Mutagenetix > Incidental Mutation

Incidental Mutation 'R8813:Tro'

672585

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

068648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8813 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

149428300-149440579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149438555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 34 (S34L)

Ref Sequence

ENSEMBL: ENSMUSP00000084513 (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: S34L

SMART Domains

Protein: ENSMUSP00000084508
Gene: ENSMUSG00000025272
AA Change: S34L

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: S34L

SMART Domains

Protein: ENSMUSP00000084513
Gene: ENSMUSG00000025272
AA Change: S34L

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: S34L

SMART Domains

Protein: ENSMUSP00000108329
Gene: ENSMUSG00000025272
AA Change: S34L

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

unknown
Transcript: ENSMUST00000148604
AA Change: S34L

SMART Domains

Protein: ENSMUSP00000116905
Gene: ENSMUSG00000025272
AA Change: S34L

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

unknown
Transcript: ENSMUST00000151403
AA Change: S34L

SMART Domains

Protein: ENSMUSP00000120457
Gene: ENSMUSG00000025272
AA Change: S34L

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

unknown
Transcript: ENSMUST00000163969
AA Change: S34L

SMART Domains

Protein: ENSMUSP00000126054
Gene: ENSMUSG00000025272
AA Change: S34L

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

96% (48/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	T	C	2: 122,482,622 (GRCm39)	L62P	probably damaging	Het
Amotl2	T	G	9: 102,607,291 (GRCm39)	S700A	probably damaging	Het
Ccdc7a	A	G	8: 129,549,942 (GRCm39)	S1259P	possibly damaging	Het
Cenpj	C	T	14: 56,790,355 (GRCm39)	E565K	probably damaging	Het
Clmp	C	T	9: 40,692,549 (GRCm39)	R273*	probably null	Het
Cops7b	A	T	1: 86,528,846 (GRCm39)	Q191L	probably benign	Het
Cyp2c23	A	G	19: 44,002,054 (GRCm39)	F312L	probably benign	Het
Dgkd	G	A	1: 87,843,266 (GRCm39)	C169Y	probably damaging	Het
Dlec1	A	T	9: 118,956,498 (GRCm39)	N724I	probably benign	Het
Dmxl1	T	C	18: 50,090,406 (GRCm39)	V2831A	probably damaging	Het
Dnah5	G	T	15: 28,229,719 (GRCm39)	G118W	probably damaging	Het
Dnah6	G	T	6: 73,104,937 (GRCm39)	T1884K	probably damaging	Het
Dnai4	T	C	4: 102,947,697 (GRCm39)	E193G	possibly damaging	Het
Efnb2	T	A	8: 8,670,731 (GRCm39)	S290C	probably damaging	Het
Eif1ad6	A	G	12: 87,668,593 (GRCm39)	D75G	probably damaging	Het
Eif2ak4	C	A	2: 118,278,806 (GRCm39)	T990K	probably damaging	Het
Erich3	A	G	3: 154,468,827 (GRCm39)	D1093G	unknown	Het
H2-DMa	T	C	17: 34,354,734 (GRCm39)		probably benign	Het
Habp2	G	A	19: 56,295,216 (GRCm39)	D36N	probably benign	Het
Kcnk13	G	T	12: 100,027,647 (GRCm39)	G241W	probably damaging	Het
Kdm6b	GGGTGGTGGTGGTGGTGG	GGGTGGTGGTGGTGGTGGTGG	11: 69,297,655 (GRCm39)		probably benign	Het
Kdm6b	TGG	TGGGGG	11: 69,297,658 (GRCm39)		probably benign	Het
Klk1b5	G	T	7: 43,496,549 (GRCm39)	M160I	probably benign	Het
Lonp2	A	G	8: 87,358,073 (GRCm39)	Y98C	probably damaging	Het
Marcksl1	C	T	4: 129,408,999 (GRCm39)	P193S	probably benign	Het
Nup133	AAGAGA	AAGA	8: 124,638,627 (GRCm39)	900	probably null	Het
Nxf7	G	A	X: 134,484,515 (GRCm39)	R513C	possibly damaging	Het
Or13a19	C	A	7: 139,902,793 (GRCm39)	Y60*	probably null	Het
Or4a73	A	T	2: 89,420,730 (GRCm39)	M243K	probably benign	Het
Or52e5	T	A	7: 104,719,518 (GRCm39)	Y281*	probably null	Het
Or7g32	T	G	9: 19,389,477 (GRCm39)	D23A	possibly damaging	Het
Or7g34	A	T	9: 19,477,895 (GRCm39)	Y262N	probably damaging	Het
Otof	T	A	5: 30,540,242 (GRCm39)	M965L	probably benign	Het
Parp12	A	G	6: 39,073,508 (GRCm39)	F439S	probably damaging	Het
Pde1a	G	A	2: 79,959,261 (GRCm39)		probably benign	Het
Pramel22	T	A	4: 143,380,913 (GRCm39)	N370I	probably damaging	Het
Prrc2c	T	C	1: 162,532,812 (GRCm39)	N1268D	unknown	Het
Pter	T	C	2: 12,985,114 (GRCm39)	V148A	probably benign	Het
Rb1	A	G	14: 73,500,027 (GRCm39)	M540T	probably damaging	Het
Rnasel	T	A	1: 153,629,641 (GRCm39)	N52K	probably damaging	Het
Rragd	A	T	4: 33,012,953 (GRCm39)	I317F	possibly damaging	Het
Sla	G	T	15: 66,664,127 (GRCm39)	S81R	probably benign	Het
T	A	G	17: 8,653,532 (GRCm39)	E57G	probably benign	Het
Tanc1	T	A	2: 59,630,265 (GRCm39)	F748L	probably damaging	Het
Tnxb	T	A	17: 34,938,136 (GRCm39)	W3073R	probably damaging	Het
Trim33	A	G	3: 103,254,052 (GRCm39)	T967A	probably benign	Het
Trpm1	T	A	7: 63,851,756 (GRCm39)	M158K	possibly damaging	Het
Vmn1r205	A	G	13: 22,776,424 (GRCm39)	L226P	probably benign	Het
Vmn1r56	C	T	7: 5,198,733 (GRCm39)	V295M	probably damaging	Het
Vps13c	A	G	9: 67,778,566 (GRCm39)	D208G	probably damaging	Het
Zfp11	T	C	5: 129,735,278 (GRCm39)	D61G	probably benign	Het
Zscan4e	C	A	7: 11,041,540 (GRCm39)	E139*	probably null	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
R0049:Tro	UTSW	X	149,437,565 (GRCm39)	missense	possibly damaging	0.56
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

Predicted Primers

PCR Primer
(F):5'- TGAAGCCTGACTGATCTGGG -3'
(R):5'- ACAGGGAAGAGGAAACTTATCTATCTC -3'

Sequencing Primer
(F):5'- CCTGACTGATCTGGGTGAAC -3'
(R):5'- GAGGAAACTTATCTATCTCTTGCTCC -3'

Posted On

2021-04-30