Mutagenetix > Incidental Mutation

Incidental Mutation 'R7922:Trim71'

648456

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

045969-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114340336-114393437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114342153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 710 (R710C)

Ref Sequence

ENSEMBL: ENSMUSP00000107447 (fasta)

Gene Model

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

AlphaFold

Q1PSW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000111816
AA Change: R710C

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

SMART Domains

Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: R710C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,211,180 (GRCm39)	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 69,083,067 (GRCm39)		probably null	Het
Abi3	A	T	11: 95,723,619 (GRCm39)	Y342N	unknown	Het
Adk	G	A	14: 21,368,111 (GRCm39)	V195I	probably benign	Het
Ago2	C	T	15: 72,998,375 (GRCm39)	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,835,615 (GRCm39)	I1077V	probably benign	Het
Arap1	A	T	7: 101,053,621 (GRCm39)	K1317*	probably null	Het
Auts2	T	A	5: 131,469,211 (GRCm39)	D493V		Het
Baz1b	A	T	5: 135,260,533 (GRCm39)	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,546,957 (GRCm39)	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,493,858 (GRCm39)	M511K	probably benign	Het
Cdh23	T	A	10: 60,218,485 (GRCm39)	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,380,962 (GRCm39)	L427V	unknown	Het
Cnga1	A	G	5: 72,762,225 (GRCm39)	F430L	possibly damaging	Het
Csnk2a1-ps3	A	T	1: 156,352,562 (GRCm39)	L254F	probably damaging	Het
Dnhd1	A	T	7: 105,317,721 (GRCm39)	D472V	probably damaging	Het
Dock2	T	A	11: 34,598,154 (GRCm39)	E339V	probably benign	Het
Eif3a	A	T	19: 60,764,280 (GRCm39)	V379E	probably damaging	Het
Erich4	T	A	7: 25,315,168 (GRCm39)	N36Y	probably damaging	Het
Frem2	T	C	3: 53,560,725 (GRCm39)	T1261A	probably damaging	Het
Fzd6	A	T	15: 38,894,503 (GRCm39)	D223V	probably damaging	Het
Gabra2	A	T	5: 71,165,315 (GRCm39)	Y218*	probably null	Het
Gcn1	G	T	5: 115,752,527 (GRCm39)	M2177I	probably benign	Het
Ghr	G	A	15: 3,370,556 (GRCm39)	T103I	possibly damaging	Het
Gipc1	T	C	8: 84,387,857 (GRCm39)	V79A	probably benign	Het
Gm13272	T	A	4: 88,698,577 (GRCm39)	V164D	probably damaging	Het
Gramd4	C	A	15: 86,016,159 (GRCm39)	H503Q	probably benign	Het
Gstm4	A	T	3: 107,951,987 (GRCm39)	M1K	probably null	Het
Heatr5b	T	A	17: 79,067,988 (GRCm39)	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,836,978 (GRCm39)	K826*	probably null	Het
Hoxa9	T	C	6: 52,201,289 (GRCm39)	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,679,177 (GRCm39)	I46F	possibly damaging	Het
Ints2	T	A	11: 86,135,453 (GRCm39)	R320S	probably benign	Het
Iscu	A	T	5: 113,912,343 (GRCm39)	N46I	probably damaging	Het
Iscu	G	A	5: 113,912,410 (GRCm39)	R60Q	unknown	Het
Kcnk3	A	T	5: 30,745,875 (GRCm39)	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,754,157 (GRCm39)	S1228R	unknown	Het
Mbl2	T	A	19: 30,216,638 (GRCm39)	L150Q	probably damaging	Het
Med13	A	T	11: 86,161,831 (GRCm39)	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,229,275 (GRCm39)	L246*	probably null	Het
Muc16	T	C	9: 18,496,121 (GRCm39)	Q6690R	probably benign	Het
Myh10	T	A	11: 68,699,719 (GRCm39)	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,218,454 (GRCm39)	M237V	probably benign	Het
Olfml1	A	G	7: 107,170,356 (GRCm39)	Y81C	probably damaging	Het
Or4q3	A	G	14: 50,583,872 (GRCm39)	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,849,226 (GRCm39)	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,897,002 (GRCm39)	F691L	probably benign	Het
Pik3c2a	A	G	7: 115,990,517 (GRCm39)	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,424,701 (GRCm39)	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,799,013 (GRCm39)	H2250Y		Het
Pkd1l1	A	G	11: 8,859,857 (GRCm39)	S1034P		Het
Plcd1	C	A	9: 118,903,720 (GRCm39)	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 21,174,879 (GRCm39)	T58A	probably benign	Het
Ppp5c	T	C	7: 16,761,725 (GRCm39)	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,424,950 (GRCm39)	F82L	probably benign	Het
Prkag3	A	T	1: 74,780,416 (GRCm39)	S416R	probably benign	Het
Rab3gap2	T	C	1: 184,982,117 (GRCm39)	C390R	probably benign	Het
Rhot1	A	G	11: 80,156,629 (GRCm39)	T655A	probably benign	Het
Rorc	A	G	3: 94,298,495 (GRCm39)	I348V	probably damaging	Het
Ryr1	A	T	7: 28,796,649 (GRCm39)	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,478,626 (GRCm39)		probably null	Het
Serpinb3c	G	A	1: 107,199,744 (GRCm39)	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,326,438 (GRCm39)	M70K	probably damaging	Het
Sinhcaf	T	A	6: 148,827,644 (GRCm39)	T125S	probably benign	Het
Slc7a4	C	T	16: 17,391,230 (GRCm39)	V607I	probably benign	Het
Spop	A	T	11: 95,362,154 (GRCm39)	N62Y	probably damaging	Het
Spout1	A	G	2: 30,066,823 (GRCm39)	F130S	probably benign	Het
Tab1	A	G	15: 80,043,066 (GRCm39)	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,899,076 (GRCm39)		probably null	Het
Tnxb	G	C	17: 34,933,577 (GRCm39)	K2332N	probably damaging	Het
Togaram1	T	C	12: 65,014,512 (GRCm39)	Y588H	probably damaging	Het
Tsen54	C	T	11: 115,711,608 (GRCm39)	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812 (GRCm39)	N235K	unknown	Het
Utrn	C	A	10: 12,543,271 (GRCm39)	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 20,867,587 (GRCm39)	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 19,901,636 (GRCm39)	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,831,683 (GRCm39)	R369W	probably damaging	Het
Vwa7	G	T	17: 35,243,409 (GRCm39)	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,159,647 (GRCm39)	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,874 (GRCm39)	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,600,511 (GRCm39)	V415D	possibly damaging	Het
Zfp553	A	G	7: 126,835,768 (GRCm39)	H441R	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
R6786:Trim71	UTSW	9	114,341,772 (GRCm39)	missense	probably benign	0.05
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
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'- GATTGGCAATCAGGGTGAATAACC -3'
(R):5'- ACAAGTTTGGTACCCTTGGG -3'

Sequencing Primer
(F):5'- TAACCAGAAGCCGGTGGTTG -3'
(R):5'- CTCGTCCTGGGCAGTTTGAC -3'

Posted On

2020-09-15