Mutagenetix > Incidental Mutation

Incidental Mutation 'R9257:Tmco1'

701916

Institutional Source

Beutler Lab

Gene Symbol

Tmco1

Ensembl Gene

ENSMUSG00000052428

Gene Name

transmembrane and coiled-coil domains 1

Synonyms

1190006A08Rik, ESTM39, 4930403O06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R9257 (G1)

Quality Score

84.0076

Status

Not 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: 99.5%
20x: 97.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	A	2: 151,315,627 (GRCm39)	D17V	probably benign	Het
9130401M01Rik	A	C	15: 57,892,414 (GRCm39)	H128Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,315 (GRCm39)	Y166C	possibly damaging	Het
Adamtsl4	C	A	3: 95,588,575 (GRCm39)	V546F	probably damaging	Het
Als2cl	T	A	9: 110,723,755 (GRCm39)	V717E	probably damaging	Het
Atm	A	G	9: 53,407,150 (GRCm39)		probably null	Het
Atp2c1	C	A	9: 105,291,851 (GRCm39)	E904*	probably null	Het
Ccdc88c	G	A	12: 100,889,474 (GRCm39)	S1523F	possibly damaging	Het
Cds1	A	T	5: 101,963,751 (GRCm39)	I357F	probably benign	Het
Cilp	T	A	9: 65,174,451 (GRCm39)	V13D	possibly damaging	Het
Copz2	A	G	11: 96,748,386 (GRCm39)	D180G	possibly damaging	Het
Cpsf1	C	T	15: 76,484,992 (GRCm39)	E546K	probably benign	Het
Ctsm	T	C	13: 61,684,413 (GRCm39)	N320D	probably damaging	Het
Fat3	G	A	9: 15,907,863 (GRCm39)	T2713I	probably benign	Het
Fcrl5	T	A	3: 87,343,195 (GRCm39)	S2T	probably benign	Het
Fgfr4	T	C	13: 55,315,974 (GRCm39)	S796P	unknown	Het
Flrt3	A	G	2: 140,502,159 (GRCm39)	F490L	probably benign	Het
Fras1	A	T	5: 96,910,359 (GRCm39)	I3263F	probably damaging	Het
Hydin	A	T	8: 111,301,648 (GRCm39)	D3793V	probably damaging	Het
Kif5c	T	A	2: 49,590,604 (GRCm39)	L269*	probably null	Het
Klhl32	A	G	4: 24,649,608 (GRCm39)	V396A	probably benign	Het
Krt1c	C	T	15: 101,724,926 (GRCm39)	R228Q	probably benign	Het
Lcn9	T	C	2: 25,714,784 (GRCm39)		probably null	Het
Lingo4	A	C	3: 94,310,676 (GRCm39)	D538A	probably benign	Het
Lonp1	G	T	17: 56,927,516 (GRCm39)	Y299*	probably null	Het
Mettl16	T	A	11: 74,708,127 (GRCm39)	V442D	possibly damaging	Het
Mettl25b	G	T	3: 87,831,768 (GRCm39)	Q397K	probably benign	Het
Mis18bp1	A	G	12: 65,180,631 (GRCm39)	V950A	probably benign	Het
Mndal	A	T	1: 173,690,274 (GRCm39)	V352E	probably damaging	Het
Mrpl55	T	C	11: 59,096,578 (GRCm39)	V117A	probably benign	Het
Muc6	T	A	7: 141,226,738 (GRCm39)	S1430C	unknown	Het
Myh11	C	A	16: 14,087,120 (GRCm39)	G119C		Het
Myorg	T	C	4: 41,499,030 (GRCm39)	D200G	probably benign	Het
Neu1	A	G	17: 35,150,396 (GRCm39)	D5G	probably benign	Het
Nrcam	T	A	12: 44,610,837 (GRCm39)	D512E	probably benign	Het
Nup214	T	G	2: 31,923,347 (GRCm39)	V1292G	possibly damaging	Het
Nwd1	T	A	8: 73,397,566 (GRCm39)	L602M	probably damaging	Het
Or6c3b	C	A	10: 129,527,003 (GRCm39)	L302F	probably benign	Het
Pck2	G	T	14: 55,782,702 (GRCm39)	G379W	probably damaging	Het
Per2	C	T	1: 91,376,445 (GRCm39)	V143M	probably damaging	Het
Pfkl	A	T	10: 77,825,489 (GRCm39)	Y634N	probably damaging	Het
Phlpp1	A	G	1: 106,100,281 (GRCm39)	D183G	possibly damaging	Het
Pkdrej	T	A	15: 85,700,098 (GRCm39)	Y1946F	probably damaging	Het
Plxna4	C	T	6: 32,139,018 (GRCm39)	D1717N	probably damaging	Het
Ppp1r14bl	G	T	1: 23,141,275 (GRCm39)	T13N	probably benign	Het
Pramel23	T	A	4: 143,425,685 (GRCm39)	D86V	probably damaging	Het
Prdm16	A	T	4: 154,422,155 (GRCm39)	V879E	probably damaging	Het
Prr23a3	T	C	9: 98,747,298 (GRCm39)	V84A	probably benign	Het
Ptp4a1	A	G	1: 30,985,346 (GRCm39)		probably benign	Het
Rhbdf1	T	C	11: 32,160,754 (GRCm39)	H634R	probably benign	Het
Rmi2	T	C	16: 10,653,089 (GRCm39)	S46P	probably benign	Het
Rsf1	A	T	7: 97,334,918 (GRCm39)	E1350D		Het
Slc6a6	T	A	6: 91,716,952 (GRCm39)	F276Y	possibly damaging	Het
Sppl3	A	G	5: 115,221,532 (GRCm39)	Y120C	probably benign	Het
Stard13	G	T	5: 150,985,956 (GRCm39)	A518E	probably benign	Het
Taf2	A	T	15: 54,929,409 (GRCm39)	V49E	possibly damaging	Het
Tas2r140	T	A	6: 40,468,592 (GRCm39)	W141R	probably damaging	Het
Tlx2	T	A	6: 83,047,035 (GRCm39)	H9L	unknown	Het
Tmem132d	G	A	5: 127,861,491 (GRCm39)	Q877*	probably null	Het
Unc5d	A	T	8: 29,215,174 (GRCm39)		probably null	Het
Upp1	A	T	11: 9,075,661 (GRCm39)	T4S	probably benign	Het
Uros	A	T	7: 133,292,853 (GRCm39)	I146N	probably damaging	Het
Vsig10	A	T	5: 117,463,131 (GRCm39)	D119V	probably benign	Het
Washc2	C	A	6: 116,193,069 (GRCm39)	Y138*	probably null	Het
Ywhah	T	A	5: 33,184,095 (GRCm39)	D99E	probably benign	Het
Zdbf2	G	A	1: 63,345,400 (GRCm39)	G1260R	probably damaging	Het
Zfp663	T	C	2: 165,195,974 (GRCm39)	T82A	probably benign	Het
Zfp831	T	A	2: 174,488,156 (GRCm39)	C944S	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
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
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
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'- CGGCATCATAAAGGCTGGTTTAAC -3'
(R):5'- AACTTTGACAGCCCCGAGTC -3'

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

Posted On

2022-03-25