Mutagenetix > Incidental Mutation

Incidental Mutation 'R7851:Tmco1'

606907

Institutional Source

Beutler Lab

Gene Symbol

Tmco1

Ensembl Gene

ENSMUSG00000052428

Gene Name

transmembrane and coiled-coil domains 1

Synonyms

1190006A08Rik, ESTM39, 4930403O06Rik

MMRRC Submission

045904-MU

Accession Numbers

Essential gene?

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

Stock #

R7851 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

167136239-167161547 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 167136255 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

silent
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% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,300,838 (GRCm39)		probably null	Het
Abcc3	A	T	11: 94,250,486 (GRCm39)	L905*	probably null	Het
Adamts9	T	G	6: 92,885,687 (GRCm39)	D401A	probably damaging	Het
Ankmy1	T	C	1: 92,799,444 (GRCm39)	K918E	probably damaging	Het
Arfgef3	T	C	10: 18,468,034 (GRCm39)	N1722S	probably damaging	Het
Arhgef18	A	G	8: 3,498,409 (GRCm39)	I481V	possibly damaging	Het
Asxl3	T	C	18: 22,650,279 (GRCm39)	I756T	possibly damaging	Het
Atp6v0b	A	G	4: 117,743,062 (GRCm39)	F49S	probably damaging	Het
Baz2b	C	A	2: 59,767,060 (GRCm39)	E107D	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cd2ap	A	G	17: 43,135,363 (GRCm39)		probably null	Het
Cnn3	T	A	3: 121,250,992 (GRCm39)	Y304N	possibly damaging	Het
Cnot2	G	A	10: 116,373,337 (GRCm39)	S22L	possibly damaging	Het
Coq6	A	T	12: 84,418,929 (GRCm39)	H311L	possibly damaging	Het
Csf2rb2	T	C	15: 78,173,137 (GRCm39)	N350S	probably benign	Het
Dhrs9	T	A	2: 69,231,600 (GRCm39)	N253K	probably benign	Het
Dok7	T	A	5: 35,214,280 (GRCm39)	M1K	probably null	Het
Eogt	T	A	6: 97,097,162 (GRCm39)	E313D	probably benign	Het
Etl4	T	C	2: 20,748,951 (GRCm39)	S430P	probably damaging	Het
Gfod2	T	A	8: 106,454,762 (GRCm39)	E39D	probably benign	Het
Gfral	T	C	9: 76,112,737 (GRCm39)	N65D	probably benign	Het
Gsdmc4	A	T	15: 63,774,595 (GRCm39)	L62*	probably null	Het
Gyg1	T	G	3: 20,176,911 (GRCm39)	M360L	probably benign	Het
Hsp90ab1	A	T	17: 45,881,378 (GRCm39)	S255T	probably benign	Het
Hyal6	T	A	6: 24,734,497 (GRCm39)	D143E	probably benign	Het
Ipp	C	T	4: 116,372,672 (GRCm39)	Q234*	probably null	Het
Ism1	A	T	2: 139,599,185 (GRCm39)	D386V	probably damaging	Het
Jrkl	T	C	9: 13,244,354 (GRCm39)	T436A	probably benign	Het
Mup3	A	C	4: 62,003,494 (GRCm39)	I125S	possibly damaging	Het
Myh6	T	A	14: 55,190,508 (GRCm39)	E1003V	possibly damaging	Het
Neb	T	A	2: 52,043,076 (GRCm39)	I6785F	probably benign	Het
Odad4	C	T	11: 100,436,655 (GRCm39)	T10I	probably damaging	Het
Or11g24	A	G	14: 50,662,827 (GRCm39)	T284A	probably damaging	Het
Or11h4b	A	G	14: 50,918,915 (GRCm39)	Y59H	probably damaging	Het
Or1j4	T	A	2: 36,740,428 (GRCm39)	Y123*	probably null	Het
Or2w25	T	C	11: 59,504,789 (GRCm39)	V333A	probably benign	Het
Or6c5c	G	T	10: 129,299,429 (GRCm39)	V295L	probably benign	Het
Pamr1	A	T	2: 102,416,945 (GRCm39)	T86S	probably benign	Het
Pced1a	A	T	2: 130,264,236 (GRCm39)	M168K	probably damaging	Het
Pigs	T	C	11: 78,227,613 (GRCm39)	L259P	probably damaging	Het
Plch1	T	C	3: 63,605,855 (GRCm39)	S1350G	probably damaging	Het
Prickle1	G	A	15: 93,398,440 (GRCm39)	T796I	possibly damaging	Het
Ptcd3	T	C	6: 71,879,843 (GRCm39)	I138M	probably damaging	Het
Ptprs	T	C	17: 56,732,482 (GRCm39)	E958G	probably benign	Het
Rcn3	A	T	7: 44,736,236 (GRCm39)	D157E	probably benign	Het
Rft1	T	C	14: 30,412,540 (GRCm39)	S534P	probably benign	Het
Ryr3	T	C	2: 112,508,862 (GRCm39)	T3371A	probably benign	Het
Scn10a	A	T	9: 119,446,828 (GRCm39)	V1399D	probably damaging	Het
Sec61a1	T	C	6: 88,489,147 (GRCm39)	T185A	probably benign	Het
Sgsm3	G	A	15: 80,894,954 (GRCm39)	V607M	probably damaging	Het
Smurf2	T	C	11: 106,721,752 (GRCm39)	Y581C	probably damaging	Het
Snx8	C	A	5: 140,343,914 (GRCm39)	V101L	probably damaging	Het
Sp100	A	T	1: 85,634,647 (GRCm39)	K180M	probably benign	Het
Spire2	T	A	8: 124,083,438 (GRCm39)		probably null	Het
St6galnac2	A	G	11: 116,576,764 (GRCm39)	S86P	probably benign	Het
Sybu	G	A	15: 44,609,852 (GRCm39)	Q139*	probably null	Het
Tas2r114	T	A	6: 131,666,888 (GRCm39)	I47F	probably damaging	Het
Tcf21	T	C	10: 22,695,747 (GRCm39)	D19G	probably benign	Het
Terb2	T	C	2: 122,016,794 (GRCm39)	F9L	probably damaging	Het
Tlr1	T	C	5: 65,082,307 (GRCm39)	T757A	possibly damaging	Het
Tshz3	T	C	7: 36,471,014 (GRCm39)	F1001S	probably damaging	Het
Vmn2r62	G	A	7: 42,438,539 (GRCm39)	T99I	probably benign	Het
Wdr7	A	T	18: 63,853,398 (GRCm39)	T33S	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
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'- TAACTTTTCGGCCACGGAGG -3'
(R):5'- AACATGGTGCTCATCTCGCC -3'

Sequencing Primer
(F):5'- TGAAGTCCAGCCACCGTGTG -3'
(R):5'- GCTCATCTCGCCCGTCTG -3'

Posted On

2019-12-20