Mutagenetix > Incidental Mutation

Incidental Mutation 'R5451:Trim9'

434597

Institutional Source

Beutler Lab

Gene Symbol

Trim9

Ensembl Gene

ENSMUSG00000021071

Gene Name

tripartite motif-containing 9

Synonyms

MMRRC Submission

043016-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R5451 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

70244533-70347614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70346829 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 114 (S114P)

Ref Sequence

ENSEMBL: ENSMUSP00000152887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110520] [ENSMUST00000110522] [ENSMUST00000167755] [ENSMUST00000221041] [ENSMUST00000221370] [ENSMUST00000222316] [ENSMUST00000223160]

AlphaFold

Q8C7M3

Predicted Effect

probably benign
Transcript: ENSMUST00000110520
AA Change: S114P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: S114P

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 benign
Transcript: ENSMUST00000110522
AA Change: S114P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: S114P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167755
AA Change: S114P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127081
Gene: ENSMUSG00000021071
AA Change: S114P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221041
AA Change: S114P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

unknown
Transcript: ENSMUST00000221294
AA Change: S87P

Predicted Effect

probably benign
Transcript: ENSMUST00000221370
AA Change: S114P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222316
AA Change: S114P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000223160
AA Change: S114P

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223521

Meta Mutation Damage Score

0.1079

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (52/54)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	G	6: 73,468,867	V233A	probably benign	Het
Abca12	A	G	1: 71,294,917	F1142S	possibly damaging	Het
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Calhm2	T	A	19: 47,132,875	Y285F	possibly damaging	Het
Casr	T	C	16: 36,509,908	T355A	probably damaging	Het
Clca1	T	C	3: 145,027,986	Y63C	probably damaging	Het
Cntnap5a	T	C	1: 115,685,143	S3P	probably benign	Het
Col27a1	G	A	4: 63,225,239	G388D	probably damaging	Het
Cwh43	T	C	5: 73,431,913	M447T	probably benign	Het
Dnah7b	G	A	1: 46,242,019	G2747S	possibly damaging	Het
Fam58b	T	A	11: 78,751,289	Q125L	possibly damaging	Het
Fbxo7	A	G	10: 86,029,037	S51G	probably benign	Het
Gabbr2	T	A	4: 46,684,294	Y660F	probably benign	Het
Galnt15	A	G	14: 32,029,911	E140G	probably benign	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm21964	A	T	8: 110,109,871	I160F	probably damaging	Het
Gsap	T	A	5: 21,217,447	L138Q	probably damaging	Het
Igflr1	A	G	7: 30,566,322	N57S	possibly damaging	Het
Ighv13-2	A	G	12: 114,357,853	F89L	probably damaging	Het
Irf2bpl	A	G	12: 86,882,072	V609A	probably benign	Het
Lingo1	T	G	9: 56,620,427	I293L	probably damaging	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lsm2	T	C	17: 34,982,209		probably benign	Het
Map4	C	T	9: 110,037,783		probably benign	Het
Micall1	T	A	15: 79,126,904		probably null	Het
Mpp7	T	C	18: 7,442,855	D156G	probably null	Het
Mybbp1a	A	G	11: 72,448,113	D822G	probably damaging	Het
Naip2	A	G	13: 100,188,860	V180A	probably benign	Het
Nol10	T	A	12: 17,359,102	Y159*	probably null	Het
Nphp3	A	G	9: 104,042,022	T1290A	probably benign	Het
Olfr1107	T	C	2: 87,071,997	I46V	probably damaging	Het
Olfr1112	T	A	2: 87,192,452	V255E	probably damaging	Het
Olfr835	T	C	9: 19,035,491	Y123H	probably damaging	Het
Pcsk5	T	A	19: 17,463,356	Y1290F	possibly damaging	Het
Rab42	T	C	4: 132,302,516	N132D	probably benign	Het
Rfx3	T	G	19: 27,849,959	T76P	probably damaging	Het
Rps13-ps2	G	T	7: 88,530,828		noncoding transcript	Het
Slc12a3	A	G	8: 94,357,027	D894G	possibly damaging	Het
Slc25a15	G	A	8: 22,389,967	T54I	probably benign	Het
Slco1c1	A	T	6: 141,559,878	Q461L	probably benign	Het
Slfn5	T	G	11: 82,960,086	I403R	probably damaging	Het
Srxn1	G	A	2: 152,105,879	V66M	probably damaging	Het
Tbc1d32	T	A	10: 56,195,475	T318S	possibly damaging	Het
Tiam2	G	T	17: 3,428,996	R668M	probably damaging	Het
Trgj4	G	T	13: 19,342,165		probably benign	Het
Trp53i11	T	C	2: 93,199,855	L169P	possibly damaging	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Vmn1r190-ps	A	G	13: 22,144,731		noncoding transcript	Het

Other mutations in Trim9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Trim9	APN	12	70347113	missense	probably damaging	0.98
IGL01618:Trim9	APN	12	70248351	missense	probably benign
IGL01794:Trim9	APN	12	70281880	missense	probably damaging	1.00
IGL03101:Trim9	APN	12	70346654	missense	probably damaging	1.00
IGL03184:Trim9	APN	12	70251221	missense	probably damaging	0.99
E0354:Trim9	UTSW	12	70272459	missense	probably benign	0.01
IGL03098:Trim9	UTSW	12	70280693	missense	possibly damaging	0.95
R0518:Trim9	UTSW	12	70346585	missense	probably damaging	0.99
R0622:Trim9	UTSW	12	70346604	missense	probably damaging	1.00
R0941:Trim9	UTSW	12	70248263	missense	probably damaging	0.97
R1022:Trim9	UTSW	12	70252017	splice site	probably null
R1024:Trim9	UTSW	12	70252017	splice site	probably null
R1204:Trim9	UTSW	12	70346727	missense	probably damaging	1.00
R1439:Trim9	UTSW	12	70251093	missense	probably damaging	1.00
R1530:Trim9	UTSW	12	70272428	missense	probably damaging	0.98
R1613:Trim9	UTSW	12	70248395	missense	probably damaging	1.00
R1661:Trim9	UTSW	12	70255113	missense	probably damaging	0.99
R1665:Trim9	UTSW	12	70255113	missense	probably damaging	0.99
R1722:Trim9	UTSW	12	70248374	missense	probably benign	0.33
R2097:Trim9	UTSW	12	70347159	missense	probably damaging	1.00
R3082:Trim9	UTSW	12	70255113	missense	possibly damaging	0.93
R3123:Trim9	UTSW	12	70248393	missense	probably damaging	1.00
R3124:Trim9	UTSW	12	70248393	missense	probably damaging	1.00
R3125:Trim9	UTSW	12	70248393	missense	probably damaging	1.00
R3738:Trim9	UTSW	12	70251195	missense	probably damaging	1.00
R4013:Trim9	UTSW	12	70346352	missense	probably damaging	1.00
R4017:Trim9	UTSW	12	70346352	missense	probably damaging	1.00
R4560:Trim9	UTSW	12	70347118	nonsense	probably null
R4734:Trim9	UTSW	12	70248273	missense	probably damaging	1.00
R4748:Trim9	UTSW	12	70248273	missense	probably damaging	1.00
R4749:Trim9	UTSW	12	70248273	missense	probably damaging	1.00
R4777:Trim9	UTSW	12	70347071	missense	probably damaging	1.00
R5027:Trim9	UTSW	12	70346708	missense	probably damaging	0.96
R5471:Trim9	UTSW	12	70346792	missense	possibly damaging	0.93
R6394:Trim9	UTSW	12	70255213	missense	possibly damaging	0.91
R6901:Trim9	UTSW	12	70346639	missense	probably damaging	0.96
R7549:Trim9	UTSW	12	70346941	missense	probably damaging	1.00
R7690:Trim9	UTSW	12	70248343	missense	probably benign
R7895:Trim9	UTSW	12	70255187	missense	probably benign	0.03
R8003:Trim9	UTSW	12	70346834	missense	probably benign	0.39
R8026:Trim9	UTSW	12	70290387	missense	probably benign	0.00
R8223:Trim9	UTSW	12	70251015	missense	probably damaging	0.99
R8956:Trim9	UTSW	12	70346891	missense	probably damaging	0.97
R9017:Trim9	UTSW	12	70267239	missense	probably benign
R9475:Trim9	UTSW	12	70346454	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ACATGACCGTGGCTTCCTTG -3'
(R):5'- CTCACAATTTATGTCAGGCGTGC -3'

Sequencing Primer
(F):5'- CCTTGGGCGCCTTCTCG -3'
(R):5'- ACATCCTGGTGCAGACCC -3'

Posted On

2016-10-06