Mutagenetix > Incidental Mutation

Incidental Mutation 'R9007:Tmco1'

685340

Institutional Source

Beutler Lab

Gene Symbol

Tmco1

Ensembl Gene

ENSMUSG00000052428

Gene Name

transmembrane and coiled-coil domains 1

Synonyms

1190006A08Rik, ESTM39, 4930403O06Rik

MMRRC Submission

068837-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.444) question?

Stock #

R9007 (G1)

Quality Score

165.009

Status

Validated

Chromosome

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: 99.9%
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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,935 (GRCm39)	C497S	probably benign	Het
4930453N24Rik	A	T	16: 64,589,377 (GRCm39)	Y92*	probably null	Het
Adam3	A	G	8: 25,205,127 (GRCm39)	V117A	probably benign	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Armh4	T	A	14: 50,011,695 (GRCm39)	D4V	probably damaging	Het
Atp6v0a4	T	C	6: 38,029,988 (GRCm39)	K692R	probably benign	Het
Atp8b1	A	G	18: 64,684,931 (GRCm39)	V730A	probably benign	Het
Bdh2	T	C	3: 134,991,309 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,905,332 (GRCm39)		probably null	Het
Chrm4	T	C	2: 91,758,075 (GRCm39)	V161A	possibly damaging	Het
Csmd3	T	C	15: 47,751,892 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,087,930 (GRCm39)	S349P	probably benign	Het
Ddx55	A	G	5: 124,697,370 (GRCm39)	N244S	probably damaging	Het
Dock1	A	G	7: 134,500,825 (GRCm39)		probably benign	Het
Dppa3	T	C	6: 122,605,724 (GRCm39)	S93P	probably damaging	Het
Echdc1	T	C	10: 29,220,426 (GRCm39)	I217T	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,416 (GRCm39)	L141Q	probably damaging	Het
Galnt15	T	C	14: 31,771,935 (GRCm39)	F451L	probably damaging	Het
Galnt9	G	A	5: 110,692,665 (GRCm39)	R33H	probably benign	Het
Iah1	G	A	12: 21,367,402 (GRCm39)	G36D	probably damaging	Het
Jakmip1	A	G	5: 37,332,857 (GRCm39)	D1179G	probably benign	Het
Kcnh1	A	G	1: 192,188,055 (GRCm39)	T866A	probably benign	Het
Kcnq4	T	A	4: 120,555,150 (GRCm39)	I678F	probably benign	Het
Lars2	A	T	9: 123,260,980 (GRCm39)	R384*	probably null	Het
Lman2	T	C	13: 55,500,773 (GRCm39)	D142G	probably damaging	Het
Lrp1b	T	C	2: 40,587,564 (GRCm39)	D3897G		Het
Lrrn1	T	A	6: 107,544,820 (GRCm39)	I206N	probably damaging	Het
Mapkbp1	T	A	2: 119,850,143 (GRCm39)	L802H	probably damaging	Het
Meaf6	T	C	4: 125,001,450 (GRCm39)		probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mis18bp1	G	A	12: 65,180,616 (GRCm39)	S955L	probably benign	Het
Mocs1	T	A	17: 49,756,819 (GRCm39)	M267K	probably damaging	Het
Mroh3	T	A	1: 136,128,110 (GRCm39)	Y263F	probably damaging	Het
Ndufs1	A	T	1: 63,198,878 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,492 (GRCm39)	Y532C	probably damaging	Het
Or51b6	A	G	7: 103,556,165 (GRCm39)	H170R		Het
Or6c205	A	T	10: 129,086,669 (GRCm39)	T89S	possibly damaging	Het
Ost4	A	G	5: 31,064,866 (GRCm39)	V5A	possibly damaging	Het
P2rx1	T	A	11: 72,900,059 (GRCm39)	C159S	probably damaging	Het
Paqr8	T	C	1: 21,005,614 (GRCm39)	L256P	possibly damaging	Het
Pgls	T	A	8: 72,048,689 (GRCm39)		probably benign	Het
Pkd2l1	T	C	19: 44,140,864 (GRCm39)	E566G	possibly damaging	Het
Plau	A	T	14: 20,889,613 (GRCm39)	H226L	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,872 (GRCm39)	N85S	probably damaging	Het
Rraga	T	C	4: 86,494,675 (GRCm39)	S174P	probably damaging	Het
Sacs	T	A	14: 61,445,185 (GRCm39)	D2410E	probably benign	Het
Sgms1	A	T	19: 32,137,227 (GRCm39)	M113K	probably benign	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Sqor	T	A	2: 122,649,876 (GRCm39)	Y373*	probably null	Het
Stra6l	T	A	4: 45,864,910 (GRCm39)	S79T	possibly damaging	Het
Svep1	T	C	4: 58,091,915 (GRCm39)	I1573M	possibly damaging	Het
Syne2	A	G	12: 76,146,224 (GRCm39)	D1674G	possibly damaging	Het
Tex26	C	A	5: 149,376,884 (GRCm39)	T91N	probably damaging	Het
Tigd2	T	G	6: 59,187,887 (GRCm39)	S251R	probably damaging	Het
Tnks1bp1	T	A	2: 84,901,048 (GRCm39)	L1585Q	probably damaging	Het
Trmt10c	A	G	16: 55,855,542 (GRCm39)	V31A	probably benign	Het
Ttc41	T	C	10: 86,569,625 (GRCm39)	S668P	probably damaging	Het
Uggt2	A	T	14: 119,326,724 (GRCm39)	D162E	probably damaging	Het
Vmn1r125	G	C	7: 21,006,503 (GRCm39)	V134L	probably benign	Het
Vmn1r225	T	A	17: 20,723,449 (GRCm39)	F297I	probably damaging	Het
Vps13c	A	G	9: 67,845,006 (GRCm39)	D2030G	probably benign	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
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'- GGCATCATAAAGGCTGGTTTAAC -3'
(R):5'- TTTGACAGCCCCGAGTCTAC -3'

Sequencing Primer
(F):5'- TGGTTTAACCAGCGCCC -3'
(R):5'- AGCCCCGAGTCTACACTTC -3'

Posted On

2021-10-11