Incidental Mutation 'R0317:Tmco1'
| ID |
25427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmco1
|
| Ensembl Gene |
ENSMUSG00000052428 |
| Gene Name |
transmembrane and coiled-coil domains 1 |
| Synonyms |
1190006A08Rik, ESTM39, 4930403O06Rik |
| MMRRC Submission |
038527-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.465)
|
| Stock # |
R0317 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
167136239-167161547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 167153462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 114
(V114A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097473]
[ENSMUST00000195015]
|
| AlphaFold |
Q921L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097473
AA Change: V114A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095081
Gene: ENSMUSG00000052428
AA Change: V114A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF106
|
3 |
166 |
6.4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193101
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193446
AA Change: V125A
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195015
AA Change: V114A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142042
Gene: ENSMUSG00000052428
AA Change: V114A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF106
|
3 |
166 |
2.7e-51 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, postnatal growth retardation, delayed osteogenesis, craniofacial anomalies, enlarged brain ventricles, impaired coordination and spatial recognition memory, abnormal calcium ion homeostasis, and decreased survivor rate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,243,459 (GRCm39) |
V1774A |
probably damaging |
Het |
| Adam34 |
G |
A |
8: 44,105,288 (GRCm39) |
P119L |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,113,429 (GRCm39) |
|
probably null |
Het |
| Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,122,697 (GRCm39) |
|
probably null |
Het |
| Cab39 |
A |
G |
1: 85,776,881 (GRCm39) |
E322G |
probably damaging |
Het |
| Cad |
C |
A |
5: 31,229,665 (GRCm39) |
P1382Q |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,864,243 (GRCm39) |
|
probably null |
Het |
| Cela2a |
A |
T |
4: 141,549,011 (GRCm39) |
|
probably null |
Het |
| Cert1 |
C |
T |
13: 96,770,629 (GRCm39) |
R487* |
probably null |
Het |
| Ces1e |
A |
C |
8: 93,950,667 (GRCm39) |
I38S |
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,990,019 (GRCm39) |
F364I |
probably benign |
Het |
| Chgb |
A |
G |
2: 132,635,731 (GRCm39) |
T558A |
probably benign |
Het |
| Cnpy4 |
C |
T |
5: 138,191,074 (GRCm39) |
Q217* |
probably null |
Het |
| Crlf1 |
A |
G |
8: 70,951,249 (GRCm39) |
T43A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,173,816 (GRCm39) |
M707K |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,513,193 (GRCm39) |
S123N |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,394,933 (GRCm39) |
F304S |
probably damaging |
Het |
| Gadd45gip1 |
G |
A |
8: 85,560,745 (GRCm39) |
R120H |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,242,459 (GRCm39) |
T96A |
probably benign |
Het |
| Ggn |
T |
A |
7: 28,870,515 (GRCm39) |
M1K |
probably null |
Het |
| Gm5239 |
A |
G |
18: 35,669,969 (GRCm39) |
T112A |
probably benign |
Het |
| Insyn2b |
C |
A |
11: 34,352,826 (GRCm39) |
D289E |
possibly damaging |
Het |
| Kifbp |
A |
T |
10: 62,413,861 (GRCm39) |
|
probably null |
Het |
| Lrrc15 |
A |
T |
16: 30,092,561 (GRCm39) |
H259Q |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,876,045 (GRCm39) |
Y236C |
probably damaging |
Het |
| Med29 |
T |
C |
7: 28,086,284 (GRCm39) |
T175A |
possibly damaging |
Het |
| Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,108,338 (GRCm39) |
L1308P |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,636,388 (GRCm39) |
|
probably null |
Het |
| Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
| Pgm5 |
A |
G |
19: 24,801,763 (GRCm39) |
I155T |
possibly damaging |
Het |
| Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
| Phactr4 |
T |
A |
4: 132,114,241 (GRCm39) |
K51I |
probably damaging |
Het |
| Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
| Rab11a |
A |
G |
9: 64,632,835 (GRCm39) |
S24P |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,666,799 (GRCm39) |
Q160R |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,813,772 (GRCm39) |
D339G |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,453,395 (GRCm39) |
|
probably null |
Het |
| Scarb1 |
A |
G |
5: 125,366,756 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,837,182 (GRCm39) |
V85M |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,335,584 (GRCm39) |
I291V |
possibly damaging |
Het |
| Slco3a1 |
A |
C |
7: 74,154,174 (GRCm39) |
Y104D |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,889,904 (GRCm39) |
D13E |
probably damaging |
Het |
| Tlr1 |
G |
T |
5: 65,083,310 (GRCm39) |
C422* |
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,951,856 (GRCm39) |
T948A |
probably benign |
Het |
| Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
| Ufsp2 |
G |
A |
8: 46,445,270 (GRCm39) |
|
probably null |
Het |
| Veph1 |
T |
C |
3: 66,079,396 (GRCm39) |
D373G |
probably benign |
Het |
| Vmn1r206 |
A |
G |
13: 22,805,130 (GRCm39) |
S26P |
possibly damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
| Wnk4 |
T |
C |
11: 101,159,630 (GRCm39) |
S612P |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,036,527 (GRCm39) |
K130E |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,957,602 (GRCm39) |
C628Y |
possibly damaging |
Het |
|
| Other mutations in Tmco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Tmco1
|
APN |
1 |
167,143,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02619:Tmco1
|
APN |
1 |
167,153,597 (GRCm39) |
splice site |
probably benign |
|
|
IGL03093:Tmco1
|
APN |
1 |
167,143,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Tmco1
|
UTSW |
1 |
167,153,506 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7144:Tmco1
|
UTSW |
1 |
167,136,022 (GRCm39) |
start gained |
probably benign |
|
|
R7540:Tmco1
|
UTSW |
1 |
167,153,572 (GRCm39) |
missense |
|
|
|
R7851:Tmco1
|
UTSW |
1 |
167,136,255 (GRCm39) |
start gained |
probably benign |
|
|
R8436:Tmco1
|
UTSW |
1 |
167,136,254 (GRCm39) |
missense |
|
|
|
R8890:Tmco1
|
UTSW |
1 |
167,143,814 (GRCm39) |
missense |
|
|
|
R9005:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9006:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9007:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9018:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9030:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9058:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9060:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9061:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9103:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9113:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9175:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9226:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9227:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9228:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9229:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9230:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9233:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9235:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9236:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9254:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9255:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9256:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9257:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9282:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9330:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9331:Tmco1
|
UTSW |
1 |
167,136,132 (GRCm39) |
start gained |
probably benign |
|
|
R9408:Tmco1
|
UTSW |
1 |
167,141,700 (GRCm39) |
missense |
|
|
|
R9480:Tmco1
|
UTSW |
1 |
167,157,757 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTACCAGAAGCATGGAGAGGC -3'
(R):5'- GCAGAGCTAGTGTGATCTAGCAGTG -3'
Sequencing Primer
(F):5'- CATGGAGAGGCACTTGTTTCAG -3'
(R):5'- TGTGATCTAGCAGTGGCAGAAAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation