Mutagenetix > Incidental Mutation

Incidental Mutation 'R7170:Trim50'

558182

Institutional Source

Beutler Lab

Gene Symbol

Trim50

Ensembl Gene

ENSMUSG00000053388

Gene Name

tripartite motif-containing 50

Synonyms

MMRRC Submission

045332-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135382149-135396859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135396365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 438 (T438A)

Ref Sequence

ENSEMBL: ENSMUSP00000106811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000940] [ENSMUST00000065785] [ENSMUST00000111180] [ENSMUST00000170342]

AlphaFold

Q810I2

Predicted Effect

probably benign
Transcript: ENSMUST00000000940

SMART Domains

Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	180	189	N/A	INTRINSIC
Pfam:Nol1_Nop2_Fmu	219	423	1.1e-32	PFAM
low complexity region	448	454	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065785
AA Change: T437A

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

SMART Domains

Protein: ENSMUSP00000066662
Gene: ENSMUSG00000053388
AA Change: T437A

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: T438A

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

SMART Domains

Protein: ENSMUSP00000106811
Gene: ENSMUSG00000053388
AA Change: T438A

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: ENSMUST00000170342

SMART Domains

Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	76	91	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202422

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,836,654 (GRCm39)	T1214A	probably benign	Het
Acte1	T	C	7: 143,450,102 (GRCm39)	S285P	probably damaging	Het
Adgrf5	G	A	17: 43,757,029 (GRCm39)	V708M	possibly damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ankrd7	T	A	6: 18,868,389 (GRCm39)	Y170*	probably null	Het
Aplp2	T	C	9: 31,081,739 (GRCm39)	D236G	probably benign	Het
Apoa5	T	C	9: 46,181,437 (GRCm39)	M171T	probably benign	Het
Bcas3	T	C	11: 85,386,744 (GRCm39)	V393A	probably damaging	Het
Ccdc47	T	C	11: 106,093,304 (GRCm39)	N370S	probably benign	Het
Cfap77	A	T	2: 28,875,854 (GRCm39)	Y85*	probably null	Het
Col4a3	G	A	1: 82,693,630 (GRCm39)		probably null	Het
Crnn	T	A	3: 93,056,020 (GRCm39)	S269T	possibly damaging	Het
Crocc2	G	A	1: 93,121,704 (GRCm39)	A618T	possibly damaging	Het
D030056L22Rik	A	G	19: 18,690,737 (GRCm39)	K17R	possibly damaging	Het
Emx1	G	A	6: 85,164,983 (GRCm39)	G20D	probably benign	Het
Fabp3	A	G	4: 130,207,763 (GRCm39)	D88G	probably benign	Het
Fam124a	A	C	14: 62,824,629 (GRCm39)	D41A	probably damaging	Het
Fanca	T	C	8: 123,997,945 (GRCm39)	E1247G	probably damaging	Het
Fat3	T	C	9: 15,917,870 (GRCm39)	R1518G	probably damaging	Het
Fgf12	T	C	16: 28,263,931 (GRCm39)	I5V	probably benign	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Ftdc1	G	T	16: 58,436,091 (GRCm39)	C77*	probably null	Het
Fubp3	A	G	2: 31,488,632 (GRCm39)	T163A	probably benign	Het
Gask1a	G	T	9: 121,807,301 (GRCm39)	A482S	probably damaging	Het
Gne	A	G	4: 44,040,361 (GRCm39)	L601P	possibly damaging	Het
Gphn	T	C	12: 78,730,663 (GRCm39)	V766A	possibly damaging	Het
Hsf1	G	T	15: 76,384,221 (GRCm39)	G402C	probably damaging	Het
Ift81	A	T	5: 122,693,596 (GRCm39)	Y604*	probably null	Het
Iqgap3	T	A	3: 88,009,370 (GRCm39)	I768N	probably damaging	Het
Kazald1	A	T	19: 45,066,855 (GRCm39)	D218V	probably benign	Het
Kmt2a	T	C	9: 44,722,018 (GRCm39)	N3776D	unknown	Het
Ktn1	T	C	14: 47,943,867 (GRCm39)	L872S	probably damaging	Het
Lama3	T	G	18: 12,537,133 (GRCm39)	F259L	probably benign	Het
Mfsd6	A	G	1: 52,701,547 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,950,694 (GRCm39)		probably null	Het
Mob3b	A	G	4: 35,083,839 (GRCm39)	Y117H	probably damaging	Het
Mrpl2	G	A	17: 46,959,181 (GRCm39)	G95D	probably damaging	Het
Mstn	A	T	1: 53,105,554 (GRCm39)	I299F	probably damaging	Het
Mta3	C	T	17: 84,022,091 (GRCm39)	R49W	probably damaging	Het
Mylk3	A	G	8: 86,077,114 (GRCm39)	F574L	probably damaging	Het
Naca	T	A	10: 127,875,990 (GRCm39)	S341T	unknown	Het
Ncoa1	T	C	12: 4,299,722 (GRCm39)	D1401G	probably benign	Het
Nedd4	T	A	9: 72,577,381 (GRCm39)	Y69N	probably benign	Het
Nin	T	C	12: 70,091,013 (GRCm39)	T801A		Het
Nsd1	T	A	13: 55,409,439 (GRCm39)	L1336*	probably null	Het
Nudt16l2	C	A	9: 105,020,600 (GRCm39)		probably null	Het
Oprk1	G	A	1: 5,672,619 (GRCm39)	R252H	probably damaging	Het
Or4c10b	A	T	2: 89,711,397 (GRCm39)	T76S	possibly damaging	Het
Or4c10b	A	G	2: 89,711,185 (GRCm39)	N5S	probably benign	Het
Or5w15	C	T	2: 87,568,056 (GRCm39)	G204D	probably damaging	Het
Pcdhga11	T	C	18: 37,889,717 (GRCm39)	F242L	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pold1	T	C	7: 44,191,572 (GRCm39)	H138R	possibly damaging	Het
Ptprd	A	T	4: 75,990,199 (GRCm39)	D504E	probably benign	Het
Rabgap1l	A	G	1: 160,472,935 (GRCm39)	V501A	probably damaging	Het
Rimklb	T	C	6: 122,429,697 (GRCm39)	N233S	probably benign	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Rora	T	A	9: 69,280,472 (GRCm39)	C348*	probably null	Het
Sdhaf3	T	C	6: 6,956,043 (GRCm39)	V6A	probably benign	Het
Serpina3m	T	A	12: 104,355,777 (GRCm39)	L148Q	probably damaging	Het
Sik1	T	C	17: 32,067,746 (GRCm39)	D443G	possibly damaging	Het
Sim2	A	G	16: 93,923,559 (GRCm39)	T366A	probably benign	Het
Slc32a1	T	C	2: 158,453,243 (GRCm39)	F28L	probably damaging	Het
Sorbs1	A	T	19: 40,314,573 (GRCm39)	Y746*	probably null	Het
Speer4b	T	A	5: 27,703,821 (GRCm39)	N106I	possibly damaging	Het
Sphkap	A	G	1: 83,243,706 (GRCm39)	S1269P	probably damaging	Het
Tcf4	T	C	18: 69,766,649 (GRCm39)	V205A	probably damaging	Het
Thsd7a	C	T	6: 12,352,090 (GRCm39)	R1035H		Het
Tmprss11c	A	T	5: 86,385,478 (GRCm39)		probably null	Het
Ttc21a	C	T	9: 119,774,607 (GRCm39)	P287L	probably damaging	Het
Ttc41	C	T	10: 86,549,367 (GRCm39)	S187L	probably benign	Het
Ttll3	C	T	6: 113,390,839 (GRCm39)	P807L	probably benign	Het
Ttn	A	C	2: 76,597,696 (GRCm39)	V19739G	probably benign	Het
Usp15	C	A	10: 123,007,100 (GRCm39)	C127F	probably damaging	Het
Vmn2r100	G	T	17: 19,752,233 (GRCm39)	A822S	probably benign	Het
Zan	A	T	5: 137,461,756 (GRCm39)	V1141D	unknown	Het
Zfp457	A	T	13: 67,442,241 (GRCm39)	C111*	probably null	Het
Zfp758	C	T	17: 22,594,116 (GRCm39)	Q201*	probably null	Het
Zkscan2	T	C	7: 123,099,030 (GRCm39)	E54G	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
R6119:Trim50	UTSW	5	135,382,274 (GRCm39)	missense	probably benign
R6377:Trim50	UTSW	5	135,382,454 (GRCm39)	missense	probably benign	0.01
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'- AGCTGAACAAGTCCCCAGAG -3'
(R):5'- TCTTTTCAAGCAGTCCAAACACTG -3'

Sequencing Primer
(F):5'- AAGTCCCCAGAGCACGGTG -3'
(R):5'- GGAAGCCCTCAAATCCCTTTG -3'

Posted On

2019-06-26