Incidental Mutation 'R9321:Tcaf1'
| ID |
706192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf1
|
| Ensembl Gene |
ENSMUSG00000036667 |
| Gene Name |
TRPM8 channel-associated factor 1 |
| Synonyms |
3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R9321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42656290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 229
(T229A)
|
| 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 benign
Transcript: ENSMUST00000045054
AA Change: T229A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: T229A
| 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 benign
Transcript: ENSMUST00000045140
AA Change: T229A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: T229A
| 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 benign
Transcript: ENSMUST00000121083
AA Change: T229A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: T229A
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,460,475 (GRCm39) |
S4162G |
probably benign |
Het |
| Acvr2b |
T |
C |
9: 119,257,351 (GRCm39) |
I152T |
probably benign |
Het |
| Adam15 |
T |
A |
3: 89,254,794 (GRCm39) |
|
probably null |
Het |
| Adam34 |
C |
T |
8: 44,105,243 (GRCm39) |
G134D |
probably damaging |
Het |
| Aifm2 |
C |
T |
10: 61,571,410 (GRCm39) |
Q315* |
probably null |
Het |
| Akap10 |
A |
G |
11: 61,791,235 (GRCm39) |
F408S |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,114,252 (GRCm39) |
|
probably null |
Het |
| Btbd2 |
A |
C |
10: 80,483,675 (GRCm39) |
V181G |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,741,425 (GRCm39) |
G1070V |
|
Het |
| Ceacam2 |
G |
T |
7: 25,230,089 (GRCm39) |
D172E |
possibly damaging |
Het |
| Crtc3 |
G |
A |
7: 80,259,650 (GRCm39) |
A203V |
probably benign |
Het |
| Dclre1a |
A |
G |
19: 56,531,100 (GRCm39) |
S749P |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,338,939 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
G |
A |
2: 118,292,798 (GRCm39) |
V1341M |
possibly damaging |
Het |
| Enpp5 |
T |
C |
17: 44,393,689 (GRCm39) |
V295A |
possibly damaging |
Het |
| Gm1110 |
T |
A |
9: 26,831,891 (GRCm39) |
M87L |
probably benign |
Het |
| Gm57858 |
A |
T |
3: 36,073,139 (GRCm39) |
V381E |
probably damaging |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,969 (GRCm39) |
L241P |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,157,320 (GRCm39) |
T145A |
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,524,534 (GRCm39) |
S138P |
probably benign |
Het |
| Itpripl1 |
T |
C |
2: 126,984,000 (GRCm39) |
S41G |
probably benign |
Het |
| Kcnb2 |
G |
A |
1: 15,779,793 (GRCm39) |
D222N |
possibly damaging |
Het |
| Ldb3 |
C |
A |
14: 34,266,099 (GRCm39) |
G499* |
probably null |
Het |
| Lig1 |
T |
C |
7: 13,034,935 (GRCm39) |
F577S |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,780,991 (GRCm39) |
I177V |
probably damaging |
Het |
| Mark4 |
G |
T |
7: 19,170,901 (GRCm39) |
T323K |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,661,113 (GRCm39) |
V301A |
probably benign |
Het |
| Mtx3 |
T |
A |
13: 92,984,097 (GRCm39) |
W125R |
probably damaging |
Het |
| Myo18a |
G |
A |
11: 77,733,370 (GRCm39) |
G1404R |
probably damaging |
Het |
| Myom2 |
C |
T |
8: 15,172,464 (GRCm39) |
P1188S |
possibly damaging |
Het |
| Nars1 |
C |
T |
18: 64,637,950 (GRCm39) |
E335K |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,707,494 (GRCm39) |
V16E |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nme5 |
T |
G |
18: 34,704,597 (GRCm39) |
I83L |
probably benign |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nptx1 |
A |
G |
11: 119,438,378 (GRCm39) |
L13P |
unknown |
Het |
| Or11g27 |
G |
A |
14: 50,771,471 (GRCm39) |
V201I |
probably benign |
Het |
| Or13c25 |
G |
T |
4: 52,911,314 (GRCm39) |
T160N |
probably damaging |
Het |
| Or13m2-ps1 |
T |
A |
6: 42,777,792 (GRCm39) |
V39D |
possibly damaging |
Het |
| Or4k44 |
A |
G |
2: 111,368,434 (GRCm39) |
S67P |
probably damaging |
Het |
| Or5j3 |
A |
T |
2: 86,128,297 (GRCm39) |
I46F |
probably benign |
Het |
| Or6d13 |
T |
C |
6: 116,518,370 (GRCm39) |
Y319H |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,386,023 (GRCm39) |
T916A |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,209,549 (GRCm39) |
N615S |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,434 (GRCm39) |
I248V |
possibly damaging |
Het |
| Rad52 |
T |
C |
6: 119,889,969 (GRCm39) |
Y32H |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,804,654 (GRCm39) |
M720T |
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,661 (GRCm39) |
H58R |
probably benign |
Het |
| Spg7 |
C |
A |
8: 123,803,688 (GRCm39) |
D239E |
probably benign |
Het |
| Tas2r123 |
A |
T |
6: 132,825,095 (GRCm39) |
M331L |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,848,767 (GRCm39) |
L939P |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,577,916 (GRCm39) |
T72A |
probably benign |
Het |
| Tmem179 |
G |
T |
12: 112,477,390 (GRCm39) |
N31K |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,189 (GRCm39) |
S165G |
|
Het |
| Tubgcp6 |
T |
C |
15: 88,992,186 (GRCm39) |
T600A |
probably damaging |
Het |
| Txlna |
T |
A |
4: 129,528,246 (GRCm39) |
E230D |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,089,148 (GRCm39) |
I368F |
probably damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,665,094 (GRCm39) |
M40K |
possibly damaging |
Het |
| Zfp592 |
C |
T |
7: 80,691,226 (GRCm39) |
S1135L |
possibly damaging |
Het |
| Zfp606 |
A |
G |
7: 12,226,610 (GRCm39) |
T244A |
possibly 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 |
|
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 |
|
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'- AAAAGGGGCCGAGTTTACCC -3'
(R):5'- TCAGAGAAACACAGCAAGATTTTCC -3'
Sequencing Primer
(F):5'- CCCACAGTAAATAAAACCTTATGACC -3'
(R):5'- CAGCAAGATTTTCCATAGAATTTCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation