Mutagenetix > Incidental Mutation

Incidental Mutation 'R8220:Trim11'

636643

Institutional Source

Beutler Lab

Gene Symbol

Trim11

Ensembl Gene

ENSMUSG00000020455

Gene Name

tripartite motif-containing 11

Synonyms

MMRRC Submission

067638-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R8220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58868919-58882284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58881220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 371 (L371P)

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: L355P

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

SMART Domains

Protein: ENSMUSP00000090749
Gene: ENSMUSG00000020455
AA Change: L355P

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: L371P

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

SMART Domains

Protein: ENSMUSP00000104438
Gene: ENSMUSG00000020455
AA Change: L371P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.1%

Validation Efficiency

100% (78/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	T	16: 88,570,723 (GRCm39)	C106S	probably damaging	Het
Abca13	C	T	11: 9,384,299 (GRCm39)	T3917M	possibly damaging	Het
Abcb8	T	C	5: 24,611,783 (GRCm39)	I533T	possibly damaging	Het
Becn1	C	T	11: 101,187,105 (GRCm39)	R78Q	possibly damaging	Het
Bhlha9	T	C	11: 76,563,703 (GRCm39)	I110T	probably damaging	Het
Cemip	T	C	7: 83,596,368 (GRCm39)	D1132G	probably damaging	Het
Cyth3	T	A	5: 143,687,344 (GRCm39)		probably null	Het
Dcpp2	A	G	17: 24,119,666 (GRCm39)	E160G	possibly damaging	Het
Dock10	C	T	1: 80,506,366 (GRCm39)	G1726S	probably null	Het
Dsel	T	C	1: 111,789,437 (GRCm39)	D366G	probably damaging	Het
Ednrb	A	T	14: 104,059,141 (GRCm39)	L295Q	probably damaging	Het
Etaa1	C	T	11: 17,895,690 (GRCm39)	R809K	probably benign	Het
Fahd1	A	G	17: 25,068,864 (GRCm39)	L71P	probably damaging	Het
Fat1	A	G	8: 45,492,993 (GRCm39)	E3882G	probably null	Het
Frem2	A	T	3: 53,563,928 (GRCm39)	L193*	probably null	Het
Gba2	T	G	4: 43,568,510 (GRCm39)	D652A	probably damaging	Het
Gm5460	C	T	14: 33,767,876 (GRCm39)	P220S	probably damaging	Het
Gm7137	A	T	10: 77,623,785 (GRCm39)	C84S	unknown	Het
Gm8122	G	T	14: 43,090,174 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,805,922 (GRCm39)	S187G	probably benign	Het
Hyal5	A	T	6: 24,876,879 (GRCm39)	I251L	probably benign	Het
Igf2r	A	T	17: 12,910,958 (GRCm39)	S1953R	probably benign	Het
Igkc	C	A	6: 70,703,666 (GRCm39)	N82K		Het
Il18	T	A	9: 50,486,616 (GRCm39)	M15K	possibly damaging	Het
Insr	T	A	8: 3,208,702 (GRCm39)	E1253V	probably benign	Het
Itgax	A	G	7: 127,730,090 (GRCm39)	Q82R	probably benign	Het
Kcnn3	A	G	3: 89,568,548 (GRCm39)	I609V	probably benign	Het
Klk14	A	G	7: 43,343,498 (GRCm39)	D110G	probably damaging	Het
Lamb3	T	A	1: 193,016,556 (GRCm39)	L679Q	probably damaging	Het
Lgsn	C	T	1: 31,235,881 (GRCm39)	A115V	probably benign	Het
Lipt1	C	T	1: 37,914,706 (GRCm39)	T254M	probably damaging	Het
Lrrc3b	T	C	14: 15,358,004 (GRCm38)	T201A	probably damaging	Het
Lrrc49	T	A	9: 60,517,613 (GRCm39)	D432V	probably benign	Het
Meltf	A	G	16: 31,706,233 (GRCm39)	N239S	probably benign	Het
Mki67	G	A	7: 135,299,850 (GRCm39)	A1728V	probably benign	Het
Mms22l	T	A	4: 24,536,375 (GRCm39)	L615I	probably damaging	Het
Mtcl3	C	T	10: 29,023,264 (GRCm39)	Q204*	probably null	Het
Mttp	C	A	3: 137,829,609 (GRCm39)	G93V	probably benign	Het
Muc4	A	T	16: 32,575,701 (GRCm39)	T1734S	unknown	Het
Myh9	C	T	15: 77,648,747 (GRCm39)	R1703Q	possibly damaging	Het
N4bp1	T	C	8: 87,571,315 (GRCm39)	*894W	probably null	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Nup43	C	T	10: 7,552,097 (GRCm39)	A295V	probably benign	Het
Or1af1	T	C	2: 37,109,791 (GRCm39)	C97R	probably benign	Het
Or4b12	T	C	2: 90,096,387 (GRCm39)	H129R	probably benign	Het
Or7g32	G	T	9: 19,408,317 (GRCm39)	S91I	probably damaging	Het
Or8k3	C	T	2: 86,059,309 (GRCm39)	G2E	probably benign	Het
Or9m2	C	T	2: 87,820,496 (GRCm39)	L14F	probably damaging	Het
Pcdha11	A	G	18: 37,139,624 (GRCm39)	T418A	probably benign	Het
Pdzd2	T	C	15: 12,592,249 (GRCm39)	K132E	probably damaging	Het
Pira13	T	C	7: 3,825,903 (GRCm39)	E322G	unknown	Het
Plec	C	T	15: 76,062,497 (GRCm39)	R2480H	possibly damaging	Het
Plscr2	G	A	9: 92,177,713 (GRCm39)	G293D	probably damaging	Het
Prr23a4	A	G	9: 98,785,581 (GRCm39)	D82G	probably benign	Het
Ptchd4	A	G	17: 42,813,554 (GRCm39)	H485R	probably benign	Het
Rbbp9	A	T	2: 144,389,986 (GRCm39)	M59K	probably null	Het
Rest	G	A	5: 77,430,325 (GRCm39)	A915T	probably benign	Het
Rhbdf1	C	T	11: 32,164,563 (GRCm39)	A168T	probably benign	Het
Scamp2	A	T	9: 57,484,953 (GRCm39)	Q53L	probably benign	Het
Scn2a	T	C	2: 65,520,620 (GRCm39)	F539L	probably benign	Het
Sdr16c6	A	T	4: 4,076,872 (GRCm39)	I9N	probably benign	Het
Slc23a3	T	A	1: 75,110,511 (GRCm39)		probably benign	Het
Slc6a19	A	G	13: 73,833,889 (GRCm39)	S390P	probably damaging	Het
Snx11	C	T	11: 96,661,885 (GRCm39)	R99Q	probably damaging	Het
Suclg2	T	A	6: 95,565,927 (GRCm39)	I189F	possibly damaging	Het
Tedc1	T	C	12: 113,120,375 (GRCm39)		probably null	Het
Timeless	A	T	10: 128,082,265 (GRCm39)	R598W	probably damaging	Het
Tm9sf3	A	T	19: 41,203,526 (GRCm39)	N583K	possibly damaging	Het
Tox3	A	G	8: 90,984,708 (GRCm39)	V157A	probably damaging	Het
Tpr	G	T	1: 150,308,164 (GRCm39)	V1640L	probably benign	Het
Trav7-4	C	T	14: 53,699,102 (GRCm39)	A83V	probably benign	Het
Trdn	A	G	10: 33,326,981 (GRCm39)	K590R	possibly damaging	Het
Trim5	T	A	7: 103,926,033 (GRCm39)	Q176L	probably damaging	Het
Tubgcp2	T	C	7: 139,586,053 (GRCm39)	H412R	possibly damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Ush2a	T	A	1: 188,460,863 (GRCm39)	V2708E	probably damaging	Het
Vmn1r87	T	A	7: 12,865,427 (GRCm39)	T287S	possibly damaging	Het
Zbtb7a	A	G	10: 80,980,838 (GRCm39)	D344G	probably damaging	Het
Zfp560	G	T	9: 20,260,348 (GRCm39)	N171K	probably benign	Het
Zfp579	A	T	7: 4,996,850 (GRCm39)	C354S	probably benign	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
R7389:Trim11	UTSW	11	58,881,481 (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
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'- CCTCAGGCTTTTATACAGGGG -3'
(R):5'- GATGGCCAGCTTCATAGTCC -3'

Sequencing Primer
(F):5'- CAGGCTTTTATACAGGGGACATAACC -3'
(R):5'- GGCCAGCTTCATAGTCCAGAAAAATC -3'

Posted On

2020-07-13