Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01768:Trim50'

154001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim50

Ensembl Gene

ENSMUSG00000053388

Gene Name

tripartite motif-containing 50

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01768

Quality Score

Status

Chromosome

Chromosomal Location

135382149-135396859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 135392736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 217 (G217V)

Ref Sequence

ENSEMBL: ENSMUSP00000106811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065785] [ENSMUST00000111180]

AlphaFold

Q810I2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065785
AA Change: G217V

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388
AA Change: G217V

Domain	Start	End	E-Value	Type
RING	16	56	7.92e-8	SMART
BBOX	84	125	3.34e-6	SMART
coiled coil region	128	163	N/A	INTRINSIC
coiled coil region	206	235	N/A	INTRINSIC
PRY	292	344	1.07e-13	SMART
SPRY	345	473	7.48e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111180
AA Change: G217V

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388
AA Change: G217V

Domain	Start	End	E-Value	Type
RING	16	56	7.92e-8	SMART
BBOX	84	125	3.34e-6	SMART
coiled coil region	128	163	N/A	INTRINSIC
coiled coil region	206	235	N/A	INTRINSIC
PRY	293	345	1.07e-13	SMART
SPRY	346	474	7.48e-19	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired secretion of gastric acid with impaired stimulated tubulovesicular dynamics. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aifm3	T	C	16: 17,324,141 (GRCm39)	V567A	possibly damaging	Het
Arnt	T	C	3: 95,398,327 (GRCm39)		probably benign	Het
C8b	G	A	4: 104,644,151 (GRCm39)	E273K	probably benign	Het
Capn5	C	T	7: 97,774,480 (GRCm39)	R570H	probably damaging	Het
Cdh9	A	T	15: 16,778,311 (GRCm39)	D42V	possibly damaging	Het
Cdk17	T	C	10: 93,044,123 (GRCm39)	S21P	probably damaging	Het
Cdkl3	T	A	11: 51,916,744 (GRCm39)	F291I	probably damaging	Het
Cfap210	A	T	2: 69,612,471 (GRCm39)		probably benign	Het
Clmn	T	C	12: 104,747,978 (GRCm39)	E523G	probably damaging	Het
Cyp4f14	A	T	17: 33,126,976 (GRCm39)	I318N	probably damaging	Het
Daam1	T	A	12: 72,036,659 (GRCm39)	F1068L	probably benign	Het
Ext2	A	G	2: 93,621,455 (GRCm39)		probably benign	Het
F5	T	A	1: 164,003,914 (GRCm39)	F236L	probably benign	Het
Fat2	A	G	11: 55,153,394 (GRCm39)	V3606A	probably damaging	Het
Gpam	G	A	19: 55,075,952 (GRCm39)	T220M	probably benign	Het
Hyal1	C	A	9: 107,456,338 (GRCm39)	L342I	probably damaging	Het
Ilvbl	C	A	10: 78,419,127 (GRCm39)	P459T	possibly damaging	Het
Itga5	A	G	15: 103,259,997 (GRCm39)	Y632H	probably benign	Het
Jkampl	A	T	6: 73,445,899 (GRCm39)	L217M	possibly damaging	Het
Krt73	T	C	15: 101,707,291 (GRCm39)	D299G	probably benign	Het
Lcp1	T	C	14: 75,461,573 (GRCm39)	V522A	probably benign	Het
Lmo3	A	G	6: 138,393,495 (GRCm39)	C53R	probably damaging	Het
Nsun7	T	C	5: 66,436,043 (GRCm39)	V305A	probably benign	Het
Oprm1	T	C	10: 6,779,186 (GRCm39)	S196P	probably damaging	Het
Or2y1e	G	A	11: 49,218,958 (GRCm39)	C240Y	probably damaging	Het
Or4z4	A	T	19: 12,076,403 (GRCm39)	I200N	probably damaging	Het
Or7e168	G	A	9: 19,720,456 (GRCm39)	V281M	possibly damaging	Het
Ovgp1	T	C	3: 105,888,667 (GRCm39)		probably null	Het
Pcdhb20	T	C	18: 37,639,768 (GRCm39)	F765L	possibly damaging	Het
Ppp4r4	T	C	12: 103,547,664 (GRCm39)	V3A	probably benign	Het
Ruvbl1	A	G	6: 88,474,253 (GRCm39)	I419V	probably benign	Het
Scara5	T	A	14: 65,927,224 (GRCm39)	C40*	probably null	Het
Siglec1	T	C	2: 130,916,314 (GRCm39)	Q1212R	probably benign	Het
Slc31a1	G	A	4: 62,306,273 (GRCm39)		probably null	Het
Sparc	G	T	11: 55,296,069 (GRCm39)	N87K	probably damaging	Het
Tcf12	T	C	9: 71,776,278 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,860 (GRCm39)	F258I	probably benign	Het
Tm2d2	G	T	8: 25,508,095 (GRCm39)	V80L	possibly damaging	Het
Tpr	A	G	1: 150,320,199 (GRCm39)	D2249G	possibly damaging	Het
Ugcg	T	C	4: 59,217,216 (GRCm39)		probably null	Het
Vmn2r107	A	T	17: 20,565,868 (GRCm39)	H61L	probably benign	Het
Zfp84	A	G	7: 29,476,091 (GRCm39)	H261R	probably benign	Het
Zswim2	A	T	2: 83,748,301 (GRCm39)	M293K	probably benign	Het

Other mutations in Trim50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Trim50	APN	5	135,392,808 (GRCm39)	missense	probably damaging	0.99
IGL01565:Trim50	APN	5	135,396,355 (GRCm39)	missense	probably benign	0.05
IGL03394:Trim50	APN	5	135,392,807 (GRCm39)	missense	probably damaging	0.97
BB004:Trim50	UTSW	5	135,382,465 (GRCm39)	missense	probably benign
BB014:Trim50	UTSW	5	135,382,465 (GRCm39)	missense	probably benign
PIT4498001:Trim50	UTSW	5	135,382,331 (GRCm39)	missense	probably damaging	1.00
R0137:Trim50	UTSW	5	135,395,487 (GRCm39)	missense	probably damaging	1.00
R0694:Trim50	UTSW	5	135,382,399 (GRCm39)	missense	probably benign
R1797:Trim50	UTSW	5	135,382,355 (GRCm39)	missense	possibly damaging	0.96
R1806:Trim50	UTSW	5	135,387,743 (GRCm39)	missense	probably benign	0.00
R4688:Trim50	UTSW	5	135,395,994 (GRCm39)	missense	probably damaging	1.00
R5034:Trim50	UTSW	5	135,396,147 (GRCm39)	missense	possibly damaging	0.59
R5334:Trim50	UTSW	5	135,396,330 (GRCm39)	missense	probably damaging	1.00
R5336:Trim50	UTSW	5	135,396,330 (GRCm39)	missense	probably damaging	1.00
R5337:Trim50	UTSW	5	135,396,330 (GRCm39)	missense	probably damaging	1.00
R5689:Trim50	UTSW	5	135,382,516 (GRCm39)	missense	probably damaging	0.98
R6119:Trim50	UTSW	5	135,382,274 (GRCm39)	missense	probably benign
R6377:Trim50	UTSW	5	135,382,454 (GRCm39)	missense	probably benign	0.01
R7170:Trim50	UTSW	5	135,396,365 (GRCm39)	missense	probably benign
R7175:Trim50	UTSW	5	135,382,151 (GRCm39)	start codon destroyed	probably null	0.81
R7498:Trim50	UTSW	5	135,392,768 (GRCm39)	missense	probably benign	0.01
R7927:Trim50	UTSW	5	135,382,465 (GRCm39)	missense	probably benign
R7945:Trim50	UTSW	5	135,382,156 (GRCm39)	missense	probably benign
R8403:Trim50	UTSW	5	135,392,646 (GRCm39)	missense	probably damaging	1.00
R9117:Trim50	UTSW	5	135,382,537 (GRCm39)	missense	possibly damaging	0.67
R9648:Trim50	UTSW	5	135,395,475 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04