Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Tmco1'

700329

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 #

R9233 (G1)

Quality Score

153.008

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,082,496 (GRCm39)	T1159K	probably benign	Het
Acap1	A	G	11: 69,775,484 (GRCm39)	V479A	probably benign	Het
Actl11	A	G	9: 107,807,900 (GRCm39)	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909 (GRCm39)	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,176,653 (GRCm39)	R418*	probably null	Het
Asic3	G	A	5: 24,618,837 (GRCm39)	R43H	probably damaging	Het
Bsn	A	G	9: 107,994,289 (GRCm39)	V662A	probably benign	Het
Cacna1a	C	T	8: 85,271,283 (GRCm39)	R479C	probably damaging	Het
Chchd3	A	T	6: 32,780,845 (GRCm39)	C214S	probably damaging	Het
Cspg4b	A	T	13: 113,502,754 (GRCm39)	Y100F		Het
Dock9	T	A	14: 121,820,781 (GRCm39)	T1538S	probably benign	Het
Dyrk1a	A	G	16: 94,466,913 (GRCm39)	M156V	probably benign	Het
Dzip1	T	C	14: 119,124,635 (GRCm39)	Q546R	probably benign	Het
Eef2	T	C	10: 81,014,668 (GRCm39)	V185A	probably benign	Het
Etv4	A	C	11: 101,662,532 (GRCm39)	V314G	probably damaging	Het
F5	T	A	1: 164,047,020 (GRCm39)	I2160N	probably damaging	Het
Fbp2	A	T	13: 62,989,622 (GRCm39)	V228E	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,519 (GRCm39)	Y444C	possibly damaging	Het
Fhip2a	T	A	19: 57,369,098 (GRCm39)	F360L	probably damaging	Het
Gcc1	A	G	6: 28,418,710 (GRCm39)	L541P	probably damaging	Het
Gemin4	A	G	11: 76,103,942 (GRCm39)	I273T	possibly damaging	Het
Gm32742	T	C	9: 51,056,387 (GRCm39)	K1193E	possibly damaging	Het
Gmps	C	T	3: 63,924,133 (GRCm39)	P687L	probably damaging	Het
Gpr162	A	G	6: 124,836,014 (GRCm39)	L462P	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspa12b	T	C	2: 130,976,036 (GRCm39)	Y13H	probably damaging	Het
Kcnh8	A	C	17: 53,285,168 (GRCm39)	E1046A	probably damaging	Het
Kcnk12	T	A	17: 88,053,538 (GRCm39)	T375S	probably benign	Het
Kdm4a	A	G	4: 118,004,193 (GRCm39)		probably null	Het
Klhl5	G	T	5: 65,300,673 (GRCm39)	V219L	possibly damaging	Het
Kpna1	A	T	16: 35,853,793 (GRCm39)	E474D	probably damaging	Het
Lama5	A	T	2: 179,840,502 (GRCm39)	Y632*	probably null	Het
Lias	A	G	5: 65,551,331 (GRCm39)	N88S	probably benign	Het
Mei1	C	T	15: 81,973,752 (GRCm39)	R80C		Het
Mical2	T	G	7: 111,981,399 (GRCm39)	S458A	probably benign	Het
Mrps33	A	G	6: 39,782,447 (GRCm39)	S25P	probably benign	Het
Mttp	T	A	3: 137,822,280 (GRCm39)	D169V	probably damaging	Het
Npdc1	A	G	2: 25,296,329 (GRCm39)	E72G	probably damaging	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Pcnx4	A	G	12: 72,603,587 (GRCm39)	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigu	C	T	2: 155,178,610 (GRCm39)	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,279,397 (GRCm39)	R52*	probably null	Het
Rbm33	A	G	5: 28,544,239 (GRCm39)	E165G	probably benign	Het
Rnf5	A	T	17: 34,822,326 (GRCm39)	V41E	possibly damaging	Het
Ror2	T	C	13: 53,265,590 (GRCm39)	T501A	probably benign	Het
Rps17	T	G	7: 80,993,497 (GRCm39)	M105L	probably benign	Het
Ryr2	A	T	13: 11,610,772 (GRCm39)	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,416,720 (GRCm39)	M721V	probably benign	Het
Scgb1b30	A	G	7: 33,799,184 (GRCm39)	T39A	probably damaging	Het
Selenoo	T	C	15: 88,984,044 (GRCm39)	V620A	probably damaging	Het
Slfn8	A	C	11: 82,894,422 (GRCm39)	I739R	probably damaging	Het
Smc6	A	G	12: 11,359,291 (GRCm39)	T972A	probably benign	Het
Spred1	G	A	2: 117,002,644 (GRCm39)	R221H	unknown	Het
Stag1	T	A	9: 100,812,024 (GRCm39)	M834K	probably benign	Het
Taf1a	T	C	1: 183,181,878 (GRCm39)	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,175,018 (GRCm39)	D158N	probably benign	Het
Tcirg1	G	T	19: 3,952,543 (GRCm39)	T275K	probably damaging	Het
Tor1b	A	C	2: 30,844,015 (GRCm39)	I151L	probably benign	Het
Trappc12	T	A	12: 28,772,414 (GRCm39)	Q471L	possibly damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,613,272 (GRCm39)	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,461,381 (GRCm39)	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,272,399 (GRCm39)	R118G	probably benign	Het
Vps13d	G	A	4: 144,879,344 (GRCm39)	T1493I		Het
Xrra1	T	G	7: 99,516,574 (GRCm39)	M6R	probably benign	Het
Zfp142	T	C	1: 74,610,288 (GRCm39)	E1169G	probably benign	Het
Zfp738	G	T	13: 67,819,017 (GRCm39)	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,776,310 (GRCm39)	M1209T	probably 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
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

2022-02-07