Mutagenetix > Incidental Mutation

Incidental Mutation 'R7660:Paip1'

591530

Institutional Source

Beutler Lab

Gene Symbol

Paip1

Ensembl Gene

ENSMUSG00000025451

Gene Name

polyadenylate binding protein-interacting protein 1

Synonyms

MMRRC Submission

045735-MU

Accession Numbers

Essential gene?

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

Stock #

R7660 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119565137-119594754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119587306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 390 (T390I)

Ref Sequence

ENSEMBL: ENSMUSP00000117256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026520] [ENSMUST00000109203] [ENSMUST00000126957] [ENSMUST00000173627] [ENSMUST00000174533]

AlphaFold

Q8VE62

Predicted Effect

probably benign
Transcript: ENSMUST00000026520
AA Change: T306I

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026520
Gene: ENSMUSG00000025451
AA Change: T306I

Domain	Start	End	E-Value	Type
Pfam:PAM2	44	61	8.9e-8	PFAM
MIF4G	80	297	2.62e-46	SMART
low complexity region	373	385	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109203
AA Change: T273I

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104826
Gene: ENSMUSG00000025451
AA Change: T273I

Domain	Start	End	E-Value	Type
Pfam:PAM2	11	28	3.7e-7	PFAM
MIF4G	47	264	2.62e-46	SMART
low complexity region	340	352	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126957
AA Change: T390I

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117256
Gene: ENSMUSG00000025451
AA Change: T390I

Domain	Start	End	E-Value	Type
low complexity region	7	38	N/A	INTRINSIC
low complexity region	44	74	N/A	INTRINSIC
low complexity region	79	91	N/A	INTRINSIC
Pfam:PAM2	128	145	3.3e-7	PFAM
MIF4G	164	381	2.62e-46	SMART
low complexity region	457	469	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132304

SMART Domains

Protein: ENSMUSP00000134617
Gene: ENSMUSG00000025451

Domain	Start	End	E-Value	Type
low complexity region	7	38	N/A	INTRINSIC
low complexity region	44	74	N/A	INTRINSIC
low complexity region	79	91	N/A	INTRINSIC
Pfam:PAM2	128	145	6.8e-5	PFAM
Pfam:MIF4G	164	267	1.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173627
AA Change: T306I

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134051
Gene: ENSMUSG00000025451
AA Change: T306I

Domain	Start	End	E-Value	Type
Pfam:PAM2	44	61	3.6e-7	PFAM
MIF4G	80	297	2.62e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174533
AA Change: T115I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134365
Gene: ENSMUSG00000025451
AA Change: T115I

Domain	Start	End	E-Value	Type
Pfam:MIF4G	49	106	1.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174691

SMART Domains

Protein: ENSMUSP00000134502
Gene: ENSMUSG00000025451

Domain	Start	End	E-Value	Type
Pfam:PAM2	36	53	2.4e-7	PFAM
Pfam:MIF4G	72	207	1.6e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,754,512 (GRCm39)	H142L	possibly damaging	Het
Aadacl2fm3	A	G	3: 59,772,689 (GRCm39)	I64M	probably benign	Het
Abca13	A	G	11: 9,240,678 (GRCm39)	E847G	probably benign	Het
Abca9	T	A	11: 110,006,278 (GRCm39)	T1276S	probably benign	Het
Abcb11	C	T	2: 69,117,938 (GRCm39)		probably null	Het
Alpk1	G	C	3: 127,474,616 (GRCm39)	H462Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atm	C	T	9: 53,356,807 (GRCm39)	V2815M	probably benign	Het
Braf	T	C	6: 39,600,575 (GRCm39)	I681V	possibly damaging	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Crybg1	T	C	10: 43,874,831 (GRCm39)	D759G	probably damaging	Het
Csrp2	A	G	10: 110,773,624 (GRCm39)	N103S	probably benign	Het
Faf1	A	T	4: 109,719,034 (GRCm39)	H380L	probably damaging	Het
Farp1	G	A	14: 121,514,334 (GRCm39)	A888T	probably benign	Het
Fat4	A	T	3: 39,035,309 (GRCm39)	Q2987L	probably benign	Het
Fkbp15	T	A	4: 62,232,578 (GRCm39)	T665S	probably benign	Het
Gigyf1	T	C	5: 137,519,231 (GRCm39)	S343P	probably benign	Het
Glrx3	A	G	7: 137,060,954 (GRCm39)	Y196C	probably damaging	Het
Gm3278	T	G	14: 16,080,387 (GRCm39)	L66R	probably damaging	Het
Ifi205	A	G	1: 173,855,814 (GRCm39)	V72A	probably benign	Het
Ift140	T	G	17: 25,270,798 (GRCm39)	L708R	probably damaging	Het
Ints13	A	T	6: 146,458,836 (GRCm39)	L328M	probably benign	Het
Itfg2	A	G	6: 128,401,709 (GRCm39)	I23T	probably damaging	Het
Ldha	C	T	7: 46,499,681 (GRCm39)	P100S	unknown	Het
Lmtk2	T	A	5: 144,085,158 (GRCm39)	L210H	probably damaging	Het
Lrrc4	T	A	6: 28,829,816 (GRCm39)	I600L	probably benign	Het
Map2	C	A	1: 66,453,536 (GRCm39)	P809T	probably damaging	Het
Matn2	T	A	15: 34,423,874 (GRCm39)	C577*	probably null	Het
Matn2	A	G	15: 34,403,092 (GRCm39)	K439R	probably benign	Het
Mep1a	C	T	17: 43,789,868 (GRCm39)	G494S	probably benign	Het
Mtmr4	T	C	11: 87,495,406 (GRCm39)	F488L	probably damaging	Het
Mtus1	G	T	8: 41,469,248 (GRCm39)	T8K	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mybpc1	T	C	10: 88,384,716 (GRCm39)	T523A	possibly damaging	Het
Ncoa3	C	T	2: 165,911,241 (GRCm39)	P1334S	probably benign	Het
Neb	T	G	2: 52,139,451 (GRCm39)	M119L		Het
Nox4	T	C	7: 87,019,230 (GRCm39)	Y408H	probably damaging	Het
Nxpe3	C	T	16: 55,664,690 (GRCm39)	R510Q	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or4f52	C	T	2: 111,061,960 (GRCm39)	M59I	probably damaging	Het
Or5p60	A	G	7: 107,724,041 (GRCm39)	V143A	probably benign	Het
Or6c214	C	A	10: 129,590,432 (GRCm39)	E296*	probably null	Het
Or7g23	T	C	9: 19,086,804 (GRCm39)	H56R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,174 (GRCm39)	S116T	possibly damaging	Het
Pax8	T	C	2: 24,326,573 (GRCm39)	Y263C	probably benign	Het
Pcdha11	T	A	18: 37,138,904 (GRCm39)	Y178N	probably benign	Het
Pcdhga11	C	T	18: 37,890,183 (GRCm39)	T397M	possibly damaging	Het
Pdlim5	G	T	3: 141,964,946 (GRCm39)	H428N	probably damaging	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Rgs3	A	G	4: 62,619,349 (GRCm39)	D478G	possibly damaging	Het
Scgb2b11	C	T	7: 31,909,883 (GRCm39)	E68K	probably damaging	Het
Sema4b	C	A	7: 79,869,995 (GRCm39)	Q428K	probably benign	Het
Semp2l2a	A	T	8: 13,887,995 (GRCm39)	I32K	probably benign	Het
Serpine2	T	C	1: 79,780,622 (GRCm39)	T276A	probably benign	Het
Sgo2b	G	A	8: 64,393,108 (GRCm39)	H110Y	probably benign	Het
Slc12a7	T	C	13: 73,954,208 (GRCm39)	L833S	probably benign	Het
Slc6a15	T	A	10: 103,229,241 (GRCm39)		probably null	Het
Srfbp1	G	A	18: 52,608,671 (GRCm39)	V24I	probably damaging	Het
Stpg2	A	T	3: 139,407,458 (GRCm39)	N537Y	probably damaging	Het
Svep1	A	T	4: 58,087,782 (GRCm39)	S1766T	probably benign	Het
Tiam2	T	A	17: 3,532,880 (GRCm39)	M1K	probably null	Het
Tmem245	A	T	4: 56,899,170 (GRCm39)	I661K	possibly damaging	Het
Trim5	T	C	7: 103,928,569 (GRCm39)	H124R	probably damaging	Het
Trim67	T	A	8: 125,547,024 (GRCm39)	L478Q	probably damaging	Het
Triml2	A	G	8: 43,646,357 (GRCm39)	D282G	probably damaging	Het
Txndc11	T	C	16: 10,905,793 (GRCm39)	Y579C	probably damaging	Het
Ube3c	T	A	5: 29,824,629 (GRCm39)	D551E	probably damaging	Het
Vmn1r194	T	C	13: 22,428,767 (GRCm39)	V128A	not run	Het
Vmn2r130	T	A	17: 23,296,006 (GRCm39)	D725E	probably damaging	Het
Vmn2r70	T	G	7: 85,218,130 (GRCm39)	N56T	probably damaging	Het
Wdr95	T	C	5: 149,517,945 (GRCm39)	V501A	possibly damaging	Het
Zc3h8	T	C	2: 128,772,742 (GRCm39)	T249A	probably damaging	Het
Zfp54	T	C	17: 21,654,501 (GRCm39)	C332R	probably damaging	Het

Other mutations in Paip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02668:Paip1	APN	13	119,574,607 (GRCm39)	missense	probably damaging	1.00
IGL02873:Paip1	APN	13	119,582,348 (GRCm39)	missense	possibly damaging	0.95
R0517:Paip1	UTSW	13	119,584,326 (GRCm39)	missense	probably damaging	1.00
R0791:Paip1	UTSW	13	119,566,854 (GRCm39)	missense	possibly damaging	0.69
R0792:Paip1	UTSW	13	119,566,854 (GRCm39)	missense	possibly damaging	0.69
R1419:Paip1	UTSW	13	119,593,553 (GRCm39)	missense	probably damaging	0.99
R1572:Paip1	UTSW	13	119,588,320 (GRCm39)	unclassified	probably benign
R1935:Paip1	UTSW	13	119,593,550 (GRCm39)	missense	probably damaging	1.00
R1936:Paip1	UTSW	13	119,593,550 (GRCm39)	missense	probably damaging	1.00
R2072:Paip1	UTSW	13	119,566,798 (GRCm39)	missense	possibly damaging	0.88
R3827:Paip1	UTSW	13	119,566,768 (GRCm39)	start codon destroyed	probably null	0.47
R4082:Paip1	UTSW	13	119,593,540 (GRCm39)	missense	probably damaging	1.00
R4092:Paip1	UTSW	13	119,586,449 (GRCm39)	missense	probably benign	0.02
R4854:Paip1	UTSW	13	119,586,425 (GRCm39)	splice site	probably benign
R5012:Paip1	UTSW	13	119,584,338 (GRCm39)	missense	probably benign
R5103:Paip1	UTSW	13	119,574,515 (GRCm39)	missense	possibly damaging	0.95
R5425:Paip1	UTSW	13	119,566,702 (GRCm39)	missense	possibly damaging	0.60
R5592:Paip1	UTSW	13	119,587,334 (GRCm39)	missense	probably damaging	1.00
R5851:Paip1	UTSW	13	119,577,301 (GRCm39)	missense	possibly damaging	0.94
R5929:Paip1	UTSW	13	119,582,326 (GRCm39)	missense	probably damaging	1.00
R5976:Paip1	UTSW	13	119,593,533 (GRCm39)	missense	probably damaging	1.00
R6021:Paip1	UTSW	13	119,593,671 (GRCm39)	frame shift	probably null
R6326:Paip1	UTSW	13	119,566,753 (GRCm39)	missense	probably benign	0.00
R6964:Paip1	UTSW	13	119,587,306 (GRCm39)	missense	possibly damaging	0.61
R7544:Paip1	UTSW	13	119,582,337 (GRCm39)	missense	probably damaging	1.00
R7552:Paip1	UTSW	13	119,577,356 (GRCm39)	missense	possibly damaging	0.83
R7659:Paip1	UTSW	13	119,587,306 (GRCm39)	missense	possibly damaging	0.61
R7661:Paip1	UTSW	13	119,587,306 (GRCm39)	missense	possibly damaging	0.61
R7984:Paip1	UTSW	13	119,566,698 (GRCm39)	nonsense	probably null
R8294:Paip1	UTSW	13	119,587,300 (GRCm39)	missense	possibly damaging	0.95
R8884:Paip1	UTSW	13	119,574,553 (GRCm39)	missense	probably damaging	1.00
R8888:Paip1	UTSW	13	119,566,801 (GRCm39)	missense	probably benign	0.02
R8895:Paip1	UTSW	13	119,566,801 (GRCm39)	missense	probably benign	0.02
R9315:Paip1	UTSW	13	119,586,516 (GRCm39)	missense	probably benign	0.24
Z1177:Paip1	UTSW	13	119,584,344 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGTCTAGAAATTTAAAGCATTGGGT -3'
(R):5'- GGGCACTGAATTATGAGAATAGCT -3'

Sequencing Primer
(F):5'- AGCATTTGCTGTAGATGC -3'
(R):5'- CACAGGCTCATATGGTTGCATAC -3'

Posted On

2019-11-12