Mutagenetix > Incidental Mutation

Incidental Mutation 'R4777:Trim9'

368045

Institutional Source

Beutler Lab

Gene Symbol

Trim9

Ensembl Gene

ENSMUSG00000021071

Gene Name

tripartite motif-containing 9

Synonyms

C030048G07Rik

MMRRC Submission

041992-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

R4777 (G1)

Quality Score

190

Status

Not validated

Chromosome

Chromosomal Location

70291307-70394388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70393845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 33 (C33F)

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 damaging
Transcript: ENSMUST00000110520
AA Change: C33F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106149
Gene: ENSMUSG00000021071
AA Change: C33F

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: C33F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106151
Gene: ENSMUSG00000021071
AA Change: C33F

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 damaging
Transcript: ENSMUST00000167755
AA Change: C33F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127081
Gene: ENSMUSG00000021071
AA Change: C33F

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 damaging
Transcript: ENSMUST00000221041
AA Change: C33F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

unknown
Transcript: ENSMUST00000221294
AA Change: C6F

Predicted Effect

probably damaging
Transcript: ENSMUST00000221370
AA Change: C33F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222316
AA Change: C33F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223160
AA Change: C33F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223521

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,503 (GRCm39)	S231R	probably benign	Het
5730455P16Rik	A	T	11: 80,265,041 (GRCm39)	I137N	probably damaging	Het
Abhd10	G	A	16: 45,557,279 (GRCm39)	Q176*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Ankrd36	T	C	11: 5,557,120 (GRCm39)	V356A	probably benign	Het
Atp1a1	A	G	3: 101,502,312 (GRCm39)		probably null	Het
Bmp8b	G	A	4: 123,015,793 (GRCm39)	R260Q	possibly damaging	Het
C2cd3	T	A	7: 100,065,539 (GRCm39)	V775D	possibly damaging	Het
Cacna1b	T	A	2: 24,622,337 (GRCm39)	I216F	probably damaging	Het
Capn5	T	A	7: 97,780,925 (GRCm39)	N284I	probably damaging	Het
Cbr1	C	A	16: 93,406,942 (GRCm39)	D219E	probably benign	Het
Cdca2	C	T	14: 67,950,589 (GRCm39)	R114Q	probably damaging	Het
Cdh20	G	A	1: 109,922,055 (GRCm39)	W49*	probably null	Het
Cep152	C	T	2: 125,406,015 (GRCm39)	V1506I	probably benign	Het
Cfap97	C	T	8: 46,648,334 (GRCm39)	Q537*	probably null	Het
Cpsf2	T	A	12: 101,963,091 (GRCm39)	V385E	probably damaging	Het
Dse	A	G	10: 34,029,584 (GRCm39)	V502A	possibly damaging	Het
Fam171a1	T	A	2: 3,224,550 (GRCm39)	F300L	probably benign	Het
Fnip1	T	G	11: 54,391,382 (GRCm39)	N438K	probably damaging	Het
Fstl5	C	T	3: 76,500,807 (GRCm39)	T412M	probably damaging	Het
Gm11938	T	A	11: 99,494,059 (GRCm39)	Q12L	unknown	Het
Hcls1	G	T	16: 36,775,678 (GRCm39)	A171S	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hydin	G	T	8: 111,137,096 (GRCm39)	C633F	probably damaging	Het
Ica1	A	T	6: 8,644,145 (GRCm39)	D381E	probably benign	Het
Ift74	A	G	4: 94,541,234 (GRCm39)	K220E	probably benign	Het
Igfn1	A	T	1: 135,882,600 (GRCm39)	D2748E	probably benign	Het
Il16	A	C	7: 83,300,104 (GRCm39)	D396E	probably benign	Het
Impdh1	G	T	6: 29,205,201 (GRCm39)	A200E	possibly damaging	Het
Itga4	C	T	2: 79,144,054 (GRCm39)	T647I	possibly damaging	Het
Jpt1	A	T	11: 115,391,497 (GRCm39)	M104K	probably benign	Het
Krt73	C	A	15: 101,702,436 (GRCm39)	A476S	probably benign	Het
Lama3	T	C	18: 12,546,828 (GRCm39)	Y363H	probably damaging	Het
Lgr4	C	T	2: 109,827,027 (GRCm39)	P177L	probably damaging	Het
Lrp2	T	C	2: 69,312,608 (GRCm39)	D2560G	probably damaging	Het
Ly6m	T	C	15: 74,752,532 (GRCm39)	N48S	probably benign	Het
Macf1	A	T	4: 123,270,295 (GRCm39)	F6617I	probably damaging	Het
Mcf2l	T	A	8: 13,068,051 (GRCm39)		probably null	Het
Mcub	T	A	3: 129,763,600 (GRCm39)	Q42L	probably damaging	Het
Mfsd9	C	T	1: 40,820,700 (GRCm39)	V150I	possibly damaging	Het
Myo15b	T	C	11: 115,770,478 (GRCm39)	V96A	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or10aa3	T	G	1: 173,878,244 (GRCm39)	Y102D	probably damaging	Het
Or10g6	T	C	9: 39,933,994 (GRCm39)	F102L	possibly damaging	Het
Or1r1	A	G	11: 73,875,221 (GRCm39)	V71A	probably benign	Het
Pgap6	T	C	17: 26,340,515 (GRCm39)	V633A	probably damaging	Het
Pinlyp	T	A	7: 24,241,568 (GRCm39)	I153F	possibly damaging	Het
Plk2	A	C	13: 110,534,307 (GRCm39)	M296L	probably benign	Het
Plvap	T	C	8: 71,960,630 (GRCm39)	Y262C	probably benign	Het
Ppfia3	C	A	7: 44,990,581 (GRCm39)	G1066V	probably damaging	Het
Prokr1	A	G	6: 87,565,842 (GRCm39)	M1T	probably null	Het
Ptgs2	G	T	1: 149,981,138 (GRCm39)	A474S	probably benign	Het
Pth2r	A	G	1: 65,427,676 (GRCm39)	T450A	possibly damaging	Het
Ranbp6	A	T	19: 29,789,037 (GRCm39)	F438L	probably damaging	Het
Ripor1	A	T	8: 106,341,622 (GRCm39)	Q102L	probably damaging	Het
Rprd2	C	T	3: 95,694,686 (GRCm39)	V116I	probably benign	Het
Sacs	T	C	14: 61,449,258 (GRCm39)	V3768A	probably damaging	Het
Scn8a	T	C	15: 100,913,832 (GRCm39)	Y1075H	probably damaging	Het
Senp3	C	T	11: 69,569,063 (GRCm39)	G366D	probably damaging	Het
Smim1	T	C	4: 154,108,107 (GRCm39)		probably benign	Het
Sptan1	A	G	2: 29,886,447 (GRCm39)	I817V	probably damaging	Het
Stag3	A	T	5: 138,307,461 (GRCm39)		probably benign	Het
Stk17b	A	T	1: 53,810,867 (GRCm39)	H79Q	probably damaging	Het
Svil	A	G	18: 5,088,813 (GRCm39)	K1296E	probably damaging	Het
Tmem117	T	A	15: 94,992,331 (GRCm39)	Y330*	probably null	Het
Tnxb	G	T	17: 34,890,917 (GRCm39)	R420L	probably damaging	Het
Usp29	A	C	7: 6,965,747 (GRCm39)	Y530S	probably benign	Het
Vps26b	T	C	9: 26,921,752 (GRCm39)	T258A	possibly damaging	Het
Vrtn	C	A	12: 84,695,600 (GRCm39)	H117N	probably damaging	Het
Wdr33	C	T	18: 32,014,301 (GRCm39)	H388Y	probably damaging	Het
Zfp451	A	T	1: 33,821,186 (GRCm39)	V222D	possibly damaging	Het
Zfp953	A	G	13: 67,491,193 (GRCm39)	I253T	probably benign	Het
Zfy2	A	G	Y: 2,116,194 (GRCm39)	V282A	probably benign	Het
Zscan29	A	T	2: 120,999,805 (GRCm39)	V132D	probably damaging	Het
Zswim4	G	T	8: 84,963,586 (GRCm39)	D16E	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
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
R8223:Trim9	UTSW	12	70,297,789 (GRCm39)	missense	probably damaging	0.99
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'- TCATCCAGAATGAGGCTGCG -3'
(R):5'- TAAGAAAGCAGCTCTCACGGC -3'

Sequencing Primer
(F):5'- TTGGGCGACTTCTGGCAC -3'
(R):5'- TCACAGAGAGAGCGCATCCTG -3'

Posted On

2015-12-29