Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:Trim14'

592151

Institutional Source

Beutler Lab

Gene Symbol

Trim14

Ensembl Gene

ENSMUSG00000039853

Gene Name

tripartite motif-containing 14

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46493781-46536141 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46507238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 326 (V326A)

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: V326A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038719
Gene: ENSMUSG00000039853
AA Change: V326A

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	C	A	7: 75,569,900 (GRCm38)	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986 (GRCm38)	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167 (GRCm38)	L219P	probably benign	Het
Bltp1	T	C	3: 36,943,231 (GRCm38)	F1146L	probably damaging	Het
Boc	C	T	16: 44,491,849 (GRCm38)	V617M		Het
Ccl8	A	G	11: 82,115,207 (GRCm38)		probably benign	Het
Col18a1	A	G	10: 77,085,383 (GRCm38)	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086 (GRCm38)		probably null	Het
Cryba4	A	C	5: 112,248,173 (GRCm38)		probably null	Het
Csf2rb	A	G	15: 78,338,930 (GRCm38)	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016 (GRCm38)	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848 (GRCm38)	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030 (GRCm38)	N78K	unknown	Het
Dele1	T	A	18: 38,259,925 (GRCm38)	I394N	probably damaging	Het
Efr3a	G	A	15: 65,837,434 (GRCm38)		probably null	Het
Elp4	G	T	2: 105,904,481 (GRCm38)	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910 (GRCm38)	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490 (GRCm38)	Y2C	probably damaging	Het
Fam81b	G	T	13: 76,271,294 (GRCm38)	L46I	possibly damaging	Het
Fam81b	A	C	13: 76,271,293 (GRCm38)	L46R	probably damaging	Het
Fbxo15	T	A	18: 84,964,153 (GRCm38)	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980 (GRCm38)	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852 (GRCm38)	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276 (GRCm38)	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119 (GRCm38)	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517 (GRCm38)	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543 (GRCm38)	S529I	unknown	Het
Leo1	A	G	9: 75,445,562 (GRCm38)	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349 (GRCm38)	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569 (GRCm38)	S472P	probably benign	Het
Med27	T	A	2: 29,377,938 (GRCm38)	V33D		Het
Mgat4f	T	C	1: 134,390,062 (GRCm38)	C191R	probably benign	Het
Mup15	C	T	4: 61,438,289 (GRCm38)	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420 (GRCm38)	R199H		Het
Nebl	T	A	2: 17,390,916 (GRCm38)	R558*	probably null	Het
Or10ak8	A	T	4: 118,916,986 (GRCm38)	H160Q	probably benign	Het
Or11g7	G	T	14: 50,453,885 (GRCm38)	V278L	probably benign	Het
Or12e9	A	G	2: 87,372,269 (GRCm38)	T246A	probably damaging	Het
Or4a79	A	T	2: 89,721,259 (GRCm38)	I284K	probably damaging	Het
Or5p78	T	C	7: 108,612,991 (GRCm38)	I228T	probably damaging	Het
Or6c217	T	C	10: 129,902,353 (GRCm38)	D119G	probably damaging	Het
Or8b41	A	T	9: 38,143,440 (GRCm38)	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353 (GRCm38)	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661 (GRCm38)	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547 (GRCm38)	R366H	not run	Het
Sgce	T	C	6: 4,691,564 (GRCm38)	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460 (GRCm38)	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262 (GRCm38)	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875 (GRCm38)	H150Q		Het
Slc5a4a	T	A	10: 76,147,550 (GRCm38)	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000 (GRCm38)	D134V	probably damaging	Het
Tex55	C	T	16: 38,828,091 (GRCm38)	D219N	possibly damaging	Het
Thbs3	T	A	3: 89,216,707 (GRCm38)	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174 (GRCm38)	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698 (GRCm38)	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644 (GRCm38)	V27F	probably damaging	Het

Other mutations in Trim14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0034:Trim14	UTSW	4	46,523,627 (GRCm38)	missense	probably damaging	0.99
R0310:Trim14	UTSW	4	46,522,043 (GRCm38)	missense	probably damaging	0.99
R1766:Trim14	UTSW	4	46,522,039 (GRCm38)	missense	probably benign	0.00
R3436:Trim14	UTSW	4	46,523,739 (GRCm38)	missense	possibly damaging	0.63
R3437:Trim14	UTSW	4	46,523,739 (GRCm38)	missense	possibly damaging	0.63
R4085:Trim14	UTSW	4	46,523,709 (GRCm38)	missense	probably benign	0.03
R4086:Trim14	UTSW	4	46,523,709 (GRCm38)	missense	probably benign	0.03
R4087:Trim14	UTSW	4	46,523,709 (GRCm38)	missense	probably benign	0.03
R4088:Trim14	UTSW	4	46,523,709 (GRCm38)	missense	probably benign	0.03
R4992:Trim14	UTSW	4	46,507,110 (GRCm38)	missense	probably damaging	1.00
R5408:Trim14	UTSW	4	46,507,134 (GRCm38)	missense	possibly damaging	0.63
R5943:Trim14	UTSW	4	46,522,136 (GRCm38)	missense	probably benign	0.01
R5979:Trim14	UTSW	4	46,507,239 (GRCm38)	missense	probably damaging	0.97
R6029:Trim14	UTSW	4	46,506,998 (GRCm38)	missense	probably benign	0.33
R6303:Trim14	UTSW	4	46,522,118 (GRCm38)	missense	probably benign	0.00
R6304:Trim14	UTSW	4	46,522,118 (GRCm38)	missense	probably benign	0.00
R6312:Trim14	UTSW	4	46,507,257 (GRCm38)	missense	probably damaging	1.00
R7996:Trim14	UTSW	4	46,533,086 (GRCm38)	missense	probably benign	0.04
R8370:Trim14	UTSW	4	46,523,711 (GRCm38)	missense	probably damaging	1.00
R9501:Trim14	UTSW	4	46,510,404 (GRCm38)	missense	unknown
Z1176:Trim14	UTSW	4	46,510,418 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCGTAGAAGGCCAGAATGC -3'
(R):5'- AGGCTTTCTGACAGCTGTC -3'

Sequencing Primer
(F):5'- TCGTAGTCCAGGAAGACGC -3'
(R):5'- TACGCCAACGCTGGACC -3'

Posted On

2019-11-12