Mutagenetix > Incidental Mutation

Incidental Mutation 'R5361:Trim10'

422835

Institutional Source

Beutler Lab

Gene Symbol

Trim10

Ensembl Gene

ENSMUSG00000073400

Gene Name

tripartite motif-containing 10

Synonyms

Rnf9, Herf1

MMRRC Submission

042940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37180466-37188725 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37186328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 301 (L301R)

Ref Sequence

ENSEMBL: ENSMUSP00000057928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060524]

AlphaFold

Q9WUH5

Predicted Effect

probably benign
Transcript: ENSMUST00000060524
AA Change: L301R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000057928
Gene: ENSMUSG00000073400
AA Change: L301R

Domain	Start	End	E-Value	Type
RING	16	60	1.2e-7	SMART
BBOX	94	135	5.38e-10	SMART
coiled coil region	152	175	N/A	INTRINSIC
low complexity region	187	207	N/A	INTRINSIC
PRY	309	361	1.04e-25	SMART
SPRY	362	485	1.51e-23	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

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 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	A	9: 57,164,468 (GRCm39)	K635N	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ahnak	T	A	19: 8,992,705 (GRCm39)	M4663K	possibly damaging	Het
C4b	T	A	17: 34,960,212 (GRCm39)	T280S	probably benign	Het
Ccdc166	A	G	15: 75,852,869 (GRCm39)	V366A	probably benign	Het
Cdh23	A	G	10: 60,493,044 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,792,292 (GRCm39)	T1281A	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Dbndd1	T	A	8: 124,233,484 (GRCm39)	D127V	probably damaging	Het
Ddx20	T	A	3: 105,590,825 (GRCm39)	E197V	probably damaging	Het
Dennd10	A	G	19: 60,814,324 (GRCm39)	M96V	probably benign	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dnmt3a	T	C	12: 3,945,643 (GRCm39)	V24A	probably benign	Het
Dop1b	C	A	16: 93,567,392 (GRCm39)	A1273E	probably damaging	Het
Dsg1c	T	C	18: 20,416,703 (GRCm39)	V868A	possibly damaging	Het
Dtx4	A	G	19: 12,462,626 (GRCm39)		probably null	Het
Elovl4	A	G	9: 83,672,154 (GRCm39)	L55P	possibly damaging	Het
Fbxo40	T	A	16: 36,789,914 (GRCm39)	T399S	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm14399	T	C	2: 174,973,371 (GRCm39)	E96G	probably damaging	Het
Gm14496	T	G	2: 181,642,147 (GRCm39)	V606G	probably benign	Het
Gpr156	A	G	16: 37,826,087 (GRCm39)	E768G	probably damaging	Het
Grm5	A	T	7: 87,723,704 (GRCm39)	T665S	probably damaging	Het
Hsdl2	A	G	4: 59,592,301 (GRCm39)		probably benign	Het
Htt	T	C	5: 35,064,928 (GRCm39)	V3047A	possibly damaging	Het
Igkv3-2	A	T	6: 70,676,011 (GRCm39)	T107S	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itih2	T	A	2: 10,101,272 (GRCm39)	T899S	probably benign	Het
Lhcgr	T	A	17: 89,050,281 (GRCm39)	Y415F	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med4	C	A	14: 73,747,553 (GRCm39)	S18*	probably null	Het
Nefl	T	C	14: 68,322,088 (GRCm39)	V226A	probably damaging	Het
Nploc4	T	A	11: 120,275,389 (GRCm39)	N516Y	probably damaging	Het
Or1o4	A	G	17: 37,590,501 (GRCm39)	V270A	probably benign	Het
Or6c66	A	T	10: 129,461,601 (GRCm39)	F110I	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdha3	T	G	18: 37,079,752 (GRCm39)	L165V	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,099 (GRCm39)	V415D	probably damaging	Het
Pcdhga10	T	C	18: 37,880,503 (GRCm39)	I88T	probably damaging	Het
Pigyl	T	A	9: 22,069,292 (GRCm39)	M1K	probably null	Het
Prr27	T	C	5: 87,991,203 (GRCm39)	S272P	probably damaging	Het
Prss3	C	T	6: 41,350,780 (GRCm39)	D237N	probably benign	Het
Pstpip2	A	G	18: 77,958,078 (GRCm39)	D150G	probably damaging	Het
Robo4	T	A	9: 37,324,674 (GRCm39)	D909E	probably benign	Het
Serpinb3c	A	T	1: 107,204,661 (GRCm39)	Y28*	probably null	Het
Slc26a3	T	C	12: 31,500,980 (GRCm39)		probably null	Het
Slc6a1	A	T	6: 114,279,493 (GRCm39)	I91F	probably benign	Het
Smcr8	T	G	11: 60,669,118 (GRCm39)	Y89D	probably damaging	Het
Sspo	T	A	6: 48,443,247 (GRCm39)	M1898K	probably benign	Het
Tbl1xr1	T	A	3: 22,246,233 (GRCm39)	I251K	probably damaging	Het
Thbs4	C	T	13: 92,913,501 (GRCm39)	D140N	probably benign	Het
Tmbim6	G	A	15: 99,303,633 (GRCm39)	A108T	probably benign	Het
Trpm7	A	T	2: 126,671,161 (GRCm39)	I607N	possibly damaging	Het
Vmn2r9	T	A	5: 108,995,929 (GRCm39)	I240F	probably damaging	Het
Xpot	T	A	10: 121,436,765 (GRCm39)	I873F	possibly damaging	Het
Zfhx4	G	A	3: 5,464,267 (GRCm39)	S1475N	probably damaging	Het
Zfp712	A	G	13: 67,189,079 (GRCm39)	S483P	possibly damaging	Het
Zswim7	A	T	11: 62,158,373 (GRCm39)	H122Q	probably benign	Het

Other mutations in Trim10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Trim10	APN	17	37,188,140 (GRCm39)	missense	probably benign	0.03
IGL00501:Trim10	APN	17	37,187,939 (GRCm39)	missense	probably benign	0.08
IGL00846:Trim10	APN	17	37,182,584 (GRCm39)	missense	probably damaging	1.00
IGL01536:Trim10	APN	17	37,188,180 (GRCm39)	splice site	probably null
IGL02814:Trim10	APN	17	37,188,228 (GRCm39)	nonsense	probably null
IGL03135:Trim10	APN	17	37,185,113 (GRCm39)	missense	possibly damaging	0.78
IGL03144:Trim10	APN	17	37,187,740 (GRCm39)	missense	probably damaging	1.00
IGL03298:Trim10	APN	17	37,187,917 (GRCm39)	missense	possibly damaging	0.87
PIT4378001:Trim10	UTSW	17	37,188,020 (GRCm39)	missense	probably damaging	0.98
R0102:Trim10	UTSW	17	37,181,074 (GRCm39)	missense	probably damaging	1.00
R0102:Trim10	UTSW	17	37,181,074 (GRCm39)	missense	probably damaging	1.00
R0834:Trim10	UTSW	17	37,183,283 (GRCm39)	missense	probably benign	0.00
R1517:Trim10	UTSW	17	37,183,346 (GRCm39)	missense	probably damaging	1.00
R1691:Trim10	UTSW	17	37,187,791 (GRCm39)	missense	probably damaging	1.00
R1696:Trim10	UTSW	17	37,188,073 (GRCm39)	nonsense	probably null
R2149:Trim10	UTSW	17	37,187,906 (GRCm39)	missense	probably benign	0.18
R3153:Trim10	UTSW	17	37,182,580 (GRCm39)	missense	probably damaging	1.00
R3154:Trim10	UTSW	17	37,182,580 (GRCm39)	missense	probably damaging	1.00
R5156:Trim10	UTSW	17	37,187,948 (GRCm39)	missense	probably damaging	0.99
R5327:Trim10	UTSW	17	37,181,081 (GRCm39)	missense	probably damaging	1.00
R5758:Trim10	UTSW	17	37,188,044 (GRCm39)	missense	possibly damaging	0.80
R5764:Trim10	UTSW	17	37,181,073 (GRCm39)	missense	probably damaging	0.97
R6032:Trim10	UTSW	17	37,182,606 (GRCm39)	missense	possibly damaging	0.87
R6032:Trim10	UTSW	17	37,182,606 (GRCm39)	missense	possibly damaging	0.87
R6179:Trim10	UTSW	17	37,187,923 (GRCm39)	missense	probably damaging	1.00
R6709:Trim10	UTSW	17	37,183,262 (GRCm39)	missense	probably damaging	0.99
R7172:Trim10	UTSW	17	37,180,955 (GRCm39)	missense	possibly damaging	0.78
R7197:Trim10	UTSW	17	37,187,846 (GRCm39)	missense	probably damaging	1.00
R7390:Trim10	UTSW	17	37,180,773 (GRCm39)	start codon destroyed	probably null	0.98
R7391:Trim10	UTSW	17	37,180,773 (GRCm39)	start codon destroyed	probably null	0.98
R7696:Trim10	UTSW	17	37,182,644 (GRCm39)	missense	probably damaging	1.00
R8830:Trim10	UTSW	17	37,180,846 (GRCm39)	missense	probably damaging	1.00
R8867:Trim10	UTSW	17	37,181,048 (GRCm39)	missense	probably benign	0.00
R8970:Trim10	UTSW	17	37,184,168 (GRCm39)	missense	probably benign	0.00
R9376:Trim10	UTSW	17	37,184,168 (GRCm39)	missense	probably benign	0.00
R9635:Trim10	UTSW	17	37,187,890 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCAGGAGCATCAGTAAC -3'
(R):5'- AACTGTCATACATGGCCTCCTC -3'

Sequencing Primer
(F):5'- ACCCATGTGAGATACCTGCATATCTG -3'
(R):5'- GGGCAGAATCTTACCATATCACTAC -3'

Posted On

2016-08-04