Mutagenetix > Incidental Mutation

Incidental Mutation 'R9581:Trim7'

722547

Institutional Source

Beutler Lab

Gene Symbol

Trim7

Ensembl Gene

ENSMUSG00000040350

Gene Name

tripartite motif-containing 7

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R9581 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48716965-48742019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48738887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 95 (V95A)

Ref Sequence

ENSEMBL: ENSMUSP00000104836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046903] [ENSMUST00000109213] [ENSMUST00000129674] [ENSMUST00000149049]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000046903
AA Change: V302A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039011
Gene: ENSMUSG00000040350
AA Change: V302A

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
RING	29	80	2.95e-7	SMART
BBOX	124	165	3.23e-13	SMART
low complexity region	232	244	N/A	INTRINSIC
coiled coil region	246	271	N/A	INTRINSIC
low complexity region	285	304	N/A	INTRINSIC
PRY	340	392	4.61e-18	SMART
SPRY	393	506	1.63e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109213
AA Change: V95A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104836
Gene: ENSMUSG00000040350
AA Change: V95A

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
coiled coil region	39	64	N/A	INTRINSIC
low complexity region	78	97	N/A	INTRINSIC
PRY	133	185	4.61e-18	SMART
SPRY	186	299	1.63e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129674

SMART Domains

Protein: ENSMUSP00000116067
Gene: ENSMUSG00000040350

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149049

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	G	5: 8,790,428 (GRCm39)	I1097R	possibly damaging	Het
Abcd4	A	G	12: 84,650,762 (GRCm39)	S533P	probably damaging	Het
Adat1	C	T	8: 112,705,946 (GRCm39)	V387I	probably benign	Het
Aff3	T	A	1: 38,249,266 (GRCm39)	T614S	probably benign	Het
Aldh1a1	T	A	19: 20,597,417 (GRCm39)	C133S	probably benign	Het
Ankrd12	A	G	17: 66,290,415 (GRCm39)	S1673P	probably damaging	Het
Aox1	T	A	1: 58,370,055 (GRCm39)		probably null	Het
Arsi	A	G	18: 61,050,160 (GRCm39)	T348A	probably damaging	Het
Baz2b	T	C	2: 59,799,300 (GRCm39)	R275G	probably benign	Het
Cdh2	T	A	18: 16,803,112 (GRCm39)		probably benign	Het
Cela1	C	T	15: 100,573,261 (GRCm39)	A243T	probably benign	Het
Cep192	G	T	18: 67,980,465 (GRCm39)	V1409F	probably damaging	Het
Chia1	T	C	3: 106,035,879 (GRCm39)	Y240H	possibly damaging	Het
Dact1	A	T	12: 71,365,619 (GRCm39)	K763M	probably damaging	Het
Dip2b	C	A	15: 100,079,255 (GRCm39)	N822K	probably damaging	Het
Dnah12	C	T	14: 26,491,985 (GRCm39)	T1140I	probably damaging	Het
Drc7	T	C	8: 95,785,782 (GRCm39)	S213P	probably damaging	Het
Ell2	A	G	13: 75,912,148 (GRCm39)	D478G	probably benign	Het
Evpl	G	A	11: 116,120,660 (GRCm39)	T483M	probably benign	Het
Farp1	A	T	14: 121,480,841 (GRCm39)	E414V	probably benign	Het
Fbxl17	A	G	17: 63,806,525 (GRCm39)	V163A	probably benign	Het
Foxn3	C	T	12: 99,163,035 (GRCm39)	E289K	probably damaging	Het
Fscb	T	A	12: 64,521,122 (GRCm39)	I115F	probably benign	Het
Gm14496	A	T	2: 181,642,047 (GRCm39)	T573S	probably benign	Het
Golga1	G	T	2: 38,909,573 (GRCm39)	D677E	probably damaging	Het
Herc6	A	T	6: 57,635,101 (GRCm39)	K772N	probably damaging	Het
Ikbkb	T	C	8: 23,155,575 (GRCm39)	D639G	probably damaging	Het
Lrrc61	G	A	6: 48,545,653 (GRCm39)	V159I	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mib1	A	G	18: 10,775,701 (GRCm39)	D551G	possibly damaging	Het
Muc5ac	G	T	7: 141,363,799 (GRCm39)	R2370L	unknown	Het
Mybpc3	A	G	2: 90,949,616 (GRCm39)	D53G	probably benign	Het
Myo9b	C	T	8: 71,812,543 (GRCm39)	P2105S	probably benign	Het
Naip5	G	T	13: 100,351,194 (GRCm39)	H1271Q	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nmt2	T	C	2: 3,317,212 (GRCm39)	V340A	possibly damaging	Het
Nos1	A	G	5: 118,043,459 (GRCm39)	E578G	probably damaging	Het
Nox3	G	A	17: 3,700,328 (GRCm39)	R462W	possibly damaging	Het
Or10h28	C	A	17: 33,487,995 (GRCm39)	A99D	probably damaging	Het
Or52a20	A	G	7: 103,365,788 (GRCm39)		probably benign	Het
Pcdhgc4	A	G	18: 37,950,189 (GRCm39)	Q535R	probably benign	Het
Pcsk5	T	C	19: 17,432,196 (GRCm39)	D1473G	probably benign	Het
Pdilt	A	T	7: 119,099,633 (GRCm39)	F212I	probably damaging	Het
Ptk2b	A	T	14: 66,450,789 (GRCm39)	V59D	probably damaging	Het
Ptprf	T	C	4: 118,092,257 (GRCm39)	D571G	probably benign	Het
Ptprq	A	T	10: 107,547,771 (GRCm39)	V209E	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Schip1	TCTGGCC	TC	3: 68,525,060 (GRCm39)		probably null	Het
Sec16a	C	T	2: 26,328,647 (GRCm39)	V142I		Het
Slamf6	A	G	1: 171,761,897 (GRCm39)	Y106C		Het
Strc	A	G	2: 121,207,928 (GRCm39)	V481A	probably damaging	Het
Sulf1	A	T	1: 12,875,478 (GRCm39)	I163F	possibly damaging	Het
Tjp1	A	G	7: 64,949,472 (GRCm39)	S1637P	probably damaging	Het
Tlr9	A	G	9: 106,101,510 (GRCm39)	E267G	probably damaging	Het
Tmem117	T	A	15: 94,992,268 (GRCm39)	F309L	probably benign	Het
Tmtc4	T	C	14: 123,187,998 (GRCm39)	N196S	probably benign	Het
Trim16	T	A	11: 62,727,557 (GRCm39)	I293K	probably damaging	Het
Ttll6	A	T	11: 96,049,572 (GRCm39)	K763N	probably benign	Het
Tut1	T	C	19: 8,941,981 (GRCm39)	S483P	probably benign	Het
Zfp101	A	T	17: 33,605,730 (GRCm39)	L26*	probably null	Het
Zfp106	C	T	2: 120,365,807 (GRCm39)	R155K		Het
Zfp518a	T	A	19: 40,900,156 (GRCm39)	D28E	probably damaging	Het
Zfp90	T	A	8: 107,151,714 (GRCm39)	S476T	probably benign	Het

Other mutations in Trim7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Trim7	APN	11	48,736,398 (GRCm39)	missense	probably damaging	0.99
IGL00476:Trim7	APN	11	48,738,905 (GRCm39)	missense	probably benign	0.39
R0119:Trim7	UTSW	11	48,740,539 (GRCm39)	missense	probably damaging	1.00
R0308:Trim7	UTSW	11	48,740,328 (GRCm39)	missense	probably damaging	0.96
R0546:Trim7	UTSW	11	48,736,336 (GRCm39)	missense	probably damaging	1.00
R1067:Trim7	UTSW	11	48,728,646 (GRCm39)	missense	probably damaging	0.99
R1081:Trim7	UTSW	11	48,740,532 (GRCm39)	missense	probably damaging	1.00
R2139:Trim7	UTSW	11	48,729,721 (GRCm39)	missense	probably benign	0.06
R3796:Trim7	UTSW	11	48,736,497 (GRCm39)	splice site	probably null
R3797:Trim7	UTSW	11	48,736,497 (GRCm39)	splice site	probably null
R3901:Trim7	UTSW	11	48,728,435 (GRCm39)	missense	probably damaging	0.98
R4157:Trim7	UTSW	11	48,738,920 (GRCm39)	missense	probably benign	0.00
R4603:Trim7	UTSW	11	48,728,355 (GRCm39)	start codon destroyed	probably null	0.98
R5429:Trim7	UTSW	11	48,740,782 (GRCm39)	missense	probably damaging	1.00
R5915:Trim7	UTSW	11	48,736,477 (GRCm39)	missense	possibly damaging	0.95
R5988:Trim7	UTSW	11	48,728,513 (GRCm39)	missense	probably benign	0.01
R7960:Trim7	UTSW	11	48,728,628 (GRCm39)	missense	probably damaging	0.99
R8100:Trim7	UTSW	11	48,740,346 (GRCm39)	missense	probably damaging	1.00
R9121:Trim7	UTSW	11	48,740,674 (GRCm39)	missense	probably damaging	1.00
R9289:Trim7	UTSW	11	48,736,281 (GRCm39)	nonsense	probably null
R9574:Trim7	UTSW	11	48,728,460 (GRCm39)	missense	probably damaging	1.00
Z1176:Trim7	UTSW	11	48,740,720 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCAACTGGGAGCAACAGG -3'
(R):5'- CCTCTTCTCAGTTCAAGAAAGACAC -3'

Sequencing Primer
(F):5'- TCTTCTAATAGGGACACAAGCTGGC -3'
(R):5'- GTTCAAGAAAGACACAGCCTTAC -3'

Posted On

2022-08-09