Incidental Mutation 'R3763:Tmcc3'
| ID |
270600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmcc3
|
| Ensembl Gene |
ENSMUSG00000020023 |
| Gene Name |
transmembrane and coiled coil domains 3 |
| Synonyms |
A230066D03Rik, LOC380656, C630016B22Rik |
| MMRRC Submission |
040873-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
94147811-94426818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94415179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 294
(T294A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065060]
[ENSMUST00000117460]
[ENSMUST00000117929]
[ENSMUST00000121471]
[ENSMUST00000132743]
[ENSMUST00000148823]
[ENSMUST00000148910]
|
| AlphaFold |
Q8R310 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065060
AA Change: T325A
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: T325A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
65 |
465 |
1.2e-160 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117460
AA Change: T294A
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: T294A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117929
AA Change: T294A
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: T294A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121471
AA Change: T294A
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: T294A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132743
|
| SMART Domains |
Protein: ENSMUSP00000119751
Gene: ENSMUSG00000020023
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
47 |
134 |
3.3e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148823
|
| SMART Domains |
Protein: ENSMUSP00000119496
Gene: ENSMUSG00000020023
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
85 |
210 |
3.6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148910
|
| SMART Domains |
Protein: ENSMUSP00000121456
Gene: ENSMUSG00000020023
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
34 |
76 |
1.6e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.1069 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,760,331 (GRCm39) |
E29G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,291,770 (GRCm39) |
|
probably benign |
Het |
| AW146154 |
A |
G |
7: 41,129,794 (GRCm39) |
C441R |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,310,271 (GRCm39) |
V1443A |
possibly damaging |
Het |
| Commd1 |
T |
A |
11: 22,924,102 (GRCm39) |
F292Y |
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,489,106 (GRCm39) |
Y314H |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,802,576 (GRCm39) |
T898I |
probably damaging |
Het |
| Epc1 |
C |
A |
18: 6,440,091 (GRCm39) |
V59L |
possibly damaging |
Het |
| Etv6 |
C |
A |
6: 134,239,975 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
A |
G |
15: 84,937,998 (GRCm39) |
D293G |
possibly damaging |
Het |
| Gzmn |
A |
C |
14: 56,404,361 (GRCm39) |
S159A |
probably benign |
Het |
| Insc |
A |
G |
7: 114,390,207 (GRCm39) |
D26G |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,626,072 (GRCm39) |
R756G |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,582,318 (GRCm39) |
L499P |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,923,927 (GRCm39) |
L291M |
probably damaging |
Het |
| Nefm |
G |
T |
14: 68,361,797 (GRCm39) |
R156S |
probably damaging |
Het |
| Nppc |
T |
A |
1: 86,597,580 (GRCm39) |
N63Y |
probably damaging |
Het |
| Or5p79 |
A |
T |
7: 108,221,924 (GRCm39) |
I302F |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,314 (GRCm39) |
S278P |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,474,936 (GRCm39) |
V24A |
probably benign |
Het |
| Pcm1 |
C |
A |
8: 41,733,114 (GRCm39) |
Q787K |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,823,334 (GRCm39) |
K170E |
possibly damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,019,370 (GRCm39) |
S325P |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,597,049 (GRCm39) |
|
probably null |
Het |
| Stk-ps2 |
G |
A |
1: 46,069,081 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
T |
G |
4: 58,084,833 (GRCm39) |
D1835A |
possibly damaging |
Het |
| Tsen54 |
A |
G |
11: 115,711,237 (GRCm39) |
N62S |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r18 |
G |
A |
5: 151,508,644 (GRCm39) |
A160V |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,114 (GRCm39) |
V661A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,404 (GRCm39) |
Y2854C |
probably damaging |
Het |
| Zfp563 |
G |
T |
17: 33,323,902 (GRCm39) |
E166* |
probably null |
Het |
| Zfp687 |
T |
A |
3: 94,919,391 (GRCm39) |
N127I |
probably damaging |
Het |
| Zfp958 |
T |
A |
8: 4,676,226 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmcc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Tmcc3
|
APN |
10 |
94,418,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Tmcc3
|
APN |
10 |
94,422,617 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02376:Tmcc3
|
APN |
10 |
94,414,429 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03073:Tmcc3
|
APN |
10 |
94,414,813 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03348:Tmcc3
|
APN |
10 |
94,414,942 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0131:Tmcc3
|
UTSW |
10 |
94,381,437 (GRCm39) |
splice site |
probably benign |
|
|
R0360:Tmcc3
|
UTSW |
10 |
94,414,407 (GRCm39) |
missense |
probably benign |
|
|
R0840:Tmcc3
|
UTSW |
10 |
94,414,633 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1994:Tmcc3
|
UTSW |
10 |
94,414,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1995:Tmcc3
|
UTSW |
10 |
94,414,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2184:Tmcc3
|
UTSW |
10 |
94,418,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Tmcc3
|
UTSW |
10 |
94,414,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Tmcc3
|
UTSW |
10 |
94,414,777 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2274:Tmcc3
|
UTSW |
10 |
94,414,777 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4690:Tmcc3
|
UTSW |
10 |
94,381,419 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4763:Tmcc3
|
UTSW |
10 |
94,415,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Tmcc3
|
UTSW |
10 |
94,414,646 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5385:Tmcc3
|
UTSW |
10 |
94,415,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:Tmcc3
|
UTSW |
10 |
94,418,249 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6636:Tmcc3
|
UTSW |
10 |
94,414,286 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6898:Tmcc3
|
UTSW |
10 |
94,387,034 (GRCm39) |
splice site |
probably null |
|
|
R7128:Tmcc3
|
UTSW |
10 |
94,266,496 (GRCm39) |
start gained |
probably benign |
|
|
R7313:Tmcc3
|
UTSW |
10 |
94,266,434 (GRCm39) |
start gained |
probably benign |
|
|
R7320:Tmcc3
|
UTSW |
10 |
94,414,357 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7456:Tmcc3
|
UTSW |
10 |
94,418,174 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7874:Tmcc3
|
UTSW |
10 |
94,386,889 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7876:Tmcc3
|
UTSW |
10 |
94,414,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8098:Tmcc3
|
UTSW |
10 |
94,415,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8274:Tmcc3
|
UTSW |
10 |
94,422,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Tmcc3
|
UTSW |
10 |
94,418,170 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8939:Tmcc3
|
UTSW |
10 |
94,381,483 (GRCm39) |
intron |
probably benign |
|
|
R9418:Tmcc3
|
UTSW |
10 |
94,415,087 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCTAGTGGCACATCCGG -3'
(R):5'- GAGACCCAATGCATATAATGTCTTCC -3'
Sequencing Primer
(F):5'- TAGTGGCACATCCGGCTCAG -3'
(R):5'- TGGAAATTATGGAACTTAGGATCATG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation