Mutagenetix > Incidental Mutation

Incidental Mutation 'R0655:Trp53inp2'

62462

Institutional Source

Beutler Lab

Gene Symbol

Trp53inp2

Ensembl Gene

ENSMUSG00000038375

Gene Name

transformation related protein 53 inducible nuclear protein 2

Synonyms

1110029F20Rik, Tp53inp2

MMRRC Submission

038840-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R0655 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

155223742-155231767 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 155228088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 98 (G98*)

Ref Sequence

ENSEMBL: ENSMUSP00000133880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043126] [ENSMUST00000043237] [ENSMUST00000109670] [ENSMUST00000134218] [ENSMUST00000151466] [ENSMUST00000174685]

AlphaFold

Q8CFU8

Predicted Effect

probably benign
Transcript: ENSMUST00000043126

SMART Domains

Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369

Domain	Start	End	E-Value	Type
Pfam:Nucleic_acid_bd	47	190	3.3e-55	PFAM
coiled coil region	256	296	N/A	INTRINSIC
low complexity region	375	383	N/A	INTRINSIC
internal_repeat_1	450	597	3.31e-5	PROSPERO
low complexity region	615	630	N/A	INTRINSIC
internal_repeat_1	636	793	3.31e-5	PROSPERO
low complexity region	844	860	N/A	INTRINSIC
low complexity region	909	931	N/A	INTRINSIC
low complexity region	986	998	N/A	INTRINSIC
low complexity region	1002	1046	N/A	INTRINSIC
low complexity region	1126	1139	N/A	INTRINSIC
low complexity region	1258	1273	N/A	INTRINSIC
low complexity region	1328	1351	N/A	INTRINSIC
low complexity region	1543	1564	N/A	INTRINSIC
low complexity region	1578	1599	N/A	INTRINSIC
low complexity region	1607	1618	N/A	INTRINSIC
low complexity region	1808	1825	N/A	INTRINSIC
low complexity region	1894	1908	N/A	INTRINSIC
low complexity region	2043	2053	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000043237
AA Change: G138*

SMART Domains

Protein: ENSMUSP00000037627
Gene: ENSMUSG00000038375
AA Change: G138*

Domain	Start	End	E-Value	Type
Pfam:DOR	50	217	5.5e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109670

SMART Domains

Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369

Domain	Start	End	E-Value	Type
Pfam:Nucleic_acid_bd	45	195	3.6e-60	PFAM
coiled coil region	256	296	N/A	INTRINSIC
low complexity region	375	383	N/A	INTRINSIC
internal_repeat_1	450	597	3.31e-5	PROSPERO
low complexity region	615	630	N/A	INTRINSIC
internal_repeat_1	636	793	3.31e-5	PROSPERO
low complexity region	844	860	N/A	INTRINSIC
low complexity region	909	931	N/A	INTRINSIC
low complexity region	986	998	N/A	INTRINSIC
low complexity region	1002	1046	N/A	INTRINSIC
low complexity region	1126	1139	N/A	INTRINSIC
low complexity region	1258	1273	N/A	INTRINSIC
low complexity region	1328	1351	N/A	INTRINSIC
low complexity region	1543	1564	N/A	INTRINSIC
low complexity region	1578	1599	N/A	INTRINSIC
low complexity region	1607	1618	N/A	INTRINSIC
low complexity region	1808	1825	N/A	INTRINSIC
low complexity region	1894	1908	N/A	INTRINSIC
low complexity region	2043	2053	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134218

SMART Domains

Protein: ENSMUSP00000119169
Gene: ENSMUSG00000038375

Domain	Start	End	E-Value	Type
low complexity region	46	65	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146942

Predicted Effect

probably benign
Transcript: ENSMUST00000151466

SMART Domains

Protein: ENSMUSP00000121058
Gene: ENSMUSG00000038375

Domain	Start	End	E-Value	Type
Pfam:DOR	27	100	4.1e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000174685
AA Change: G98*

SMART Domains

Protein: ENSMUSP00000133880
Gene: ENSMUSG00000038375
AA Change: G98*

Domain	Start	End	E-Value	Type
Pfam:DOR	42	170	2.3e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173406

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.8%

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 promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded protein can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some genes. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	C	17: 36,268,737 (GRCm39)	I757M	probably benign	Het
Abtb3	A	G	10: 85,481,390 (GRCm39)	T931A	probably damaging	Het
Atg16l1	T	A	1: 87,694,551 (GRCm39)	I76N	probably damaging	Het
Baz1b	T	A	5: 135,271,284 (GRCm39)	I1289N	probably benign	Het
Bcl2l15	T	A	3: 103,740,285 (GRCm39)		probably null	Het
Cbl	G	T	9: 44,070,049 (GRCm39)	T566K	probably damaging	Het
Cd96	T	C	16: 45,919,482 (GRCm39)	K180E	probably benign	Het
Cpxm2	G	A	7: 131,656,549 (GRCm39)	T571I	possibly damaging	Het
Cyp2a12	A	T	7: 26,736,046 (GRCm39)	Y485F	probably benign	Het
Cyp4f17	T	A	17: 32,743,871 (GRCm39)	Y350N	possibly damaging	Het
Dstn	T	A	2: 143,780,342 (GRCm39)	I14N	probably damaging	Het
Eea1	A	G	10: 95,831,460 (GRCm39)	S184G	probably benign	Het
Eif1a	G	T	18: 46,741,130 (GRCm39)	G122C	probably damaging	Het
Esf1	T	A	2: 139,990,799 (GRCm39)	T562S	probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Fig4	T	C	10: 41,161,673 (GRCm39)	N30S	probably damaging	Het
Gria2	C	A	3: 80,639,377 (GRCm39)	E212*	probably null	Het
Gsdmc2	C	T	15: 63,699,622 (GRCm39)	A269T	probably benign	Het
Herc4	T	C	10: 63,109,350 (GRCm39)	V195A	probably benign	Het
Hivep1	T	C	13: 42,321,061 (GRCm39)	S2123P	probably damaging	Het
Hspa4	T	C	11: 53,160,519 (GRCm39)	E519G	probably benign	Het
Htr2b	A	G	1: 86,038,565 (GRCm39)	S14P	probably benign	Het
Ifit1	T	C	19: 34,625,047 (GRCm39)	V61A	probably damaging	Het
Ifitm1	C	A	7: 140,549,449 (GRCm39)	F77L	probably benign	Het
Matn2	T	C	15: 34,345,346 (GRCm39)	S118P	probably benign	Het
Mtmr3	C	A	11: 4,438,610 (GRCm39)	D615Y	probably damaging	Het
Mtss1	C	A	15: 58,953,351 (GRCm39)	C9F	probably damaging	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Nwd2	T	C	5: 63,948,928 (GRCm39)	S167P	possibly damaging	Het
Or1e34	T	C	11: 73,778,631 (GRCm39)	D189G	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,632 (GRCm39)	F102Y	probably damaging	Het
Or8b54	C	T	9: 38,686,850 (GRCm39)	Q100*	probably null	Het
Oscp1	T	C	4: 125,952,526 (GRCm39)	L18P	probably damaging	Het
Pax5	A	G	4: 44,537,462 (GRCm39)	S297P	probably damaging	Het
Phldb3	A	T	7: 24,323,797 (GRCm39)	D476V	probably benign	Het
Phlpp2	A	T	8: 110,622,219 (GRCm39)	I154L	probably benign	Het
Prx	T	A	7: 27,216,846 (GRCm39)	V449E	probably damaging	Het
Psd3	A	G	8: 68,416,341 (GRCm39)	S519P	probably benign	Het
Rnf138	T	G	18: 21,143,840 (GRCm39)	V128G	probably benign	Het
Safb	T	A	17: 56,904,803 (GRCm39)	S209T	probably benign	Het
Sbno1	C	A	5: 124,514,212 (GRCm39)	V1327L	possibly damaging	Het
Scarb1	A	G	5: 125,377,504 (GRCm39)	V176A	probably damaging	Het
Scd4	A	G	19: 44,327,407 (GRCm39)	H161R	possibly damaging	Het
Selenoo	T	A	15: 88,979,858 (GRCm39)	H335Q	probably damaging	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
Spef2	T	C	15: 9,626,217 (GRCm39)	I1116M	possibly damaging	Het
Taf2	G	A	15: 54,901,690 (GRCm39)	R835W	probably damaging	Het
Tdrd9	A	G	12: 112,006,899 (GRCm39)	E921G	probably damaging	Het
Tectb	G	A	19: 55,178,302 (GRCm39)	G234S	possibly damaging	Het
Tmc1	C	T	19: 20,776,540 (GRCm39)	M606I	probably damaging	Het
Tmed10	T	A	12: 85,390,291 (GRCm39)	I88F	probably damaging	Het
Tnfrsf11a	G	A	1: 105,735,880 (GRCm39)	V31I	unknown	Het
Tssc4	A	G	7: 142,623,782 (GRCm39)	D30G	probably damaging	Het
Uaca	T	C	9: 60,779,311 (GRCm39)	Y1233H	probably benign	Het
Unc13c	G	A	9: 73,838,235 (GRCm39)	T872I	probably damaging	Het
Unc80	A	G	1: 66,542,940 (GRCm39)	H398R	probably damaging	Het
Vmn1r64	G	A	7: 5,887,207 (GRCm39)	T112I	probably benign	Het
Vmn1r85	A	G	7: 12,818,650 (GRCm39)	Y165H	probably damaging	Het
Vmn2r72	A	T	7: 85,387,319 (GRCm39)	C748*	probably null	Het
Wdr17	A	G	8: 55,102,233 (GRCm39)	W929R	probably damaging	Het
Yeats2	A	T	16: 20,012,574 (GRCm39)	K591*	probably null	Het
Zbtb9	T	A	17: 27,193,074 (GRCm39)	S160T	probably damaging	Het
Znfx1	T	A	2: 166,898,827 (GRCm39)	R32S	probably damaging	Het
Zng1	T	C	19: 24,930,684 (GRCm39)	M122V	possibly damaging	Het

Other mutations in Trp53inp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02608:Trp53inp2	APN	2	155,228,569 (GRCm39)	missense	probably damaging	1.00
R9151:Trp53inp2	UTSW	2	155,228,558 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATAGACAGCTATACAGCTCCTCCCG -3'
(R):5'- CTGGCACAGGTAACTAGGCAGAAC -3'

Sequencing Primer
(F):5'- CCTCCTTGATGGATGAGAGC -3'
(R):5'- CAATACAAGTCCTACTCTGATTCTG -3'

Posted On

2013-07-30