Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Trim34a'

77424

Institutional Source

Beutler Lab

Gene Symbol

Trim34a

Ensembl Gene

ENSMUSG00000056144

Gene Name

tripartite motif-containing 34A

Synonyms

Trim34-1, Trim34

MMRRC Submission

039027-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104244457-104262234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104261124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 378 (R378C)

Ref Sequence

ENSEMBL: ENSMUSP00000102462 (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 benign
Transcript: ENSMUST00000060315
AA Change: R378C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144
AA Change: R378C

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 benign
Transcript: ENSMUST00000106848
AA Change: R378C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144
AA Change: R378C

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 benign
Transcript: ENSMUST00000106849
AA Change: R378C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144
AA Change: R378C

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

noncoding transcript
Transcript: ENSMUST00000158033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217156

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,985	H181Q	probably damaging	Het
Abca13	T	A	11: 9,682,011	L4977*	probably null	Het
Abca8a	T	A	11: 110,028,190	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,072,584	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,533,939		probably benign	Het
Anks1b	A	C	10: 90,071,125	E268A	probably damaging	Het
Atp5s	A	T	12: 69,741,810	H161L	probably benign	Het
C1rl	A	G	6: 124,508,506	T279A	probably benign	Het
C5ar2	T	C	7: 16,237,601	T134A	probably benign	Het
Cdkl3	G	A	11: 52,011,267	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,414,338	F386Y	probably benign	Het
Chd1	C	T	17: 15,770,241	P1685L	probably damaging	Het
Chrne	G	T	11: 70,615,413	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,255,163	Y620H	probably benign	Het
Col6a1	A	G	10: 76,713,624		probably null	Het
Cyp2d26	T	A	15: 82,790,233	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Eif1a	T	A	18: 46,608,047	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,549,954	C696S	probably benign	Het
Exoc7	A	G	11: 116,295,248	S376P	possibly damaging	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gimap7	T	C	6: 48,723,723	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 88,694,229	V171A	probably damaging	Het
Hax1	A	G	3: 89,995,633	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,619,355	D258E	probably damaging	Het
Kcnb1	G	T	2: 167,106,267	F220L	probably damaging	Het
Kif1a	T	A	1: 93,019,898	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,204,264	I379N	probably damaging	Het
Lpxn	A	G	19: 12,804,037	I40V	probably benign	Het
Lrp1	C	T	10: 127,553,362		probably null	Het
Lyst	G	A	13: 13,634,930	R395H	probably benign	Het
Mindy4	G	A	6: 55,318,286	W737*	probably null	Het
Mki67	C	A	7: 135,701,043	R754L	probably benign	Het
Morf4l1	A	G	9: 90,100,449	V144A	probably benign	Het
Mvb12a	T	C	8: 71,545,778	S186P	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Nipal1	A	G	5: 72,667,840	N292S	probably damaging	Het
Nqo2	T	G	13: 33,972,478		probably null	Het
Olfr1532-ps1	A	G	7: 106,914,993	K265R	probably benign	Het
Olfr294	T	C	7: 86,615,640	Y335C	probably damaging	Het
Olfr807	C	T	10: 129,755,208	V81I	probably benign	Het
Olfr994	A	T	2: 85,430,021	N269K	probably benign	Het
Osbpl7	C	A	11: 97,060,524	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,267,422	G809S	probably benign	Het
Pcm1	T	C	8: 41,282,683	V846A	probably damaging	Het
Phf3	A	G	1: 30,863,172	L20P	probably damaging	Het
Pih1d1	A	G	7: 45,157,617	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,223,564		probably null	Het
Plvap	A	T	8: 71,506,882	L422Q	probably damaging	Het
Polq	C	T	16: 37,062,130	A1273V	probably benign	Het
Prelid2	T	A	18: 41,935,224	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,462,702	D8N	probably damaging	Het
Ptpra	T	A	2: 130,518,991	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,540,512	S151P	probably benign	Het
Rsph6a	G	A	7: 19,057,670	D255N	probably benign	Het
Serpinb6c	A	T	13: 33,899,305	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866	N22S	probably benign	Het
Snx5	G	A	2: 144,253,806	R312C	probably damaging	Het
Stard9	T	C	2: 120,695,823	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,097,959		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tlr12	A	G	4: 128,616,291	I722T	probably benign	Het
Tmem101	A	T	11: 102,155,866	M59K	possibly damaging	Het
Trim35	T	A	14: 66,309,125	M447K	probably benign	Het
Trps1	C	A	15: 50,661,549	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 20,890,171	S161C	probably damaging	Het
Vps13a	A	C	19: 16,698,897	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,536,559	C671F	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
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
R9275:Trim34a	UTSW	7	104260994	missense	probably damaging	0.96
R9563:Trim34a	UTSW	7	104261121	nonsense	probably null
X0023:Trim34a	UTSW	7	104259415	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TGCTTACAGTCAGAGCAGTAGGGAG -3'
(R):5'- GCTGGACAGTCCCAAGGATTGAAG -3'

Sequencing Primer
(F):5'- agagcagtagggagatgagg -3'
(R):5'- AGGAAGGATACTGTGCCCTC -3'

Posted On

2013-10-16