Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Trim71'

532382

Institutional Source

Beutler Lab

Gene Symbol

Trim71

Ensembl Gene

ENSMUSG00000079259

Gene Name

tripartite motif-containing 71

Synonyms

lin-41, 2610206G21Rik, mLin41, mlin-41, 636931, LOC382112, Lin41

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114340336-114393437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114341772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 837 (T837S)

Ref Sequence

ENSEMBL: ENSMUSP00000107447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111816] [ENSMUST00000180393]

AlphaFold

Q1PSW8

Predicted Effect

probably benign
Transcript: ENSMUST00000111816
AA Change: T837S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: T837S

Domain	Start	End	E-Value	Type
RING	12	93	7.16e-6	SMART
low complexity region	129	176	N/A	INTRINSIC
BBOX	181	230	1.49e-1	SMART
BBOX	260	301	4.54e-8	SMART
Blast:BBC	325	433	1e-9	BLAST
IG_FLMN	470	570	5.04e-24	SMART
Pfam:NHL	593	620	2.9e-12	PFAM
Pfam:NHL	640	667	1.8e-9	PFAM
Pfam:NHL	687	714	4.4e-12	PFAM
Pfam:NHL	734	761	1.4e-10	PFAM
Pfam:NHL	781	808	4.4e-12	PFAM
Pfam:NHL	828	855	8.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180393

Meta Mutation Damage Score

0.1077

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

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 an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous gene trap mutations of this gene result in failure of cranial neural tube closure and embryonic lethality. Homozygotes for a gene trap allele exhibit exencephaly, abnormal nasal process and facial prominence, reduced brain size, and embryonic or fetal lethality. [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
Actl7a	C	A	4: 56,744,116 (GRCm39)	Y214*	probably null	Het
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Aif1	C	T	17: 35,390,472 (GRCm39)	V93M	probably damaging	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Bcs1l	C	T	1: 74,629,844 (GRCm39)	R224C	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Dock8	A	T	19: 25,160,386 (GRCm39)	H1763L	possibly damaging	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm12695	A	G	4: 96,651,058 (GRCm39)	S132P	probably damaging	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Pkdrej	T	C	15: 85,702,850 (GRCm39)	T1029A	probably benign	Het
Recql	A	T	6: 142,310,278 (GRCm39)	D517E	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Stox2	A	C	8: 47,639,500 (GRCm39)	F898C	probably damaging	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	probably damaging	Het

Other mutations in Trim71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Trim71	APN	9	114,354,083 (GRCm39)	missense	probably benign	0.19
IGL02060:Trim71	APN	9	114,342,321 (GRCm39)	missense	possibly damaging	0.55
R1858:Trim71	UTSW	9	114,392,016 (GRCm39)	missense	possibly damaging	0.86
R2161:Trim71	UTSW	9	114,341,840 (GRCm39)	missense	probably damaging	1.00
R2409:Trim71	UTSW	9	114,342,781 (GRCm39)	missense	possibly damaging	0.89
R3034:Trim71	UTSW	9	114,341,912 (GRCm39)	missense	probably damaging	1.00
R3843:Trim71	UTSW	9	114,344,914 (GRCm39)	missense	probably benign	0.00
R6846:Trim71	UTSW	9	114,354,115 (GRCm39)	missense	probably damaging	1.00
R7524:Trim71	UTSW	9	114,342,230 (GRCm39)	missense	probably benign	0.35
R7559:Trim71	UTSW	9	114,342,110 (GRCm39)	missense	probably damaging	1.00
R7590:Trim71	UTSW	9	114,391,893 (GRCm39)	missense	probably benign	0.02
R7922:Trim71	UTSW	9	114,342,153 (GRCm39)	missense	probably damaging	1.00
R8156:Trim71	UTSW	9	114,342,192 (GRCm39)	missense	probably benign	0.14
R8371:Trim71	UTSW	9	114,344,857 (GRCm39)	missense	probably benign	0.22
R8756:Trim71	UTSW	9	114,342,605 (GRCm39)	missense	possibly damaging	0.62
R8982:Trim71	UTSW	9	114,342,804 (GRCm39)	missense	possibly damaging	0.63
R9571:Trim71	UTSW	9	114,342,359 (GRCm39)	missense	probably damaging	1.00
X0065:Trim71	UTSW	9	114,342,183 (GRCm39)	missense	probably benign	0.07
Z1177:Trim71	UTSW	9	114,342,549 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTAGGACTTAGGCAATGTTGTAC -3'
(R):5'- CACCCTGATTGCCAATCTGC -3'

Sequencing Primer
(F):5'- AGGACTTAGGCAATGTTGTACTTTTG -3'
(R):5'- CCCGCTTCTTGGGTTCGG -3'

Posted On

2018-08-29