Incidental Mutation 'R9418:Tmcc3'
ID |
712178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmcc3
|
Ensembl Gene |
ENSMUSG00000020023 |
Gene Name |
transmembrane and coiled coil domains 3 |
Synonyms |
A230066D03Rik, LOC380656, C630016B22Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9418 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
94147811-94426818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94415087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 294
(L294P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065060]
[ENSMUST00000117460]
[ENSMUST00000117929]
[ENSMUST00000121471]
[ENSMUST00000132743]
[ENSMUST00000148823]
[ENSMUST00000148910]
|
AlphaFold |
Q8R310 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065060
AA Change: L294P
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000063264 Gene: ENSMUSG00000020023 AA Change: L294P
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
65 |
465 |
1.2e-160 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117460
AA Change: L263P
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112669 Gene: ENSMUSG00000020023 AA Change: L263P
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117929
AA Change: L263P
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112401 Gene: ENSMUSG00000020023 AA Change: L263P
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121471
AA Change: L263P
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113122 Gene: ENSMUSG00000020023 AA Change: L263P
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 |
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 |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
G |
A |
5: 138,645,317 (GRCm39) |
G401R |
probably damaging |
Het |
Adgrf5 |
G |
A |
17: 43,737,864 (GRCm39) |
V233I |
probably benign |
Het |
Ankrd34b |
A |
G |
13: 92,575,232 (GRCm39) |
K155E |
probably damaging |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,871,766 (GRCm39) |
H839Q |
probably benign |
Het |
Ccdc18 |
T |
C |
5: 108,303,669 (GRCm39) |
L251P |
probably damaging |
Het |
Ciita |
G |
T |
16: 10,319,765 (GRCm39) |
E63* |
probably null |
Het |
Cmya5 |
T |
C |
13: 93,226,209 (GRCm39) |
T2960A |
probably benign |
Het |
Cyp2b13 |
A |
T |
7: 25,761,110 (GRCm39) |
I56F |
probably benign |
Het |
Dcaf4 |
A |
T |
12: 83,586,606 (GRCm39) |
Y422F |
probably benign |
Het |
Dhrs7b |
A |
T |
11: 60,746,594 (GRCm39) |
I228F |
probably damaging |
Het |
Drosha |
T |
C |
15: 12,885,167 (GRCm39) |
S853P |
probably benign |
Het |
Dzank1 |
C |
T |
2: 144,355,408 (GRCm39) |
V96M |
probably damaging |
Het |
Fap |
G |
A |
2: 62,385,181 (GRCm39) |
Q65* |
probably null |
Het |
Fbxo47 |
T |
A |
11: 97,747,067 (GRCm39) |
N333I |
possibly damaging |
Het |
Fem1al |
C |
T |
11: 29,774,632 (GRCm39) |
C275Y |
probably damaging |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Gpr171 |
T |
C |
3: 59,004,999 (GRCm39) |
T259A |
possibly damaging |
Het |
Hectd2 |
T |
A |
19: 36,589,574 (GRCm39) |
S595T |
probably benign |
Het |
Hexa |
A |
G |
9: 59,464,592 (GRCm39) |
I161V |
probably benign |
Het |
Hira |
A |
G |
16: 18,770,025 (GRCm39) |
T777A |
probably benign |
Het |
Il2ra |
T |
C |
2: 11,689,203 (GRCm39) |
F244S |
possibly damaging |
Het |
Kcne3 |
A |
G |
7: 99,833,385 (GRCm39) |
M1V |
probably null |
Het |
Kcnj1 |
G |
A |
9: 32,308,203 (GRCm39) |
C209Y |
probably damaging |
Het |
Kcnj2 |
A |
T |
11: 110,963,357 (GRCm39) |
I250F |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,228,741 (GRCm39) |
|
probably benign |
Het |
Leng9 |
T |
C |
7: 4,151,354 (GRCm39) |
T441A |
probably benign |
Het |
Lingo2 |
T |
C |
4: 35,709,035 (GRCm39) |
H315R |
probably benign |
Het |
Lrrc7 |
A |
T |
3: 157,908,023 (GRCm39) |
S266T |
possibly damaging |
Het |
Mab21l4 |
A |
C |
1: 93,087,710 (GRCm39) |
L48V |
probably benign |
Het |
Mib1 |
A |
G |
18: 10,812,064 (GRCm39) |
D987G |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,234,358 (GRCm39) |
V12A |
probably benign |
Het |
Mta1 |
G |
T |
12: 113,094,987 (GRCm39) |
R415L |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,017,700 (GRCm39) |
V479E |
probably benign |
Het |
Mylk3 |
C |
A |
8: 86,091,444 (GRCm39) |
M120I |
possibly damaging |
Het |
Or13c7c |
C |
T |
4: 43,835,879 (GRCm39) |
V204M |
probably benign |
Het |
Or2v2 |
G |
T |
11: 49,004,484 (GRCm39) |
P23Q |
probably benign |
Het |
Otog |
A |
T |
7: 45,938,024 (GRCm39) |
Q1911L |
probably benign |
Het |
Pcdh20 |
C |
T |
14: 88,705,455 (GRCm39) |
C615Y |
probably benign |
Het |
Pde1b |
A |
G |
15: 103,433,464 (GRCm39) |
H294R |
probably damaging |
Het |
Phldb3 |
A |
T |
7: 24,328,354 (GRCm39) |
I633F |
probably damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Pip5k1b |
A |
G |
19: 24,327,581 (GRCm39) |
V425A |
probably benign |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Rab23 |
A |
T |
1: 33,777,424 (GRCm39) |
E179D |
probably benign |
Het |
Slc12a6 |
C |
A |
2: 112,174,555 (GRCm39) |
L522I |
|
Het |
Slc22a19 |
A |
T |
19: 7,660,210 (GRCm39) |
M400K |
possibly damaging |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Spsb2 |
C |
A |
6: 124,786,282 (GRCm39) |
A5D |
probably damaging |
Het |
Tgfb1 |
A |
G |
7: 25,391,952 (GRCm39) |
E169G |
probably damaging |
Het |
Tm4sf5 |
T |
A |
11: 70,401,134 (GRCm39) |
C117S |
probably damaging |
Het |
Ubc |
T |
C |
5: 125,464,466 (GRCm39) |
Y287C |
probably damaging |
Het |
Uroc1 |
G |
T |
6: 90,313,880 (GRCm39) |
V56F |
probably benign |
Het |
Ush1c |
A |
T |
7: 45,872,292 (GRCm39) |
F237I |
probably damaging |
Het |
Xxylt1 |
A |
T |
16: 30,826,624 (GRCm39) |
Y230* |
probably null |
Het |
Zfp467 |
A |
T |
6: 48,415,990 (GRCm39) |
C221S |
probably damaging |
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 |
R3763:Tmcc3
|
UTSW |
10 |
94,415,179 (GRCm39) |
missense |
probably benign |
0.42 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTCCCTGGAAGAGTTCAGGC -3'
(R):5'- TTAGCACTTCACTTGTGAGCAG -3'
Sequencing Primer
(F):5'- AGAGTTCAGGCCCGAAGC -3'
(R):5'- CACTTGTGAGCAGACAGTTTC -3'
|
Posted On |
2022-05-16 |