Incidental Mutation 'R0724:Tcaf1'
| ID |
63814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcaf1
|
| Ensembl Gene |
ENSMUSG00000036667 |
| Gene Name |
TRPM8 channel-associated factor 1 |
| Synonyms |
3321401G04Rik, A230020K05Rik, 2810407D09Rik, Fam115a |
| MMRRC Submission |
038906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0724 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42644936-42687022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42652301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 727
(A727E)
|
| 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: A727E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: A727E
| 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: A727E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: A727E
| 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: A727E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: A727E
| 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: ENSMUST00000152100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165486
|
| Meta Mutation Damage Score |
0.6901 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,981,573 (GRCm39) |
E136G |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,159,281 (GRCm39) |
S655R |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,676,513 (GRCm39) |
V71E |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,755,986 (GRCm39) |
R1077H |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,976,607 (GRCm39) |
T198A |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,499,755 (GRCm39) |
I109N |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,162,349 (GRCm39) |
I119T |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,498,670 (GRCm39) |
Y504C |
probably damaging |
Het |
| Casp1 |
C |
T |
9: 5,303,077 (GRCm39) |
P177L |
probably benign |
Het |
| Ccdc122 |
C |
A |
14: 77,329,517 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,766,141 (GRCm39) |
S158P |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,776,827 (GRCm39) |
D103E |
possibly damaging |
Het |
| Clstn1 |
A |
C |
4: 149,728,081 (GRCm39) |
D583A |
possibly damaging |
Het |
| Corin |
A |
G |
5: 72,490,138 (GRCm39) |
|
probably benign |
Het |
| Cryba1 |
T |
C |
11: 77,610,283 (GRCm39) |
D144G |
probably damaging |
Het |
| Cwf19l2 |
G |
T |
9: 3,421,377 (GRCm39) |
|
probably null |
Het |
| Dis3l |
T |
C |
9: 64,214,408 (GRCm39) |
T1027A |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,559,213 (GRCm39) |
E653G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,758 (GRCm39) |
I1459V |
probably benign |
Het |
| Dyrk3 |
T |
C |
1: 131,057,877 (GRCm39) |
T64A |
probably benign |
Het |
| Emp2 |
C |
T |
16: 10,102,479 (GRCm39) |
C111Y |
probably benign |
Het |
| Enam |
A |
G |
5: 88,649,853 (GRCm39) |
Y454C |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,193,984 (GRCm39) |
C1328S |
probably benign |
Het |
| Gata3 |
T |
C |
2: 9,879,386 (GRCm39) |
T197A |
probably benign |
Het |
| Gm1043 |
A |
G |
5: 37,344,573 (GRCm39) |
T212A |
probably damaging |
Het |
| H2-Eb1 |
T |
C |
17: 34,534,006 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
T |
C |
11: 57,722,506 (GRCm39) |
H36R |
probably damaging |
Het |
| Hmgcs2 |
C |
A |
3: 98,204,317 (GRCm39) |
Y239* |
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,845,490 (GRCm39) |
Y68C |
probably damaging |
Het |
| Inpp5a |
A |
G |
7: 139,096,579 (GRCm39) |
I143V |
probably benign |
Het |
| Klhdc2 |
C |
A |
12: 69,343,822 (GRCm39) |
F18L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,069,130 (GRCm39) |
Y251C |
probably damaging |
Het |
| Lrch4 |
A |
T |
5: 137,635,570 (GRCm39) |
N315I |
probably damaging |
Het |
| Map3k10 |
A |
C |
7: 27,367,780 (GRCm39) |
V286G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,138,602 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
G |
T |
7: 5,322,221 (GRCm39) |
L809I |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,870,896 (GRCm39) |
|
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,583,374 (GRCm39) |
V175A |
possibly damaging |
Het |
| Paxbp1 |
T |
A |
16: 90,833,424 (GRCm39) |
D270V |
probably damaging |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,819,871 (GRCm39) |
N564S |
possibly damaging |
Het |
| Plcb3 |
G |
A |
19: 6,940,760 (GRCm39) |
R359C |
probably damaging |
Het |
| Plcxd3 |
G |
A |
15: 4,546,350 (GRCm39) |
S118N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,583,144 (GRCm39) |
S664P |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,159,752 (GRCm39) |
I443V |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 54,972,643 (GRCm39) |
|
probably benign |
Het |
| Smim14 |
A |
G |
5: 65,610,682 (GRCm39) |
|
probably benign |
Het |
| Sost |
C |
T |
11: 101,857,744 (GRCm39) |
C19Y |
probably benign |
Het |
| Thoc1 |
T |
C |
18: 9,963,829 (GRCm39) |
L144P |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,860,485 (GRCm39) |
T577S |
possibly damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tshr |
T |
C |
12: 91,505,060 (GRCm39) |
F666S |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,698,205 (GRCm39) |
V192A |
possibly damaging |
Het |
| Zfp697 |
T |
C |
3: 98,335,482 (GRCm39) |
W416R |
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 |
|
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 |
|
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'- CGTAAACACACCACAGGTTGCAC -3'
(R):5'- GGCTACTGGACGCTTTGGAAAAGA -3'
Sequencing Primer
(F):5'- ACGTGGCTTCCGTAGTATG -3'
(R):5'- ttctcccaccccttcctc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation