Incidental Mutation 'R9061:Tmco1'
| ID |
688958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmco1
|
| Ensembl Gene |
ENSMUSG00000052428 |
| Gene Name |
transmembrane and coiled-coil domains 1 |
| Synonyms |
1190006A08Rik, ESTM39, 4930403O06Rik |
| MMRRC Submission |
068887-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.465)
|
| Stock # |
R9061 (G1)
|
| Quality Score |
135.008 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
167136239-167161547 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 167136132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097473]
[ENSMUST00000195015]
|
| AlphaFold |
Q921L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097473
|
| SMART Domains |
Protein: ENSMUSP00000095081
Gene: ENSMUSG00000052428
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF106
|
3 |
166 |
6.4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195015
|
| SMART Domains |
Protein: ENSMUSP00000142042
Gene: ENSMUSG00000052428
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF106
|
3 |
166 |
2.7e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| 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 |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,133 (GRCm39) |
M1T |
probably null |
Het |
| Abca13 |
A |
G |
11: 9,227,847 (GRCm39) |
E630G |
probably benign |
Het |
| Abcf2 |
T |
A |
5: 24,778,504 (GRCm39) |
H218L |
possibly damaging |
Het |
| Abo |
A |
T |
2: 26,733,395 (GRCm39) |
M268K |
probably benign |
Het |
| Ankrd33 |
G |
T |
15: 101,014,029 (GRCm39) |
|
probably benign |
Het |
| Apc |
G |
C |
18: 34,446,251 (GRCm39) |
R1049T |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,941,338 (GRCm39) |
K412E |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,809,202 (GRCm39) |
|
probably null |
Het |
| Ccdc152 |
T |
G |
15: 3,330,643 (GRCm39) |
K11Q |
probably damaging |
Het |
| Ccdc38 |
T |
A |
10: 93,401,735 (GRCm39) |
W232R |
probably damaging |
Het |
| Cluh |
C |
T |
11: 74,551,192 (GRCm39) |
P347L |
possibly damaging |
Het |
| Cntn3 |
A |
G |
6: 102,314,288 (GRCm39) |
L142P |
probably damaging |
Het |
| Ctnnd2 |
T |
A |
15: 30,806,884 (GRCm39) |
M601K |
probably damaging |
Het |
| D930048N14Rik |
G |
A |
11: 51,545,734 (GRCm39) |
D209N |
unknown |
Het |
| Dcaf6 |
A |
T |
1: 165,164,332 (GRCm39) |
N814K |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,632,406 (GRCm39) |
D455V |
possibly damaging |
Het |
| Fcna |
A |
C |
2: 25,514,956 (GRCm39) |
L301W |
possibly damaging |
Het |
| Garin1b |
C |
T |
6: 29,323,902 (GRCm39) |
T209I |
probably benign |
Het |
| Gdf9 |
T |
G |
11: 53,324,269 (GRCm39) |
C13G |
probably damaging |
Het |
| Hells |
T |
A |
19: 38,933,858 (GRCm39) |
N226K |
probably damaging |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,564,153 (GRCm39) |
|
probably benign |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
| Kirrel2 |
T |
C |
7: 30,150,305 (GRCm39) |
I508V |
probably benign |
Het |
| Klhl38 |
T |
A |
15: 58,186,022 (GRCm39) |
I236F |
probably damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,126,870 (GRCm39) |
C425* |
probably null |
Het |
| Letm1 |
A |
G |
5: 33,918,213 (GRCm39) |
F311L |
probably damaging |
Het |
| Lypd11 |
A |
T |
7: 24,422,173 (GRCm39) |
I192N |
possibly damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,342,016 (GRCm39) |
V409A |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,391,501 (GRCm39) |
C318Y |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,393,692 (GRCm39) |
Y1141C |
|
Het |
| Ndufv2 |
T |
A |
17: 66,390,475 (GRCm39) |
D165V |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,123 (GRCm39) |
K303E |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,196,808 (GRCm39) |
|
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,342,897 (GRCm39) |
Q100R |
probably damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,141 (GRCm39) |
H56L |
probably damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,523 (GRCm39) |
N21S |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,546,001 (GRCm39) |
V451I |
possibly damaging |
Het |
| Pask |
G |
A |
1: 93,253,191 (GRCm39) |
Q399* |
probably null |
Het |
| Pbk |
T |
A |
14: 66,049,439 (GRCm39) |
F39I |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,753 (GRCm39) |
K1794R |
possibly damaging |
Het |
| Pibf1 |
T |
C |
14: 99,424,069 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
G |
A |
1: 97,645,187 (GRCm39) |
T1089I |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,635,492 (GRCm39) |
F45L |
possibly damaging |
Het |
| Pramel21 |
T |
G |
4: 143,342,741 (GRCm39) |
S283A |
possibly damaging |
Het |
| Samd4 |
T |
C |
14: 47,301,728 (GRCm39) |
F344S |
probably damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,234,333 (GRCm39) |
M334I |
possibly damaging |
Het |
| Slc37a1 |
C |
T |
17: 31,556,365 (GRCm39) |
A363V |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,263,540 (GRCm39) |
I616F |
probably damaging |
Het |
| Srcin1 |
A |
G |
11: 97,427,206 (GRCm39) |
L257P |
probably damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,173,880 (GRCm39) |
F945L |
probably damaging |
Het |
| Thbs4 |
A |
T |
13: 92,911,187 (GRCm39) |
|
probably null |
Het |
| Trim62 |
G |
A |
4: 128,802,963 (GRCm39) |
V338M |
probably damaging |
Het |
| Ttll9 |
C |
T |
2: 152,818,113 (GRCm39) |
H20Y |
possibly damaging |
Het |
| Uevld |
A |
T |
7: 46,587,806 (GRCm39) |
I298N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,462,653 (GRCm39) |
E842G |
probably damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,346,296 (GRCm39) |
S1558R |
|
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 |
|
R0317:Tmco1
|
UTSW |
1 |
167,153,462 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
|
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'- GGCATCATAAAGGCTGGTTTAACC -3'
(R):5'- AACTTTGACAGCCCCGAGTC -3'
Sequencing Primer
(F):5'- TGGTTTAACCAGCGCCC -3'
(R):5'- TTTGACAGCCCCGAGTCTACAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation