Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Tro'

18495

Institutional Source

Beutler Lab

Gene Symbol

Tro

Ensembl Gene

ENSMUSG00000025272

Gene Name

trophinin

Synonyms

Tnn, magphinin, magphinin-alpha, magphinin-beta 2, magphinin-gamma, trophinin-2, necdin and trophinin like, Maged3l, Maged3, Trol

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0049 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

149428300-149440579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149437565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 364 (N364S)

Ref Sequence

ENSEMBL: ENSMUSP00000116905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087253] [ENSMUST00000087258] [ENSMUST00000112709] [ENSMUST00000148604] [ENSMUST00000151403] [ENSMUST00000163450] [ENSMUST00000163969] [ENSMUST00000164071]

AlphaFold

Q6DIC6

Predicted Effect

unknown
Transcript: ENSMUST00000087253
AA Change: N364S

SMART Domains

Protein: ENSMUSP00000084508
Gene: ENSMUSG00000025272
AA Change: N364S

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
low complexity region	48	55	N/A	INTRINSIC
internal_repeat_2	62	105	5.33e-6	PROSPERO
internal_repeat_1	95	280	8.68e-15	PROSPERO
internal_repeat_2	120	164	5.33e-6	PROSPERO
internal_repeat_1	275	441	8.68e-15	PROSPERO
low complexity region	445	471	N/A	INTRINSIC
low complexity region	491	501	N/A	INTRINSIC
low complexity region	526	542	N/A	INTRINSIC
Pfam:MAGE	596	765	8e-60	PFAM
SCOP:d1gt91_	780	951	9e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000087258
AA Change: N364S

SMART Domains

Protein: ENSMUSP00000084513
Gene: ENSMUSG00000025272
AA Change: N364S

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
low complexity region	48	55	N/A	INTRINSIC
internal_repeat_3	62	105	6.04e-6	PROSPERO
internal_repeat_2	95	280	2.73e-15	PROSPERO
internal_repeat_3	120	164	6.04e-6	PROSPERO
internal_repeat_2	275	441	2.73e-15	PROSPERO
low complexity region	445	471	N/A	INTRINSIC
low complexity region	491	501	N/A	INTRINSIC
low complexity region	526	542	N/A	INTRINSIC
Pfam:MAGE	596	765	1.6e-58	PFAM
low complexity region	794	810	N/A	INTRINSIC
low complexity region	891	1028	N/A	INTRINSIC
low complexity region	1057	1073	N/A	INTRINSIC
low complexity region	1087	1108	N/A	INTRINSIC
low complexity region	1110	1142	N/A	INTRINSIC
low complexity region	1144	1155	N/A	INTRINSIC
low complexity region	1157	1175	N/A	INTRINSIC
internal_repeat_1	1176	1361	9.97e-23	PROSPERO
low complexity region	1393	1409	N/A	INTRINSIC
internal_repeat_1	1540	1728	9.97e-23	PROSPERO
low complexity region	1764	1786	N/A	INTRINSIC
low complexity region	1790	1815	N/A	INTRINSIC
low complexity region	1821	1836	N/A	INTRINSIC
low complexity region	1870	1910	N/A	INTRINSIC
low complexity region	1915	1931	N/A	INTRINSIC
low complexity region	1962	2085	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000112709
AA Change: N364S

SMART Domains

Protein: ENSMUSP00000108329
Gene: ENSMUSG00000025272
AA Change: N364S

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
low complexity region	48	55	N/A	INTRINSIC
internal_repeat_3	62	105	6.04e-6	PROSPERO
internal_repeat_2	95	280	2.73e-15	PROSPERO
internal_repeat_3	120	164	6.04e-6	PROSPERO
internal_repeat_2	275	441	2.73e-15	PROSPERO
low complexity region	445	471	N/A	INTRINSIC
low complexity region	491	501	N/A	INTRINSIC
low complexity region	526	542	N/A	INTRINSIC
MAGE	596	765	2.03e-90	SMART
low complexity region	794	810	N/A	INTRINSIC
low complexity region	891	1028	N/A	INTRINSIC
low complexity region	1057	1073	N/A	INTRINSIC
low complexity region	1087	1108	N/A	INTRINSIC
low complexity region	1110	1142	N/A	INTRINSIC
low complexity region	1144	1155	N/A	INTRINSIC
low complexity region	1157	1175	N/A	INTRINSIC
internal_repeat_1	1176	1361	9.97e-23	PROSPERO
low complexity region	1393	1409	N/A	INTRINSIC
internal_repeat_1	1540	1728	9.97e-23	PROSPERO
low complexity region	1764	1786	N/A	INTRINSIC
low complexity region	1790	1815	N/A	INTRINSIC
low complexity region	1821	1836	N/A	INTRINSIC
low complexity region	1870	1910	N/A	INTRINSIC
low complexity region	1915	1931	N/A	INTRINSIC
low complexity region	1962	2085	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148604
AA Change: N364S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116905
Gene: ENSMUSG00000025272
AA Change: N364S

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
low complexity region	48	55	N/A	INTRINSIC
internal_repeat_1	95	280	5.1e-9	PROSPERO
internal_repeat_1	275	441	5.1e-9	PROSPERO
low complexity region	445	471	N/A	INTRINSIC
low complexity region	491	501	N/A	INTRINSIC
low complexity region	526	542	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151403
AA Change: N364S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120457
Gene: ENSMUSG00000025272
AA Change: N364S

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
low complexity region	48	55	N/A	INTRINSIC
internal_repeat_1	95	280	6.85e-11	PROSPERO
internal_repeat_1	275	441	6.85e-11	PROSPERO
low complexity region	445	471	N/A	INTRINSIC
low complexity region	491	501	N/A	INTRINSIC
low complexity region	526	542	N/A	INTRINSIC
Pfam:MAGE	596	765	6.3e-60	PFAM
low complexity region	794	808	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163450

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163969
AA Change: N364S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126054
Gene: ENSMUSG00000025272
AA Change: N364S

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
low complexity region	48	55	N/A	INTRINSIC
internal_repeat_1	95	280	5.6e-10	PROSPERO
internal_repeat_1	275	441	5.6e-10	PROSPERO
low complexity region	445	471	N/A	INTRINSIC
low complexity region	491	501	N/A	INTRINSIC
low complexity region	526	542	N/A	INTRINSIC
Pfam:MAGE	596	765	5.9e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165192

Predicted Effect

probably benign
Transcript: ENSMUST00000164071

SMART Domains

Protein: ENSMUSP00000126042
Gene: ENSMUSG00000025272

Domain	Start	End	E-Value	Type
Pfam:MAGE	54	223	7.1e-61	PFAM
low complexity region	252	266	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 90.0%
3x: 87.7%
10x: 82.4%
20x: 74.6%

Validation Efficiency

89% (108/122)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
PHENOTYPE: Homozygous female or hemizygous male mice on a mixed 129 and NIH black Swiss background are viable, fertile and elderly mice exhibit no disorders. On an inbred 129 background, homozygous female or hemizygous male mice show partial embryonic lethality between E3.5 and E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dcst2	T	C	3: 89,278,913 (GRCm39)	V550A	probably benign	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gm10648	T	C	7: 28,561,202 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Taok2	G	A	7: 126,465,583 (GRCm39)	H404Y	possibly damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Trav1	T	A	14: 52,666,155 (GRCm39)	S52T	probably damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	Het

Other mutations in Tro

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Tro	APN	X	149,438,321 (GRCm39)	missense	probably benign	0.45
IGL00818:Tro	APN	X	149,431,357 (GRCm39)	missense	probably damaging	1.00
IGL03170:Tro	APN	X	149,438,556 (GRCm39)	missense	probably benign	0.36
R0022:Tro	UTSW	X	149,430,508 (GRCm39)	intron	probably benign
R1378:Tro	UTSW	X	149,438,567 (GRCm39)	missense	probably damaging	1.00
R2228:Tro	UTSW	X	149,438,477 (GRCm39)	missense	probably benign	0.17
R3080:Tro	UTSW	X	149,438,198 (GRCm39)	missense	probably benign	0.09
R3437:Tro	UTSW	X	149,429,252 (GRCm39)	intron	probably benign
R3715:Tro	UTSW	X	149,437,230 (GRCm39)	missense	probably damaging	1.00
R3783:Tro	UTSW	X	149,438,048 (GRCm39)	missense	possibly damaging	0.83
R3787:Tro	UTSW	X	149,438,048 (GRCm39)	missense	possibly damaging	0.83
R3840:Tro	UTSW	X	149,429,198 (GRCm39)	intron	probably benign
R4001:Tro	UTSW	X	149,438,198 (GRCm39)	missense	probably benign	0.09
R5449:Tro	UTSW	X	149,428,966 (GRCm39)	intron	probably benign
R7112:Tro	UTSW	X	149,428,852 (GRCm39)	intron	probably benign
R7909:Tro	UTSW	X	149,431,620 (GRCm39)	intron	probably benign
R8811:Tro	UTSW	X	149,438,555 (GRCm39)	missense	unknown
R8812:Tro	UTSW	X	149,438,555 (GRCm39)	missense	unknown
R8813:Tro	UTSW	X	149,438,555 (GRCm39)	missense	unknown

Posted On

2013-03-25