Mutagenetix > Incidental Mutations

Incidental Mutation 'R6147:Trim34a'

488949

Institutional Source

Beutler Lab

Gene Symbol

Trim34a

Ensembl Gene

ENSMUSG00000056144

Gene Name

tripartite motif-containing 34A

Synonyms

Trim34-1, Trim34

MMRRC Submission

044294-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104244457-104262234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104261191 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 400 (Q400L)

Ref Sequence

ENSEMBL: ENSMUSP00000102462 (fasta)

Gene Model

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

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: Q400L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144
AA Change: Q400L

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: Q400L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144
AA Change: Q400L

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: Q400L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144
AA Change: Q400L

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: 99.8%
3x: 99.3%
10x: 97.1%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,379,308	Y168C	probably damaging	Het
Acmsd	C	T	1: 127,729,420		probably benign	Het
Acsf3	T	A	8: 122,781,474	D236E	probably damaging	Het
Aqp1	G	T	6: 55,336,610	E40D	probably benign	Het
Arfgef2	A	G	2: 166,871,495	D1272G	probably damaging	Het
Arfip1	A	G	3: 84,529,178	V97A	probably benign	Het
Atp6v1b2	T	A	8: 69,102,482	Y165*	probably null	Het
BC051142	T	C	17: 34,418,923	S31P	possibly damaging	Het
Bclaf1	T	A	10: 20,323,425	D189E	possibly damaging	Het
Camsap2	G	A	1: 136,345,400	T13M	probably damaging	Het
Cntn5	T	A	9: 10,012,889	Y297F	probably damaging	Het
Cntnap5b	G	A	1: 100,050,781	C174Y	probably damaging	Het
Cntrl	A	C	2: 35,165,733	D1213A	possibly damaging	Het
Comtd1	C	A	14: 21,848,815	A20S	probably damaging	Het
Cspg4	A	T	9: 56,888,772	R1264W	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dlgap2	T	A	8: 14,727,294	C180S	probably benign	Het
Ednra	C	T	8: 77,667,322		probably benign	Het
Ephb6	A	T	6: 41,616,781	S533C	probably damaging	Het
Fndc1	A	T	17: 7,753,762		probably null	Het
Gif	G	A	19: 11,747,572		probably benign	Het
Gm11639	T	C	11: 104,967,740	V3875A	unknown	Het
Gm12185	A	G	11: 48,915,890	I158T	probably benign	Het
Gm14325	A	T	2: 177,832,807	C161S	probably damaging	Het
Gm17677	A	T	9: 35,742,110	Y70F	possibly damaging	Het
Gm17677	A	G	9: 35,742,232	T111A	possibly damaging	Het
Ighv9-1	T	A	12: 114,094,220	Q20L	probably damaging	Het
Khnyn	G	C	14: 55,887,603	S438T	probably damaging	Het
Krt9	T	C	11: 100,188,839	S576G	unknown	Het
Lrriq4	A	T	3: 30,659,079	N443I	probably damaging	Het
Luzp1	A	G	4: 136,541,063	Y199C	probably damaging	Het
Map2k3	T	A	11: 60,949,950	Y268*	probably null	Het
Men1	T	A	19: 6,337,242	D248E	probably damaging	Het
Mfsd4b2	A	T	10: 39,921,577	C261S	probably benign	Het
Mpeg1	T	G	19: 12,462,894	I572S	probably damaging	Het
Mrgprb2	A	G	7: 48,552,365	V204A	possibly damaging	Het
Mycbp2	A	T	14: 103,155,509	C805*	probably null	Het
Nphs2	A	T	1: 156,318,726	K91*	probably null	Het
Obox3	A	G	7: 15,626,001	S248P	probably damaging	Het
Olfr1054	A	T	2: 86,332,500	N285K	probably damaging	Het
Olfr109	T	C	17: 37,466,539	I111T	probably benign	Het
Olfr1152	C	T	2: 87,868,717	T242I	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pan3	T	C	5: 147,548,283		probably benign	Het
Pcdhb5	T	A	18: 37,320,726	L53Q	probably damaging	Het
Pcdhb9	G	T	18: 37,402,441	R496L	possibly damaging	Het
Peg10	C	T	6: 4,754,499		probably benign	Het
Plce1	A	G	19: 38,702,037	K722E	probably damaging	Het
Plch1	A	G	3: 63,722,881	S489P	probably damaging	Het
Plekhg3	T	C	12: 76,565,211	V362A	probably damaging	Het
Radil	G	A	5: 142,497,940	H264Y	probably benign	Het
Ranbp2	C	A	10: 58,479,428	T1990K	probably damaging	Het
Rnf207	T	C	4: 152,315,655	D192G	probably damaging	Het
Ryr1	A	T	7: 29,085,914	F1784Y	possibly damaging	Het
Set	T	A	2: 30,066,824	S2T	probably benign	Het
Slc26a2	T	A	18: 61,201,685	Y232F	probably damaging	Het
Sntb1	T	A	15: 55,648,010	M393L	probably benign	Het
Stx16	A	G	2: 174,090,687	T18A	probably damaging	Het
Stxbp5	A	T	10: 9,808,472	S585T	possibly damaging	Het
Sult2a7	T	C	7: 14,465,163	E313G	probably damaging	Het
Tbck	A	G	3: 132,694,446	K86R	probably benign	Het
Tom1	A	T	8: 75,054,692	Q255L	possibly damaging	Het
Trbv4	A	G	6: 41,059,703	Y54C	probably damaging	Het
Trim42	G	T	9: 97,363,329	H473N	probably benign	Het
Tshr	T	A	12: 91,538,235	M649K	possibly damaging	Het
Vmn2r11	C	T	5: 109,054,834	V126M	probably benign	Het
Vps13b	T	A	15: 35,930,031	H3971Q	probably benign	Het
Wdr75	T	A	1: 45,819,538	N622K	probably benign	Het
Wdr93	A	T	7: 79,758,497	Q242L	probably benign	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
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
X0023:Trim34a	UTSW	7	104259415	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TGGCCCTTTAAGTGTTGTAATAACG -3'
(R):5'- AGCAGCATTGGGAGAACTTG -3'

Sequencing Primer
(F):5'- AACGGTATCTTGGGCTCCAAATG -3'
(R):5'- GAACTTGTAAATGAGTGATCCATGG -3'

Posted On

2017-10-10