Mutagenetix > Incidental Mutation

Incidental Mutation 'R9275:Trim34a'

703223

Institutional Source

Beutler Lab

Gene Symbol

Trim34a

Ensembl Gene

ENSMUSG00000056144

Gene Name

tripartite motif-containing 34A

Synonyms

Trim34-1, Trim34

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R9275 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104244457-104262234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104260994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 334 (N334K)

Ref Sequence

ENSEMBL: ENSMUSP00000055058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051795] [ENSMUST00000060315] [ENSMUST00000098179] [ENSMUST00000106848] [ENSMUST00000106849]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051795

SMART Domains

Protein: ENSMUSP00000050084
Gene: ENSMUSG00000060441

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
coiled coil region	172	232	N/A	INTRINSIC
Pfam:SPRY	349	485	9.2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060315
AA Change: N334K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144
AA Change: N334K

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	347	474	1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098179

SMART Domains

Protein: ENSMUSP00000095781
Gene: ENSMUSG00000060441

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
Pfam:SPRY	351	493	1.6e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106848
AA Change: N334K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144
AA Change: N334K

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	345	484	6.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106849
AA Change: N334K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144
AA Change: N334K

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	345	484	6.5e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,464,282	Y249H	probably damaging	Het
AF067063	T	C	13: 119,828,457	S68G	possibly damaging	Het
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Akap11	C	A	14: 78,513,709	V413F		Het
Ank3	T	C	10: 69,986,832	S444P	probably damaging	Het
Ankrd12	C	T	17: 66,037,604	E91K	possibly damaging	Het
Arhgap10	A	G	8: 77,411,036	S309P	probably damaging	Het
Arpc2	C	A	1: 74,236,882	F19L	probably benign	Het
Atp5a1	C	T	18: 77,781,297	T457I	probably damaging	Het
Bsn	C	T	9: 108,111,620	R2311H	probably damaging	Het
C1ra	A	G	6: 124,517,424	T277A	probably benign	Het
Celsr3	C	G	9: 108,838,490	L2124V	probably benign	Het
Cenpv	T	C	11: 62,525,163	*253W	probably null	Het
Cfap54	A	T	10: 93,039,186	V479E	possibly damaging	Het
Cmpk2	A	T	12: 26,469,569	Y73F	probably benign	Het
Cpne2	T	C	8: 94,555,015	I226T	possibly damaging	Het
Cyp2c67	C	T	19: 39,609,255	R433Q	probably damaging	Het
Dagla	A	G	19: 10,254,856	Y489H	probably damaging	Het
Dennd4a	C	A	9: 64,842,624	P166T	probably damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Enpp2	C	T	15: 54,850,088	R658Q	probably benign	Het
Gm10521	G	A	1: 171,896,463	V114I	unknown	Het
Gm7534	A	G	4: 134,195,459	L521P	probably damaging	Het
H2-T24	T	A	17: 36,017,384	E69V	probably damaging	Het
H6pd	T	A	4: 149,995,850	K179N	probably damaging	Het
Hsf2bp	C	T	17: 31,987,362	W265*	probably null	Het
Igfn1	C	A	1: 135,973,447	R431L	probably damaging	Het
Kcng2	T	C	18: 80,295,859	S405G	possibly damaging	Het
Leng9	T	C	7: 4,148,448	T410A	probably benign	Het
Lrp1b	T	C	2: 40,597,064	Y4557C		Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mlkl	A	G	8: 111,316,423	V364A	probably benign	Het
Mns1	T	A	9: 72,449,225	F254Y	probably benign	Het
Naip1	T	A	13: 100,426,176	N827I	probably damaging	Het
Neb	C	T	2: 52,256,178	R2929H	probably damaging	Het
Olfr1025-ps1	A	G	2: 85,918,702	Y259C	probably benign	Het
Olfr111	T	A	17: 37,530,928	M317K	probably benign	Het
Pde10a	A	G	17: 8,981,656	*797W	probably null	Het
Pirb	T	G	7: 3,716,860	H429P	probably benign	Het
Plbd1	A	G	6: 136,617,288	L321P	probably damaging	Het
Pmfbp1	A	G	8: 109,535,839	I722V	probably benign	Het
Polr2b	A	G	5: 77,323,638	R274G	probably damaging	Het
Prune2	C	T	19: 17,123,780	T2216I	probably benign	Het
Psma3	A	T	12: 70,994,382	D252V	probably benign	Het
Ptpn1	C	T	2: 167,974,256	T230I	probably damaging	Het
Rhpn1	T	C	15: 75,713,271	V519A	possibly damaging	Het
Rnf213	T	C	11: 119,435,942	V1586A		Het
Rrp36	T	A	17: 46,672,380	K103*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Ryr2	T	C	13: 11,883,090	T140A	probably benign	Het
Scn1a	T	A	2: 66,299,682	Y243F	probably damaging	Het
Sdk1	A	G	5: 141,956,198	T534A	possibly damaging	Het
Slc27a5	T	C	7: 12,997,713	D117G	probably damaging	Het
Slc2a1	A	T	4: 119,133,410	E246D	probably benign	Het
Smpd2	T	C	10: 41,487,689	D289G	probably benign	Het
Spag6	A	C	2: 18,699,174	E11A	probably benign	Het
Stard3	G	A	11: 98,372,105		probably benign	Het
Tcf19	A	G	17: 35,515,002	V86A	probably damaging	Het
Tigit	A	T	16: 43,659,470	M154K	probably benign	Het
Tsen15	T	C	1: 152,383,347	I87V	probably damaging	Het
Ttn	A	T	2: 76,907,874	M4153K	unknown	Het
Uchl3	A	T	14: 101,668,527		probably null	Het
Usp1	A	G	4: 98,931,341	K347E	probably damaging	Het
Vmn1r73	T	C	7: 11,756,552	M99T	probably benign	Het
Vmn2r20	A	G	6: 123,385,435	W797R	probably damaging	Het
Vwa7	A	G	17: 35,019,736	T267A	probably damaging	Het

Other mutations in Trim34a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Trim34a	APN	7	104261331	missense	probably damaging	1.00
IGL00826:Trim34a	APN	7	104260933	splice site	probably null
IGL01526:Trim34a	APN	7	104260499	missense	probably damaging	1.00
IGL01859:Trim34a	APN	7	104260942	missense	probably damaging	0.96
IGL02052:Trim34a	APN	7	104247831	missense	probably benign	0.33
IGL02192:Trim34a	APN	7	104247732	start codon destroyed	probably null	1.00
IGL02351:Trim34a	APN	7	104261234	nonsense	probably null
IGL02358:Trim34a	APN	7	104261234	nonsense	probably null
IGL03326:Trim34a	APN	7	104261380	missense	probably benign	0.03
IGL03366:Trim34a	APN	7	104260933	splice site	probably null
Gold_belt	UTSW	7	104261064	nonsense	probably null
PIT4472001:Trim34a	UTSW	7	104247948	missense	probably damaging	1.00
PIT4791001:Trim34a	UTSW	7	104260484	missense	probably benign	0.15
R0115:Trim34a	UTSW	7	104247902	missense	probably damaging	1.00
R0848:Trim34a	UTSW	7	104261124	missense	probably benign
R1016:Trim34a	UTSW	7	104247960	missense	probably benign	0.10
R1477:Trim34a	UTSW	7	104248080	missense	possibly damaging	0.81
R1622:Trim34a	UTSW	7	104261338	splice site	probably null
R2287:Trim34a	UTSW	7	104261055	missense	probably damaging	1.00
R3685:Trim34a	UTSW	7	104260126	splice site	probably null
R4166:Trim34a	UTSW	7	104261016	missense	probably benign	0.02
R4967:Trim34a	UTSW	7	104261064	nonsense	probably null
R4979:Trim34a	UTSW	7	104247862	missense	probably benign	0.00
R5194:Trim34a	UTSW	7	104260993	missense	possibly damaging	0.70
R5443:Trim34a	UTSW	7	104260213	missense	possibly damaging	0.80
R5631:Trim34a	UTSW	7	104248739	missense	probably damaging	1.00
R5902:Trim34a	UTSW	7	104261121	nonsense	probably null
R6147:Trim34a	UTSW	7	104261191	missense	probably damaging	0.99
R6644:Trim34a	UTSW	7	104261037	missense	probably damaging	1.00
R7971:Trim34a	UTSW	7	104247818	missense	probably damaging	0.98
R8060:Trim34a	UTSW	7	104260976	missense	probably damaging	1.00
R8278:Trim34a	UTSW	7	104249416	missense	probably damaging	0.99
R8356:Trim34a	UTSW	7	104260971	missense	probably damaging	0.99
R9563:Trim34a	UTSW	7	104261121	nonsense	probably null
X0023:Trim34a	UTSW	7	104259415	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- CCAGTGTTGGCTTTTCACAG -3'
(R):5'- TTCGATCCATGCTGTAACCC -3'

Sequencing Primer
(F):5'- GGCTTTTCACAGTGTTTCACAAAC -3'
(R):5'- ATAACCCAGTAGCCATTCTGTG -3'

Posted On

2022-03-25