Mutagenetix > Incidental Mutation

Incidental Mutation 'R7996:Trim14'

616076

Institutional Source

Beutler Lab

Gene Symbol

Trim14

Ensembl Gene

ENSMUSG00000039853

Gene Name

tripartite motif-containing 14

Synonyms

5830400N10Rik

MMRRC Submission

046036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46505072-46536148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46533086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 76 (C76S)

Ref Sequence

ENSEMBL: ENSMUSP00000038719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030021] [ENSMUST00000046897] [ENSMUST00000102924] [ENSMUST00000107756] [ENSMUST00000107757] [ENSMUST00000184112]

AlphaFold

Q8BVW3

Predicted Effect

probably benign
Transcript: ENSMUST00000030021

SMART Domains

Protein: ENSMUSP00000030021
Gene: ENSMUSG00000028337

Domain	Start	End	E-Value	Type
DUF1899	5	69	3.93e-33	SMART
WD40	68	111	2.04e-5	SMART
WD40	121	161	1.58e-2	SMART
WD40	169	208	2.55e-6	SMART
DUF1900	261	397	9.15e-84	SMART
coiled coil region	488	521	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000046897
AA Change: C76S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038719
Gene: ENSMUSG00000039853
AA Change: C76S

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: C76S

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099988
Gene: ENSMUSG00000039853
AA Change: C76S

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: ENSMUST00000107756

SMART Domains

Protein: ENSMUSP00000103385
Gene: ENSMUSG00000028337

Domain	Start	End	E-Value	Type
DUF1899	5	69	3.93e-33	SMART
WD40	68	111	2.04e-5	SMART
WD40	121	161	1.58e-2	SMART
WD40	169	208	2.55e-6	SMART
DUF1900	261	397	9.15e-84	SMART
coiled coil region	488	521	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107757

SMART Domains

Protein: ENSMUSP00000103386
Gene: ENSMUSG00000028337

Domain	Start	End	E-Value	Type
DUF1899	24	88	3.93e-33	SMART
WD40	87	130	2.04e-5	SMART
WD40	140	180	1.58e-2	SMART
WD40	188	227	2.55e-6	SMART
DUF1900	280	416	9.15e-84	SMART
coiled coil region	507	540	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184112
AA Change: C76S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138876
Gene: ENSMUSG00000039853
AA Change: C76S

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: 99.7%
20x: 99.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,977,490 (GRCm39)	N394K	probably damaging	Het
Amotl1	T	C	9: 14,505,001 (GRCm39)	D69G	possibly damaging	Het
Arid5a	G	T	1: 36,356,526 (GRCm39)	C121F	unknown	Het
Ccne2	C	A	4: 11,201,347 (GRCm39)	Q292K	probably benign	Het
Cfap70	A	G	14: 20,459,194 (GRCm39)	I723T	probably benign	Het
Chrnd	A	G	1: 87,118,828 (GRCm39)	T62A	probably damaging	Het
Cobll1	T	A	2: 64,981,329 (GRCm39)	H87L	possibly damaging	Het
Derl1	T	G	15: 57,741,970 (GRCm39)	M122L	probably benign	Het
Dnah5	T	A	15: 28,409,323 (GRCm39)	N3580K	probably damaging	Het
Efcab12	T	C	6: 115,800,378 (GRCm39)	Q215R	probably benign	Het
Eif3m	T	C	2: 104,831,694 (GRCm39)	N289D	probably benign	Het
Elapor2	A	C	5: 9,512,881 (GRCm39)	K958N	probably damaging	Het
Emsy	T	A	7: 98,242,888 (GRCm39)	I1084L	probably benign	Het
Garin3	T	C	11: 46,295,889 (GRCm39)	V87A		Het
Garre1	G	T	7: 33,963,024 (GRCm39)	T216K	possibly damaging	Het
Gm3336	A	T	8: 71,173,146 (GRCm39)	T53S	unknown	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Hr	G	A	14: 70,801,043 (GRCm39)	W676*	probably null	Het
Katnb1	A	T	8: 95,824,643 (GRCm39)	I546F	possibly damaging	Het
Memo1	A	T	17: 74,565,491 (GRCm39)	L24Q	probably damaging	Het
Mmel1	C	G	4: 154,976,912 (GRCm39)	Q529E	probably benign	Het
Naip5	A	G	13: 100,358,164 (GRCm39)	F1024S	probably damaging	Het
Or4c58	T	C	2: 89,674,759 (GRCm39)	D186G	probably benign	Het
Or7c70	A	T	10: 78,683,155 (GRCm39)	V198E	probably damaging	Het
Paics	A	G	5: 77,107,276 (GRCm39)	K110R	probably benign	Het
Pate13	G	A	9: 35,820,650 (GRCm39)	R34H	probably damaging	Het
Pcdhgc4	C	T	18: 37,950,459 (GRCm39)	S625F	probably damaging	Het
Pnpla8	T	A	12: 44,329,766 (GRCm39)	L106*	probably null	Het
Rabggtb	T	C	3: 153,617,605 (GRCm39)	H31R	probably damaging	Het
Rhot1	G	A	11: 80,148,363 (GRCm39)	C601Y	probably damaging	Het
Rps27	A	G	3: 90,120,309 (GRCm39)	V53A	probably benign	Het
Sdr39u1	C	A	14: 56,135,344 (GRCm39)	G200*	probably null	Het
Sesn1	T	A	10: 41,770,929 (GRCm39)	Y153*	probably null	Het
Slc25a40	A	G	5: 8,493,653 (GRCm39)	T168A	probably damaging	Het
Smoc2	C	T	17: 14,595,730 (GRCm39)	R286*	probably null	Het
Smtnl2	T	A	11: 72,291,200 (GRCm39)	K349N	probably damaging	Het
Snx16	G	T	3: 10,500,509 (GRCm39)	D153E	probably benign	Het
Spata31e5	C	T	1: 28,817,487 (GRCm39)	E182K	probably damaging	Het
Ssu72	A	C	4: 155,816,450 (GRCm39)	N144T	probably benign	Het
Stk40	C	A	4: 126,030,667 (GRCm39)	L296I	probably damaging	Het
Sult3a2	T	C	10: 33,644,254 (GRCm39)	M225V	probably damaging	Het
Syne2	T	C	12: 76,051,441 (GRCm39)	L4057P	probably damaging	Het
Tbx2	A	G	11: 85,725,616 (GRCm39)	H189R	probably damaging	Het
Tead1	T	C	7: 112,441,311 (GRCm39)		probably null	Het
Tgs1	T	C	4: 3,605,842 (GRCm39)	S786P	probably damaging	Het
Tmco4	T	C	4: 138,748,172 (GRCm39)	Y251H	probably damaging	Het
Tubgcp6	T	A	15: 88,993,231 (GRCm39)	Q506L	possibly damaging	Het
Vmn2r50	A	T	7: 9,781,795 (GRCm39)	F317I	probably damaging	Het
Vwa5a	T	A	9: 38,639,124 (GRCm39)	Y335*	probably null	Het
Zgrf1	C	T	3: 127,389,573 (GRCm39)	T1257I	possibly damaging	Het
Zpr1	A	G	9: 46,184,863 (GRCm39)	N87D	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
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
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'- GACCCTTTAAGTCATGGGTGC -3'
(R):5'- AGAATTCAGTGCAGCGGTG -3'

Sequencing Primer
(F):5'- TGGGTGCTCCAAATCCTACCAG -3'
(R):5'- CAGTGCAGCGGTGGGTTAG -3'

Posted On

2020-01-23