Mutagenetix > Incidental Mutation

Incidental Mutation 'R3715:Tro'

259883

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

040708-MU

Accession Numbers

Essential gene?

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

Stock #

R3715 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

149428300-149440579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149437230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 476 (T476A)

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

probably damaging
Transcript: ENSMUST00000087253
AA Change: T476A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084508
Gene: ENSMUSG00000025272
AA Change: T476A

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: T476A

SMART Domains

Protein: ENSMUSP00000084513
Gene: ENSMUSG00000025272
AA Change: T476A

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: T476A

SMART Domains

Protein: ENSMUSP00000108329
Gene: ENSMUSG00000025272
AA Change: T476A

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

probably damaging
Transcript: ENSMUST00000148604
AA Change: T476A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116905
Gene: ENSMUSG00000025272
AA Change: T476A

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

probably damaging
Transcript: ENSMUST00000151403
AA Change: T476A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120457
Gene: ENSMUSG00000025272
AA Change: T476A

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

probably damaging
Transcript: ENSMUST00000163969
AA Change: T476A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126054
Gene: ENSMUSG00000025272
AA Change: T476A

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: ENSMUST00000165192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171775

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

0.1085

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Aaas	T	C	15: 102,248,771 (GRCm39)	I236V	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,135,213 (GRCm39)	I246N	probably benign	Het
Ak9	A	G	10: 41,233,508 (GRCm39)	D582G	probably damaging	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,187 (GRCm39)	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,068,880 (GRCm39)	I282M	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dlat	A	G	9: 50,549,354 (GRCm39)	V510A	probably damaging	Het
Eaf1	T	C	14: 31,224,402 (GRCm39)	I173T	possibly damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Epm2a	A	G	10: 11,219,420 (GRCm39)	Y69C	probably benign	Het
Fam168a	A	G	7: 100,473,432 (GRCm39)	N107S	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,488,571 (GRCm39)	A300S	probably benign	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Lyg1	G	T	1: 37,989,759 (GRCm39)	R43S	probably damaging	Het
Marchf6	A	G	15: 31,465,405 (GRCm39)	L833P	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Med17	G	A	9: 15,175,062 (GRCm39)		probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Or2t26	T	C	11: 49,039,642 (GRCm39)	L186P	probably damaging	Het
Or4c15	A	G	2: 88,759,757 (GRCm39)	W301R	probably benign	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Otof	T	A	5: 30,534,215 (GRCm39)	K1397*	probably null	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Rbfox2	A	G	15: 76,983,451 (GRCm39)	I270T	probably damaging	Het
Rnf217	G	T	10: 31,410,728 (GRCm39)	C322*	probably null	Het
Sbk1	A	G	7: 125,889,183 (GRCm39)	T50A	probably benign	Het
Shmt1	T	C	11: 60,688,402 (GRCm39)	T248A	probably damaging	Het
Smim29	G	A	17: 27,785,043 (GRCm39)		probably benign	Het
Sox30	C	T	11: 45,875,619 (GRCm39)	T457I	probably damaging	Het
Stox2	T	A	8: 47,866,187 (GRCm39)	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,361,738 (GRCm39)		probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,204,405 (GRCm39)	E235G	probably benign	Het
Tmem82	A	T	4: 141,344,945 (GRCm39)		probably null	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,752,272 (GRCm39)	R772G	probably damaging	Het
Xkr5	T	C	8: 18,984,474 (GRCm39)	E190G	probably benign	Het
Zfp236	A	G	18: 82,651,095 (GRCm39)		probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zp2	A	T	7: 119,741,057 (GRCm39)	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,819,755 (GRCm39)	T387A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGTTCTAAACTCAACTGAGC -3'
(R):5'- CAGACAGACAGAGGCATCTAGC -3'

Sequencing Primer
(F):5'- AGATAGTCATCTGCCAAGGCCTG -3'
(R):5'- TCTAGCAGACAGACAGAGGCATC -3'

Posted On

2015-01-23