Incidental Mutation 'R8989:Tcaf1'
| ID |
684288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf1
|
| Ensembl Gene |
ENSMUSG00000036667 |
| Gene Name |
TRPM8 channel-associated factor 1 |
| Synonyms |
3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a |
| MMRRC Submission |
068821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R8989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42663707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 58
(R58C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046137
(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: R58C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: R58C
| 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: R58C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: R58C
| 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: R58C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: R58C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,760,724 (GRCm39) |
I1260M |
probably benign |
Het |
| A1cf |
T |
A |
19: 31,904,556 (GRCm39) |
F273Y |
possibly damaging |
Het |
| A3galt2 |
T |
C |
4: 128,655,231 (GRCm39) |
W45R |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,588,948 (GRCm39) |
E460G |
probably damaging |
Het |
| Ago1 |
T |
A |
4: 126,357,583 (GRCm39) |
T31S |
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,298,191 (GRCm39) |
T110S |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 52,927,654 (GRCm39) |
F188S |
probably damaging |
Het |
| Asic2 |
G |
A |
11: 81,043,180 (GRCm39) |
P38S |
probably benign |
Het |
| Astn2 |
A |
T |
4: 65,499,890 (GRCm39) |
C1000S |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,136,269 (GRCm39) |
C1132* |
probably null |
Het |
| Atp7b |
A |
T |
8: 22,510,911 (GRCm39) |
S527T |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,979,025 (GRCm39) |
T763I |
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,954,783 (GRCm39) |
L118P |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,696,250 (GRCm39) |
E589G |
unknown |
Het |
| Col6a2 |
T |
C |
10: 76,440,015 (GRCm39) |
D630G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,383,458 (GRCm39) |
T447I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,912,059 (GRCm39) |
L1227S |
probably damaging |
Het |
| Elac1 |
C |
A |
18: 73,880,310 (GRCm39) |
E29* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,962,196 (GRCm39) |
Q269L |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fancc |
G |
T |
13: 63,548,090 (GRCm39) |
L70M |
possibly damaging |
Het |
| Fgd6 |
T |
A |
10: 93,959,425 (GRCm39) |
M1041K |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,663,446 (GRCm39) |
V1014A |
possibly damaging |
Het |
| Galnt1 |
C |
T |
18: 24,402,567 (GRCm39) |
T308I |
possibly damaging |
Het |
| Garre1 |
T |
C |
7: 33,956,869 (GRCm39) |
Q332R |
probably damaging |
Het |
| Gpr63 |
T |
A |
4: 25,007,357 (GRCm39) |
V27D |
possibly damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,536,822 (GRCm39) |
V78A |
probably damaging |
Het |
| Hexd |
T |
A |
11: 121,109,136 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,668,960 (GRCm39) |
T479A |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,544 (GRCm39) |
D711G |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,912 (GRCm39) |
F61Y |
probably damaging |
Het |
| Insrr |
T |
A |
3: 87,722,664 (GRCm39) |
N1295K |
probably damaging |
Het |
| Kif5b |
T |
A |
18: 6,209,021 (GRCm39) |
R914W |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,708,660 (GRCm39) |
T113A |
probably benign |
Het |
| Mmp21 |
T |
C |
7: 133,276,746 (GRCm39) |
D419G |
probably damaging |
Het |
| Naf1 |
A |
G |
8: 67,313,628 (GRCm39) |
T204A |
possibly damaging |
Het |
| Nsmce4a |
T |
C |
7: 130,141,587 (GRCm39) |
T201A |
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,548,208 (GRCm39) |
N980K |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,268,464 (GRCm39) |
K352E |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,346 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,542 (GRCm39) |
F257L |
probably benign |
Het |
| Or2d3c |
T |
A |
7: 106,526,366 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,476 (GRCm39) |
T424A |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
| Pramel28 |
C |
A |
4: 143,691,770 (GRCm39) |
A318S |
probably benign |
Het |
| Psma8 |
T |
A |
18: 14,890,404 (GRCm39) |
D181E |
probably benign |
Het |
| Rhpn2 |
C |
A |
7: 35,053,446 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
G |
T |
13: 34,022,967 (GRCm39) |
H139N |
possibly damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,533,642 (GRCm39) |
I394F |
probably damaging |
Het |
| Spmip5 |
T |
C |
19: 58,776,153 (GRCm39) |
E100G |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Taok3 |
T |
C |
5: 117,379,227 (GRCm39) |
S421P |
probably benign |
Het |
| Tas2r143 |
T |
G |
6: 42,377,828 (GRCm39) |
D219E |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,383 (GRCm39) |
Y2401* |
probably null |
Het |
| Tut1 |
T |
C |
19: 8,937,116 (GRCm39) |
V200A |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,509,467 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
T |
G |
7: 5,493,473 (GRCm39) |
I158L |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,134 (GRCm39) |
H19L |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,828,475 (GRCm39) |
M795T |
probably benign |
Het |
| Zc3h12a |
C |
A |
4: 125,014,743 (GRCm39) |
R247L |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
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 |
|
R3433:Tcaf1
|
UTSW |
6 |
42,663,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- ACTGGACTAGCTTATCTGTCATGG -3'
(R):5'- AACCATGGCAACTCCCTCTG -3'
Sequencing Primer
(F):5'- CCCAGGGAGTCATTGACTTCTG -3'
(R):5'- CCTCTGCTGCCTTTGAGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation