Mutagenetix > Incidental Mutation

Incidental Mutation 'R5103:Paip1'

392505

Institutional Source

Beutler Lab

Gene Symbol

Paip1

Ensembl Gene

ENSMUSG00000025451

Gene Name

polyadenylate binding protein-interacting protein 1

Synonyms

MMRRC Submission

042691-MU

Accession Numbers

Essential gene?

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

Stock #

R5103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119565137-119594754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119574515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 70 (E70G)

Ref Sequence

ENSEMBL: ENSMUSP00000134051 (fasta)

Gene Model

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

AlphaFold

Q8VE62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026520
AA Change: E70G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026520
Gene: ENSMUSG00000025451
AA Change: E70G

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

possibly damaging
Transcript: ENSMUST00000109203
AA Change: E37G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104826
Gene: ENSMUSG00000025451
AA Change: E37G

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: E154G

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117256
Gene: ENSMUSG00000025451
AA Change: E154G

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

unknown
Transcript: ENSMUST00000132304
AA Change: E158G

SMART Domains

Protein: ENSMUSP00000134617
Gene: ENSMUSG00000025451
AA Change: E158G

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

possibly damaging
Transcript: ENSMUST00000173627
AA Change: E70G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134051
Gene: ENSMUSG00000025451
AA Change: E70G

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

SMART Domains

Protein: ENSMUSP00000134365
Gene: ENSMUSG00000025451

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

Predicted Effect

unknown
Transcript: ENSMUST00000174691
AA Change: E61G

SMART Domains

Protein: ENSMUSP00000134502
Gene: ENSMUSG00000025451
AA Change: E61G

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

Meta Mutation Damage Score

0.0881

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

99% (82/83)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,051,345 (GRCm39)	R518H	probably damaging	Het
Agfg1	T	C	1: 82,871,288 (GRCm39)	S486P	probably damaging	Het
Arhgap18	A	G	10: 26,745,978 (GRCm39)	D283G	probably damaging	Het
Asb1	A	G	1: 91,480,066 (GRCm39)	N162S	possibly damaging	Het
Capn1	A	G	19: 6,059,140 (GRCm39)	Y274H	probably damaging	Het
Cdk5	A	T	5: 24,627,833 (GRCm39)	V30E	probably damaging	Het
Cep290	T	G	10: 100,374,882 (GRCm39)	L1376W	probably damaging	Het
Crybg1	T	A	10: 43,873,944 (GRCm39)	T1055S	probably damaging	Het
Cyp2c70	A	G	19: 40,149,076 (GRCm39)	Y357H	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Eml6	T	A	11: 29,800,905 (GRCm39)	E367V	possibly damaging	Het
Emp1	A	G	6: 135,358,073 (GRCm39)	T140A	probably benign	Het
Ergic3	T	C	2: 155,850,545 (GRCm39)	V74A	probably benign	Het
Fancm	A	T	12: 65,152,632 (GRCm39)	L1029F	probably damaging	Het
Fank1	C	A	7: 133,478,570 (GRCm39)	C210*	probably null	Het
Fbxo31	T	C	8: 122,279,101 (GRCm39)	D462G	probably damaging	Het
Frem1	G	A	4: 82,909,849 (GRCm39)	A736V	probably benign	Het
Fshr	T	C	17: 89,404,796 (GRCm39)	T56A	possibly damaging	Het
Gm5901	A	T	7: 105,026,589 (GRCm39)		probably null	Het
Golga2	A	G	2: 32,193,758 (GRCm39)	E458G	probably benign	Het
Grik2	T	A	10: 49,372,205 (GRCm39)	I335F	probably benign	Het
Grin1	T	A	2: 25,200,433 (GRCm39)	M230L	probably benign	Het
Gtf2f1	C	T	17: 57,311,519 (GRCm39)	G297D	probably damaging	Het
H2-T5	T	C	17: 36,472,577 (GRCm39)		probably benign	Het
Hacd1	T	C	2: 14,045,724 (GRCm39)	T136A	probably damaging	Het
Hdac5	T	A	11: 102,087,109 (GRCm39)	S24C	probably damaging	Het
Jtb	T	C	3: 90,139,394 (GRCm39)		probably benign	Het
Kif1a	C	T	1: 92,974,418 (GRCm39)	G979E	probably damaging	Het
Mark2	T	C	19: 7,261,868 (GRCm39)	M345V	probably damaging	Het
Mfsd14b	A	G	13: 65,234,907 (GRCm39)	V90A	possibly damaging	Het
Micu1	T	C	10: 59,624,806 (GRCm39)	Y283H	possibly damaging	Het
Mmp2	C	T	8: 93,558,413 (GRCm39)	R161*	probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Msh5	T	C	17: 35,248,215 (GRCm39)	I783V	possibly damaging	Het
Myo3b	T	A	2: 69,926,747 (GRCm39)	F65I	probably benign	Het
Nat10	C	A	2: 103,587,605 (GRCm39)	V37L	probably damaging	Het
Nlrp1a	T	A	11: 70,990,352 (GRCm39)	T967S	probably damaging	Het
Nolc1	A	T	19: 46,070,103 (GRCm39)	K291*	probably null	Het
Or1j18	A	T	2: 36,624,680 (GRCm39)	T116S	probably benign	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or8d2b	G	T	9: 38,788,872 (GRCm39)	M133I	probably damaging	Het
Or8u8	C	A	2: 86,011,960 (GRCm39)	R165L	probably benign	Het
Palmd	T	A	3: 116,721,070 (GRCm39)	E127V	probably damaging	Het
Paqr6	T	A	3: 88,275,024 (GRCm39)	C262*	probably null	Het
Pdcd11	A	G	19: 47,112,893 (GRCm39)	H1301R	probably benign	Het
Plce1	C	A	19: 38,755,659 (GRCm39)	D1896E	probably damaging	Het
Ppib	A	G	9: 65,968,747 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,479,192 (GRCm39)	V654M	probably benign	Het
Rab26	T	C	17: 24,753,071 (GRCm39)		probably benign	Het
Recql4	A	G	15: 76,590,956 (GRCm39)	L468P	probably damaging	Het
Retreg1	C	T	15: 25,968,540 (GRCm39)	Q65*	probably null	Het
Rhpn1	C	T	15: 75,586,064 (GRCm39)	T659I	possibly damaging	Het
Rmc1	A	G	18: 12,322,319 (GRCm39)	I591V	probably benign	Het
Slc12a5	C	A	2: 164,834,353 (GRCm39)	H791Q	probably damaging	Het
Slc40a1	G	A	1: 45,958,155 (GRCm39)	Q93*	probably null	Het
Slc4a1	T	C	11: 102,244,087 (GRCm39)	M681V	possibly damaging	Het
Slc6a9	T	A	4: 117,725,352 (GRCm39)	F493L	probably benign	Het
Smc2	A	G	4: 52,459,033 (GRCm39)	E476G	probably damaging	Het
Smco4	G	T	9: 15,456,090 (GRCm39)	E59*	probably null	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stat4	T	A	1: 52,111,054 (GRCm39)	L167Q	probably damaging	Het
Sult1e1	C	A	5: 87,724,091 (GRCm39)	V289L	probably benign	Het
Tbc1d4	C	A	14: 101,696,318 (GRCm39)	E877*	probably null	Het
Tenm4	A	T	7: 96,492,164 (GRCm39)	I1033F	probably damaging	Het
Tppp2	T	A	14: 52,156,909 (GRCm39)	F95L	probably benign	Het
Trappc14	A	G	5: 138,260,562 (GRCm39)	V288A	probably benign	Het
Vmn2r41	G	A	7: 8,141,341 (GRCm39)	L708F	probably benign	Het
Washc5	G	A	15: 59,222,018 (GRCm39)	P126L	probably damaging	Het
Xkr4	T	C	1: 3,740,911 (GRCm39)	I221V	probably benign	Het
Xkr5	T	C	8: 18,983,659 (GRCm39)	R628G	probably benign	Het
Zfp207	T	C	11: 80,282,736 (GRCm39)	L233P	probably damaging	Het
Zfp827	T	A	8: 79,797,032 (GRCm39)	C373S	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
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
R7660: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'- CTGAGTGCACTTAAAGTTTCTGTTC -3'
(R):5'- TTGGGCTCCAGGGAAACTAC -3'

Sequencing Primer
(F):5'- CTGTTCTTTAAAGTTATGGGAGATCC -3'
(R):5'- AGCTTGAGCCTACCTACCTG -3'

Posted On

2016-06-15