Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Paip1'

227257

Institutional Source

Beutler Lab

Gene Symbol

Paip1

Ensembl Gene

ENSMUSG00000025451

Gene Name

polyadenylate binding protein-interacting protein 1

Synonyms

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119428601-119458218 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119430262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 128 (V128A)

Ref Sequence

ENSEMBL: ENSMUSP00000117256 (fasta)

Gene Model

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

AlphaFold

Q8VE62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026520
AA Change: V44A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026520
Gene: ENSMUSG00000025451
AA Change: V44A

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: V11A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104826
Gene: ENSMUSG00000025451
AA Change: V11A

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: V128A

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117256
Gene: ENSMUSG00000025451
AA Change: V128A

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: V132A

SMART Domains

Protein: ENSMUSP00000134617
Gene: ENSMUSG00000025451
AA Change: V132A

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: V44A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134051
Gene: ENSMUSG00000025451
AA Change: V44A

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

Predicted Effect

unknown
Transcript: ENSMUST00000174691
AA Change: V35A

SMART Domains

Protein: ENSMUSP00000134502
Gene: ENSMUSG00000025451
AA Change: V35A

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 63,898,737	R272P	possibly damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ablim3	A	T	18: 61,857,088	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Adamts13	C	A	2: 27,005,425	T1176N	probably benign	Het
Adgre5	T	C	8: 83,727,804	T357A	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,119,636	V310A	probably benign	Het
Bnipl	C	T	3: 95,244,211	G232E	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Cacna1s	G	A	1: 136,079,504	V173I	probably benign	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chrdl1	T	C	X: 143,303,418	I231V	probably benign	Het
Ciita	C	T	16: 10,518,353	T958I	probably benign	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,101,741	D240G	probably damaging	Het
Ddx58	A	T	4: 40,224,069		probably null	Het
Dlgap1	C	T	17: 70,662,770	R524C	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,275,252	M453V	probably benign	Het
Ednrb	G	T	14: 103,817,099	N432K	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Fez1	A	G	9: 36,867,945	K306R	probably benign	Het
Fmo4	A	G	1: 162,809,887	V12A	probably benign	Het
Fpgt	T	C	3: 155,087,874	Y172C	probably damaging	Het
Fsip2	T	A	2: 83,008,815	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477	R205*	probably null	Het
Grik5	A	T	7: 25,015,313	M752K	possibly damaging	Het
Herc2	A	G	7: 56,226,964	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,592,545	D439V	probably damaging	Het
Igsf3	A	G	3: 101,439,515	T609A	probably benign	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
Lgi2	A	G	5: 52,538,505	S371P	probably damaging	Het
March3	A	T	18: 56,811,853	V56E	possibly damaging	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,325,006	S683P	probably damaging	Het
Olfr1260	C	A	2: 89,978,213	T145K	probably benign	Het
Olfr1454	A	T	19: 13,063,680	M90L	probably benign	Het
Olfr527	T	C	7: 140,336,653	S264P	possibly damaging	Het
Onecut3	T	G	10: 80,495,014	L3V	unknown	Het
Otogl	C	T	10: 107,781,043	C1791Y	probably damaging	Het
Pcnx2	A	T	8: 125,761,742	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,158,451	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,787,348		probably null	Het
Prune1	C	T	3: 95,255,408	R318Q	probably benign	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Psg27	A	G	7: 18,565,009	L129P	probably benign	Het
Psmc6	A	G	14: 45,329,866	K7E	possibly damaging	Het
Reln	A	T	5: 21,919,177	V2777E	probably damaging	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Slc5a5	C	T	8: 70,892,439	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smg1	T	C	7: 118,163,166		probably benign	Het
Smurf2	T	A	11: 106,841,769	Q335L	probably benign	Het
Sspo	A	T	6: 48,473,517	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syt1	A	G	10: 108,583,972	I276T	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar9	A	T	10: 24,108,979	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,882,965	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,458,867	T1091A	probably benign	Het
Ttn	G	T	2: 76,937,776	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,779,571		probably null	Het
Ube3c	A	G	5: 29,635,640	E671G	probably benign	Het
Upf3a	A	G	8: 13,785,850	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,275,072	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,922,452	R549*	probably null	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp747	T	A	7: 127,373,970	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,289,382	Q161L	unknown	Het

Other mutations in Paip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02668:Paip1	APN	13	119438071	missense	probably damaging	1.00
IGL02873:Paip1	APN	13	119445812	missense	possibly damaging	0.95
R0517:Paip1	UTSW	13	119447790	missense	probably damaging	1.00
R0791:Paip1	UTSW	13	119430318	missense	possibly damaging	0.69
R0792:Paip1	UTSW	13	119430318	missense	possibly damaging	0.69
R1419:Paip1	UTSW	13	119457017	missense	probably damaging	0.99
R1572:Paip1	UTSW	13	119451784	unclassified	probably benign
R1935:Paip1	UTSW	13	119457014	missense	probably damaging	1.00
R1936:Paip1	UTSW	13	119457014	missense	probably damaging	1.00
R3827:Paip1	UTSW	13	119430232	start codon destroyed	probably null	0.47
R4082:Paip1	UTSW	13	119457004	missense	probably damaging	1.00
R4092:Paip1	UTSW	13	119449913	missense	probably benign	0.02
R4854:Paip1	UTSW	13	119449889	splice site	probably benign
R5012:Paip1	UTSW	13	119447802	missense	probably benign
R5103:Paip1	UTSW	13	119437979	missense	possibly damaging	0.95
R5425:Paip1	UTSW	13	119430166	missense	possibly damaging	0.60
R5592:Paip1	UTSW	13	119450798	missense	probably damaging	1.00
R5851:Paip1	UTSW	13	119440765	missense	possibly damaging	0.94
R5929:Paip1	UTSW	13	119445790	missense	probably damaging	1.00
R5976:Paip1	UTSW	13	119456997	missense	probably damaging	1.00
R6021:Paip1	UTSW	13	119457135	frame shift	probably null
R6326:Paip1	UTSW	13	119430217	missense	probably benign	0.00
R6964:Paip1	UTSW	13	119450770	missense	possibly damaging	0.61
R7544:Paip1	UTSW	13	119445801	missense	probably damaging	1.00
R7552:Paip1	UTSW	13	119440820	missense	possibly damaging	0.83
R7659:Paip1	UTSW	13	119450770	missense	possibly damaging	0.61
R7660:Paip1	UTSW	13	119450770	missense	possibly damaging	0.61
R7661:Paip1	UTSW	13	119450770	missense	possibly damaging	0.61
R7984:Paip1	UTSW	13	119430162	nonsense	probably null
R8294:Paip1	UTSW	13	119450764	missense	possibly damaging	0.95
R8884:Paip1	UTSW	13	119438017	missense	probably damaging	1.00
R8888:Paip1	UTSW	13	119430265	missense	probably benign	0.02
R8895:Paip1	UTSW	13	119430265	missense	probably benign	0.02
R9315:Paip1	UTSW	13	119449980	missense	probably benign	0.24
Z1177:Paip1	UTSW	13	119447808	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GTTCTCAGACGGTTTCTAAATCTG -3'
(R):5'- TAGTACTGAAAGCAGCCAGC -3'

Sequencing Primer
(F):5'- GGAATGAATACATCTAGCACTGTTTG -3'
(R):5'- CACAAGACTTGTAGGAGGTTT -3'

Posted On

2014-09-17