Mutagenetix > Incidental Mutation

Incidental Mutation 'R9232:Trim56'

700292

Institutional Source

Beutler Lab

Gene Symbol

Trim56

Ensembl Gene

ENSMUSG00000043279

Gene Name

tripartite motif-containing 56

Synonyms

RNF109, A130009K11Rik, LOC384309

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9232 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137105644-137116209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137112778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 628 (V628A)

Ref Sequence

ENSEMBL: ENSMUSP00000058109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054384] [ENSMUST00000152207]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000054384
AA Change: V628A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058109
Gene: ENSMUSG00000043279
AA Change: V628A

Domain	Start	End	E-Value	Type
RING	21	59	9.09e-8	SMART
low complexity region	118	133	N/A	INTRINSIC
Pfam:zf-B_box	164	205	1.9e-7	PFAM
coiled coil region	257	291	N/A	INTRINSIC
low complexity region	302	309	N/A	INTRINSIC
low complexity region	381	399	N/A	INTRINSIC
low complexity region	432	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152207

SMART Domains

Protein: ENSMUSP00000117874
Gene: ENSMUSG00000043279

Domain	Start	End	E-Value	Type
RING	21	59	9.09e-8	SMART
low complexity region	118	133	N/A	INTRINSIC
Pfam:zf-B_box	164	205	2.4e-9	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	A	T	18: 10,652,198	S278T	probably benign	Het
Adgrf1	T	C	17: 43,310,404	Y511H	probably benign	Het
Atp5h	A	G	11: 115,418,395	F38S	probably benign	Het
Cdc6	T	G	11: 98,910,375	S151A	probably benign	Het
Ceacam12	T	A	7: 18,069,416	M249K	probably benign	Het
Cenpt	T	C	8: 105,845,161	Q446R	probably damaging	Het
Cnnm1	T	A	19: 43,491,886	S883T	probably benign	Het
Cntn6	T	C	6: 104,838,820	W721R	probably damaging	Het
Defb43	A	G	14: 63,017,832	K38R	probably damaging	Het
Eif2a	T	C	3: 58,555,601	S522P	probably benign	Het
Erap1	T	G	13: 74,663,518	S332R	probably benign	Het
Foxa3	C	A	7: 19,014,865	R112L	probably damaging	Het
Foxf1	T	A	8: 121,084,976	M193K	possibly damaging	Het
Gbp11	T	C	5: 105,328,424	Y273C	possibly damaging	Het
Gli2	T	A	1: 118,836,291	T1377S	probably benign	Het
Gm10271	T	A	10: 116,972,574	L12F	probably damaging	Het
Gm13023	T	G	4: 143,793,693	L169R	probably benign	Het
Grm5	G	A	7: 88,074,383	G627D	probably damaging	Het
Gtf3c4	A	G	2: 28,834,836	S295P	probably damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Igsf10	G	A	3: 59,336,422	R164W	probably damaging	Het
Iqch	T	A	9: 63,421,918	M1045L	probably benign	Het
Kcnt2	T	C	1: 140,484,193	S455P	possibly damaging	Het
Kif26b	G	A	1: 178,914,946	G869E	probably damaging	Het
Kit	A	G	5: 75,639,132	N508S	probably benign	Het
Lgals8	C	T	13: 12,454,896	V61M	probably damaging	Het
Lztr1	T	C	16: 17,521,479	V392A	possibly damaging	Het
Mad1l1	T	A	5: 140,105,541	M524L	probably benign	Het
Mob3b	T	C	4: 34,986,101	N146D	probably benign	Het
Muc16	T	C	9: 18,656,040	T1728A	unknown	Het
Nlgn2	T	C	11: 69,828,029	H278R	probably damaging	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Plce1	A	G	19: 38,716,979	M943V	probably benign	Het
Proser2	A	G	2: 6,101,204	L183P	probably benign	Het
Prss36	T	C	7: 127,944,816	I128V	probably benign	Het
Rabggta	C	T	14: 55,719,288	V320I	probably benign	Het
Sepsecs	A	G	5: 52,666,002	V125A	probably benign	Het
Sik3	C	T	9: 46,211,918	P1005L	probably benign	Het
Slc22a20	A	T	19: 5,972,981	I378N	possibly damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Tap1	T	C	17: 34,193,303	V494A	probably benign	Het
Tg	A	G	15: 66,698,461	D1394G	probably benign	Het
Tgfbr3	T	C	5: 107,142,495	T315A	possibly damaging	Het
Tmc2	A	G	2: 130,243,129	T559A	probably damaging	Het
Tph1	A	G	7: 46,662,105	I71T	probably benign	Het
Trib3	A	T	2: 152,343,042	C96S	probably damaging	Het
Trim28	G	A	7: 13,029,563	A544T	probably benign	Het
Ttc6	A	G	12: 57,729,424	Y1718C	probably damaging	Het
Tuft1	T	C	3: 94,622,138	Q244R	probably benign	Het
Unc13b	A	G	4: 43,240,321	T793A	probably benign	Het
Vmn1r39	A	G	6: 66,804,596	I246T	possibly damaging	Het
Xpo1	T	C	11: 23,282,646	S389P	probably benign	Het
Zdbf2	T	C	1: 63,308,009	F1849S	possibly damaging	Het

Other mutations in Trim56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Trim56	APN	5	137114500	missense	possibly damaging	0.95
IGL02604:Trim56	APN	5	137113076	missense	probably damaging	0.98
IGL02653:Trim56	APN	5	137112906	missense	probably damaging	1.00
IGL03069:Trim56	APN	5	137113762	missense	probably damaging	0.99
R0711:Trim56	UTSW	5	137112992	missense	probably benign	0.00
R1167:Trim56	UTSW	5	137112520	missense	probably damaging	0.98
R1470:Trim56	UTSW	5	137113163	missense	probably damaging	0.99
R1470:Trim56	UTSW	5	137113163	missense	probably damaging	0.99
R1508:Trim56	UTSW	5	137113937	missense	probably benign	0.00
R1791:Trim56	UTSW	5	137114398	missense	probably damaging	1.00
R2484:Trim56	UTSW	5	137112674	missense	possibly damaging	0.95
R4274:Trim56	UTSW	5	137113687	missense	probably damaging	1.00
R4579:Trim56	UTSW	5	137114064	missense	possibly damaging	0.60
R4766:Trim56	UTSW	5	137112725	missense	probably benign	0.07
R4932:Trim56	UTSW	5	137114489	missense	probably damaging	1.00
R5117:Trim56	UTSW	5	137113978	missense	probably benign	0.13
R6444:Trim56	UTSW	5	137112616	missense	probably damaging	0.99
R6747:Trim56	UTSW	5	137114521	missense	probably damaging	1.00
R6962:Trim56	UTSW	5	137112647	missense	probably damaging	0.97
R7115:Trim56	UTSW	5	137113660	missense	probably damaging	0.98
R7266:Trim56	UTSW	5	137114243	missense	probably damaging	0.98
R7706:Trim56	UTSW	5	137114656	missense	probably benign	0.00
R8347:Trim56	UTSW	5	137112592	missense	probably damaging	1.00
R8492:Trim56	UTSW	5	137112929	missense	probably benign
R8695:Trim56	UTSW	5	137114575	missense	probably benign	0.15
R9152:Trim56	UTSW	5	137114533	missense	probably benign	0.06
R9166:Trim56	UTSW	5	137113897	missense	probably damaging	1.00
X0019:Trim56	UTSW	5	137114210	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGATCCAGTATCACCACCTTG -3'
(R):5'- CCTGACGGAGAAATTCAGTGG -3'

Sequencing Primer
(F):5'- GGATCCAGTATCACCACCTTGTTTAC -3'
(R):5'- AAATTCAGTGGCGCAGGTCC -3'

Posted On

2022-02-07