Mutagenetix > Incidental Mutation

Incidental Mutation 'R9571:Trim71'

721992

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9571 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114340336-114393437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114342359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 641 (D641G)

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: D641G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: D641G

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: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	G	2: 130,247,482 (GRCm39)	D6G	probably benign	Het
Abl2	T	G	1: 156,469,084 (GRCm39)	S783A	probably damaging	Het
Adamtsl1	A	T	4: 86,117,543 (GRCm39)	T169S	probably benign	Het
Adcy9	A	G	16: 4,141,653 (GRCm39)	V621A	probably benign	Het
Ahnak2	T	C	12: 112,742,510 (GRCm39)	S521G	possibly damaging	Het
Ap2m1	G	A	16: 20,360,037 (GRCm39)	G213R	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arl4d	T	C	11: 101,558,032 (GRCm39)	M186T	possibly damaging	Het
Cep192	A	G	18: 67,952,109 (GRCm39)	D428G	probably damaging	Het
Ckap5	A	C	2: 91,387,953 (GRCm39)	D266A	probably damaging	Het
Crls1	A	T	2: 132,691,793 (GRCm39)	N106I	probably damaging	Het
Csmd3	T	A	15: 48,655,398 (GRCm39)		probably benign	Het
Csnk1a1	A	G	18: 61,704,969 (GRCm39)	R161G	possibly damaging	Het
Cyp4f39	T	A	17: 32,702,196 (GRCm39)	I231N	probably damaging	Het
Ddx31	T	A	2: 28,750,034 (GRCm39)	V352D	probably damaging	Het
Dna2	A	G	10: 62,800,740 (GRCm39)	D758G	probably damaging	Het
Duxf4	G	A	10: 58,071,378 (GRCm39)	L279F	possibly damaging	Het
Gatad2a	C	A	8: 70,370,381 (GRCm39)	A172S	probably benign	Het
Ghsr	G	T	3: 27,426,664 (GRCm39)	R240L	probably benign	Het
Gli3	T	A	13: 15,900,858 (GRCm39)	M1415K	probably benign	Het
Glo1	G	A	17: 30,816,835 (GRCm39)	T107I	possibly damaging	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Gm17334	C	T	11: 53,663,760 (GRCm39)	V34M	unknown	Het
Habp4	T	A	13: 64,322,615 (GRCm39)	M228K	probably benign	Het
Hacl1	A	G	14: 31,344,838 (GRCm39)	V257A	possibly damaging	Het
Ift122	T	G	6: 115,857,628 (GRCm39)	S125A	possibly damaging	Het
Iqce	C	T	5: 140,651,862 (GRCm39)	D704N	possibly damaging	Het
Jcad	T	A	18: 4,673,252 (GRCm39)	L338*	probably null	Het
Kcnj13	T	C	1: 87,316,849 (GRCm39)	D88G	probably damaging	Het
Kif1b	T	C	4: 149,305,098 (GRCm39)	D942G	probably damaging	Het
Marchf8	T	A	6: 116,383,237 (GRCm39)	S271T	probably benign	Het
Meis1	A	G	11: 18,961,378 (GRCm39)	L165S	probably damaging	Het
Morc2b	T	A	17: 33,355,178 (GRCm39)	T865S	probably benign	Het
Morc3	T	A	16: 93,641,107 (GRCm39)	N46K	possibly damaging	Het
Mpzl1	C	T	1: 165,429,374 (GRCm39)	C219Y	probably benign	Het
Mup5	A	G	4: 61,750,787 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,803 (GRCm39)	W907R	probably benign	Het
Nol6	A	T	4: 41,120,156 (GRCm39)	S491T	probably benign	Het
Or4f53	A	T	2: 111,088,083 (GRCm39)	I208F	probably benign	Het
Or51g1	A	G	7: 102,634,221 (GRCm39)	V50A	probably benign	Het
Or5b121	T	A	19: 13,507,697 (GRCm39)	I264N	probably damaging	Het
Or6c205	C	A	10: 129,087,182 (GRCm39)	P260T	possibly damaging	Het
Osbpl6	T	A	2: 76,425,191 (GRCm39)	M919K	probably benign	Het
Otogl	A	T	10: 107,598,364 (GRCm39)	V2262E	possibly damaging	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcsk7	G	A	9: 45,820,907 (GRCm39)	R113Q	possibly damaging	Het
Pds5b	T	C	5: 150,645,971 (GRCm39)	I143T	probably damaging	Het
Polr2m	T	C	9: 71,386,710 (GRCm39)	E357G	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptprt	A	G	2: 161,395,732 (GRCm39)	V1167A	probably benign	Het
Rbm11	G	A	16: 75,397,543 (GRCm39)	E158K	possibly damaging	Het
Sall2	A	T	14: 52,551,830 (GRCm39)	V455E	probably damaging	Het
Sar1b	T	A	11: 51,680,064 (GRCm39)	L130Q	probably damaging	Het
Slc35f6	A	G	5: 30,815,180 (GRCm39)	N369S	possibly damaging	Het
Slc39a12	A	T	2: 14,412,380 (GRCm39)	M351L	probably benign	Het
Taf15	T	A	11: 83,395,487 (GRCm39)	Y397*	probably null	Het
Tmprss11e	A	T	5: 86,875,149 (GRCm39)	V39D	probably damaging	Het
Trpc3	T	A	3: 36,694,909 (GRCm39)	T682S	probably damaging	Het
Tsen54	T	C	11: 115,707,933 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,445,960 (GRCm39)	N646D	possibly damaging	Het
Vip	T	C	10: 5,590,661 (GRCm39)	F12L	probably benign	Het
Vmn1r39	A	T	6: 66,781,572 (GRCm39)	F249I	probably benign	Het
Vmn2r106	A	T	17: 20,505,641 (GRCm39)	S18T	probably benign	Het
Vmn2r97	G	T	17: 19,149,919 (GRCm39)	V436L	probably benign	Het
Washc2	T	C	6: 116,237,631 (GRCm39)		probably null	Het
Ykt6	T	C	11: 5,914,613 (GRCm39)	V171A	possibly damaging	Het
Zfp658	A	G	7: 43,222,139 (GRCm39)	D138G	possibly 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
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
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'- ATTCACTGCTACATCCCACG -3'
(R):5'- CTTCAAGGTCGTGGTCAAGTCG -3'

Sequencing Primer
(F):5'- TCCCACGGGTAGTTAAACTGC -3'
(R):5'- CTGAGCTTCGGCAGTGAAG -3'

Posted On

2022-08-09