213 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02960:Tcaf1
|
APN |
6 |
42,663,393 (GRCm39) |
missense |
probably benign |
|
|
IGL03022:Tcaf1
|
APN |
6 |
42,655,060 (GRCm39) |
nonsense |
probably null |
|
|
PIT4696001:Tcaf1
|
UTSW |
6 |
42,655,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0103:Tcaf1
|
UTSW |
6 |
42,663,324 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0103:Tcaf1
|
UTSW |
6 |
42,663,324 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0586:Tcaf1
|
UTSW |
6 |
42,650,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0717:Tcaf1
|
UTSW |
6 |
42,655,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0724:Tcaf1
|
UTSW |
6 |
42,652,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1166:Tcaf1
|
UTSW |
6 |
42,655,612 (GRCm39) |
missense |
probably benign |
|
|
R1472:Tcaf1
|
UTSW |
6 |
42,663,382 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1538:Tcaf1
|
UTSW |
6 |
42,655,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Tcaf1
|
UTSW |
6 |
42,652,272 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1776:Tcaf1
|
UTSW |
6 |
42,655,389 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2136:Tcaf1
|
UTSW |
6 |
42,650,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3951:Tcaf1
|
UTSW |
6 |
42,655,993 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4472:Tcaf1
|
UTSW |
6 |
42,656,248 (GRCm39) |
missense |
probably benign |
|
|
R4740:Tcaf1
|
UTSW |
6 |
42,663,809 (GRCm39) |
missense |
probably benign |
|
|
R4915:Tcaf1
|
UTSW |
6 |
42,652,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Tcaf1
|
UTSW |
6 |
42,653,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5340:Tcaf1
|
UTSW |
6 |
42,655,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Tcaf1
|
UTSW |
6 |
42,663,476 (GRCm39) |
missense |
probably benign |
|
|
R6196:Tcaf1
|
UTSW |
6 |
42,653,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6772:Tcaf1
|
UTSW |
6 |
42,652,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7066:Tcaf1
|
UTSW |
6 |
42,656,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Tcaf1
|
UTSW |
6 |
42,663,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Tcaf1
|
UTSW |
6 |
42,651,973 (GRCm39) |
splice site |
probably null |
|
|
R7529:Tcaf1
|
UTSW |
6 |
42,652,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7554:Tcaf1
|
UTSW |
6 |
42,654,388 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7813:Tcaf1
|
UTSW |
6 |
42,650,363 (GRCm39) |
nonsense |
probably null |
|
|
R8191:Tcaf1
|
UTSW |
6 |
42,652,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Tcaf1
|
UTSW |
6 |
42,652,236 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8532:Tcaf1
|
UTSW |
6 |
42,655,065 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8784:Tcaf1
|
UTSW |
6 |
42,656,221 (GRCm39) |
missense |
probably benign |
|
|
R8801:Tcaf1
|
UTSW |
6 |
42,663,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Tcaf1
|
UTSW |
6 |
42,663,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8989:Tcaf1
|
UTSW |
6 |
42,663,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Tcaf1
|
UTSW |
6 |
42,654,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9260:Tcaf1
|
UTSW |
6 |
42,663,554 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9321:Tcaf1
|
UTSW |
6 |
42,656,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9539:Tcaf1
|
UTSW |
6 |
42,655,683 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9673:Tcaf1
|
UTSW |
6 |
42,663,808 (GRCm39) |
missense |
probably benign |
|
|
RF013:Tcaf1
|
UTSW |
6 |
42,656,107 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Tcaf1
|
UTSW |
6 |
42,650,411 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCTTCTTGGAGACTTTAAAG -3'
(R):5'- AGGACTTCTTGCTGGAAAGC -3'
Sequencing Primer
(F):5'- GAGACTTTAAAGAAACTTGTGTCTGC -3'
(R):5'- TGGAAAGCCAGCTCTTTGTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation