Mutagenetix > Incidental Mutation

Incidental Mutation 'R6476:Trim35'

516812

Institutional Source

Beutler Lab

Gene Symbol

Trim35

Ensembl Gene

ENSMUSG00000022043

Gene Name

tripartite motif-containing 35

Synonyms

A430106H13Rik, Hls5, Mair, 0710005M05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6476 (G1)

Quality Score

158.009

Status

Not validated

Chromosome

Chromosomal Location

66534480-66548873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66546244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 337 (T337M)

Ref Sequence

ENSEMBL: ENSMUSP00000022623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022623]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022623
AA Change: T337M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022623
Gene: ENSMUSG00000022043
AA Change: T337M

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	18	29	N/A	INTRINSIC
RING	36	75	6.89e-8	SMART
BBOX	111	152	1.27e-6	SMART
coiled coil region	219	267	N/A	INTRINSIC
PRY	316	367	4.41e-15	SMART
Pfam:SPRY	370	495	3.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121006

SMART Domains

Protein: ENSMUSP00000112877
Gene: ENSMUSG00000022043

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
RING	30	69	6.89e-8	SMART
BBOX	105	146	1.27e-6	SMART
coiled coil region	212	260	N/A	INTRINSIC
low complexity region	330	343	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	C	2: 154,892,699 (GRCm39)	V126A	probably benign	Het
Adamts20	T	C	15: 94,259,691 (GRCm39)	Q336R	probably benign	Het
Ankrd36	A	G	11: 5,578,753 (GRCm39)	T6A	probably benign	Het
Arhgap33	A	G	7: 30,223,837 (GRCm39)	S731P	probably damaging	Het
Arhgef10l	G	C	4: 140,338,693 (GRCm39)	P23R	probably damaging	Het
Atf7	T	C	15: 102,502,147 (GRCm39)	D3G	probably benign	Het
Caps2	A	G	10: 112,011,465 (GRCm39)	T30A	possibly damaging	Het
Ccdc15	A	T	9: 37,253,715 (GRCm39)	I191N	probably benign	Het
Cep170	A	T	1: 176,607,917 (GRCm39)	S180T	possibly damaging	Het
Chd1	G	A	17: 17,601,250 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,709,534 (GRCm39)	N1887K	unknown	Het
Csgalnact1	C	T	8: 68,913,761 (GRCm39)	S148N	probably damaging	Het
Csgalnact1	T	A	8: 68,913,762 (GRCm39)	S148C	probably damaging	Het
Dnah14	A	G	1: 181,572,333 (GRCm39)	E2888G	probably benign	Het
Dnah7b	T	A	1: 46,281,364 (GRCm39)	Y2808*	probably null	Het
Dock10	A	C	1: 80,518,959 (GRCm39)	L1254*	probably null	Het
Eml2	T	C	7: 18,930,236 (GRCm39)	V511A	probably benign	Het
Eml6	A	G	11: 29,741,971 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,977,755 (GRCm39)	D601Y	probably damaging	Het
Farsa	A	G	8: 85,583,809 (GRCm39)	E49G	probably damaging	Het
Fzd7	A	G	1: 59,523,154 (GRCm39)	M346V	probably damaging	Het
Gatd3a	T	C	10: 78,003,347 (GRCm39)	N102D	probably damaging	Het
Glg1	A	C	8: 111,926,806 (GRCm39)	S170A	possibly damaging	Het
Gpx3	A	T	11: 54,798,025 (GRCm39)	I54F	probably damaging	Het
H6pd	G	A	4: 150,067,184 (GRCm39)	H401Y	probably damaging	Het
Hspb8	A	G	5: 116,560,457 (GRCm39)	S28P	probably damaging	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Krt9	A	T	11: 100,081,640 (GRCm39)	D296E	probably damaging	Het
Lcor	C	T	19: 41,571,518 (GRCm39)	T237I	probably benign	Het
Lnx1	A	G	5: 74,768,541 (GRCm39)	V349A	possibly damaging	Het
Map3k6	A	T	4: 132,977,397 (GRCm39)	S915C	probably damaging	Het
Mecom	C	A	3: 30,034,717 (GRCm39)	A510S	possibly damaging	Het
Mettl14	A	G	3: 123,167,686 (GRCm39)	I224T	probably damaging	Het
Mme	T	C	3: 63,251,056 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,912,227 (GRCm39)	T1187S	probably benign	Het
Ndor1	T	C	2: 25,138,154 (GRCm39)	T444A	possibly damaging	Het
Nhlrc1	A	G	13: 47,167,657 (GRCm39)	L200P	possibly damaging	Het
Npc1	G	T	18: 12,334,751 (GRCm39)	S667*	probably null	Het
Nscme3l	A	C	19: 5,553,253 (GRCm39)	I176S	probably damaging	Het
Or14a256	C	T	7: 86,265,218 (GRCm39)	V212I	probably benign	Het
Or1l8	T	A	2: 36,817,595 (GRCm39)	H177L	possibly damaging	Het
Or4c109	T	A	2: 88,817,721 (GRCm39)	D275V	probably benign	Het
Or51d1	T	A	7: 102,348,310 (GRCm39)	N288K	possibly damaging	Het
Or5g9	T	A	2: 85,551,928 (GRCm39)	Y60N	probably damaging	Het
Pds5a	A	C	5: 65,791,630 (GRCm39)	I773R	possibly damaging	Het
Pgr	T	A	9: 8,964,839 (GRCm39)		probably null	Het
Plscr4	A	T	9: 92,372,819 (GRCm39)	M314L	probably benign	Het
Polr2m	A	G	9: 71,390,752 (GRCm39)	V46A	probably benign	Het
Ptk2b	T	A	14: 66,424,923 (GRCm39)	M174L	possibly damaging	Het
Sec31a	A	T	5: 100,534,008 (GRCm39)	F521I	probably benign	Het
Serpinb3d	T	C	1: 107,011,071 (GRCm39)	N47S	probably benign	Het
Shld2	T	C	14: 33,989,971 (GRCm39)	S312G	probably benign	Het
Slc24a3	T	A	2: 145,448,750 (GRCm39)	D431E	probably benign	Het
Slc34a1	C	A	13: 23,996,569 (GRCm39)	H25N	probably damaging	Het
Slc9a9	T	C	9: 94,567,191 (GRCm39)	F87L	probably benign	Het
Spata31	T	A	13: 65,065,456 (GRCm39)	S54T	possibly damaging	Het
Spata6	T	C	4: 111,632,020 (GRCm39)	S144P	probably damaging	Het
Sppl2c	A	G	11: 104,077,595 (GRCm39)	N132D	probably benign	Het
Ssu2	C	T	6: 112,351,793 (GRCm39)	G311S	probably damaging	Het
Syne1	T	A	10: 5,104,531 (GRCm39)	Q6328L	possibly damaging	Het
Tie1	T	C	4: 118,330,062 (GRCm39)	T1054A	possibly damaging	Het
Tnfaip6	T	G	2: 51,942,328 (GRCm39)	D212E	probably benign	Het
Tnxb	A	G	17: 34,909,166 (GRCm39)	T1442A	probably damaging	Het
Vipr1	T	C	9: 121,498,489 (GRCm39)	V413A	probably benign	Het
Vmn1r19	C	G	6: 57,381,578 (GRCm39)	Q44E	probably damaging	Het
Zfp1002	T	C	2: 150,097,246 (GRCm39)	D61G	probably benign	Het
Zfp266	G	T	9: 20,410,577 (GRCm39)	H533Q	probably damaging	Het
Zfp689	T	C	7: 127,043,896 (GRCm39)	S245G	probably damaging	Het

Other mutations in Trim35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01652:Trim35	APN	14	66,546,250 (GRCm39)	missense	probably damaging	1.00
IGL02398:Trim35	APN	14	66,546,697 (GRCm39)	missense	probably damaging	1.00
IGL03132:Trim35	APN	14	66,546,595 (GRCm39)	missense	probably damaging	1.00
R0759:Trim35	UTSW	14	66,546,236 (GRCm39)	missense	probably benign	0.02
R0799:Trim35	UTSW	14	66,546,650 (GRCm39)	missense	probably damaging	1.00
R0848:Trim35	UTSW	14	66,546,574 (GRCm39)	missense	probably benign	0.01
R1170:Trim35	UTSW	14	66,546,248 (GRCm39)	missense	probably benign	0.35
R1734:Trim35	UTSW	14	66,546,778 (GRCm39)	missense	probably damaging	0.99
R1751:Trim35	UTSW	14	66,541,617 (GRCm39)	missense	probably damaging	0.97
R1767:Trim35	UTSW	14	66,541,617 (GRCm39)	missense	probably damaging	0.97
R2259:Trim35	UTSW	14	66,546,711 (GRCm39)	nonsense	probably null
R3963:Trim35	UTSW	14	66,541,503 (GRCm39)	missense	probably damaging	1.00
R4572:Trim35	UTSW	14	66,545,322 (GRCm39)	missense	probably damaging	1.00
R5068:Trim35	UTSW	14	66,546,421 (GRCm39)	unclassified	probably benign
R5069:Trim35	UTSW	14	66,546,421 (GRCm39)	unclassified	probably benign
R5070:Trim35	UTSW	14	66,546,421 (GRCm39)	unclassified	probably benign
R5372:Trim35	UTSW	14	66,534,715 (GRCm39)	missense	possibly damaging	0.69
R5886:Trim35	UTSW	14	66,541,503 (GRCm39)	missense	probably damaging	1.00
R5886:Trim35	UTSW	14	66,541,502 (GRCm39)	missense	possibly damaging	0.92
R6018:Trim35	UTSW	14	66,546,199 (GRCm39)	missense	probably damaging	1.00
R6165:Trim35	UTSW	14	66,546,654 (GRCm39)	missense	probably damaging	1.00
R6326:Trim35	UTSW	14	66,540,653 (GRCm39)	missense	possibly damaging	0.52
R7084:Trim35	UTSW	14	66,546,271 (GRCm39)	missense	probably damaging	0.98
R7192:Trim35	UTSW	14	66,534,895 (GRCm39)	missense	probably damaging	1.00
R7350:Trim35	UTSW	14	66,546,654 (GRCm39)	missense	probably damaging	1.00
R7546:Trim35	UTSW	14	66,540,696 (GRCm39)	missense	probably benign	0.02
R7644:Trim35	UTSW	14	66,534,546 (GRCm39)	missense	unknown
R7916:Trim35	UTSW	14	66,546,309 (GRCm39)	missense	probably damaging	1.00
R8406:Trim35	UTSW	14	66,534,724 (GRCm39)	missense	possibly damaging	0.91
R8524:Trim35	UTSW	14	66,544,493 (GRCm39)	missense	probably damaging	1.00
R8710:Trim35	UTSW	14	66,545,367 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCTGCCTTGGTTGGTTAAATG -3'
(R):5'- CCTGAGCGTGTATCATGGTAG -3'

Sequencing Primer
(F):5'- GAGGTAGTTTGGCCTATACTACCC -3'
(R):5'- AGCGTGTATCATGGTAGCAGCTG -3'

Posted On

2018-05-21