Mutagenetix > Incidental Mutations

Incidental Mutation 'R0317:Tmco1'

25427

Institutional Source

Beutler Lab

Gene Symbol

Tmco1

Ensembl Gene

ENSMUSG00000052428

Gene Name

transmembrane and coiled-coil domains 1

Synonyms

ESTM39, 4930403O06Rik, 1190006A08Rik

MMRRC Submission

038527-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R0317 (G1)

Quality Score

176

Status

Not validated

Chromosome

Chromosomal Location

167308378-167333978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167325893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 114 (V114A)

Ref Sequence

ENSEMBL: ENSMUSP00000142042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097473] [ENSMUST00000195015]

AlphaFold

Q921L3

Predicted Effect

probably damaging
Transcript: ENSMUST00000097473
AA Change: V114A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095081
Gene: ENSMUSG00000052428
AA Change: V114A

Domain	Start	End	E-Value	Type
Pfam:DUF106	3	166	6.4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193101

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193446
AA Change: V125A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000195015
AA Change: V114A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142042
Gene: ENSMUSG00000052428
AA Change: V114A

Domain	Start	End	E-Value	Type
Pfam:DUF106	3	166	2.7e-51	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,293,459	V1774A	probably damaging	Het
Adam34	G	A	8: 43,652,251	P119L	probably benign	Het
Ap3b2	T	C	7: 81,463,681		probably null	Het
Arfip2	G	A	7: 105,637,223	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,423,544	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,172,697		probably null	Het
Cab39	A	G	1: 85,849,160	E322G	probably damaging	Het
Cad	C	A	5: 31,072,321	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,706,901		probably null	Het
Cela2a	A	T	4: 141,821,700		probably null	Het
Ces1e	A	C	8: 93,224,039	I38S	probably benign	Het
Ces1f	A	T	8: 93,263,391	F364I	probably benign	Het
Chgb	A	G	2: 132,793,811	T558A	probably benign	Het
Cnpy4	C	T	5: 138,192,812	Q217*	probably null	Het
Col4a3bp	C	T	13: 96,634,121	R487*	probably null	Het
Crlf1	A	G	8: 70,498,599	T43A	probably benign	Het
Dnah7b	T	A	1: 46,134,656	M707K	probably damaging	Het
Ets2	G	A	16: 95,712,149	S123N	probably damaging	Het
Fam196b	C	A	11: 34,402,826	D289E	possibly damaging	Het
Fry	T	C	5: 150,471,468	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,116	R120H	probably benign	Het
Gbf1	A	G	19: 46,254,020	T96A	probably benign	Het
Ggn	T	A	7: 29,171,090	M1K	probably null	Het
Gm5239	A	G	18: 35,536,916	T112A	probably benign	Het
Kif1bp	A	T	10: 62,578,082		probably null	Het
Lrrc15	A	T	16: 30,273,743	H259Q	probably benign	Het
Lysmd4	A	G	7: 67,226,297	Y236C	probably damaging	Het
Med29	T	C	7: 28,386,859	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,357,799	D68Y	probably damaging	Het
Myh1	T	C	11: 67,217,512	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,551,931		probably null	Het
Olfr948	A	G	9: 39,319,461	I51T	probably benign	Het
Pdhx	A	G	2: 103,028,280	V393A	probably benign	Het
Pgm5	A	G	19: 24,824,399	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,022	I889F	probably benign	Het
Phactr4	T	A	4: 132,386,930	K51I	probably damaging	Het
Pum2	T	A	12: 8,728,754	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,725,553	S24P	probably damaging	Het
Rasef	T	C	4: 73,748,562	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,087,144	D339G	probably benign	Het
Recql5	A	G	11: 115,894,673	S666P	probably benign	Het
Rfc1	A	T	5: 65,296,052		probably null	Het
Scarb1	A	G	5: 125,289,692	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,946,356	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,358,625	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,504,426	Y104D	probably damaging	Het
Suz12	T	A	11: 79,999,078	D13E	probably damaging	Het
Tlr1	G	T	5: 64,925,967	C422*	probably null	Het
Trpa1	T	C	1: 14,881,632	T948A	probably benign	Het
Tub	A	T	7: 109,020,927	N93Y	probably damaging	Het
Ufsp2	G	A	8: 45,992,233		probably null	Het
Veph1	T	C	3: 66,171,975	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,620,960	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 64,081,819	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,851,583	S480G	probably benign	Het
Wnk4	T	C	11: 101,268,804	S612P	probably benign	Het
Zfp503	T	C	14: 21,986,459	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602	C628Y	possibly damaging	Het

Other mutations in Tmco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Tmco1	APN	1	167316268	missense	probably damaging	1.00
IGL02619:Tmco1	APN	1	167326028	splice site	probably benign
IGL03093:Tmco1	APN	1	167316279	missense	probably damaging	1.00
R1704:Tmco1	UTSW	1	167325937	missense	possibly damaging	0.64
R7144:Tmco1	UTSW	1	167308453	start gained	probably benign
R7540:Tmco1	UTSW	1	167326003	missense
R7851:Tmco1	UTSW	1	167308686	start gained	probably benign
R8436:Tmco1	UTSW	1	167308685	missense
R8890:Tmco1	UTSW	1	167316245	missense
R9005:Tmco1	UTSW	1	167308563	start gained	probably benign
R9006:Tmco1	UTSW	1	167308563	start gained	probably benign
R9007:Tmco1	UTSW	1	167308563	start gained	probably benign
R9030:Tmco1	UTSW	1	167308563	start gained	probably benign
R9058:Tmco1	UTSW	1	167308563	start gained	probably benign
R9060:Tmco1	UTSW	1	167308563	start gained	probably benign
R9061:Tmco1	UTSW	1	167308563	start gained	probably benign
R9103:Tmco1	UTSW	1	167308563	start gained	probably benign
R9113:Tmco1	UTSW	1	167308563	start gained	probably benign
R9175:Tmco1	UTSW	1	167308563	start gained	probably benign
R9227:Tmco1	UTSW	1	167308563	start gained	probably benign
R9228:Tmco1	UTSW	1	167308563	start gained	probably benign
R9229:Tmco1	UTSW	1	167308563	start gained	probably benign
R9230:Tmco1	UTSW	1	167308563	start gained	probably benign
R9233:Tmco1	UTSW	1	167308563	start gained	probably benign
R9235:Tmco1	UTSW	1	167308563	start gained	probably benign
R9236:Tmco1	UTSW	1	167308563	start gained	probably benign
R9254:Tmco1	UTSW	1	167308563	start gained	probably benign
R9255:Tmco1	UTSW	1	167308563	start gained	probably benign
R9256:Tmco1	UTSW	1	167308563	start gained	probably benign
R9257:Tmco1	UTSW	1	167308563	start gained	probably benign
R9282:Tmco1	UTSW	1	167308563	start gained	probably benign
R9330:Tmco1	UTSW	1	167308563	start gained	probably benign
R9331:Tmco1	UTSW	1	167308563	start gained	probably benign
R9408:Tmco1	UTSW	1	167314131	missense

Predicted Primers

PCR Primer
(F):5'- TTCCTACCAGAAGCATGGAGAGGC -3'
(R):5'- GCAGAGCTAGTGTGATCTAGCAGTG -3'

Sequencing Primer
(F):5'- CATGGAGAGGCACTTGTTTCAG -3'
(R):5'- TGTGATCTAGCAGTGGCAGAAAG -3'

Posted On

2013-04-16