Mutagenetix > Incidental Mutation

Incidental Mutation 'R6119:Trim50'

485650

Institutional Source

Beutler Lab

Gene Symbol

Trim50

Ensembl Gene

ENSMUSG00000053388

Gene Name

tripartite motif-containing 50

Synonyms

MMRRC Submission

044429-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6119 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

135382149-135396859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135382274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 42 (N42S)

Ref Sequence

ENSEMBL: ENSMUSP00000106811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044972] [ENSMUST00000065785] [ENSMUST00000111180] [ENSMUST00000201534] [ENSMUST00000201784] [ENSMUST00000201791]

AlphaFold

Q810I2

Predicted Effect

probably benign
Transcript: ENSMUST00000044972

SMART Domains

Protein: ENSMUSP00000043193
Gene: ENSMUSG00000040013

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	48	140	3.5e-20	PFAM
Blast:TPR	171	195	1e-7	BLAST
low complexity region	196	206	N/A	INTRINSIC
Pfam:TPR_2	220	252	3.3e-4	PFAM
Pfam:TPR_2	253	284	5.4e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065785
AA Change: N42S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388
AA Change: N42S

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

probably benign
Transcript: ENSMUST00000111180
AA Change: N42S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388
AA Change: N42S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201534

SMART Domains

Protein: ENSMUSP00000144471
Gene: ENSMUSG00000040013

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	48	140	3.5e-20	PFAM
Blast:TPR	171	195	1e-7	BLAST
low complexity region	196	206	N/A	INTRINSIC
Pfam:TPR_2	220	252	3.3e-4	PFAM
Pfam:TPR_2	253	284	5.4e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201784

SMART Domains

Protein: ENSMUSP00000144381
Gene: ENSMUSG00000040013

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	48	140	7.6e-20	PFAM
Blast:TPR	171	195	1e-7	BLAST
low complexity region	196	206	N/A	INTRINSIC
Pfam:TPR_2	220	252	1.3e-4	PFAM
Pfam:TPR_2	253	284	2.1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201791

SMART Domains

Protein: ENSMUSP00000144460
Gene: ENSMUSG00000040013

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	48	140	5.9e-20	PFAM
low complexity region	153	166	N/A	INTRINSIC
Pfam:TPR_2	180	212	1.1e-4	PFAM
Pfam:TPR_2	213	244	1.8e-4	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,265,138 (GRCm39)	R97*	probably null	Het
4930544D05Rik	G	A	11: 70,507,317 (GRCm39)	A121T	probably damaging	Het
Abtb2	A	T	2: 103,532,655 (GRCm39)	E484D	probably benign	Het
Ankk1	A	T	9: 49,338,183 (GRCm39)	W37R	possibly damaging	Het
Arhgap11a	C	A	2: 113,664,695 (GRCm39)	M529I	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
Ddx47	T	C	6: 135,000,318 (GRCm39)	I438T	probably benign	Het
Dnhd1	A	G	7: 105,358,647 (GRCm39)	T3379A	probably benign	Het
Dusp3	A	G	11: 101,871,495 (GRCm39)		probably benign	Het
Dync1h1	A	G	12: 110,594,440 (GRCm39)	K1289E	possibly damaging	Het
Egf	A	T	3: 129,530,421 (GRCm39)	I247N	probably benign	Het
Erich1	A	G	8: 14,083,692 (GRCm39)	L126P	probably benign	Het
Fat3	T	A	9: 16,287,864 (GRCm39)	H553L	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,740 (GRCm39)	L257P	probably damaging	Het
Gimap8	T	C	6: 48,635,888 (GRCm39)	I551T	possibly damaging	Het
Gnptab	C	A	10: 88,267,257 (GRCm39)	D449E	probably damaging	Het
Grb10	T	C	11: 11,883,551 (GRCm39)	D513G	probably damaging	Het
Grin1	T	G	2: 25,195,170 (GRCm39)	D283A	probably damaging	Het
Gtf2i	A	T	5: 134,315,911 (GRCm39)		probably null	Het
Ip6k3	A	G	17: 27,367,599 (GRCm39)	V199A	possibly damaging	Het
Kif17	T	A	4: 138,015,643 (GRCm39)	Y405*	probably null	Het
Lair1	T	C	7: 4,031,895 (GRCm39)	M71V	probably benign	Het
Mamdc2	G	A	19: 23,330,679 (GRCm39)	T376M	probably damaging	Het
Msra	G	A	14: 64,678,183 (GRCm39)	R38C	probably damaging	Het
Mthfd1	A	T	12: 76,350,447 (GRCm39)	I462F	probably damaging	Het
Nbr1	A	G	11: 101,457,938 (GRCm39)		probably null	Het
Neb	A	G	2: 52,110,943 (GRCm39)	M181T	probably benign	Het
Noxo1	A	G	17: 24,915,545 (GRCm39)		probably benign	Het
Optn	C	A	2: 5,026,134 (GRCm39)		probably null	Het
Or10ag58	A	T	2: 87,265,733 (GRCm39)	K301*	probably null	Het
Or4c103	A	G	2: 88,513,935 (GRCm39)	I47T	probably damaging	Het
Or5k17	A	T	16: 58,746,895 (GRCm39)	I13N	possibly damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Pclo	A	G	5: 14,727,033 (GRCm39)		probably benign	Het
Ppp1r16b	A	G	2: 158,593,047 (GRCm39)	I209V	probably benign	Het
Prss12	A	G	3: 123,283,258 (GRCm39)	I517V	possibly damaging	Het
Pwwp3a	A	G	10: 80,064,865 (GRCm39)	K32E	probably benign	Het
Ripor2	C	T	13: 24,798,627 (GRCm39)		probably benign	Het
Rmnd5b	A	G	11: 51,516,536 (GRCm39)	S274P	probably benign	Het
Sftpa1	T	A	14: 40,854,509 (GRCm39)	I32N	probably damaging	Het
Slc2a12	T	A	10: 22,541,246 (GRCm39)	I367N	probably damaging	Het
Sorcs1	T	C	19: 50,276,532 (GRCm39)	D340G	probably damaging	Het
Synj1	T	C	16: 90,735,877 (GRCm39)	K1359E	probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcf12	T	A	9: 71,775,547 (GRCm39)	E421V	probably damaging	Het
Tecta	A	T	9: 42,284,371 (GRCm39)	F905I	probably benign	Het
Tmem106a	T	A	11: 101,474,576 (GRCm39)	C58*	probably null	Het
Tmem131l	A	T	3: 83,805,689 (GRCm39)	F1585I	probably damaging	Het
Tnks2	T	C	19: 36,856,752 (GRCm39)	S208P	possibly damaging	Het
Tsc22d2	T	A	3: 58,367,674 (GRCm39)		probably benign	Het
Ttll3	T	A	6: 113,371,702 (GRCm39)	L23H	probably damaging	Het
Vmn1r10	A	G	6: 57,091,218 (GRCm39)	Y270C	probably benign	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp677	A	G	17: 21,618,070 (GRCm39)	T376A	possibly damaging	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
IGL01768:Trim50	APN	5	135,392,736 (GRCm39)	missense	possibly damaging	0.77
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGCTGGCATCCTTTTCTC -3'
(R):5'- TTTCTCGCAGAAGAGGCTG -3'

Sequencing Primer
(F):5'- TTTCAGCAGCCCTGGGG -3'
(R):5'- CAGAAGAGGCTGAGAGGGTTTC -3'

Posted On

2017-08-16