Mutagenetix > Incidental Mutation

Incidental Mutation 'R4085:Trim14'

317072

Institutional Source

Beutler Lab

Gene Symbol

Trim14

Ensembl Gene

ENSMUSG00000039853

Gene Name

tripartite motif-containing 14

Synonyms

5830400N10Rik

MMRRC Submission

040979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46505072-46536148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46523709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 110 (T110S)

Ref Sequence

ENSEMBL: ENSMUSP00000138876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046897] [ENSMUST00000102924] [ENSMUST00000184112]

AlphaFold

Q8BVW3

Predicted Effect

probably benign
Transcript: ENSMUST00000046897
AA Change: T110S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000038719
Gene: ENSMUSG00000039853
AA Change: T110S

Domain	Start	End	E-Value	Type
BBOX	17	59	1.84e-8	SMART
low complexity region	115	126	N/A	INTRINSIC
PRY	264	316	2.63e-13	SMART
SPRY	317	440	2.48e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102924
AA Change: T110S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099988
Gene: ENSMUSG00000039853
AA Change: T110S

Domain	Start	End	E-Value	Type
BBOX	17	59	1.84e-8	SMART
low complexity region	115	126	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142606

Predicted Effect

probably benign
Transcript: ENSMUST00000184112
AA Change: T110S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138876
Gene: ENSMUSG00000039853
AA Change: T110S

Domain	Start	End	E-Value	Type
BBOX	17	59	1.84e-8	SMART
low complexity region	115	126	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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 protein localizes to cytoplasmic bodies and its function has not been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abca15	T	C	7: 119,981,949 (GRCm39)	V1088A	probably damaging	Het
Adgrl3	A	G	5: 81,660,391 (GRCm39)	I319V	probably benign	Het
Atraid	A	T	5: 31,209,650 (GRCm39)		probably benign	Het
Aurkaip1	A	T	4: 155,917,362 (GRCm39)	K172N	probably benign	Het
Bicd2	T	A	13: 49,538,438 (GRCm39)		probably null	Het
Ccr1	C	T	9: 123,763,987 (GRCm39)	R181H	probably benign	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col4a4	C	A	1: 82,448,909 (GRCm39)		probably null	Het
Coro1b	T	C	19: 4,203,618 (GRCm39)	V451A	probably benign	Het
Dcc	T	A	18: 71,959,240 (GRCm39)	Q177H	probably benign	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Dynlrb1	G	T	2: 155,091,896 (GRCm39)		probably benign	Het
Ehbp1	A	T	11: 22,045,898 (GRCm39)	L592Q	possibly damaging	Het
Fam20b	T	C	1: 156,533,445 (GRCm39)	D57G	probably benign	Het
Fbxo33	A	G	12: 59,247,591 (GRCm39)		probably benign	Het
Fndc4	A	G	5: 31,451,121 (GRCm39)	I190T	probably damaging	Het
Gad1	G	T	2: 70,420,192 (GRCm39)	A359S	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm43517	A	G	12: 49,437,897 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,821,533 (GRCm39)	V1052D	possibly damaging	Het
Herc6	G	A	6: 57,624,054 (GRCm39)	C608Y	probably benign	Het
Itpr2	T	A	6: 146,045,746 (GRCm39)	D2573V	probably damaging	Het
Kank2	A	G	9: 21,706,415 (GRCm39)	L201P	probably damaging	Het
Kdm1a	A	C	4: 136,279,273 (GRCm39)	Y762*	probably null	Het
Mef2c	C	T	13: 83,723,821 (GRCm39)	T9M	probably damaging	Het
Ndst4	A	G	3: 125,403,131 (GRCm39)	I413V	probably benign	Het
Nlrp1b	T	C	11: 71,052,588 (GRCm39)	T947A	probably damaging	Het
Nlrp5	C	A	7: 23,129,523 (GRCm39)	N863K	probably damaging	Het
Opn1sw	A	G	6: 29,380,143 (GRCm39)	I91T	possibly damaging	Het
Or2y13	T	C	11: 49,414,955 (GRCm39)	I135T	probably benign	Het
Pmfbp1	A	G	8: 110,221,579 (GRCm39)	K15E	possibly damaging	Het
Ppp3cb	A	G	14: 20,558,611 (GRCm39)	C484R	possibly damaging	Het
Rassf2	C	A	2: 131,846,299 (GRCm39)	G153C	probably damaging	Het
Rbm15b	T	C	9: 106,762,936 (GRCm39)	N411D	possibly damaging	Het
Rbm47	A	G	5: 66,180,080 (GRCm39)	M409T	probably benign	Het
Sall1	C	T	8: 89,755,137 (GRCm39)	V1281M	probably benign	Het
Sall3	A	T	18: 81,015,348 (GRCm39)	M860K	probably damaging	Het
Sik2	A	T	9: 50,846,685 (GRCm39)		probably benign	Het
Sim2	A	G	16: 93,910,213 (GRCm39)	Y205C	possibly damaging	Het
Styxl1	G	A	5: 135,788,019 (GRCm39)	T92I	unknown	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Taok2	T	C	7: 126,473,897 (GRCm39)	E403G	possibly damaging	Het
Tedc2	A	T	17: 24,438,813 (GRCm39)	V168E	probably benign	Het
Tle6	A	G	10: 81,430,349 (GRCm39)		probably null	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Ucp1	T	C	8: 84,020,580 (GRCm39)	I130T	probably benign	Het
Urb2	A	G	8: 124,757,680 (GRCm39)	H1129R	probably benign	Het
Vmn2r111	C	T	17: 22,778,096 (GRCm39)	G528R	probably benign	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Xdh	A	T	17: 74,223,874 (GRCm39)	M506K	probably benign	Het

Other mutations in Trim14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0034:Trim14	UTSW	4	46,523,627 (GRCm39)	missense	probably damaging	0.99
R0310:Trim14	UTSW	4	46,522,043 (GRCm39)	missense	probably damaging	0.99
R1766:Trim14	UTSW	4	46,522,039 (GRCm39)	missense	probably benign	0.00
R3436:Trim14	UTSW	4	46,523,739 (GRCm39)	missense	possibly damaging	0.63
R3437:Trim14	UTSW	4	46,523,739 (GRCm39)	missense	possibly damaging	0.63
R4086:Trim14	UTSW	4	46,523,709 (GRCm39)	missense	probably benign	0.03
R4087:Trim14	UTSW	4	46,523,709 (GRCm39)	missense	probably benign	0.03
R4088:Trim14	UTSW	4	46,523,709 (GRCm39)	missense	probably benign	0.03
R4992:Trim14	UTSW	4	46,507,110 (GRCm39)	missense	probably damaging	1.00
R5408:Trim14	UTSW	4	46,507,134 (GRCm39)	missense	possibly damaging	0.63
R5943:Trim14	UTSW	4	46,522,136 (GRCm39)	missense	probably benign	0.01
R5979:Trim14	UTSW	4	46,507,239 (GRCm39)	missense	probably damaging	0.97
R6029:Trim14	UTSW	4	46,506,998 (GRCm39)	missense	probably benign	0.33
R6303:Trim14	UTSW	4	46,522,118 (GRCm39)	missense	probably benign	0.00
R6304:Trim14	UTSW	4	46,522,118 (GRCm39)	missense	probably benign	0.00
R6312:Trim14	UTSW	4	46,507,257 (GRCm39)	missense	probably damaging	1.00
R7671:Trim14	UTSW	4	46,507,238 (GRCm39)	missense	possibly damaging	0.89
R7996:Trim14	UTSW	4	46,533,086 (GRCm39)	missense	probably benign	0.04
R8370:Trim14	UTSW	4	46,523,711 (GRCm39)	missense	probably damaging	1.00
R9501:Trim14	UTSW	4	46,510,404 (GRCm39)	missense	unknown
Z1176:Trim14	UTSW	4	46,510,418 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGATGAGATGGGGTAGCCC -3'
(R):5'- TTTACGAGTGGCCTCTTGC -3'

Sequencing Primer
(F):5'- TACCTGCAGCAGCTGAACAGG -3'
(R):5'- GCTTTGAACAGCCACCTTG -3'

Posted On

2015-05-15