Incidental Mutation 'R1378:Tro'
| ID |
162976 |
| 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 |
039442-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R1378 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
149428300-149440579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 149438567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 30
(P30Q)
|
| 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: P30Q
|
| SMART Domains |
Protein: ENSMUSP00000084508
Gene: ENSMUSG00000025272
AA Change: P30Q
| 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: P30Q
|
| SMART Domains |
Protein: ENSMUSP00000084513
Gene: ENSMUSG00000025272
AA Change: P30Q
| 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: P30Q
|
| SMART Domains |
Protein: ENSMUSP00000108329
Gene: ENSMUSG00000025272
AA Change: P30Q
| 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: P30Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116905
Gene: ENSMUSG00000025272
AA Change: P30Q
| 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: P30Q
|
| SMART Domains |
Protein: ENSMUSP00000120457
Gene: ENSMUSG00000025272
AA Change: P30Q
| 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: P30Q
|
| SMART Domains |
Protein: ENSMUSP00000126054
Gene: ENSMUSG00000025272
AA Change: P30Q
| 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: ENSMUST00000165192
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169450
|
| 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 |
0.1008 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,126,030 (GRCm39) |
T342A |
probably damaging |
Het |
| Alg1 |
A |
G |
16: 5,061,580 (GRCm39) |
N406D |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,239,246 (GRCm39) |
M825K |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,450 (GRCm39) |
I4117K |
probably damaging |
Het |
| Brinp2 |
A |
T |
1: 158,074,624 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,842,570 (GRCm39) |
V789D |
probably benign |
Het |
| Ccdc153 |
C |
G |
9: 44,154,958 (GRCm39) |
L94V |
probably null |
Het |
| Ccna1 |
A |
G |
3: 54,957,150 (GRCm39) |
V237A |
probably damaging |
Het |
| Cct7 |
T |
A |
6: 85,444,545 (GRCm39) |
|
probably null |
Het |
| Cenpb |
C |
T |
2: 131,020,230 (GRCm39) |
|
probably benign |
Het |
| Chrne |
T |
A |
11: 70,505,956 (GRCm39) |
|
probably null |
Het |
| Clstn3 |
T |
A |
6: 124,415,378 (GRCm39) |
D662V |
probably damaging |
Het |
| Clu |
G |
T |
14: 66,212,350 (GRCm39) |
C189F |
probably damaging |
Het |
| Cstdc5 |
A |
G |
16: 36,179,929 (GRCm39) |
C63R |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,973,052 (GRCm39) |
R1388C |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,571,696 (GRCm39) |
|
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,280 (GRCm39) |
T1236A |
probably benign |
Het |
| Edn2 |
A |
G |
4: 120,019,095 (GRCm39) |
E28G |
probably benign |
Het |
| Elp3 |
T |
C |
14: 65,830,380 (GRCm39) |
I24V |
probably benign |
Het |
| Faap24 |
T |
C |
7: 35,092,326 (GRCm39) |
E197G |
probably benign |
Het |
| Fam13a |
T |
A |
6: 58,933,736 (GRCm39) |
M285L |
probably benign |
Het |
| Gm9944 |
T |
A |
4: 144,179,773 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,731,435 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,373 (GRCm39) |
I624F |
probably damaging |
Het |
| Ift22 |
A |
C |
5: 136,941,757 (GRCm39) |
K133T |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,429,394 (GRCm39) |
K316I |
possibly damaging |
Het |
| Klra17 |
T |
A |
6: 129,842,647 (GRCm39) |
E217V |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,130,402 (GRCm39) |
V657E |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,098,111 (GRCm39) |
K850N |
probably benign |
Het |
| Nsmce4a |
C |
T |
7: 130,139,900 (GRCm39) |
R276Q |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,962 (GRCm39) |
L203P |
probably damaging |
Het |
| Or4p8 |
T |
A |
2: 88,727,370 (GRCm39) |
R190S |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,475 (GRCm39) |
D123G |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,145 (GRCm39) |
R95* |
probably null |
Het |
| Pclo |
T |
C |
5: 14,732,327 (GRCm39) |
S3610P |
probably benign |
Het |
| Pon3 |
T |
G |
6: 5,230,813 (GRCm39) |
D238A |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,751 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,297 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,711 (GRCm39) |
Y1652C |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,799,871 (GRCm39) |
|
probably null |
Het |
| Soat1 |
A |
G |
1: 156,294,352 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,065,244 (GRCm39) |
N1558I |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 128,346,011 (GRCm39) |
F170L |
probably benign |
Het |
| Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
| Unc45b |
G |
A |
11: 82,827,678 (GRCm39) |
S725N |
probably benign |
Het |
| Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
| Vps35l |
G |
T |
7: 118,393,795 (GRCm39) |
E515* |
probably null |
Het |
| Vps35l |
A |
T |
7: 118,393,796 (GRCm39) |
E515V |
probably damaging |
Het |
| Zfp174 |
G |
A |
16: 3,667,353 (GRCm39) |
E181K |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCACTGCCAGTTAGGGATACC -3'
(R):5'- CAGGCTCGGCTATTAGCCTTTCAG -3'
Sequencing Primer
(F):5'- CTCAGTAGTAGCTGAAGCCTGAC -3'
(R):5'- CGGCTATTAGCCTTTCAGAAAGATG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation