Mutagenetix > Incidental Mutation

Incidental Mutation 'R5408:Trim14'

426369

Institutional Source

Beutler Lab

Gene Symbol

Trim14

Ensembl Gene

ENSMUSG00000039853

Gene Name

tripartite motif-containing 14

Synonyms

5830400N10Rik

MMRRC Submission

042977-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5408 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

46505072-46536148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46507134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 361 (C361S)

Ref Sequence

ENSEMBL: ENSMUSP00000038719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030018] [ENSMUST00000046897] [ENSMUST00000102924] [ENSMUST00000184112]

AlphaFold

Q8BVW3

Predicted Effect

probably benign
Transcript: ENSMUST00000030018

SMART Domains

Protein: ENSMUSP00000030018
Gene: ENSMUSG00000028334

Domain	Start	End	E-Value	Type
Pfam:NeuB	39	278	4.7e-81	PFAM
SAF	292	351	2.38e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046897
AA Change: C361S

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038719
Gene: ENSMUSG00000039853
AA Change: C361S

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

SMART Domains

Protein: ENSMUSP00000099988
Gene: ENSMUSG00000039853

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

probably benign
Transcript: ENSMUST00000184112

SMART Domains

Protein: ENSMUSP00000138876
Gene: ENSMUSG00000039853

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

0.1821

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,054,979 (GRCm39)		noncoding transcript	Het
Actn2	T	C	13: 12,285,681 (GRCm39)	I837V	probably benign	Het
Adora1	T	A	1: 134,130,901 (GRCm39)	T257S	probably benign	Het
Akap9	T	A	5: 4,108,458 (GRCm39)	M2954K	possibly damaging	Het
Akr1c13	G	T	13: 4,244,715 (GRCm39)	A98S	probably benign	Het
Aldh2	C	T	5: 121,708,620 (GRCm39)		probably benign	Het
Ank1	A	G	8: 23,572,209 (GRCm39)	N48D	probably damaging	Het
Ash1l	A	G	3: 88,889,701 (GRCm39)	T527A	probably damaging	Het
Atp13a1	T	C	8: 70,249,490 (GRCm39)	V251A	probably benign	Het
Baz1a	A	T	12: 54,969,835 (GRCm39)	D608E	probably damaging	Het
Bend5	A	T	4: 111,311,280 (GRCm39)		probably null	Het
Blm	T	G	7: 80,152,370 (GRCm39)	T526P	probably benign	Het
Cacna1a	T	C	8: 85,276,336 (GRCm39)	V559A	probably damaging	Het
Cacna2d4	A	G	6: 119,325,752 (GRCm39)	D1042G	probably damaging	Het
Cadps	T	C	14: 12,705,759 (GRCm38)	H212R	possibly damaging	Het
Cdh3	T	C	8: 107,263,269 (GRCm39)	I106T	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Cfap68	T	C	9: 50,676,057 (GRCm39)	N87S	probably damaging	Het
Col16a1	A	T	4: 129,986,898 (GRCm39)		probably benign	Het
Dctn6	C	T	8: 34,562,056 (GRCm39)	V89I	possibly damaging	Het
Dgkz	C	A	2: 91,766,168 (GRCm39)	G798W	possibly damaging	Het
Epb41l2	A	T	10: 25,343,992 (GRCm39)		probably null	Het
Fam171a2	T	C	11: 102,328,344 (GRCm39)	K805R	possibly damaging	Het
Fam89b	G	T	19: 5,779,421 (GRCm39)	Y45*	probably null	Het
Fchsd2	A	G	7: 100,920,781 (GRCm39)	N462S	possibly damaging	Het
Fyco1	T	G	9: 123,658,568 (GRCm39)	H536P	probably damaging	Het
Galnt12	A	T	4: 47,104,169 (GRCm39)	E142D	probably damaging	Het
Gspt1	C	T	16: 11,071,719 (GRCm39)	G48D	probably benign	Het
H6pd	A	G	4: 150,067,322 (GRCm39)	S355P	probably damaging	Het
Hectd2	T	C	19: 36,532,296 (GRCm39)	V38A	possibly damaging	Het
Jup	C	T	11: 100,267,607 (GRCm39)	R572Q	probably damaging	Het
Kcng3	T	C	17: 83,938,434 (GRCm39)	D205G	probably benign	Het
Kif13b	A	T	14: 65,017,138 (GRCm39)		probably null	Het
Mapk3	A	G	7: 126,363,007 (GRCm39)	D253G	probably damaging	Het
Methig1	A	T	15: 100,281,635 (GRCm39)	Y253F	possibly damaging	Het
Mmp3	T	C	9: 7,449,904 (GRCm39)	S263P	probably damaging	Het
Mpo	T	A	11: 87,691,851 (GRCm39)		probably null	Het
Nbeal2	C	A	9: 110,466,588 (GRCm39)	G772W	possibly damaging	Het
Nr1d1	T	A	11: 98,661,087 (GRCm39)	H393L	probably benign	Het
Obscn	A	G	11: 58,942,437 (GRCm39)	V4915A	probably damaging	Het
Olfml2b	T	A	1: 170,472,545 (GRCm39)	W19R	probably damaging	Het
Or13p4	T	C	4: 118,547,641 (GRCm39)	T3A	probably benign	Het
Or56b1b	C	T	7: 108,164,376 (GRCm39)	A209T	probably damaging	Het
Padi6	G	A	4: 140,454,996 (GRCm39)	T647I	probably damaging	Het
Pcyox1	A	G	6: 86,369,280 (GRCm39)	L113S	probably damaging	Het
Pde4dip	T	A	3: 97,704,052 (GRCm39)	T192S	probably benign	Het
Pip4k2a	T	C	2: 18,911,119 (GRCm39)	H87R	probably benign	Het
Pkd1l3	C	A	8: 110,393,684 (GRCm39)	T2004N	probably damaging	Het
Prex1	CGTTGTTGTTGT	CGTTGTTGTTGTTGT	2: 166,417,573 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,002,599 (GRCm39)	T1563I	probably damaging	Het
Reg3b	T	C	6: 78,350,215 (GRCm39)	V165A	probably benign	Het
Rreb1	A	G	13: 38,115,320 (GRCm39)	D893G	probably benign	Het
Sap18	A	T	14: 58,039,431 (GRCm39)	M78L	probably benign	Het
Scaper	A	T	9: 55,493,508 (GRCm39)	F1226I	probably damaging	Het
Scyl3	A	T	1: 163,782,245 (GRCm39)		probably null	Het
Shoc2	A	G	19: 53,976,556 (GRCm39)	M149V	probably benign	Het
Slc7a2	G	A	8: 41,368,042 (GRCm39)	R602K	probably damaging	Het
Sox30	A	G	11: 45,882,694 (GRCm39)	I575V	possibly damaging	Het
Ttn	T	C	2: 76,731,272 (GRCm39)		probably benign	Het
Uncx	A	T	5: 139,530,245 (GRCm39)	K108*	probably null	Het
Usp54	A	T	14: 20,600,501 (GRCm39)	L1412Q	probably damaging	Het
Uty	A	G	Y: 1,245,614 (GRCm39)	V6A	possibly damaging	Het
Vmn1r30	C	T	6: 58,412,029 (GRCm39)	V268I	probably benign	Het
Wdsub1	T	C	2: 59,691,887 (GRCm39)		probably benign	Het
Wipf3	A	G	6: 54,458,896 (GRCm39)	I84V	probably benign	Het
Xcr1	T	A	9: 123,685,631 (GRCm39)	I44F	probably benign	Het
Zfp687	T	C	3: 94,916,586 (GRCm39)		probably benign	Het
Zfp729b	A	T	13: 67,739,563 (GRCm39)	S901T	probably benign	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het
Zswim9	T	C	7: 12,994,753 (GRCm39)	K468E	possibly damaging	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
R4085:Trim14	UTSW	4	46,523,709 (GRCm39)	missense	probably benign	0.03
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
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'- AACCTAGGGATGCTGATGGG -3'
(R):5'- AGGCTTTCTGACAGCTGTC -3'

Sequencing Primer
(F):5'- TGGATAGAGCGGCTCCTG -3'
(R):5'- GTCTGACAGTCCGCTGCTC -3'

Posted On

2016-09-01