Mutagenetix > Incidental Mutation

Incidental Mutation 'R8223:Trim9'

636845

Institutional Source

Beutler Lab

Gene Symbol

Trim9

Ensembl Gene

ENSMUSG00000021071

Gene Name

tripartite motif-containing 9

Synonyms

C030048G07Rik

MMRRC Submission

067641-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R8223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70291307-70394388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70297789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 713 (A713T)

Ref Sequence

ENSEMBL: ENSMUSP00000106151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110520] [ENSMUST00000110522]

AlphaFold

Q8C7M3

Predicted Effect

probably damaging
Transcript: ENSMUST00000110520
AA Change: A639T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: A639T

Domain	Start	End	E-Value	Type
RING	10	131	1.23e-4	SMART
BBOX	163	212	2.84e-9	SMART
BBOX	224	266	9.89e-9	SMART
BBC	273	399	1.29e-38	SMART
FN3	439	522	4.09e-7	SMART
Pfam:SPRY	598	702	2.4e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110522
AA Change: A713T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: A713T

Domain	Start	End	E-Value	Type
RING	10	131	1.23e-4	SMART
BBOX	163	212	2.84e-9	SMART
BBOX	224	266	9.89e-9	SMART
BBC	273	399	1.29e-38	SMART
FN3	439	522	4.09e-7	SMART
low complexity region	591	605	N/A	INTRINSIC
Pfam:SPRY	674	776	1.5e-9	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.2%

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. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display increased axonal branching and increased corpus callosum thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,668,692 (GRCm39)	W18R	probably damaging	Het
Alms1	T	A	6: 85,620,222 (GRCm39)	Y2417*	probably null	Het
Apold1	T	A	6: 134,961,148 (GRCm39)	S201T	probably benign	Het
Arhgap31	G	A	16: 38,424,084 (GRCm39)	P661S	probably benign	Het
Cacfd1	T	C	2: 26,908,396 (GRCm39)	V110A	possibly damaging	Het
Capn2	A	G	1: 182,310,099 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,579,335 (GRCm39)	E98G	possibly damaging	Het
Crxos	T	C	7: 15,631,394 (GRCm39)	Y31H	probably benign	Het
Cyp4f14	A	C	17: 33,130,627 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,839 (GRCm39)	I95T	probably benign	Het
Dars1	T	C	1: 128,299,961 (GRCm39)	E341G	probably benign	Het
Dchs1	G	T	7: 105,411,824 (GRCm39)	R1431S	possibly damaging	Het
Dop1a	T	A	9: 86,400,345 (GRCm39)	H1001Q	probably damaging	Het
Efemp1	T	C	11: 28,804,528 (GRCm39)	Y19H	probably benign	Het
Eml1	T	G	12: 108,502,569 (GRCm39)	F726V	probably benign	Het
Fdx1	A	T	9: 51,859,921 (GRCm39)	D136E	probably benign	Het
Ganab	A	T	19: 8,888,192 (GRCm39)	D446V	probably damaging	Het
Gusb	A	G	5: 130,018,953 (GRCm39)	V561A	probably benign	Het
Hcn1	A	T	13: 118,010,406 (GRCm39)	D328V	unknown	Het
Hdgfl1	A	G	13: 26,954,047 (GRCm39)	Y9H	probably damaging	Het
Hes3	T	A	4: 152,371,572 (GRCm39)	S101C	probably damaging	Het
Igkv2-112	T	C	6: 68,197,579 (GRCm39)	S84P	probably benign	Het
Ints9	C	T	14: 65,257,809 (GRCm39)	P330S	possibly damaging	Het
Kdm7a	A	T	6: 39,126,235 (GRCm39)	N583K	probably damaging	Het
Klhl10	C	T	11: 100,338,227 (GRCm39)	T322M	probably damaging	Het
Kmt2c	A	T	5: 25,529,216 (GRCm39)	V1545D	possibly damaging	Het
Laptm5	T	C	4: 130,653,511 (GRCm39)		probably null	Het
Ldlr	A	G	9: 21,658,546 (GRCm39)	T833A	probably damaging	Het
Llgl1	G	T	11: 60,593,648 (GRCm39)	L40F	possibly damaging	Het
Lrrc14	T	C	15: 76,598,756 (GRCm39)	L464S	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lysmd3	T	A	13: 81,817,386 (GRCm39)	L121H		Het
Map2	T	C	1: 66,464,649 (GRCm39)	S1680P	probably damaging	Het
Med12l	T	C	3: 58,993,784 (GRCm39)	V583A	possibly damaging	Het
Mfsd4b5	A	G	10: 39,846,246 (GRCm39)	Y445H	probably damaging	Het
Morf4l1	G	A	9: 89,979,475 (GRCm39)	P169S	probably benign	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Ola1	A	G	2: 72,929,694 (GRCm39)	L303P	probably damaging	Het
Or1j19	T	A	2: 36,677,409 (GRCm39)	Y291N		Het
Or1o2	T	C	17: 37,542,727 (GRCm39)	D178G	possibly damaging	Het
Or7e166	T	C	9: 19,624,705 (GRCm39)	I194T	probably benign	Het
Or9i2	G	T	19: 13,816,225 (GRCm39)	T104K	probably damaging	Het
Pdlim3	A	T	8: 46,353,562 (GRCm39)	H99L	possibly damaging	Het
Plagl2	G	T	2: 153,073,461 (GRCm39)	T480N	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprq	C	T	10: 107,535,499 (GRCm39)	R422Q	probably benign	Het
Rad18	T	A	6: 112,664,982 (GRCm39)	R51*	probably null	Het
Rpap3	T	A	15: 97,589,185 (GRCm39)	T250S	probably benign	Het
Serpinb11	T	C	1: 107,305,262 (GRCm39)	Y213H	probably benign	Het
Slc15a4	A	G	5: 127,686,080 (GRCm39)	F201L	possibly damaging	Het
Slc25a4	A	G	8: 46,663,896 (GRCm39)	S22P	probably damaging	Het
Slfn1	T	A	11: 83,012,245 (GRCm39)	N120K	probably damaging	Het
Smok3c	T	C	5: 138,063,655 (GRCm39)	S381P	probably benign	Het
Sry	T	A	Y: 2,663,204 (GRCm39)	Q152L	unknown	Het
Taar2	T	A	10: 23,817,248 (GRCm39)	W263R	probably damaging	Het
Thnsl1	T	A	2: 21,216,924 (GRCm39)	V226E	probably benign	Het
Tmeff2	T	C	1: 51,172,279 (GRCm39)		probably null	Het
Tox	A	G	4: 6,842,408 (GRCm39)	Y41H	probably damaging	Het
Trank1	T	A	9: 111,194,957 (GRCm39)	Y994N	probably damaging	Het
Tub	T	A	7: 108,628,533 (GRCm39)	M393K	probably benign	Het
Ube4a	A	G	9: 44,871,333 (GRCm39)	L22P	possibly damaging	Het
Usp47	A	G	7: 111,703,583 (GRCm39)	K1165R	probably damaging	Het
Usp6nl	T	A	2: 6,435,327 (GRCm39)	I362K	probably damaging	Het
Vmn1r217	T	C	13: 23,298,369 (GRCm39)	I178V	probably benign	Het
Vmn1r45	T	A	6: 89,910,074 (GRCm39)	T299S	probably damaging	Het
Vmn2r5	A	T	3: 64,398,726 (GRCm39)	L751*	probably null	Het
Xkr8	G	A	4: 132,458,246 (GRCm39)	P144L	probably damaging	Het
Zfpm2	T	C	15: 40,616,355 (GRCm39)	I35T	probably benign	Het

Other mutations in Trim9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Trim9	APN	12	70,393,887 (GRCm39)	missense	probably damaging	0.98
IGL01618:Trim9	APN	12	70,295,125 (GRCm39)	missense	probably benign
IGL01794:Trim9	APN	12	70,328,654 (GRCm39)	missense	probably damaging	1.00
IGL03101:Trim9	APN	12	70,393,428 (GRCm39)	missense	probably damaging	1.00
IGL03184:Trim9	APN	12	70,297,995 (GRCm39)	missense	probably damaging	0.99
E0354:Trim9	UTSW	12	70,319,233 (GRCm39)	missense	probably benign	0.01
IGL03098:Trim9	UTSW	12	70,327,467 (GRCm39)	missense	possibly damaging	0.95
R0518:Trim9	UTSW	12	70,393,359 (GRCm39)	missense	probably damaging	0.99
R0622:Trim9	UTSW	12	70,393,378 (GRCm39)	missense	probably damaging	1.00
R0941:Trim9	UTSW	12	70,295,037 (GRCm39)	missense	probably damaging	0.97
R1022:Trim9	UTSW	12	70,298,791 (GRCm39)	splice site	probably null
R1024:Trim9	UTSW	12	70,298,791 (GRCm39)	splice site	probably null
R1204:Trim9	UTSW	12	70,393,501 (GRCm39)	missense	probably damaging	1.00
R1439:Trim9	UTSW	12	70,297,867 (GRCm39)	missense	probably damaging	1.00
R1530:Trim9	UTSW	12	70,319,202 (GRCm39)	missense	probably damaging	0.98
R1613:Trim9	UTSW	12	70,295,169 (GRCm39)	missense	probably damaging	1.00
R1661:Trim9	UTSW	12	70,301,887 (GRCm39)	missense	probably damaging	0.99
R1665:Trim9	UTSW	12	70,301,887 (GRCm39)	missense	probably damaging	0.99
R1722:Trim9	UTSW	12	70,295,148 (GRCm39)	missense	probably benign	0.33
R2097:Trim9	UTSW	12	70,393,933 (GRCm39)	missense	probably damaging	1.00
R3082:Trim9	UTSW	12	70,301,887 (GRCm39)	missense	possibly damaging	0.93
R3123:Trim9	UTSW	12	70,295,167 (GRCm39)	missense	probably damaging	1.00
R3124:Trim9	UTSW	12	70,295,167 (GRCm39)	missense	probably damaging	1.00
R3125:Trim9	UTSW	12	70,295,167 (GRCm39)	missense	probably damaging	1.00
R3738:Trim9	UTSW	12	70,297,969 (GRCm39)	missense	probably damaging	1.00
R4013:Trim9	UTSW	12	70,393,126 (GRCm39)	missense	probably damaging	1.00
R4017:Trim9	UTSW	12	70,393,126 (GRCm39)	missense	probably damaging	1.00
R4560:Trim9	UTSW	12	70,393,892 (GRCm39)	nonsense	probably null
R4734:Trim9	UTSW	12	70,295,047 (GRCm39)	missense	probably damaging	1.00
R4748:Trim9	UTSW	12	70,295,047 (GRCm39)	missense	probably damaging	1.00
R4749:Trim9	UTSW	12	70,295,047 (GRCm39)	missense	probably damaging	1.00
R4777:Trim9	UTSW	12	70,393,845 (GRCm39)	missense	probably damaging	1.00
R5027:Trim9	UTSW	12	70,393,482 (GRCm39)	missense	probably damaging	0.96
R5451:Trim9	UTSW	12	70,393,603 (GRCm39)	missense	probably benign	0.17
R5471:Trim9	UTSW	12	70,393,566 (GRCm39)	missense	possibly damaging	0.93
R6394:Trim9	UTSW	12	70,301,987 (GRCm39)	missense	possibly damaging	0.91
R6901:Trim9	UTSW	12	70,393,413 (GRCm39)	missense	probably damaging	0.96
R7549:Trim9	UTSW	12	70,393,715 (GRCm39)	missense	probably damaging	1.00
R7690:Trim9	UTSW	12	70,295,117 (GRCm39)	missense	probably benign
R7895:Trim9	UTSW	12	70,301,961 (GRCm39)	missense	probably benign	0.03
R8003:Trim9	UTSW	12	70,393,608 (GRCm39)	missense	probably benign	0.39
R8026:Trim9	UTSW	12	70,337,161 (GRCm39)	missense	probably benign	0.00
R8956:Trim9	UTSW	12	70,393,665 (GRCm39)	missense	probably damaging	0.97
R9017:Trim9	UTSW	12	70,314,013 (GRCm39)	missense	probably benign
R9475:Trim9	UTSW	12	70,393,228 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TATGCTACGTGGAAAGCAGTAG -3'
(R):5'- TGCAGTAGCTACGATGACCG -3'

Sequencing Primer
(F):5'- GATTATGCAGCACAGGACTTC -3'
(R):5'- TAGCTACGATGACCGGGTGG -3'

Posted On

2020-07-13