Mutagenetix > Incidental Mutation

Incidental Mutation 'R7389:Trim11'

573313

Institutional Source

Beutler Lab

Gene Symbol

Trim11

Ensembl Gene

ENSMUSG00000020455

Gene Name

tripartite motif-containing 11

Synonyms

MMRRC Submission

045471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R7389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58868919-58882284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58881481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 458 (S458L)

Ref Sequence

ENSEMBL: ENSMUSP00000104438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047441] [ENSMUST00000093061] [ENSMUST00000108809] [ENSMUST00000108810]

AlphaFold

Q99PQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000047441

SMART Domains

Protein: ENSMUSP00000038264
Gene: ENSMUSG00000061462

Domain	Start	End	E-Value	Type
IGc2	21	88	8e-12	SMART
IGc2	121	190	8.31e-10	SMART
low complexity region	191	207	N/A	INTRINSIC
IGc2	248	316	4.63e-8	SMART
IG	337	417	5.32e-8	SMART
IG_like	425	506	1.5e2	SMART
FN3	510	596	2.11e-9	SMART
IG	711	790	2.39e-1	SMART
IGc2	876	942	2.54e-5	SMART
IGc2	968	1034	2.54e-5	SMART
IGc2	1060	1126	4.49e-6	SMART
IGc2	1152	1218	7.82e-6	SMART
IGc2	1244	1310	5.16e-6	SMART
IGc2	1336	1402	1.93e-5	SMART
IGc2	1428	1494	1.93e-5	SMART
IGc2	1520	1586	1.93e-5	SMART
IGc2	1612	1678	1.93e-5	SMART
IGc2	1704	1770	1.93e-5	SMART
IGc2	1796	1862	7.94e-7	SMART
IG	1882	1962	5.37e-4	SMART
IG	1972	2051	9.93e-8	SMART
IG	2062	2141	2.48e-8	SMART
IG	2151	2230	3.89e-1	SMART
IG	2240	2319	1.92e0	SMART
IG	2329	2407	6.45e-7	SMART
IG	2452	2531	1.22e-7	SMART
IGc2	2637	2703	9.93e-8	SMART
low complexity region	2705	2716	N/A	INTRINSIC
IG	2720	2799	2.44e0	SMART
IGc2	2815	2881	2.1e-6	SMART
IG	2898	2979	2.86e0	SMART
IGc2	2995	3061	8.38e-6	SMART
IG	3078	3157	1.2e-6	SMART
IG	3167	3248	1.42e-3	SMART
IGc2	3264	3330	3.85e-5	SMART
IGc2	3353	3419	3.13e-5	SMART
IGc2	3442	3507	3.3e-4	SMART
IGc2	3530	3595	5.84e-5	SMART
IGc2	3618	3683	1.29e-6	SMART
IG_like	3706	3771	3.16e-1	SMART
IGc2	3779	3844	1.46e-5	SMART
IGc2	3867	3932	1.56e-5	SMART
IGc2	3955	4020	1.19e-5	SMART
IGc2	4043	4108	1.93e-5	SMART
IG	4125	4203	1.85e-7	SMART
IGc2	4219	4285	5.08e-5	SMART
IGc2	4308	4374	1.11e-5	SMART
IGc2	4397	4465	6.71e-5	SMART
IG	4482	4564	2.06e-5	SMART
IG	4574	4655	5.01e-4	SMART
IG	4664	4746	1.04e-1	SMART
FN3	4749	4831	2.44e-14	SMART
IG	4858	4940	3.68e-2	SMART
IQ	5100	5122	3.65e-4	SMART
IGc2	5139	5207	8.72e-4	SMART
low complexity region	5215	5231	N/A	INTRINSIC
low complexity region	5232	5248	N/A	INTRINSIC
low complexity region	5251	5274	N/A	INTRINSIC
IGc2	5369	5437	3.25e-12	SMART
low complexity region	5450	5466	N/A	INTRINSIC
IG	5496	5580	1.55e0	SMART
IGc2	5612	5685	1.82e-6	SMART
low complexity region	5799	5829	N/A	INTRINSIC
SH3	5832	5895	1.22e0	SMART
Pfam:RhoGEF	5926	6104	4.5e-21	PFAM
PH	6125	6235	2.74e-11	SMART
IGc2	6255	6323	3.73e-12	SMART
IGc2	6349	6418	1.18e-14	SMART
IGc2	6464	6531	1.7e-6	SMART
S_TKc	6562	6815	1.66e-79	SMART
Blast:STYKc	6843	6935	5e-39	BLAST
low complexity region	6939	6954	N/A	INTRINSIC
low complexity region	7013	7029	N/A	INTRINSIC
low complexity region	7146	7161	N/A	INTRINSIC
low complexity region	7199	7219	N/A	INTRINSIC
low complexity region	7499	7514	N/A	INTRINSIC
IGc2	7538	7606	6.3e-10	SMART
FN3	7620	7698	9.33e-2	SMART
STYKc	7736	7988	8.55e-41	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000093061
AA Change: S442L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090749
Gene: ENSMUSG00000020455
AA Change: S442L

Domain	Start	End	E-Value	Type
RING	16	56	3.05e-9	SMART
BBOX	87	127	5.81e-6	SMART
coiled coil region	137	207	N/A	INTRINSIC
PRY	285	337	4.1e-24	SMART
SPRY	338	457	2.58e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108809

SMART Domains

Protein: ENSMUSP00000104437
Gene: ENSMUSG00000020455

Domain	Start	End	E-Value	Type
RING	16	56	3.05e-9	SMART
BBOX	87	127	5.81e-6	SMART
coiled coil region	137	207	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108810
AA Change: S458L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104438
Gene: ENSMUSG00000020455
AA Change: S458L

Domain	Start	End	E-Value	Type
RING	16	56	3.05e-9	SMART
BBOX	87	127	5.81e-6	SMART
coiled coil region	137	207	N/A	INTRINSIC
PRY	301	353	4.1e-24	SMART
SPRY	354	473	2.58e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138587

SMART Domains

Protein: ENSMUSP00000121092
Gene: ENSMUSG00000061462

Domain	Start	End	E-Value	Type
IG	2	83	1.28e-1	SMART
low complexity region	186	216	N/A	INTRINSIC
SH3	219	282	1.22e0	SMART
Pfam:RhoGEF	313	491	6.1e-22	PFAM
PH	512	622	2.74e-11	SMART
IGc2	642	710	3.73e-12	SMART
IGc2	736	805	1.18e-14	SMART
low complexity region	843	857	N/A	INTRINSIC
IGc2	985	1052	1.7e-6	SMART
S_TKc	1083	1336	1.66e-79	SMART
Blast:STYKc	1364	1456	1e-38	BLAST
low complexity region	1460	1475	N/A	INTRINSIC
low complexity region	1534	1550	N/A	INTRINSIC
low complexity region	1667	1682	N/A	INTRINSIC
low complexity region	1720	1740	N/A	INTRINSIC
low complexity region	2020	2035	N/A	INTRINSIC
IGc2	2059	2127	6.3e-10	SMART
FN3	2141	2219	9.33e-2	SMART
STYKc	2257	2509	8.55e-41	SMART

Meta Mutation Damage Score

0.3943

Coding Region Coverage

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

Validation Efficiency

98% (49/50)

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 the nucleus and the cytoplasm. Its function has not been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	A	14: 25,873,312 (GRCm39)	P182Q	probably damaging	Het
Asns	C	A	6: 7,689,291 (GRCm39)	L70F	probably damaging	Het
Cntrl	A	T	2: 35,017,529 (GRCm39)	K445N	probably benign	Het
Cyp2c50	G	T	19: 40,079,107 (GRCm39)	R150L	probably benign	Het
Dqx1	G	T	6: 83,041,775 (GRCm39)	S539I	probably null	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epha3	T	C	16: 63,593,347 (GRCm39)	E247G	probably damaging	Het
Etl4	C	T	2: 20,789,904 (GRCm39)	Q801*	probably null	Het
Fabp2	G	T	3: 122,689,014 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,819,140 (GRCm39)	V4958I	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Hdgfl2	T	G	17: 56,406,389 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,894,785 (GRCm39)	D1927G	probably benign	Het
Ino80	A	C	2: 119,273,010 (GRCm39)	S489A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrriq3	A	G	3: 154,893,741 (GRCm39)	T481A	probably benign	Het
Map2k3	A	T	11: 60,822,862 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,717,638 (GRCm39)	T617A	probably benign	Het
Mybpc2	T	G	7: 44,155,028 (GRCm39)	T960P	probably benign	Het
Ncoa2	T	C	1: 13,257,049 (GRCm39)	N150S	possibly damaging	Het
Nup153	A	T	13: 46,854,463 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,927,226 (GRCm39)	L5498P	probably benign	Het
Or5b21	G	T	19: 12,839,981 (GRCm39)	V281L	probably benign	Het
Or5v1b	A	G	17: 37,841,548 (GRCm39)	R227G	possibly damaging	Het
Paqr8	C	A	1: 21,005,389 (GRCm39)	P181Q	probably damaging	Het
Pcdhgb4	T	C	18: 37,855,416 (GRCm39)	Y604H	probably damaging	Het
Pja2	T	A	17: 64,604,722 (GRCm39)	E487V	probably damaging	Het
Pnpla6	C	T	8: 3,593,981 (GRCm39)	R1331*	probably null	Het
Ppl	T	A	16: 4,924,577 (GRCm39)		probably null	Het
Rhbdl3	T	A	11: 80,237,665 (GRCm39)	M299K	possibly damaging	Het
Scart1	A	G	7: 139,808,704 (GRCm39)	K872E	possibly damaging	Het
Slc26a9	A	G	1: 131,696,986 (GRCm39)	*791W	probably null	Het
Slc7a2	A	G	8: 41,365,552 (GRCm39)	Y461C	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Ssh1	A	T	5: 114,096,892 (GRCm39)	I205N	probably benign	Het
Stab1	C	T	14: 30,869,196 (GRCm39)	V1511I	probably benign	Het
Tex19.1	T	C	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tinf2	G	T	14: 55,918,167 (GRCm39)		probably null	Het
Tmeff1	A	G	4: 48,617,097 (GRCm39)		probably null	Het
Tnip2	G	T	5: 34,671,145 (GRCm39)	Q33K	probably benign	Het
Traf3	C	A	12: 111,204,187 (GRCm39)	L59M	probably damaging	Het
Trav14d-3-dv8	T	C	14: 53,316,328 (GRCm39)	Y63H	possibly damaging	Het
Tspan18	A	T	2: 93,040,272 (GRCm39)	V161E	probably benign	Het
Usf3	T	A	16: 44,038,304 (GRCm39)	V928E	probably benign	Het
Usp29	G	A	7: 6,966,457 (GRCm39)	V767I	possibly damaging	Het
Usp34	T	G	11: 23,295,200 (GRCm39)	F287L		Het
Vmn1r213	T	C	13: 23,196,556 (GRCm39)	C380R	probably benign	Het
Zfyve9	A	G	4: 108,550,515 (GRCm39)		probably null	Het

Other mutations in Trim11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Trim11	APN	11	58,881,523 (GRCm39)	missense	probably benign
R0453:Trim11	UTSW	11	58,881,361 (GRCm39)	missense	probably damaging	1.00
R0565:Trim11	UTSW	11	58,881,410 (GRCm39)	missense	probably damaging	1.00
R2061:Trim11	UTSW	11	58,872,889 (GRCm39)	missense	probably damaging	1.00
R4783:Trim11	UTSW	11	58,879,750 (GRCm39)	missense	probably null	1.00
R5004:Trim11	UTSW	11	58,872,164 (GRCm39)	critical splice donor site	probably benign
R5847:Trim11	UTSW	11	58,881,419 (GRCm39)	missense	probably damaging	1.00
R6027:Trim11	UTSW	11	58,869,289 (GRCm39)	missense	possibly damaging	0.76
R6928:Trim11	UTSW	11	58,879,669 (GRCm39)	missense	probably damaging	1.00
R7128:Trim11	UTSW	11	58,869,103 (GRCm39)	missense	probably damaging	1.00
R7485:Trim11	UTSW	11	58,869,463 (GRCm39)	missense	probably benign	0.00
R7535:Trim11	UTSW	11	58,872,891 (GRCm39)	missense	probably damaging	0.99
R7629:Trim11	UTSW	11	58,869,160 (GRCm39)	missense	probably damaging	1.00
R7734:Trim11	UTSW	11	58,869,180 (GRCm39)	missense	probably damaging	1.00
R8220:Trim11	UTSW	11	58,881,220 (GRCm39)	missense	probably damaging	1.00
R8229:Trim11	UTSW	11	58,872,167 (GRCm39)	splice site	probably benign
R9514:Trim11	UTSW	11	58,878,477 (GRCm39)	missense	unknown
R9709:Trim11	UTSW	11	58,872,864 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GCAATGGGTTCTGGATCCTG -3'
(R):5'- GGTCAGAAAGGCACTGTGTG -3'

Sequencing Primer
(F):5'- CCTGGGGAGTTTCTATAATTCCAATG -3'
(R):5'- GCTCCTCCTAATGCGCACAG -3'

Posted On

2019-09-13