Mutagenetix > Incidental Mutation

Incidental Mutation 'R9236:Tmco1'

700459

Institutional Source

Beutler Lab

Gene Symbol

Tmco1

Ensembl Gene

ENSMUSG00000052428

Gene Name

transmembrane and coiled-coil domains 1

Synonyms

1190006A08Rik, ESTM39, 4930403O06Rik

Accession Numbers

Essential gene?

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

Stock #

R9236 (G1)

Quality Score

135.008

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,626,712 (GRCm39)	T1514A	probably benign	Het
Abcb1b	G	A	5: 8,874,893 (GRCm39)		probably null	Het
Adam12	A	C	7: 133,614,022 (GRCm39)	L109R	probably benign	Het
Adgre1	T	A	17: 57,709,782 (GRCm39)	Y146*	probably null	Het
Ap5m1	G	T	14: 49,311,064 (GRCm39)	V45L	probably benign	Het
Bpifa5	A	T	2: 154,006,150 (GRCm39)	I113F	probably damaging	Het
Cacna1h	A	T	17: 25,600,424 (GRCm39)	M1639K	probably damaging	Het
Celsr1	T	C	15: 85,915,051 (GRCm39)	E974G	probably damaging	Het
Cfap251	T	C	5: 123,428,125 (GRCm39)	C980R	probably damaging	Het
Cggbp1	C	T	16: 64,676,318 (GRCm39)	A128V	probably benign	Het
Col7a1	G	T	9: 108,789,684 (GRCm39)	R898L	unknown	Het
Cycs	C	T	6: 50,543,507 (GRCm39)		probably benign	Het
Cyp2c54	A	T	19: 40,060,938 (GRCm39)	Y68*	probably null	Het
Dock9	T	C	14: 121,876,970 (GRCm39)	D467G	probably damaging	Het
Eif2s1	A	T	12: 78,921,343 (GRCm39)	I83L	probably benign	Het
Eppk1	T	A	15: 75,990,510 (GRCm39)	R2124*	probably null	Het
Fkbp15	G	C	4: 62,254,664 (GRCm39)	L279V	probably damaging	Het
Fndc1	A	G	17: 7,992,460 (GRCm39)	V412A	unknown	Het
Gfap	A	G	11: 102,786,327 (GRCm39)	I194T	probably damaging	Het
Gpatch2	C	A	1: 186,965,977 (GRCm39)	T350K	probably benign	Het
Hecw1	C	T	13: 14,490,643 (GRCm39)	G783D	possibly damaging	Het
Hipk1	A	T	3: 103,671,789 (GRCm39)	W437R	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hr	C	T	14: 70,809,396 (GRCm39)	P1136S	probably damaging	Het
Il1rl2	T	A	1: 40,368,221 (GRCm39)	N130K	probably damaging	Het
Kif13b	A	G	14: 64,982,383 (GRCm39)	I532V	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lrba	T	A	3: 86,261,066 (GRCm39)	I1474K	probably benign	Het
Luc7l3	T	C	11: 94,186,772 (GRCm39)	E371G	unknown	Het
Myo5b	T	A	18: 74,853,934 (GRCm39)	D1184E	probably benign	Het
N4bp2l2	T	C	5: 150,585,734 (GRCm39)	H82R	probably benign	Het
N4bp2l2	A	G	5: 150,585,479 (GRCm39)	M167T	probably benign	Het
Ndufaf1	T	C	2: 119,490,712 (GRCm39)	E118G	possibly damaging	Het
Nedd9	A	T	13: 41,492,153 (GRCm39)	V119E	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Ntmt1	T	A	2: 30,712,407 (GRCm39)	L150Q	probably damaging	Het
Or5b99	G	T	19: 12,976,763 (GRCm39)	V138F	probably damaging	Het
Or7g21	A	G	9: 19,033,206 (GRCm39)	*315W	probably null	Het
Or8b40	A	T	9: 38,027,496 (GRCm39)	M140L	possibly damaging	Het
Or8h7	C	T	2: 86,720,622 (GRCm39)	S299N	probably benign	Het
Osbpl8	A	G	10: 111,106,496 (GRCm39)	N301S	probably benign	Het
Pgm5	A	T	19: 24,839,003 (GRCm39)	S51T	probably benign	Het
Pitx2	A	G	3: 129,009,345 (GRCm39)	K88R	probably damaging	Het
Pnma8b	A	T	7: 16,679,964 (GRCm39)	D316V	unknown	Het
Pop1	C	A	15: 34,499,558 (GRCm39)	P41Q	probably damaging	Het
Rcor1	A	C	12: 111,070,080 (GRCm39)	K292N		Het
Rps6kc1	C	T	1: 190,532,200 (GRCm39)	D601N	probably damaging	Het
Sema7a	A	T	9: 57,862,408 (GRCm39)	I204F	probably damaging	Het
Slc29a4	T	C	5: 142,698,702 (GRCm39)	L121P	probably damaging	Het
Slc4a2	A	G	5: 24,644,308 (GRCm39)	T983A	probably benign	Het
Slc4a4	C	T	5: 89,194,158 (GRCm39)	R213*	probably null	Het
Tbc1d2	G	A	4: 46,609,029 (GRCm39)	T736I	probably benign	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Trip12	A	C	1: 84,703,550 (GRCm39)	L1895R	probably damaging	Het
Ttc41	A	T	10: 86,612,594 (GRCm39)	Y1289F	probably damaging	Het
Vmn1r70	G	A	7: 10,368,016 (GRCm39)	C168Y	probably damaging	Het
Vtcn1	C	A	3: 100,795,533 (GRCm39)	R167S	probably benign	Het
Zfp369	G	A	13: 65,445,010 (GRCm39)	V718I	probably benign	Het
Zfp608	T	C	18: 55,032,354 (GRCm39)	T529A	probably benign	Het
Zfp936	A	G	7: 42,836,922 (GRCm39)	N46D	probably benign	Het
Zfp974	A	G	7: 27,610,342 (GRCm39)	V461A	possibly damaging	Het
Zgrf1	A	G	3: 127,378,312 (GRCm39)	N1024S	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
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
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'- TACAACTTTGACAGCCCCGAG -3'

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

Posted On

2022-02-07